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Sample records for kawasaki disease presenting

  1. Two cases of Kawasaki disease presented with acute febrile jaundice.

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    Kaman, Ayşe; Aydın-Teke, Türkan; Gayretli-Aydın, Zeynep Gökçe; Öz, Fatma Nur; Metin-Akcan, Özge; Eriş, Deniz; Tanır, Gönül

    2017-01-01

    Kawasaki disease is an acute, systemic vasculitis of unknown etiology. Although gastrointestinal involvement does not belong to the classic diagnostic criteria; diarrhea, abdominal pain, hepatic dysfunction, hydrops of gallbladder, and acute febrile cholestatic jaundice are reported in patients with Kawasaki disease. We describe here two cases presented with fever, and acute jaundice as initial features of Kawasaki disease.

  2. Atypical Kawasaki Disease Presenting as Intestinal Pseudo-obstruction

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    Mao-Meng Tiao

    2006-01-01

    Full Text Available Intestinal pseudo-obstruction in atypical Kawasaki disease (KD is rare. A boy aged 2 years and 6 months presented with a 7-day history of fever, coffee-ground vomit, and abdominal pain. Abdominal radiography and ultrasound showed a dilated duodenum. Peeling of the skin on his fingers and toes developed on hospitalization day 9. Echocardiogram revealed right and left coronary artery dilatation compatible with KD. He was treated with 2 g/kg intravenous immunoglobulin (IVIG, with rapid resolution of fever and relief of abdominal pain. Follow-up abdominal radiography and ultrasound showed improvement of bowel dilatation. This case illustrates that atypical KD can present with intestinal pseudo-obstruction. A high index of suspicion is required for early diagnosis, and prompt treatment with IVIG is recommended.

  3. An Adolescent with Kawasaki Disease.

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    Gupta, Kirti; Rohit, Manojkumar; Sharma, Avinash; Nada, Ritambhra; Jain, Sanjay; Varma, Subhash

    2016-01-01

    Kawasaki disease is an acute vasculitis of unknown etiology that predominantly affects children <5 years of age. The incidence and the severity of myocarditis in this disease is variable and depends upon the stage of the disease, acute or chronic. Acute-stage Kawasaki disease shows relatively high incidence of myocarditis, but almost all cases are clinically mild. We describe teenage boy presenting with atypical/incomplete manifestations of Kawasaki disease and developing fulminant myocarditis within a week of illness resulting in death. The case underscores the importance of suspecting Kawasaki disease in a young child presenting with features of myocardial ischemia.

  4. Kawasaki disease: An unusual presentation in a 14-year old boy in ...

    African Journals Online (AJOL)

    Kawasaki disease (KD) is an acute systemic vasculitis that mostly affects children less than 5years. Occasionally, it may presents with renal involvement of varying severity. In Nigeria and most of Africa, only a few cases of KD have been reported and these were among children within the typical age group. We report an ...

  5. Kawasaki Disease: MedlinePlus Health Topic

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    ... Spanish Kawasaki disease (Medical Encyclopedia) Also in Spanish Topic Image MedlinePlus Email Updates Get Kawasaki Disease updates ... GO MEDICAL ENCYCLOPEDIA Electrocardiogram Kawasaki disease Related Health Topics Vasculitis National Institutes of Health The primary NIH ...

  6. Kawasaki disease: review of 21 cases

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    Cem Arat

    2016-03-01

    Conclusion: Kawasaki disease has difficulty in diagnosis because of having broad spectrum of presenting symptoms. Early diagnosis and treatment is very important in preventing coronary artery abnormalities. [Cukurova Med J 2016; 41(1.000: 97-104

  7. Vaccines and Kawasaki disease.

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    Esposito, Susanna; Bianchini, Sonia; Dellepiane, Rosa Maria; Principi, Nicola

    2016-01-01

    The distinctive immune system characteristics of children with Kawasaki disease (KD) could suggest that they respond in a particular way to all antigenic stimulations, including those due to vaccines. Moreover, treatment of KD is mainly based on immunomodulatory therapy. These factors suggest that vaccines and KD may interact in several ways. These interactions could be of clinical relevance because KD is a disease of younger children who receive most of the vaccines recommended for infectious disease prevention. This paper shows that available evidence does not support an association between KD development and vaccine administration. Moreover, it highlights that administration of routine vaccines is mandatory even in children with KD and all efforts must be made to ensure the highest degree of protection against vaccine-preventable diseases for these patients. However, studies are needed to clarify currently unsolved issues, especially issues related to immunologic interference induced by intravenous immunoglobulin and biological drugs.

  8. Genetics Home Reference: Kawasaki disease

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    ... how do mutations occur? How can gene mutations affect health and development? More about ... but the inheritance pattern is unknown. Children of parents who have had Kawasaki disease have twice the ...

  9. Atypical Kawasaki Disease Presenting with Hemiparesis and Aphasia: A Case Report

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    Ali Nikkhah

    2018-01-01

    Full Text Available Kawasaki disease (KD is an inflammatory vasculitis. KD is classified into two groups based on clinical characteristics criteria, namely classic and incomplete. Cerebral vascular abnormality, especially arterial ischemic stroke (AIS is very rare and unusual in KD. Here, we report a 4-year-old boy who was referred to our tertiary pediatric center with abrupt right hemiparesis and aphasia. At admission time, he had febrile illness and was toxic. On physical examination, we found unilateral left submandibular lymphadenopathy. On neurologic examination, we obtained right sided hemiparesis with hemiparetic gait and aphasia. His deep tendon reflexes (DTRs of right extremities were exaggerated and his sensory system was intact. Based on these features, some differential diagnoses were suggested, such as acute encephalitis with focal signs, brain abscess, cerebral vasculitis, hemorrhagic insults, and ischemic stroke, etc. After a complete evaluation, especially brain MRI and MRA, our diagnosis was arterial ischemic stroke (AIS following atypical KD. Based on these findings, we administered intravenous immunoglobulin (IVIG 2 gm/kg and oral high dose aspirin (100 mg/kg/d. He responded to these anti-inflammatory treatments dramatically.

  10. Myocardial ischemia in Kawasaki disease

    International Nuclear Information System (INIS)

    Fukuda, Tsuyoshi

    1993-01-01

    The detection of myocardial ischemia is essential for evaluation of patients with Kawasaki disease, especially who have had coronary artery lesions. To evaluate the clinical efficacy of Tl-201 single photon emission computed tomography (SPECT) after dipyridamole infusion (maximum dose 0.70 mg/kg) for detecting myocardial ischemia, 44 patients with Kawasaki disease aged 7.7±4.8 years at the study and 10 age matched controls were observed. In the Kawasaki disease group, significant coronary artery stenosis was observed in 14, coronary aneurysm without stenosis in 18, the regression of the coronary aneurysms in 2 and without coronary lesions in 10 patients. In 24 of 44 patients, treadmill exercise stress test was also performed at the same period. Myocardial ischemic changes were observed in 11 patients, all combined with significant coronary artery stenosis. The sensitivity of SPECT for detection of overall coronary stenosis was 79%, coronary that of treadmill exercise test was only 33% (p<0.001). Furthermore, among the patients having significant coronary stenosis, the severity score was significantly elevated in patients who had electrocardiographic abnormal Q wave compared to those without abnormal Q wave (51.0±38.8 versus 20.0±12.1, p<0.05). These data suggest that the pharmacological stress scintigraphy using dipyridamole injection provides not only the accurate detection but quantitative evaluation of myocardial ischemia in these patients. This noninvasive technique may become one of the most useful index for detection and follow-up of myocardial ischemia in Kawasaki disease. (author)

  11. Multiple giant succular and fusiform right and left coronary artery aneurysms after early and adequate treatment of atypical kawasaki disease with unusual presentation.

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    Mostafa Behjati-Ardakani

    2014-06-01

    Full Text Available The major complication of Kawasaki disease is coronary artery dilatation and aneurysm. It occurs in approximately 15-25% of untreated children with Kawasaki Disease. Early diagnosis and treatment with Intravenous immune globulin (IVIG and aspirin (ASA can reduce the incidence of coronary artery abnormality to 2%-5%. We report one case of Atypical Kawasaki Disease with Multiple giant coronary artery aneurysms despite early adequate treatment with IVIG and ASA.

  12. Kawasaki disease following Rocky Mountain spotted fever: a case report

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    Bal Aswine K

    2009-07-01

    Full Text Available Abstract Introduction Kawasaki disease is an idiopathic acute systemic vasculitis of childhood. Although it simulates the clinical features of many infectious diseases, an infectious etiology has not been established. This is the first reported case of Kawasaki disease following Rocky Mountain spotted fever. Case presentation We report the case of a 4-year-old girl who presented with fever and petechial rash. Serology confirmed Rocky Mountain spotted fever. While being treated with intravenous doxycycline, she developed swelling of her hands and feet. She had the clinical features of Kawasaki disease which resolved after therapy with intravenous immune globulin (IVIG and aspirin. Conclusion This case report suggests that Kawasaki disease can occur concurrently or immediately after a rickettsial illness such as Rocky Mountain spotted fever, hypothesizing an antigen-driven immune response to a rickettsial antigen.

  13. Kawasaki disease following Rocky Mountain spotted fever: a case report.

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    Bal, Aswine K; Kairys, Steven W

    2009-07-06

    Kawasaki disease is an idiopathic acute systemic vasculitis of childhood. Although it simulates the clinical features of many infectious diseases, an infectious etiology has not been established. This is the first reported case of Kawasaki disease following Rocky Mountain spotted fever. We report the case of a 4-year-old girl who presented with fever and petechial rash. Serology confirmed Rocky Mountain spotted fever. While being treated with intravenous doxycycline, she developed swelling of her hands and feet. She had the clinical features of Kawasaki disease which resolved after therapy with intravenous immune globulin (IVIG) and aspirin. This case report suggests that Kawasaki disease can occur concurrently or immediately after a rickettsial illness such as Rocky Mountain spotted fever, hypothesizing an antigen-driven immune response to a rickettsial antigen.

  14. Doença de Kawasaki Kawasaki disease

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    Patrícia Aparecida de Castro

    2009-08-01

    Full Text Available A doença de Kawasaki é vasculite sistêmica e aguda de etiologia desconhecida. Constitui a principal causa de doença cardíaca adquirida em crianças nos EUA. Ocorre mais frequentemente em meninos, 80% dos casos em crianças com menos de cinco anos, sendo rara após os oito anos. Pode atingir crianças de todas as raças, tendo maior incidência entre os descendentes asiáticos. Caracteriza-se por febre, conjuntivite bilateral não exsudativa, eritema e edema de língua, lábios e mucosa oral, alterações de extremidades, linfonodomegalia cervical, exantema polimórfico. Aneurismas e estenoses de artérias coronárias são comuns em percentual que varia de 20 a 25% dos pacientes não tratados, podendo posteriormente levar a infarto agudo do miocárdio e morte súbita. O tratamento com imunoglobulina intravenosa é efetivo e deve ser iniciado precocemente a fim de evitar sequelas cardíacas. O desenvolvimento de testes diagnósticos, terapêuticas mais específicas e a prevenção dessa doença potencialmente fatal em crianças dependem dos contínuos avanços na determinação de sua etiopatogenia.Kawasaki disease is a systemic acute vasculitis of unknown etiology. It is the leading cause of acquired heart disease in children in the USA. It occurs more frequently in boys and eighty percent of the cases occur in children under five years of age. The disease rarely occurs after eight years and it can affect children of all races, with higher incidence among Asian descendants. Kawasaki disease is characterized by fever, bilateral non-exudative conjunctivitis, redness and swelling of the tongue, lips and oral mucosa, abnormalities in the extremities, cervical lymph node, and polymorphic exanthema. Aneurysms and stenoses of coronary arteries occur in pproximately 20 to 25% of untreated patients and subsequently can lead to acute myocardial infarction and sudden death. Treatment with intravenous immunoglobulin is effective and should be initiated

  15. Tomographic myocardial perfusion scintigraphy in children with Kawasaki disease

    International Nuclear Information System (INIS)

    Spielmann, R.P.; Nienaber, C.A.; Hausdorf, G.; Montz, R.

    1987-01-01

    Myocardial infarction and stenotic coronary lesions are serious late complications in children with Kawasaki disease. For the noninvasive assessment of myocardial perfusion, dipyridamole-redistribution 201 Tl emission computed tomography (ECT) was performed in seven children (age 2 8/12-8 7/12 yr) 3-20 mo after the acute stage of the disease. In all patients, coronary aneurysms had been demonstrated by cross-sectional echocardiography. The scintigrams of six children showed no significant regional reduction of myocardial thallium uptake. These children had remained asymptomatic since the acute stage of Kawasaki disease. Persistent and transient thallium defects were present in one child with documented myocardial infarction. For this patient, obstruction of corresponding coronary vessels was confirmed by contrast angiography. It is suggested, that 201 Tl ECT after dipyridamole-induced vasodilation may be used as a safe alternative to invasive coronary angiography for follow-up investigations in patients with Kawasaki disease

  16. Spontaneous closure of patent ductus arteriosus after an episode of Kawasaki disease: a case report

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    Lin Ming-Chih

    2012-01-01

    Full Text Available Abstract Introduction Kawasaki disease is regarded as systemic vasculitis. Many experts believe that not only coronary arteries but also other small arteries are involved during the period of systemic inflammation. However, the evidence to support this point view is limited. Case presentation We report the case of a one-year-four-month-old Taiwanese girl whose patent ductus arteriosus was incidentally found during an episode of Kawasaki disease. The ductus closed spontaneously after the acute phase of Kawasaki disease. Conclusions In this patient, the patent ductus arteriosus may have closed spontaneously after Kawasaki disease due to its involvement in the generalized vasculitis that this disease incurs. This would support the theory that the vasculitis of Kawasaki disease is limited not only to coronary arteries but also to all medium- sized arteries.

  17. Multimodality Cardiac Imaging in a Patient with Kawasaki Disease and Giant Aneurysms

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    Ranjini Srinivasan

    2016-01-01

    Full Text Available Kawasaki disease is a well-known cause of acquired cardiac disease in the pediatric and adult population, most prevalent in Japan but also seen commonly in the United States. In the era of intravenous immunoglobulin (IVIG treatment, the morbidity associated with this disease has decreased, but it remains a serious illness. Here we present the case of an adolescent, initially diagnosed with Kawasaki disease as an infant, that progressed to giant aneurysm formation and calcification of the coronary arteries. We review his case and the literature, focusing on the integral role of multimodality imaging in managing Kawasaki disease.

  18. Natriuretic Peptides in Kawasaki Disease: the Myocardial Perspective

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    Nagib Dahdah

    2013-01-01

    Full Text Available Making a diagnosis of Kawasaki disease with certainty may be challenging, especially since the recognition of cases with incomplete diagnostic criteria and its consequences. In order to build the diagnostic case in daily practice, clinicians rely on clinical criteria established over four decades ago, aided by non specific laboratory tests, and above all inspired by experience. We have recently studied the diagnostic value of N-terminal pro B-type natriuretic peptide to improve the diagnostic certainty of cases with complete or incomplete clinical criteria. Our working hypothesis was based on the fact that myocarditis is present in nearly all Kawasaki disease patients supported by histology data. In this paper, we review these facts and the myocardial perspective from the diagnostic and the mechanistic standpoints.

  19. Coronary artery calcification in Kawasaki disease

    International Nuclear Information System (INIS)

    Ino, T.; Shimazaki, S.; Akimoto, K.; Park, I.; Nishimoto, K.; Yabuta, K.; Tanaka, A.

    1990-01-01

    To evaluate the angiographic features of coronary lesions in Kawasaki disease with coronary artery calcification, cinefluoroscopy and cineangiography were retrospectively reviewed in 116 patients who had undergone coronary angiography between 1982 and 1989. Angiographic abnormalities of coronary arteries were demonstrated in 55 of 116 patients. In 5 (9.1%) of the 55 patients, 9 with calcification were identified by cinefluoroscopy and chest X-ray. Eight of the 9 calcified lesions showed a circular or ring-shape configuration. Coronary angiography revealed a total occlusion of the right coronary artery with collateral circulation from the distal left coronary artery in 2 patients and a severe stenosis of the right coronary artery in 2 patients, in whom anticoagulant therapy had not been continued during the follow-up periods. The remaining patient in whom anticoagulant therapy had been continued had bilateral aneurysms but no significant stenosis. These results indicate that a ring-shape calcification on chest X-ray in 2 patients with a history of Kawasaki disease may suggest an involvement by coronary artery stenosis even when anticoagulant drugs had been given. Therefore, coronary angiography should be performed to evaluate the stenotic lesions if this type of calcification is found by routine radiographic examination. (orig.)

  20. Enfermedad de Kawasaki en un infante Kawasaki disease in a child

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    José Luis Lobaina Lafita

    2012-11-01

    Full Text Available Se presenta el caso clínico de un infante de 4 años de edad, con antecedente de amigdalitis a repetición, ingresado en el Hospital Infantil Norte Docente "Dr. Juan de la Cruz Martínez Maceira" de Santiago de Cuba por presentar, desde hacía 9 días, fiebre de 38 y 39 °C, odinofagia, aumento de volumen del cuello y erupción cutánea generalizada. Teniendo en cuenta el examen físico y los resultados de los estudios complementarios efectuados se diagnosticó la enfermedad de Kawasaki, por lo cual se indicó tratamiento con Intacglobin®, Aspirina® y vitaminoterapia. El paciente evolucionó favorablemente y egresó de la institución hospitalaria sin complicaciones.The case of a 4 year-old child with history of recurrent tonsillitis, who was admitted to "Dr. Juan de la Cruz Martínez Maceira" Northern Teaching Children Hospital of Santiago de Cuba is reported for presenting with temperature of 38 and 39°C, odynophagia, enlargement of the neck and generalized rash in the past nine days. Based on physical examination and the results of complementary tests the Kawasaki disease was diagnosed, for which a treatment with Intacglobin®, Aspirin®, and vitamin therapy was indicated. The patient made good progress and was discharged from the hospital without complications.

  1. Recurrent Kawasaki disease: USA and Japan.

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    Maddox, Ryan A; Holman, Robert C; Uehara, Ritei; Callinan, Laura S; Guest, Jodie L; Schonberger, Lawrence B; Nakamura, Yosikazu; Yashiro, Mayumi; Belay, Ermias D

    2015-12-01

    Descriptive epidemiologic studies of recurrent and non-recurrent Kawasaki disease (KD) may identify other potentially important differences between these illnesses. Data from the USA and Japan, the Centers for Disease Control and Prevention (CDC) national KD surveillance(1984-2008) and the 17th Japanese nationwide survey (2001-2002), respectively, were analyzed to examine recurrent KD patients <18 years of age meeting the CDC KD case or atypical KD case definition. These patients were compared with non-recurrent KD patients. Of the 5557 US KD patients <18 years of age during 1984-2008, 97 (1.7%) were identified as having had recurrent KD. Among the US Asian/Pacific Islander KD patients, 3.5% had recurrent KD, which was similar to the percentage identified among KD patients (3.5%) in the Japanese survey. Compared with non-recurrent KD patients, KD patients [with recurrent KD] were more likely to be older, fulfill the atypical KD case definition, and have coronary artery abnormalities (CAA) despite i.v. immunoglobulin (IVIG) treatment. Differences in the age, race, and frequency of CAA exist between recurrent and non-recurrent KD patients. The increased association of CAA with recurrent KD suggests that more aggressive treatment strategies in conjunction with IVIG may be indicated for the second episode of KD. © 2015 Japan Pediatric Society.

  2. Recurrent Kawasaki disease, United States and Japan

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    Maddox, Ryan A.; Holman, Robert C.; Uehara, Ritei; Callinan, Laura S.; Guest, Jodie L.; Schonberger, Lawrence B.; Nakamura, Yosikazu; Yashiro, Mayumi; Belay, Ermias D.

    2015-01-01

    Background Descriptive epidemiologic studies of recurrent and non-recurrent Kawasaki disease (KD) may identify other potentially important differences between these illnesses. Methods Data from the United States and Japan, the Centers for Disease Control and Prevention (CDC) national KD surveillance (1984–2008) and the 17th Japanese nationwide survey (2001–2002), respectively, were analyzed to examine recurrent KD patients <18 years of age meeting the CDC KD case or atypical KD case definition. These patients were compared to non-recurrent KD patients. Results Of the 5557 US KD patients <18 years of age during 1984–2008, 97 (1.7%) were identified as having had recurrent KD. Among the US Asian/Pacific Islander KD patients, 3.5% had recurrent KD, which was similar to the percentage identified among KD patients (3.5%) in the Japanese survey. Compared to non-recurrent KD patients, KD patients experiencing a recurrent KD episode were more likely to be older, fulfill the atypical KD case definition, and have coronary artery abnormalities (CAA) despite IVIG treatment. Conclusions Differences in the age, race, and frequency of CAA exist between recurrent and non-recurrent KD patients. The increased association of CAA with recurrent KD suggests that more aggressive treatment strategies in conjunction with IVIG may be indicated for the second episode of KD. PMID:26096590

  3. Adult Kawasaki's disease with myocarditis, splenomegaly, and highly elevated serum ferritin levels.

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    Cunha, Burke A; Pherez, Francisco M; Alexiadis, Varvara; Gagos, Marios; Strollo, Stephanie

    2010-01-01

    Kawasaki's disease is a disease of unknown cause. The characteristic clinical features of Kawasaki's disease are fever> or =102 degrees F for> or =5 days accompanied by a bilateral bulbar conjunctivitis/conjunctival suffusion, erythematous rash, cervical adenopathy, pharyngeal erythema, and swelling of the dorsum of the hands/feet. Kawasaki's disease primarily affects children and is rare in adults. In children, Kawasaki's disease is more likely to be associated with aseptic meningitis, coronary artery aneurysms, and thrombocytosis. In adult Kawasaki's disease, unilateral cervical adenopathy, arthritis, conjunctival suffusion/conjunctivitis, and elevated serum transaminases (serum glutamic oxaloacetic transaminase [SGOT]/serum glutamate pyruvate transaminase [SGPT]) are more likely. Kawasaki's disease in adults may be mimicked by other acute infections with fever and rash, that is, group A streptococcal scarlet fever, toxic shock syndrome (TSS), and Rocky Mountain Spotted Fever (RMSF). Because there are no specific tests for Kawasaki's disease, diagnosis is based on clinical criteria and the syndromic approach. In addition to rash and fever, scarlet fever is characterized by circumoral pallor, oropharyngeal edema, Pastia's lines, and peripheral eosinophilia, but not conjunctival suffusion, splenomegaly, swelling of the dorsum of the hands/feet, thrombocytosis, or an elevated SGOT/SGPT. In TSS, in addition to rash and fever, there is conjunctival suffusion, oropharyngeal erythema, and edema of the dorsum of the hands/feet, an elevated SGOT/SGPT, and thrombocytopenia. Patients with TSS do not have cervical adenopathy or splenomegaly. RMSF presents with fever and a maculopapular rash that becomes petechial, first appearing on the wrists/ankles after 3 to 5 days. RMSF is accompanied by a prominent headache, periorbital edema, conjunctival suffusion, splenomegaly, thrombocytopenia, an elevated SGOT/SGPT, swelling of the dorsum of the hands/feet, but not oropharyngeal

  4. Use of Corticosteroid in Children with Unresponsiveness to Intravenous Immunoglobulin in Kawasaki Disease

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    Abdolkarim Hamedi

    2017-08-01

    Full Text Available Background Kawasaki Disease (KD is a vasculitis with multi-organ involvementof unknown etiology; it is the most common cause of pediatric-heart diseases in developed countries. Treatment with Intravenous Immunoglobulin (IVIG prevents coronary artery lesions; although there are some IVIG-resistant cases, combination therapy with corticosteroids and IVIG is one of the recommendations for treatment of these cases. The aim of this study was to compare these three options for treatment of Kawasaki Disease and to evaluate their ability to deal with coronary artery complication of Kawasaki Disease. Materials and Methods A prospective cross- sectional study of hospitalized cases of Kawasaki Disease, conducted in pediatric department of Imam Reza hospital, Mashhad-Iran, during 2013 to 2015 (18 months. Based on demographic and clinical data of these patients, children with high risk of unresponsiveness to IVIG therapy (based on Harada score, were determined and treated with IVIG and corticosteroids- combination initially. Follow-up patients for heart complications were 6 weeks. Results Twenty five patients (89.2% out of total 28 hospitalized patients in this period of time who fulfilled diagnostic criteria were considered as complete Kawasaki Disease. Coronary Artery Lesions (CALs were shown in 4 patients during the follow-up period, with high risk in patients with incomplete presentation (33.3% versus 12%, P

  5. Kawasaki disease in Ghana: Case reports from Korle Bu Teaching ...

    African Journals Online (AJOL)

    Kawasaki disease, an acute febrile vasculitis, predominantly affects children under the age of 5 years and is thought to be a rare disease in the developing world. . It has previously never been reported in Ghana. We report 3 cases from February, 2007 to February, 2008. This potentially serious disease has no definitive ...

  6. Seasonality of Kawasaki Disease: A Global Perspective

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    Burns, Jane C.; Herzog, Lauren; Fabri, Olivia; Tremoulet, Adriana H.; Rodó, Xavier; Uehara, Ritei; Burgner, David; Bainto, Emelia; Pierce, David; Tyree, Mary; Cayan, Daniel

    2013-01-01

    Background Understanding global seasonal patterns of Kawasaki disease (KD) may provide insight into the etiology of this vasculitis that is now the most common cause of acquired heart disease in children in developed countries worldwide. Methods Data from 1970-2012 from 25 countries distributed over the globe were analyzed for seasonality. The number of KD cases from each location was normalized to minimize the influence of greater numbers from certain locations. The presence of seasonal variation of KD at the individual locations was evaluated using three different tests: time series modeling, spectral analysis, and a Monte Carlo technique. Results A defined seasonal structure emerged demonstrating broad coherence in fluctuations in KD cases across the Northern Hemisphere extra-tropical latitudes. In the extra-tropical latitudes of the Northern Hemisphere, KD case numbers were highest in January through March and approximately 40% higher than in the months of lowest case numbers from August through October. Datasets were much sparser in the tropics and the Southern Hemisphere extra-tropics and statistical significance of the seasonality tests was weak, but suggested a maximum in May through June, with approximately 30% higher number of cases than in the least active months of February, March and October. The seasonal pattern in the Northern Hemisphere extra-tropics was consistent across the first and second halves of the sample period. Conclusion Using the first global KD time series, analysis of sites located in the Northern Hemisphere extra-tropics revealed statistically significant and consistent seasonal fluctuations in KD case numbers with high numbers in winter and low numbers in late summer and fall. Neither the tropics nor the Southern Hemisphere extra-tropics registered a statistically significant aggregate seasonal cycle. These data suggest a seasonal exposure to a KD agent that operates over large geographic regions and is concentrated during winter

  7. CLINICAL MANIFESTATION, DIAGNOSTICS AND TREATMENT OF KAWASAKI DISEASE: KNOWN DATA AND UNSOLVED QUESTIONS

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    G. А. Lyskina

    2013-01-01

    Full Text Available The lecture deals with the most common systemic vasculitis in pediatric practice — Kawasaki disease. This disorder is associated with risk of myocardial infarction and sudden cardiac death in children and young adults and at present is considered to be the main cause of the acquired heard diseases in children. The authors give historical aspects and modern opinions on etiology, pathogenesis, clinical manifestation, diagnostics and treatment of Kawasaki disease. The data were summarized from Russian and foreign literature as well as from the own authors’ experience.

  8. Procalcitonin Levels in Patients with Complete and Incomplete Kawasaki Disease

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    Hwa Jin Cho

    2013-01-01

    Full Text Available Incomplete Kawasaki disease (iKD is considered to be a less complete form of Kawasaki disease (cKD, and several differences in the laboratory presentations of iKD and cKD have been noted. We investigated serum procalcitonin levels in patients with iKD, cKD, and other febrile diseases (a control group. Seventy-seven patients with cKD, 24 with iKD, and 41 controls admitted to our hospital from November 2009 to November 2011 were enrolled in the present study. We obtained four measurements of serum procalcitonin levels and those of other inflammatory markers from each patient. Samples were taken for analysis on the day of diagnosis (thus before treatment commenced; D0 and 2 (D2, 14 (D14, and 56 days (D56 after intravenous immunoglobulin infusion. We obtained control group data at D0. The mean D0 serum procalcitonin levels of cKD patients (0.71±1.36 ng/mL and controls (0.67±1.06 ng/mL were significantly higher than those of iKD patients (0.26±0.26 ng/mL (P=0.014 and P=0.041, resp.. No significant difference in mean procalcitonin level was evident among groups at any subsequent time. In conclusion, the serum procalcitonin level of patients with acute-stage cKD was significantly higher than that of iKD patients.

  9. Blood N-terminal Pro-brain Natriuretic Peptide and Interleukin-17 for Distinguishing Incomplete Kawasaki Disease from Infectious Diseases.

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    Wu, Ling; Chen, Yuanling; Zhong, Shiling; Li, Yunyan; Dai, Xiahua; Di, Yazhen

    2015-06-01

    To explore the diagnostic value of blood N-terminal pro-brain natriuretic peptide (NT-proBNP) and interleukin-17(IL-17) for incomplete Kawasaki disease. Patients with Kawasaki disease, Incomplete Kawasaki disease and unclear infectious fever were included in this retrospective study. Their clinical features, and laboratory test results of blood NT-proBNP and IL-17 were collected and compared. 766 patients with complete clinical information were recruited, consisting of 291 cases of Kawasaki disease, 74 cases of incomplete Kawasaki disease, and 401 cases of unclear infectious diseases. When the consistency with indicator 2 and 3 in Kawasaki disease diagnosis criteria was assessed with blood IL-17 ?11.55 pg/mL and blood NT-proBNP ? 225.5 pg/dL as the criteria, the sensitivity and specificity for distinguishing incomplete Kawasaki disease and infectious diseases reached 86.5% and 94.8%, respectively. When we chose the consistency with indicator 1 and 2 in Kawasaki disease diagnosis criteria, the appearance of decrustation and/or the BCG erythema, blood IL-17 ?11.55 pg/mL and blood NT-Pro BNP ?225.5 pg/dL as the criteria, the sensitivity and specificity for distinguishing incomplete Kawasaki disease and infectious diseases was 43.2% and 100%, respectively. Blood NT-proBNP and IL-17 are useful laboratory indicators for distinguishing incomplete Kawasaki disease and infectious diseases at the early stage.

  10. Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease

    NARCIS (Netherlands)

    Khor, Chiea Chuen; Davila, Sonia; Breunis, Willemijn B.; Lee, Yi-Ching; Shimizu, Chisato; Wright, Victoria J.; Yeung, Rae S. M.; Tan, Dennis E. K.; Sim, Kar Seng; Wang, Jie Jin; Wong, Tien Yin; Pang, Junxiong; Mitchell, Paul; Cimaz, Rolando; Dahdah, Nagib; Cheung, Yiu-Fai; Huang, Guo-Ying; Yang, Wanling; Park, In-Sook; Lee, Jong-Keuk; Wu, Jer-Yuarn; Levin, Michael; Burns, Jane C.; Burgner, David; Kuijpers, Taco W.; Hibberd, Martin L.; Lau, Yu-Lung; Zhang, Jing; Ma, Xiao-Jing; Liu, Fang; Wu, Lin; Yoo, Jeong-Jin; Hong, Soo-Jong; Kim, Kwi-Joo; Kim, Jae-Jung; Park, Young-Mi; Mi Hong, Young; Sohn, Sejung; Young Jang, Gi; Ha, Kee-Soo; Nam, Hyo-Kyoung; Byeon, Jung-Hye; Weon Yun, Sin; Ki Han, Myung; Lee, Kyung-Yil; Hwang, Ja-Young; Kuipers, Irene M.; Ottenkamp, Jaap J.; Biezeveld, Maarten; Tacke, Carline

    2011-01-01

    Kawasaki disease is a systemic vasculitis of unknown etiology, with clinical observations suggesting a substantial genetic contribution to disease susceptibility. We conducted a genome-wide association study and replication analysis in 2,173 individuals with Kawasaki disease and 9,383 controls from

  11. Childhood vaccines and Kawasaki disease, Vaccine Safety Datalink, 1996-2006.

    Science.gov (United States)

    Abrams, Joseph Y; Weintraub, Eric S; Baggs, James M; McCarthy, Natalie L; Schonberger, Lawrence B; Lee, Grace M; Klein, Nicola P; Belongia, Edward A; Jackson, Michael L; Naleway, Allison L; Nordin, James D; Hambidge, Simon J; Belay, Ermias D

    2015-01-03

    Kawasaki disease is a childhood vascular disorder of unknown etiology. Concerns have been raised about vaccinations being a potential risk factor for Kawasaki disease. Data from the Vaccine Safety Datalink were collected on children aged 0-6 years at seven managed care organizations across the United States. Defining exposure as one of several time periods up to 42 days after vaccination, we conducted Poisson regressions controlling for age, sex, season, and managed care organization to determine if rates of physician-diagnosed and verified Kawasaki disease were elevated following vaccination compared to rates during all unexposed periods. We also performed case-crossover analyses to control for unmeasured confounding. A total of 1,721,186 children aged 0-6 years from seven managed care organizations were followed for a combined 4,417,766 person-years. The rate of verified Kawasaki disease was significantly lower during the 1-42 days after vaccination (rate ratio=0.50, 95% CL=0.27-0.92) and 8-42 days after vaccination (rate ratio=0.45, 95% CL=0.22-0.90) compared to rates during unexposed periods. Breaking down the analysis by vaccination category did not identify a subset of vaccines which was solely responsible for this association. The case-crossover analyses revealed that children with Kawasaki disease had lower rates of vaccination in the 42 days prior to symptom onset for both physician-diagnosed Kawasaki disease (rate ratio=0.79, 95% CL=0.64-0.97) and verified Kawasaki disease (rate ratio=0.38, 95% CL=0.20-0.75). Childhood vaccinations' studied did not increase the risk of Kawasaki disease; conversely, vaccination was associated with a transient decrease in Kawasaki disease incidence. Verifying and understanding this potential protective effect could yield clues to the underlying etiology of Kawasaki disease. Copyright © 2014. Published by Elsevier Ltd.

  12. [Giant coronary aneurysms in infants with Kawasaki disease].

    Science.gov (United States)

    Sánchez Andrés, Antonio; Salvador Mercader, Inmaculada; Seller Moya, Julia; Carrasco Moreno, José Ignacio

    2017-08-01

    Kawasaki disease (KD) is an acute vasculitis of unknown origin and predominant in males. The long-term effects of the disease depend on whether there are coronary lesions, particularly aneurysms. The prognosis of patients with giant aneurysms is very poor due to their natural progression to coronary thrombosis or severe obstructive lesions. A series of 8 cases is presented where the epidemiology and diagnostic methods are described. The treatment of the acute and long-term cardiovascular sequelae is also reviewed. A descriptive analysis was conducted on patients admitted to the Paediatric Cardiology Unit of La Fe University Hospital (Valencia) with KD and a coronary lesion. More than one artery was involved in all patients. Although early diagnosis was established in only two cases, none of the patients had severe impairment of ventricular function during the acute phase. Treatment included intravenous gammaglobulin and acetylsalicylic acid at anti-inflammatory doses during the acute phase. A combination of dual antiplatelet therapy and corticosteroids was given in cases of coronary thrombosis. The silent aneurysms continue to persist. KD is the most common cause of acquired heart disease in children. The delay in diagnosis is associated with a greater likelihood of coronary lesions that could increase the risk of cardiovascular events in adulthood. Thus, this subgroup requires close clinical monitoring for a better control of cardiovascular risk factors over time. Copyright © 2016 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  13. Septated pericarditis associated with Kawasaki disease: a brief case report.

    Science.gov (United States)

    Sonçaği, Arzu; Devrim, Ilker; Karagöz, Tevfik; Dilber, Embiya; Celiker, Alpay; Ozen, Seza; Seçmeer, Gülten

    2007-01-01

    Kawasaki disease (KD) is primarily the systemic vasculitis of childhood that affects mainly the medium-sized arteries, such as the coronary arteries. KD is the leading cause of acquired heart disease, whereas the incidence of rheumatic fever has declined. The most serious complication is coronary artery involvement. Among the children with KD who developed cardiac complications, pericarditis is a rare complication, with an incidence of 0.07%. We report our experience in a 5.5-year-old child with KD complicated with aneurysm of the left anterior descendant coronary artery and septated pericardial effusion, which has not been reported in the literature. The pericardial effusion disappeared very dramatically with intravenous immunoglobulin (IVIG) therapy. We would like to point out that septated pericardial effusion in cases of KD do not need any further therapy other than IVIG and high-dose acetylsalicylic acid.

  14. Kawasaki Disease with Retropharyngeal Edema following a Blackfly Bite

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    Toru Watanabe

    2014-01-01

    Full Text Available We describe a patient with Kawasaki disease (KD and retropharyngeal edema following a blackfly bite. An 8-year-old boy was referred to our hospital because of a 3-day-history of fever and left neck swelling and redness after a blackfly bite. Computed tomography of the neck revealed left cervical lymph nodes swelling with edema, increased density of the adjacent subcutaneous tissue layer, and low density of the retropharyngeum. The patient was initially presumed to have cervical cellulitis, lymphadenitis, and retropharyngeal abscess. He was administered antibiotics intravenously, which did not improve his condition. The patient subsequently exhibited other signs of KD and was diagnosed with KD and retropharyngeal edema. Intravenous immunoglobulin therapy and oral flurbiprofen completely resolved the symptoms and signs. A blackfly bite sometimes incites a systemic reaction in humans due to a hypersensitive reaction to salivary secretions, which may have contributed to the development of KD in our patient.

  15. Association between Kawasaki Disease and Autism: A Population-Based Study in Taiwan

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    Ho-Chang Kuo

    2014-04-01

    Full Text Available Objective: The association between Kawasaki disease and autism has rarely been studied in Asian populations. By using a nationwide Taiwanese population-based claims database, we tested the hypothesis that Kawasaki disease may increase the risk of autism in Taiwan. Materials and Methods: Our study cohort consisted of patients who had received the diagnosis of Kawasaki disease (ICD-9-CM: 446.1 between 1997 and 2005 (N = 563. For a comparison cohort, five age- and gender-matched control patients for every patient in the study cohort were selected using random sampling (N = 2,815. All subjects were tracked for 5 years from the date of cohort entry to identify whether they had developed autism (ICD-9-CM code 299.0 or not. Cox proportional hazard regressions were then performed to evaluate 5-year autism-free survival rates. Results: The main finding of this study was that patients with Kawasaki disease seem to not be at increased risk of developing autism. Of the total patients, four patients developed autism during the 5-year follow-up period, among whom two were Kawasaki disease patients and two were in the comparison cohort. Further, the adjusted hazard ratios (AHR (AHR: 4.81; 95% confidence interval: 0.68–34.35; P = 0.117 did not show any statistical significance between the Kawasaki disease group and the control group during the 5-year follow-up. Conclusion: Our study indicated that patients with Kawasaki disease are not at increased risk of autism.

  16. Parental anxiety associated with Kawasaki disease in previously healthy children.

    Science.gov (United States)

    Chahal, Nita; Clarizia, Nadia A; McCrindle, Brian W; Boydell, Katherine M; Obadia, Maya; Manlhiot, Cedric; Dillenburg, Rejane; Yeung, Rae S M

    2010-01-01

    The objective of this study was to explore the lived experience of parents of children diagnosed with Kawasaki disease (KD) and to identify factors associated with increased levels of parental anxiety. Three focus groups were conducted including 25 parents of 17 patients with KD, seven (41%) of whom had coronary artery complications. A conceptual model was developed to depict parental experiences and illustrate the key issues related to heightened anxiety. Themes identified included anxiety related to the child's sudden illness and delay in obtaining a correct diagnosis because of the lack of health care providers' awareness and knowledge regarding KD. Parents were frustrated by the lack of information available in lay language and the limited scientific knowledge regarding the long-term consequences of the disease. Parents also reported positive transformations and different perspective toward challenges in life. However, the parents of children with coronary artery complications expressed persistent anxiety even years after the acute phase of the illness due to the uncertainty of the long-term prognosis. There remains a critical need for richly textured research data on the perspective and experience of families of children with KD. Copyright 2010 National Association of Pediatric Nurse Practitioners. Published by Mosby, Inc. All rights reserved.

  17. Atrioventricular depolarization differences identify coronary artery anomalies in Kawasaki disease.

    Science.gov (United States)

    Cortez, Daniel; Sharma, Nandita; Jone, Pei-Ni

    2017-03-01

    Kawasaki disease (KD) is the leading cause of acquired heart disease in children. Signal average electrocardiogram changes in patients during the acute phase of KD with coronary artery anomalies (CAA) include depolarization changes. We set out to determine if 12-lead-derived atrioventricular depolarization differences can identify CAA in patients with KD. A blinded, retrospective case-control study of patients with KD was performed. Deep Q waves, corrected QT-intervals (QTc), spatial QRS-T angles, T-wave vector magnitudes (RMS-T), and a novel parameter for assessment of atrioventricular depolarization difference (the spatial PR angle) and a two dimensional PR angle were assessed. Comparisons between groups were performed to test for significant differences. One hundred one patients with KD were evaluated, with 68 having CAA (67.3%, mean age 3.6 ± 3.0 years, 82.6% male), and 32 without CAA (31.7%, mean age 2.7 ± 3.2 years, 70.4% male). The spatial PR angle significantly discriminated KD patients with CAA from those without, 59.7° ± 31.1° versus 41.6° ± 11.5° (p differences, measured by the spatial or two dimensional PR angle differentiate KD patients with CAA versus those without. © 2016 Wiley Periodicals, Inc.

  18. Differential expression of miR-145 in children with Kawasaki disease.

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    Chisato Shimizu

    Full Text Available Kawasaki disease is an acute, self-limited vasculitis of childhood that can result in structural damage to the coronary arteries. Previous studies have implicated the TGF-β pathway in disease pathogenesis and generation of myofibroblasts in the arterial wall. microRNAs are small non-coding RNAs that modulate gene expression at the post-transcriptional level and can be transported between cells in extracellular vesicles. To understand the role that microRNAs play in modifying gene expression in Kawasaki disease, we studied microRNAs from whole blood during the acute and convalescent stages of the illness.RNA isolated from the matched whole blood of 12 patients with acute and convalescent Kawasaki disease were analyzed by sequencing of small RNA. This analysis revealed six microRNAs (miRs-143, -199b-5p, -618, -223, -145 and -145* (complementary strand whose levels were significantly elevated during the acute phase of Kawasaki disease. The result was validated using targeted qRT-PCR using an independent cohort (n = 16. miR-145, which plays a critical role in the differentiation of neutrophils and vascular smooth muscle cells, was expressed at high levels in blood samples from acute Kawasaki disease but not adenovirus-infected control patients (p = 0.005. miR-145 was also detected in small extracellular vesicles isolated from acute Kawasaki disease plasma samples. Pathway analysis of the predicted targets of the 6 differentially expressed microRNAs identified the TGF-β pathway as the top pathway regulated by microRNAs in Kawasaki disease.Sequencing of small RNA species allowed discovery of microRNAs that may participate in Kawasaki disease pathogenesis. miR-145 may participate, along with other differentially expressed microRNAs, in regulating expression of genes in the TGF-β pathway during the acute illness. If the predicted target genes are confirmed, our findings suggest a model of Kawasaki disease pathogenesis whereby miR-145 modulates TGF

  19. Dipyridamole-thallium-201 tomography documenting improved myocardial perfusion with therapy in Kawasaki disease

    International Nuclear Information System (INIS)

    Nienaber, C.A.; Spielmann, R.P.; Hausdorf, G.

    1988-01-01

    Thallium-201 tomographic perfusion studies after pharmacologic vasodilation were performed in seven children (aged 2 years 8 months to 8 years 7 months), 3 to 20 months after the acute stage of the disease. In all patients coronary aneurysms were seen on cross-sectional echocardiograms. The scintigrams of six children showed no significant regional reduction of myocardial thallium-201 uptake. These children had remained asymptomatic in the follow-up period after the acute inflammatory stage of Kawasaki disease. Persistent and transient thallium defects were present in one child with acute posterolateral myocardial infarction; obstruction of two coronary vessels supplying the defect zones was confirmed by contrast angiography. After 8 months of treatment a follow-up nuclear scan showed marked reduction in the size of the defect and almost complete abolishment of the ischemic reaction. Thus tomographic thallium-201 perfusion scintigraphy in conjunction with vasodilation stress is useful to assess myocardial perfusion in children with Kawasaki disease and demonstrates marked improvement in regional perfusion after adequate medical therapy

  20. Crystalline-Like Keratopathy after Intravenous Immunoglobulin Therapy with Incomplete Kawasaki Disease: Case Report and Literature Review

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    Elif Erdem

    2013-01-01

    Full Text Available A 7-year-old girl had presented with high body temperature and joint pain which continued for 3 days. Because of the prolonged history of unexplained fever, rash, bilateral nonpurulent conjunctival injection, oropharyngeal erythema, strawberry tongue, and extreme of age, incomplete Kawasaki disease was considered and started on an intravenous immunoglobulin infusion. Six days after this treatment, patient was referred to eye clinic with decreased vision and photophobia. Visual acuity was reduced to 20/40 in both eyes. Slit-lamp examination revealed bilateral diffuse corneal punctate epitheliopathy and anterior stromal haze. Corneal epitheliopathy seemed like crystal deposits. One day after presentation, mild anterior uveitis was added to clinical picture. All ocular findings disappeared in one week with topical steroid and unpreserved artificial tear drops. We present a case who was diagnosed as incomplete Kawasaki disease along with bilateral diffuse crystalline-like keratopathy. We supposed that unusual ocular presentation may be associated with intravenous immunoglobulin treatment.

  1. Characteristics and Fate of Systemic Artery Aneurysm after Kawasaki Disease.

    Science.gov (United States)

    Hoshino, Shinsuke; Tsuda, Etsuko; Yamada, Osamu

    2015-07-01

    To determine the long-term outcome of systemic artery aneurysms (SAAs) after Kawasaki disease (KD). We investigated the characteristics and the fate of SAAs in 20 patients using medical records and angiograms. The age of onset of KD ranged from 1 month to 20 months. The interval from the onset of KD to the latest angiogram ranged from 16 months to 24 years. The regression rate of peripheral artery aneurysm and the frequency of stenotic lesions were analyzed by the Kaplan-Meier method in 11 patients who had undergone initial angiography within 4 months. The mean duration of fever was 24 ± 12 days. All 20 patients had at least 1 symmetric pair of aneurysms in bilateral peripheral arteries, and 16 patients had multiple SAAs. The distributions of SAAs was as follows: brachial artery, 30; common iliac artery, 20; internal iliac artery, 21; abdominal aortic aneurysm, 7; and others, 29. The frequencies of regression of SAA and of the occurrence of stenotic lesions at 20 years after the onset of KD were 51% and 25%, respectively (n = 42). The diameter of all SAAs in the acute phase leading to stenotic lesions in the late period was >10 mm. SAAs occurred symmetrically and were multiple in younger infants and those with severe acute vasculitis. The fate of SAAs resembles that of coronary artery aneurysms, and depends on the diameter during the acute phase. Larger SAAs can lead to stenotic lesions in the late period. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Genetic variants of CD209 associated with Kawasaki disease susceptibility.

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    Ho-Chang Kuo

    Full Text Available BACKGROUND: Kawasaki disease (KD is a systemic vasculitis with unknown etiology mainly affecting children in Asian countries. Dendritic cell-specific intercellular adhesion molecule-3 grabbing non-integrin (DC-SIGN, CD209 in humans was showed to trigger an anti-inflammatory cascade and associated with KD susceptibility. This study was conducted to investigate the association between genetic polymorphisms of CD209 and the risk KD. METHODS: A total of 948 subjects (381 KD and 567 controls were recruited. Nine tagging SNPs (rs8112310, rs4804800, rs11465421, rs1544766, rs4804801, rs2287886, rs735239, rs735240, rs4804804 were selected for TaqMan allelic discrimination assay. Clinical phenotypes, coronary artery lesions (CAL and intravenous immunoglobulin (IVIG treatment outcomes were collected for analysis. RESULTS: Significant associations were found between CD209 polymorphisms (rs4804800, rs2287886, rs735240 and the risk of KD. Haplotype analysis for CD209 polymorphisms showed that A/A/G haplotype (P = 0.0002, OR = 1.61 and G/A/G haplotype (P = 0.0365, OR = 1.52 had higher risk of KD as compared with G/G/A haplotype in rs2287886/rs735239/rs735240 pairwise allele analysis. There were no significant association in KD with regards to CAL formation and IVIG treatment responses. CONCLUSION: CD209 polymorphisms were responsible for the susceptibility of KD, but not CAL formation and IVIG treatment responsiveness.

  3. Genetic Variants of CD209 Associated with Kawasaki Disease Susceptibility

    Science.gov (United States)

    Kuo, Ho-Chang; Huang, Ying-Hsien; Chien, Shu-Chen; Yu, Hong-Ren; Hsieh, Kai-Sheng; Hsu, Yu-Wen; Chang, Wei-Chiao

    2014-01-01

    Background Kawasaki disease (KD) is a systemic vasculitis with unknown etiology mainly affecting children in Asian countries. Dendritic cell-specific intercellular adhesion molecule-3 grabbing non-integrin (DC-SIGN, CD209) in humans was showed to trigger an anti-inflammatory cascade and associated with KD susceptibility. This study was conducted to investigate the association between genetic polymorphisms of CD209 and the risk KD. Methods A total of 948 subjects (381 KD and 567 controls) were recruited. Nine tagging SNPs (rs8112310, rs4804800, rs11465421, rs1544766, rs4804801, rs2287886, rs735239, rs735240, rs4804804) were selected for TaqMan allelic discrimination assay. Clinical phenotypes, coronary artery lesions (CAL) and intravenous immunoglobulin (IVIG) treatment outcomes were collected for analysis. Results Significant associations were found between CD209 polymorphisms (rs4804800, rs2287886, rs735240) and the risk of KD. Haplotype analysis for CD209 polymorphisms showed that A/A/G haplotype (P = 0.0002, OR = 1.61) and G/A/G haplotype (P = 0.0365, OR = 1.52) had higher risk of KD as compared with G/G/A haplotype in rs2287886/rs735239/rs735240 pairwise allele analysis. There were no significant association in KD with regards to CAL formation and IVIG treatment responses. Conclusion CD209 polymorphisms were responsible for the susceptibility of KD, but not CAL formation and IVIG treatment responsiveness. PMID:25148534

  4. Safety and Efficacy of Warfarin Therapy in Kawasaki Disease.

    Science.gov (United States)

    Baker, Annette L; Vanderpluym, Christina; Gauvreau, Kimberly A; Fulton, David R; de Ferranti, Sarah D; Friedman, Kevin G; Murray, Jenna M; Brown, Loren D; Almond, Christopher S; Evans-Langhorst, Margaret; Newburger, Jane W

    2017-10-01

    To describe the safety and efficacy of warfarin for patients with Kawasaki disease and giant coronary artery aneurysms (CAAs, ≥8 mm). Giant aneurysms are managed with combined anticoagulation and antiplatelet therapies, heightening risk of bleeding complications. We reviewed the time in therapeutic range; percentage of international normalization ratios (INRs) in range (%); bleeding events, clotting events; INRs ≥6; INRs ≥5 and warfarin therapy was 7.2 years (2.3-13.3 years). Goal INR was 2.0-3.0 (n = 6) or 2.5-3.5 (n = 3), based on CAA size and history of CAA thrombosis. All patients were treated with aspirin; 1 was on dual antiplatelet therapy and warfarin. The median time in therapeutic range was 59% (37%-85%), and median percentage of INRs in range was 68% (52%-87%). INR >6 occurred in 3 patients (4 events); INRs ≥5 warfarin and aspirin, with INRs in range only two-thirds of the time. Future studies should evaluate the use of direct oral anticoagulants in children as an alternative to warfarin. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Evaluation of echogenicity of the heart in Kawasaki disease.

    Science.gov (United States)

    Nagata, Hazumu; Yamamura, Kenichiro; Uike, Kiyoshi; Nakashima, Yasutaka; Hirata, Yuichiro; Morihana, Eiji; Mizuno, Yumi; Ishikawa, Shiro; Hara, Toshiro

    2014-08-01

    Pathologic studies of the heart in patients with Kawasaki disease (KD) revealed vasculitis, valvulitis, myocarditis, and pericarditis. However, there have been no studies on the quantitative determination of multi-site echogenicity of the heart in KD patients. It is also undetermined whether the degree of echogenicity of each site of the heart in patients with KD might be related to the response to intravenous immunoglobulin (IVIG) treatment. In 81 KD patients and 30 control subjects, we prospectively analyzed echogenicity of the heart. Echogenicity was measured in four sites: coronary artery wall (CAW), mitral valve (MV), papillary muscle (PM), and ascending aortic wall (AAo wall) by the calibrated integrated backscatters (cIBs). The cIB values of all measurement sites at acute phase in KD patients were significantly higher than those in control subjects (KD patients vs control subjects; CAW, 19.8 ± 6.2 dB vs 14.5 ± 2.0 dB, p IVIG nonresponders were significantly higher than those in responders. Conclusion: Echogenicity of the heart in KD patients at the acute phase increased not only in the coronary artery wall but also in other parts of the heart. Echogenicity of CAW might be helpful in determining the unresponsiveness of IVIG treatment.

  6. Doença de Kawasaki: experiência clínica em hospital universitário Kawasaki disease: clinical experience in a university hospital

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    Angela Esposito Ferronato

    2010-06-01

    Full Text Available OBJETIVO: A doença de Kawasaki é uma vasculite sistêmica aguda de etiologia desconhecida. Seu diagnóstico baseia-se em critérios clínicos. O objetivo deste estudo foi descrever os casos de pacientes com doença de Kawasaki internados no Hospital Universitário da Universidade de São Paulo entre janeiro/2000 e junho/2008. MÉTODOS: Dentre todos os pacientes internados na Enfermaria de Pediatria no período acima, foram selecionados aqueles cujo CID de alta foi doença de Kawasaki. Realizou-se estudo descritivo por meio da análise dos prontuários dessas crianças. RESULTADOS: Foram encontrados 18 casos. A média de internações foi de 2,1 casos/ano. A idade variou de três meses a nove anos. A proporção meninos:meninas foi 1:1,25. Receberam outros diagnósticos prévios 17 pacientes, sendo escarlatina em 2/3 dos casos. O tempo de febre antes do diagnóstico variou de cinco a 11 dias. Nove crianças apresentaram quatro sinais sugestivos de doença de Kawasaki; oito apresentaram cinco sinais e uma apresentou dois sinais, o que foi considerado doença de Kawasaki incompleta. Receberam gamaglobulina 15 crianças (entre o sexto e o décimo dias de evolução e 11 (73% ficaram afebris após infusão da medicação. Os demais tiveram febre até 24 horas após a administração. Todos os pacientes realizaram ecocardiograma e três apresentaram aneurisma leve da coronária. CONCLUSÕES: A doença de Kawasaki é habitualmente confundida com outras doenças, o que causa retardo no tratamento e aumento no risco de complicações cardíacas.OBJECTIVE: Kawasaki disease is an acute systemic vasculitis of unknown etiology. Its diagnosis is based on clinical criteria. This study aimed to describe Kawasaki disease cases treated at the University Hospital of Universidade de São Paulo, from January/2000 to June/2008. METHODS: Among all patients admitted to the pediatric ward during this period, patients whose discharge ICD was Kawasaki disease were

  7. Myocardial performance and perfusion during exercise in patients with coronary artery disease caused by Kawasaki disease

    International Nuclear Information System (INIS)

    Paridon, S.M.; Ross, R.D.; Kuhns, L.R.; Pinsky, W.W.

    1990-01-01

    For a study of the natural history of coronary artery lesions after Kawasaki disease and their effect on myocardial blood flow reserve with exercise, five such patients underwent exercise testing on a bicycle. Oxygen consumption, carbon dioxide production, minute ventilation, and electrocardiograms were monitored continuously. Thallium-201 scintigraphy was performed for all patients. One patient stopped exercise before exhaustion of cardiovascular reserve but had no evidence of myocardial perfusion abnormalities. Four patients terminated exercise because of exhaustion of cardiovascular reserve; one had normal cardiovascular reserve and thallium scintiscans, but the remaining patients had diminished cardiovascular reserve. Thallium scintigrams showed myocardial ischemia in two and infarction in one. No patient had exercise-induced electrocardiographic changes. These results indicate that patients with residual coronary artery lesions after Kawasaki disease frequently have reduced cardiovascular reserve during exercise. The addition of thallium scintigraphy and metabolic measurements to exercise testing improved the detection of exercise-induced abnormalities of myocardial perfusion

  8. Predictors of nonresponse to intravenous immunoglobulin therapy in Kawasaki disease

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    Hyo Min Park

    2013-02-01

    Full Text Available &lt;b&gt;Purpose:&lt;/b&gt; It has been reported that 10% to 20% of children with Kawasaki disease (KD will not respond to intravenous immunoglobulin (IVIG treatment. In this study, we aimed to identify useful predictors of therapeutic failure in children with KD. &lt;b&gt;Methods:&lt;/b&gt; We examined 309 children diagnosed with KD at the Kyungpook National University Hospital and the Inje University Busan Paik Hospital between January 2005 and June 2011. We retrospectively reviewed their medical records and analyzed multiple parameters in responders and nonresponders to IVIG. &lt;b&gt;Results:&lt;/b&gt; Among the 309 children, 30 (9.7% did not respond to IVIG. They had significantly higher proportion of neutrophils, and higher levels of aspartate aminotransferase, alanine aminotransferase (ALT, total bilirubin, and N-terminal fragment of B-type natriuretic peptide than did responders. IVIGnonresponders had a significantly longer duration of hospitalization, and more frequently experienced coronary artery lesion, and sterile pyuria. No differences in the duration of fever at initial treatment or, clinical features were noted. &lt;b&gt;Conclusion:&lt;/b&gt; Two independent predictors (ALT?#248;4 IU/L, total bilirubin?#240;.9 mg/dL for nonresponse were confirmed through multivariate logistic regression analysis. Thus elevated ALT and total bilirubin levels might be useful in predicting nonresponse to IVIG therapy in children with KD.

  9. Kawasaki disease in Sicily: clinical description and markers of disease severity

    OpenAIRE

    Maggio, M.; Corsello, G.; Prinzi, E.; Cimaz, R.

    2016-01-01

    Background Kawasaki disease (KD) is an acute systemic vasculitis of small and middle size arteries; 15-25 % of untreated patients and 5 % of patients treated with intravenous immunoglobulin (IVIG) develop coronary artery lesions (CAL). Many studies tried to find the most effective treatment in the management of resistant KD and to select the risk factors for CAL. Our data are assessed on children from west Sicily, characterized by a genetic heterogeneity. Methods We studied the clinical data ...

  10. Facial nerve palsy in a thirteen-year-old male youth with Kawasaki disease

    NARCIS (Netherlands)

    Biezeveld, Maarten H.; Voorbrood, Bas S.; Clur, Sally-Ann B.; Kuijpers, Taco W.

    2002-01-01

    A 13-year-old male youth was hospitalized with Kawasaki disease. In the course of the disease he developed a facial nerve palsy and an aneurysm of the right coronary artery. After treatment with immunoglobulins both complications disappeared within 10 days and 1 month, respectively

  11. Quality of Life and Behavioral Functioning in Dutch Children with a History of Kawasaki Disease

    NARCIS (Netherlands)

    Tacke, Carline E.; Haverman, Lotte; Berk, Birgit M.; van Rossum, Marion A.; Kuipers, Irene M.; Grootenhuis, Martha A.; Kuijpers, Taco W.

    2012-01-01

    Objective The authors evaluated health-related quality of life (HRQOL) and behavioral functioning in patients with a history of Kawasaki disease (KD). Study design A cross-sectional study was conducted at a tertiary referral center for KD follow-up in 280 patients (mean age 8.6 years, 60.0% male).

  12. Pulse methylprednisolone therapy for impending cardiac tamponade in immunoglobulin-resistant Kawasaki disease

    NARCIS (Netherlands)

    Dahlem, P. G.; von Rosenstiel, I. A.; Lam, J.; Kuijpers, T. W.

    1999-01-01

    We describe a boy with Kawasaki disease (KD) whose clinical course was marked by a rapid improvement upon treatment with intravenous immunoglobulin (IVIG) and oral aspirin, which - within 14 days - was followed by the development of a large pericardial effusion with symptoms of impending cardiac

  13. Unexpected myocardial uptake on bone scintigraphy in an infant with Kawasaki disease

    International Nuclear Information System (INIS)

    Macdonald, W.B.G.; Troedson, R.G.

    2003-01-01

    Full text: A two-month-old female infant was admitted to hospital because of irritability and poor feeding over the preceding two weeks. There was no history of fever but serum inflammatory markers were elevated and a throat swab yielded a pure growth of Strep, pyogenes. There was no response to antibiotics. The nursing staff noted the infant disliked handling and skeletal pathology was suspected. A bone scan using Tc-99m hydroxymethylene diphosphonate (HDP) showed myocardial activity, with no evidence of abnormal skeletal activity. Subsequent echocardiography showed coronary artery ectasia, typical of Kawasaki disease, with papillary muscle dysfunction, indicating likely myocarditis. A diagnosis of myocarditis secondary to Kawasaki disease was made and the patient promptly improved following intravenous immunoglobulin therapy. Cardiac manifestations of Kawasaki disease included coronary artery aneurysms, myocardial infarction, regional perfusion abnormalities and myocarditis. Myocardial uptake of phosphate tracers is well known following myocardial infarction but there was no wall motion disturbance or ECG abnormality to suggest infarction in this patient and she was felt to have myocarditis. Myocardial uptake of phosphate tracers has not previously been reported in Kawasaki disease. Copyright (2003) The Australian and New Zealand Society of Nuclear Medicine Inc

  14. Pro-inflammatory cytokine single nucleotide polymorphisms in Kawasaki disease.

    Science.gov (United States)

    Assari, Raheleh; Aghighi, Yahya; Ziaee, Vahid; Sadr, Maryam; Rahmani, Farzaneh; Rezaei, Arezou; Sadr, Zeinab; Moradinejad, Mohammad Hassan; Raeeskarami, Seyed Reza; Rezaei, Nima

    2016-07-25

    Kawasaki disease (KD) is a systemic vasculitis of children associated with cardiovascular sequelae. Proinflammatory cytokines play a major role in KD pathogenesis. However, their role is both influenced and modified by regulatory T-cells. IL-1 gene cluster, IL-6 and TNF-α polymorphisms have shown significant associations with some vasculitides. Herein we investigated their role in KD. Fifty-five patients with KD who were randomly selected from referrals to the main pediatric hospital were enrolled in this case-control study. Single nucleotide polymorphisms (SNPs) of the following genes were assessed in patients and 140 healthy subjects as control group: IL-1α at -889 (rs1800587), IL-1β at -511 (rs16944), IL-1β at +3962 (rs1143634), IL-1R at Pst-I 1970 (rs2234650), IL-1RN/A at Mspa-I 11100 (rs315952), TNF-α at -308 (rs1800629), TNF-α at -238, IL-6 at -174 (rs1800795) and IL-6 at +565. Twenty-one percent of the control group had A allele at TNF-α -238 while only 8% of KD patients had A allele at this position (P = 0.003, OR [95%CI] = 0.32 [0.14-0.71]). Consistently, TNF-α genotype GG at -238 had significant association with KD (OR [95% CI] = 4.31 [1.79-10.73]). Most controls carried the CG genotype at IL-6 -174 (n = 93 [66.9%]) while GG genotype was the most common genotype (n = 27 [49%]) among patients. Carriers of the GG haplotype at TNF-α (-308, -238) were significantly more prevalent among the KD group. No association was found between IL-1 gene cluster, allelic or haplotypic variants and KD. TNF-α GG genotype at -238 and GG haplotype at positions -308 and -238 were associated with KD in an Iranian population. © 2016 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.

  15. [Clinical features and course of Kawasaki disease in central Tunisia: a study about 14 cases collected over a period of three years (2000-2002)].

    Science.gov (United States)

    Chemli, Jalel; Kchaou, Habib; Amri, Fethi; Belkadhi, Adel; Essoussi, Ahmed Sahloul; Gueddiche, Neji; Harbi, Abdelaziz

    2005-08-01

    To analyze the clinical features and course of Kawasaki disease in central Tunisia. We studied retrospectively 14 cases of children with Kawasaki disease collected in tunisian center during three years (2000-2002). The study is about 11 boys and 3 girls (sex - ratio: 3.6/1) aged from 6 months to 8 years (mean age : 4 years). Twelve patients had at least 5 diagnostic criteria of the illness, the two others had an incomplete form. We noted cardiac complications in seven patients treated belatedly, beyond 10 days of progression, because of atypical clinical presentations. All patients had all a middle caliber coronary aneurysm that was complicated by a thrombus in three cases, associated with pericarditis and minimal mitral insufficiency in a case and with a cardiac rhythm disturbance (block of branch) in another case. Besides the cardiac complications, several other visceral manifestation could be noted: joint symptoms in five cases, GI tract symptomes in three cases, neuro-meningeal in two cases and urinary trad symptomes in two other cases. Specific treatment (aspirin with antiinflammatory dose and intravenous immune globulin (IVIG)) has been instituted in all patients. The course was favorable for 12 patients with fast regression of clinical manifestation and progressive normalisation of biologic values. Two patients did not respond to the initial IVIG treatment, and had to recense received an additional course of IGIV but without clinical nor biological improvement. These two patients were treated with corticosteroids. Cardiac lesions disappeared completely in all patients even for those with thrombosis and in patients with IVIG-resistant Kawasaki disease. Only one patient had kept neurologic sequellae: aphasia, bevavioral problemes and partial epilepsy. Kawasaki disease is not rare in our region. Incomplete or atypical presentations are frequent and are a source of diagnostic delay. Coronary aneurysm due to the delay of treatment often regresses even in patients

  16. A positron emission tomography study of cardiac sequelae in children with Kawasaki disease, 1

    International Nuclear Information System (INIS)

    Ohmochi, Yutaka

    1994-01-01

    This study quantitatively measured regional myocardial blood flow (MBF) and perfusable tissue fraction (pTF) in 25 children (mean age: 17.2±2.7) with Kawasaki disease using positron emission tomography and H 2 15 O. Patients were divided into three groups based on coronary angiographic findings. Group 1 consisted of 11 patients with normal coronary angiograms; Group 2, 7 patients with stenotic coronary lesions. There were no significant differences in MBF and pTF among 5 divided regions on the left ventricular wall. Average MBF at rest in Group 1 was 0.91±0.19 ml/min/g. There was a poor correlation between MBF estimated positron emission tomography and patient's age in Group 1. (r=-0.374, Y=-0.0234X + 1.254: p 2 15 O, to determine the functional capacity of coronary artery lesions and myocardial damage in children with Kawasaki disease. (author)

  17. Incomplete Kawasaki disease with recurrent skin peeling: a case report with the review of literature.

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    Parmar R

    2003-01-01

    Full Text Available Kawasaki disease (KD is an acute systemic vasculitis of unknown aetiology that has largely replaced rheumatic heart disease as a cause of acquired heart disease in children of many developed countries. We report a case of incomplete KD in a five-year-old girl. The diagnosis of incomplete KD was made after exclusion of conditions with similar presentation. She was treated with intravenous immunoglobulin following which she made an uneventful recovery but demonstrated thrombocytosis in the second week of convalescence. During the six-month follow up period, she had two episodes of recurrent skin peeling a phenomenon, which is recently reported with KD but not with atypical or incomplete KD. It is important for the treating physicians to become aware of the incomplete KD as prompt diagnosis and early treatment of these patients with intravenous immunoglobulin is vital for the prevention of lethal coronary complications. Physicians need to have a "high index of suspicion" for KD and even, higher for IKD.

  18. Association of the Resistin Gene Promoter Region Polymorphism with Kawasaki Disease in Chinese Children

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    Ruixi Liu

    2012-01-01

    Full Text Available Objectives. The −420C>G polymorphism located in the resistin gene (RETN promoter has recently been suggested to play a potential role in proinflammatory conditions and cardiovascular disease. This study investigated the association of the RETN promoter polymorphism with Kawasaki disease (KD and its clinical parameters in Chinese children. Methods. We compared patients with complete KD to incomplete KD children. Genotyping of the RETN promoter polymorphism was performed using MassARRAY system, and serum resistin levels were estimated using the sandwich enzyme immunoassay method. Results. There was no significant difference in RETN (−420C>G genotypes between KD and control groups. However, the frequency of the G allele was higher in iKD patients than in cKD children due to a significantly increased frequency of the GG genotypes. Serum levels of resistin were significantly higher in KD patients than in controls regardless of the presence of coronary artery lesions (CALs. Conclusion. The present findings suggest that while resistin may play a role in the pathogenesis of KD, there is no apparent association between CAL and the RETN (−420C>G gene polymorphism in KD children. However, the diagnosis of iKD is challenging but can be supported by the presence of the G allele and the GG genotypes.

  19. Ethnic Kawasaki Disease Risk Associated with Blood Mercury and Cadmium in U.S. Children

    Science.gov (United States)

    Yeter, Deniz; Portman, Michael A.; Aschner, Michael; Farina, Marcelo; Chan, Wen-Ching; Hsieh, Kai-Sheng; Kuo, Ho-Chang

    2016-01-01

    Kawasaki disease (KD) primarily affects children <5 years of age (75%–80%) and is currently the leading cause of acquired heart disease in developed nations. Even when residing in the West, East Asian children are 10 to 20 times more likely to develop KD. We hypothesized cultural variations influencing pediatric mercury (Hg) exposure from seafood consumption may mediate ethnic KD risk among children in the United States. Hospitalization rates of KD in US children aged 0–4 years (n = 10,880) and blood Hg levels in US children aged 1–5 years (n = 713) were determined using separate US federal datasets. Our cohort primarily presented with blood Hg levels <0.1 micrograms (µg) per kg bodyweight (96.5%) that are considered normal and subtoxic. Increased ethnic KD risk was significantly associated with both increasing levels and detection rates of blood Hg or cadmium (Cd) in a linear dose-responsive manner between ethnic African, Asian, Caucasian, and Hispanic children in the US (p ≤ 0.05). Increasing low-dose exposure to Hg or Cd may induce KD or contribute to its later development in susceptible children. However, our preliminary results require further replication in other ethnic populations, in addition to more in-depth examination of metal exposure and toxicokinetics. PMID:26742052

  20. Clinical implications in laboratory parameter values in acute Kawasaki disease for early diagnosis and proper treatment.

    Science.gov (United States)

    Seo, Yu-Mi; Kang, Hyun-Mi; Lee, Sung-Churl; Yu, Jae-Won; Kil, Hong-Ryang; Rhim, Jung-Woo; Han, Ji-Whan; Lee, Kyung-Yil

    2018-05-01

    This study aimed to analyse laboratory values according to fever duration, and evaluate the relationship across these values during the acute phase of Kawasaki disease (KD) to aid in the early diagnosis for early-presenting KD and incomplete KD patients. Clinical and laboratory data of patients with KD (n=615) were evaluated according to duration of fever at presentation, and were compared between patients with and without coronary artery lesions (CALs). For evaluation of the relationships across laboratory indices, patients with a fever duration of 5 days or 6 days were used (n=204). The mean fever duration was 6.6±2.3 days, and the proportions of patients with CALs was 19.3% (n=114). C-reactive proteins (CRPs) and neutrophil differential values were highest and hemoglobin, albumin, and lymphocyte differential values were lowest in the 6-day group. Patients with CALs had longer total fever duration, higher CRP and neutrophil differential values and lower hemoglobin and albumin values compared to patients without CALs. CRP, albumin, neutrophil differential, and hemoglobin values at the peak inflammation stage of KD showed positive or negative correlations each other. The severity of systemic inflammation in KD was reflected in the laboratory values including CRP, neutrophil differential, albumin, and hemoglobin. Observing changes in these laboratory parameters by repeated examinations prior to the peak of inflammation in acute KD may aid in diagnosis of early-presenting KD patients.

  1. Kawasaki disease in Sicily: clinical description and markers of disease severity.

    Science.gov (United States)

    Maggio, Maria Cristina; Corsello, Giovanni; Prinzi, Eugenia; Cimaz, Rolando

    2016-11-02

    Kawasaki disease (KD) is an acute systemic vasculitis of small and middle size arteries; 15-25 % of untreated patients and 5 % of patients treated with intravenous immunoglobulin (IVIG) develop coronary artery lesions (CAL). Many studies tried to find the most effective treatment in the management of resistant KD and to select the risk factors for CAL. Our data are assessed on children from west Sicily, characterized by a genetic heterogeneity. We studied the clinical data of 70 KD Sicilian children (36 males: 51 %; 34 females: 49 %), analysed retrospectively, including: demographic and laboratory parameters; echocardiographic findings at diagnosis, at 2, 6 and 8 weeks, and at 1 year after the onset of the illness. Forty-seven had Typical KD, three Atypical KD and twenty Incomplete KD. Age at the disease onset ranged from 0.1 to 8.9 years. IVIG were administered 5 ± 2 days after the fever started. Defervescence occurred 39 ± 26 hours after the first IVIG infusion. Fifty-six patients (80 %) received 1 dose of IVIG (responders); 14 patients (20 %) had a resistant KD, with persistent fever after the first IVIG dose (non responders). Ten (14 %) non responders responded to the second dose, 4 (5 %) responded to three doses; one needed treatment with high doses of steroids and Infliximab. Cardiac involvement was documented in twenty-two cases (eighteen with transient dilatation/ectasia, fifteen with aneurysms). Pericardial effusion, documented in eleven, was associated with coronaritis and aneurysms, and was present earlier than coronary involvement in seven. Hypoalbuminemia, D-dimer pre-IVIG, gamma-GT pre-IVIG showed a statistically significant direct correlation with IVIG doses, highlighting the role of these parameters as predictor markers of refractory disease. The persistence of elevated CRP, AST, ALT levels, a persistent hyponatremia and hypoalbuminemia after IVIG therapy, also had a statistical significant correlation with IVIG doses. Non responders

  2. Detection Rate and Clinical Impact of Respiratory Viruses in Children with Kawasaki Disease

    Directory of Open Access Journals (Sweden)

    Ja Hye Kim

    2012-12-01

    Full Text Available &lt;B&gt;Purpose:&lt;/B&gt; The purpose of this prospective case-control study was to survey the detection rate of respiratory viruses in children with Kawasaki disease (KD by using multiplex reverse transcriptasepolymerase chain reaction (RT-PCR, and to investigate the clinical implications of the prevalence of respiratory viruses during the acute phase of KD. &lt;B&gt;Methods:&lt;/B&gt; RT-PCR assays were carried out to screen for the presence of respiratory syncytial virus A and B, adenovirus, rhinovirus, parainfluenza viruses 1 to 4, influenza virus A and B, metapneumovirus, bocavirus, coronavirus OC43/229E and NL63, and enterovirus in nasopharyngeal secretions of 55 KD patients and 78 control subjects. &lt;B&gt;Results:&lt;/B&gt; Virus detection rates in KD patients and control subjects were 32.7% and 30.8%, respectively (P=0.811. However, there was no significant association between the presence of any of the 15 viruses and the incidence of KD. Comparisons between the 18 patients with positive RT-PCR results and the other 37 KD patients revealed no significant differences in terms of clinical findings (including the prevalence of incomplete presentation of the disease and coronary artery diameter. &lt;B&gt;Conclusion:&lt;/B&gt; A positive RT-PCR for currently epidemic respiratory viruses should not be used as an evidence against the diagnosis of KD. These viruses were not associated with the incomplete presentation of KD and coronary artery dilatation.

  3. FCGR2A Promoter Methylation and Risks for Intravenous Immunoglobulin Treatment Responses in Kawasaki Disease

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    Ho-Chang Kuo

    2015-01-01

    Full Text Available Kawasaki disease (KD is characterized by pediatric systemic vasculitis of an unknown cause. The low affinity immunoglobulin gamma Fc region receptor II-a (FCGR2A gene was reported to be involved in the susceptibility of KD. DNA methylation is one of the epigenetic mechanisms that control gene expression; thus, we hypothesized that methylation status of CpG islands in FCGR2A promoter associates with the susceptibility and therapeutic outcomes of Kawasaki disease. In this study, 36 KD patients and 24 healthy subjects from out-patient clinic were recruited. Eleven potential methylation sites within the targeted promoter region of FCGR2A were selected for investigation. We marked the eleven methylation sites from A to K. Our results indicated that methylation at the CpG sites G, H, and J associated with the risk of KD. CpG sites B, C, E, F, H, J, and K were found to associate with the outcomes of IVIG treatment. In addition, CpG sites G, J, and K were predicted as transcription factors binding sites for NF-kB, Myc-Max, and SP2, respectively. Our study reported a significant association among the promoter methylation of FCGR2A, susceptibility of KD, and the therapeutic outcomes of IVIG treatment. The methylation levels of CpG sites of FCGR2A gene promoter should be an important marker for optimizing IVIG therapy.

  4. Atypical desquamation in a 2.5-year-old boy with Kawasaki disease: A case report.

    Science.gov (United States)

    Adib, Ali; Fazel, Ali; Nabavizadeh, Seyed Hesamedin; Alyasin, Sohaila; Kashef, Sara

    2017-02-01

    Kawasaki disease (KD) is a vasculitis that mostly affects children under 5 years of age. This article presents a 2.5-year-old boy who presented with 6 days of fever, generalized maculopapular rash, bilateral non-exudative conjunctivitis, cracked lips, right cervical lymphadenopathy, erythematous extremities, and perianal desquamation. Laboratory studies showed leukocytosis and sterile pyuria. Because diagnosis of KD was proved, oral acetylsalicylic acid with the anti-inflammatory dose and intravenous immunoglobulin were started for him. On the seventh day of admission time, he developed desquamation and erythema on the site of his right cervical lymphadenopathy as well as periungual scaling. About three weeks after starting the treatment, scaling of the cervical lymphadenopathy and periungual area stopped. Echocardiography was performed for him three times: at the time of diagnosis, four weeks, and 6 months later and revealed normal coronary arteries. We report this sign, desquamation on the site of cervical lymphadenopathy, as a new finding.

  5. Biphasic thallium 201 SPECT-imaging for the noninvasive diagnosis of myocardial perfusion abnormalities in a child with Kawasaki disease--a case report

    International Nuclear Information System (INIS)

    Hausdorf, G.; Nienaber, C.A.; Spielman, R.P.

    1988-01-01

    The mucocutaneous lymph node syndrome (Kawasaki disease) is of increasing importance for the pediatric cardiologist, for coronary aneurysms with the potential of thrombosis and subsequent stenosis can develop in the course of the disease. The authors report a 2 1/2-year-old female child in whom, fourteen months after the acute phase of Kawasaki disease, myocardial infarction occurred. Biphasic thallium 201 SPECT-imaging using dipyridamole depicted anterior wall ischemia and inferolateral infarction. This case demonstrates that noninvasive vasodilation-redistribution thallium 201 SPECT-imaging has the potential to predict reversible myocardial perfusion defects and myocardial necrosis, even in small infants with Kawasaki disease

  6. A Novel Truncated Form of Serum Amyloid A in Kawasaki Disease.

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    John C Whitin

    Full Text Available Kawasaki disease (KD is an acute vasculitis in children that can cause coronary artery abnormalities. Its diagnosis is challenging, and many cytokines, chemokines, acute phase reactants, and growth factors have failed evaluation as specific biomarkers to distinguish KD from other febrile illnesses. We performed protein profiling, comparing plasma from children with KD with febrile control (FC subjects to determine if there were specific proteins or peptides that could distinguish the two clinical states.Plasma from three independent cohorts from the blood of 68 KD and 61 FC subjects was fractionated by anion exchange chromatography, followed by surface-enhanced laser desorption ionization (SELDI mass spectrometry of the fractions. The mass spectra of KD and FC plasma samples were analyzed for peaks that were statistically significantly different.A mass spectrometry peak with a mass of 7,860 Da had high intensity in acute KD subjects compared to subacute KD (p = 0.0003 and FC (p = 7.9 x 10-10 subjects. We identified this peak as a novel truncated form of serum amyloid A with N-terminal at Lys-34 of the circulating form and validated its identity using a hybrid mass spectrum immunoassay technique. The truncated form of serum amyloid A was present in plasma of KD subjects when blood was collected in tubes containing protease inhibitors. This peak disappeared when the patients were examined after their symptoms resolved. Intensities of this peptide did not correlate with KD-associated laboratory values or with other mass spectrum peaks from the plasma of these KD subjects.Using SELDI mass spectrometry, we have discovered a novel truncated form of serum amyloid A that is elevated in the plasma of KD when compared with FC subjects. Future studies will evaluate its relevance as a diagnostic biomarker and its potential role in the pathophysiology of KD.

  7. Value of amino-terminal pro B-natriuretic peptide in diagnosing Kawasaki disease.

    Science.gov (United States)

    McNeal-Davidson, Ariane; Fournier, Anne; Spigelblatt, Linda; Saint-Cyr, Claire; Mir, Thomas S; Nir, Amiram; Dallaire, Frédéric; Cousineau, Jocelyne; Delvin, Edgard; Dahdah, Nagib

    2012-10-01

    The aim of the present study was to investigate the diagnostic value of the N-terminal B-type natriuretic peptide (NT-proBNP) in acute Kawasaki disease (KD) given that the clinical criteria and the current basic laboratory tests lack the necessary specificity for accurate diagnosis. Basic biological tests and serum NT-proBNP levels obtained from acute KD patients were compared to that of febrile controls. NT-proBNP was considered abnormal based on the following definitions: above a cut-off determined on receiver operator characteristic (ROC) analysis, above the upper limit for age, or above 2 SD calculated from healthy children. Analyses were also performed for KD cases with complete or incomplete criteria combined and separately. There were 81 patients and 49 controls aged 3.60 ± 2.77 versus 4.25 ± 3.88 years (P= 0.69). ROC analysis yielded significant area under the curve for NT-proBNP. The sensitivity, specificity, positive and negative predictive values were 70.4-88.9%, 69.4-91.8%, 82.8-93.4%, and 65.2-79.1%. The odds ratios based on NT-proBNP definitions varied between 18.13 (95% confidence interval [CI]: 7.21-45.57), 20.82 (95%CI: 8.18-53.0), and 26.71 (95%CI: 8.64-82.57; P < 0.001). Results were reproducible for cases with complete or incomplete criteria separately. NT-proBNP is a reliable marker for the diagnosis of KD. Prospective clinical studies with emphasis on NT-proBNP in a diagnostic algorithm are needed. © 2012 The Authors. Pediatrics International © 2012 Japan Pediatric Society.

  8. Health related quality of life and perceptions of child vulnerability among parents of children with a history of Kawasaki disease

    NARCIS (Netherlands)

    van Oers, Hedy A.; Tacke, Carline E.; Haverman, Lotte; Kuipers, Irene M.; Maurice-Stam, Heleen; Kuijpers, Taco W.; Grootenhuis, Martha A.

    2014-01-01

    Kawasaki disease (KD) is an acute paediatric vasculitis. The psychosocial consequences of this sudden illness for parents are unknown. This study aimed to evaluate health related quality of life (HRQOL) and parental perceptions of child vulnerability (PPCV) in parents of children with KD, and to

  9. Cardiac Complications, Earlier Treatment, and Initial Disease Severity in Kawasaki Disease.

    Science.gov (United States)

    Abrams, Joseph Y; Belay, Ermias D; Uehara, Ritei; Maddox, Ryan A; Schonberger, Lawrence B; Nakamura, Yosikazu

    2017-09-01

    To assess if observed higher observed risks of cardiac complications for patients with Kawasaki disease (KD) treated earlier may reflect bias due to confounding from initial disease severity, as opposed to any negative effect of earlier treatment. We used data from Japanese nationwide KD surveys from 1997 to 2004. Receipt of additional intravenous immunoglobulin (IVIG) (data available all years) or any additional treatment (available for 2003-2004) were assessed as proxies for initial disease severity. We determined associations between earlier or later IVIG treatment (defined as receipt of IVIG on days 1-4 vs days 5-10 of illness) and cardiac complications by stratifying by receipt of additional treatment or by using logistic modeling to control for the effect of receiving additional treatment. A total of 48 310 patients with KD were included in the analysis. In unadjusted analysis, earlier IVIG treatment was associated with a higher risk for 4 categories of cardiac complications, including all major cardiac complications (risk ratio, 1.10; 95% CI, 1.06-1.15). Stratifying by receipt of additional treatment removed this association, and earlier IVIG treatment became protective against all major cardiac complications when controlling for any additional treatment in logistic regressions (OR, 0.90; 95% CI, 0.80-1.00). Observed higher risks of cardiac complications among patients with KD receiving IVIG treatment on days 1-4 of the illness are most likely due to underlying higher initial disease severity, and patients with KD should continue to be treated with IVIG as early as possible. Published by Elsevier Inc.

  10. Kawasaki syndrome: a case report.

    Science.gov (United States)

    Blakeley, S L; Cohen, P R

    1993-08-01

    A four-year-old black boy with Kawasaki syndrome is reported. The child was treated with intravenous gamma globulin and aspirin. He had no disease-associated adverse sequelae. The clinical findings, diagnostic criteria, and treatment of Kawasaki syndrome are reviewed.

  11. Heart and coronary artery damage related to Kawasaki syndrome

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    A. A. Leontyeva

    2014-01-01

    Full Text Available Kawasaki syndrome is an acute systemic vasculitis of unknown etiology, which mainly affects children within the first 5 years of fife. At the present time, Kawasaki syndrome is recognized to be a leading cause of acquired organic heart diseases in children, which may result in coronary heart disease, myocardial infarction, and sudden death in children and young people. Most complications are associated with the cardiovascular system, with coronary artery changes in particular. Transthoracic echocardiography, which, besides coronary artery assessment, makes it possible to evaluate right and left ventricular systolic and diastolic functions and to study the cardiac valves and changes in pericardial effusion, is a major technique in Kawasaki syndrome. The paper outlines an update on the epidemiology, etiology, pathogenetic mechanisms, and pathomorphology of Kawasaki syndrome and considers possible coronary and noncoronary changes, outcomes, and clinical manifestations.

  12. Reduced myocardial perfusion reserve in myocardium having coronary artery aneurysm of Kawasaki disease

    International Nuclear Information System (INIS)

    Yoon, S. N.; Lee, D. S.; Choi, J. Y.; Kil, H. R.; Jeong, Z. K.; Lee, M. C.; Ko, C. S.

    1997-01-01

    Kawasaki disease is a systemic vasculitis involving the coronary arteries at early childhood and cause coronary artery aneurysms and thrombotic occlusions. These coronary artery aneurysms were usually transformed later into stenotic or obstructive lesions, however, the majority of these aneurysms, even the giant ones, are known to be associated with normal epicardial coronary flow. Flow reserve is difficult to assess in aneurysmal arteries with echo or angiography. We performed this study to question if there are abnormalities in flow reserve in myocardial tissue with normal epicardial arterial flow on angiography in patients with Kawasaki disease, dipyridamole stress and rest Tc-99m-sestamibi SPECT were performed in 37 patients (28 boys, 9 girls, mean age 6.6 years). We compared SPECT findings with coronary angiography (CAG) findings in 21 patients who did both studies after finding abnormality on echocardiaography. On CAG, aneurysms were found in 26 arteries of 16 patients, i.e., 10 left main arteries, 6 left anterior descending arteries (LAD), 2 left circumflex arteries (LCX), and 8 right coronary arteries (RCA). Localized and segmental stenotic lesions were found in 11 arteries in 9 patients (LAD: 4, LCX: 1, RCA: 6). Eight of the 10 patients with aneurysms had no obvious stenosis. On stress-rest SPECT, 16(43%) out of 37 patients showed normal perfusion and the other 21(57%) showed reversible or persistent decrease. Among 11 stenotic artery territories, 3(27%) showed persistent and/or reversible perfusion defects. The other 8 were normal. Among 26 aneurysmal artery territories, 12 artery territories showe perfusion decrease. Three of the 5 patients with normal CAG showed persistent and/or transient perfusion defects. Among 14 artery territories with perfusion decrease in the 16 patients, 3(21%) could be localized to vascular territory having stenosis of supplying coronary arteries, 12(86%) were related to the coronary artery aneurysms. Two were not related to

  13. Enfermedad de Kawasaki

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    Carlos Coronel Carvajal

    2003-09-01

    Full Text Available Se realizó una revisión actualizada de la enfermedad de Kawasaki, con el objetivo de familiarizar a pediatras y médicos de la familia con los elementos clínicos de la enfermedad, para que de esta manera pueda ser diagnosticada y manejada oportunamente. La enfermedad de Kawasaki fue descrita por Tomisaki Kawasaki en 1967, y se manifiesta como un síndrome febril en la niñez temprana. La enfermedad se diagnostica con mayor frecuencia en los menores de 5 años, a través de una serie de criterios clínicos establecidos. La forma típica de la enfermedad tiene 3 fases de duración variable. La afectación cardíaca es la manifestación más importante de la enfermedad, del 10 al 40 % de los niños muestran signos de vasculitis coronaria, manifestada por aneurismas de las arterias coronarias.An updated review of Kawasaki disease was carried out to make pediatricians and family physicians familiar with the clinical elements of the disease so that it can be properly diagnosed and managed. Kawasaki disease was described by Tomisaki Kawasaki in 1967 and manifests as a febrile syndrome at early childhood. The disease is very often diagnosed in under five years-old children on the basis of a series of set clinical criteria. The typical form of the disease had 3 phases of variable duration. The cardiac effect is the most important manifestation of the disease since 10 to 40 % of children show signs of coronary vasculitis in the form of coronary arterial aneurysms.

  14. Kawasaki disease with G6PD deficiency--report of one case and literature review.

    Science.gov (United States)

    Chen, Chia-Hao; Lin, Li-Yan; Yang, Kuender D; Hsieh, Kai-Sheng; Kuo, Ho-Chang

    2014-06-01

    Kawasaki disease (KD) is a systemic vasculitis primarily affecting children who are younger than 5 years. The most serious complications are coronary artery aneurysms and sequelae of vasculitis with the subsequent development of coronary artery aneurysm. According to the literature, intravenous immunoglobulin (IVIG) plus high-dose aspirin (acetylsalicylic acid) were standard treatment for KD, whereas low-dose aspirin (3-5 mg/kg/day) was used for thrombocytosis in KD via antiplatelet effect. However, aspirin has been reported to have hemolytic potential in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. We report a child with G6PD-deficiency who has KD, and review the literature. Copyright © 2012. Published by Elsevier B.V.

  15. Augmented TLR2 Expression on Monocytes in both Human Kawasaki Disease and a Mouse Model of Coronary Arteritis

    OpenAIRE

    Lin, I-Chun; Kuo, Ho-Chang; Lin, Ying-Jui; Wang, Feng-Shen; Wang, Lin; Huang, Shun-Chen; Chien, Shao-Ju; Huang, Chien-Fu; Wang, Chih-Lu; Yu, Hong-Ren; Chen, Rong-Fu; Yang, Kuender D.

    2012-01-01

    BACKGROUND: Kawasaki disease (KD) of unknown immunopathogenesis is an acute febrile systemic vasculitis and the leading cause of acquired heart diseases in childhood. To search for a better strategy for the prevention and treatment of KD, this study compared and validated human KD immunopathogenesis in a mouse model of Lactobacillus casei cell wall extract (LCWE)-induced coronary arteritis. METHODS: Recruited subjects fulfilled the criteria of KD and were admitted for intravenous gamma globul...

  16. Cardiac Complications in 38 Cases of Kawasaki Disease with Coronary Artery Aneurysm Diagnosed by Echocardiography.

    Science.gov (United States)

    Wei, Ya Juan; Zhao, Xiao Lan; Liu, Bao Min; Niu, Hua; Li, Qian

    2016-05-01

    The long-term prognosis of patients with Kawasaki disease (KD) complicated by coronary artery aneurysm (CAA) is unclear. The aim of this study was to evaluate the complications of KD with CAAs. We retrospectively analyzed the clinical data and complications of 38 KD patients with CAAs who were treated and underwent regular follow-up with echocardiography between January 1989 and May 2013. During a period of 29 days to 19 years after disease onset, complications seen included coronary stenosis and occlusion (six patients), thrombosis (17 patients), myocardial infarction (six patients), and calcification of CAAs (seven patients). Rupture of giant CAAs occurred in two patients and caused sudden death in one of these patients at 29 days and in the other patient at 5 months after disease onset. A total of seven deaths occurred, with five deaths caused by myocardial infarction. Three of these had undiagnosed incomplete KD or had not received regular treatment, while two experienced sudden death after several asymptomatic myocardial infarctions. Cardiac complications of KD with CAAs include thrombosis, coronary stenosis, myocardial infarction, sudden death, and calcification. Although rare, rupture of giant CAAs is fatal and might occur earlier after the onset of disease. Mortality occurred primarily in the earlier cases when anticoagulant therapy was insufficient and in patients who did not receive regular treatment. Echocardiography can provide reliable information for assessing the progression and prognosis of this condition. © 2015, Wiley Periodicals, Inc.

  17. Japanese scoring systems to predict resistance to intravenous immunoglobulin in Kawasaki disease were unreliable for Caucasian Israeli children.

    Science.gov (United States)

    Arane, Karen; Mendelsohn, Kerry; Mimouni, Michael; Mimouni, Francis; Koren, Yael; Simon, Dafna Brik; Bahat, Hilla; Helou, Mona Hanna; Mendelson, Amir; Hezkelo, Nofar; Glatstein, Miguel; Berkun, Yackov; Eisenstein, Eli; Aviel, Yonatan Butbul; Brik, Riva; Hashkes, Philip J; Uziel, Yosef; Harel, Liora; Amarilyo, Gil

    2018-05-24

    This study assessed the validity of using established Japanese risk scoring methods to predict intravenous immunoglobulin (IVIG) resistance to Kawasaki disease in Israeli children. We reviewed the medical records of 282 patients (70% male) with Kawasaki disease from six Israeli medical centres between 2004-2013. Their mean age was 2.5 years. The risk scores were calculated using the Kobayashi, Sano and Egami scoring methods and analysed to determine if a higher risk score predicted IVIG resistance in this population. Factors that predicted a lack of response to the initial IVIG dose were identified. We found that 18% did not respond to the first IVIG dose. The three scoring methods were unable to reliably predict IVIG resistance, with sensitivities of 23-32% and specificities of 67-87%. Calculating a predictive score that was specific for this population was also unsuccessful. The factors that predicted a lacked of response to the first IVIG dose included low albumin, elevated total bilirubin and ethnicity. The established risk scoring methods created for Japanese populations with Kawasaki disease were not suitable for predicting IVIG resistance in Caucasian Israeli children and we were unable to create a specific scoring method that was able to do this. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  18. Kawasaki disease-associated coronary artery lesions with navigator echo-based. Respiratory-gated three dimensional coronary magnetic resonance angiography compared with echocardiography in young children

    International Nuclear Information System (INIS)

    Amino, Masayuki; Teraoka, Kunihiko; Hirano, Masaharu; Kawashima, Naoshi; Kakizaki, Dai; Ookubo, Yasuo; Sasaki, Kazuyoshi; Katuyama, Hiroaki

    2004-01-01

    Navigator echo-based respiratory-gated three dimensional coronary magnetic resonance angiography (3D-CMRA) was compared with echocardiography, to determine whether 3D-CMRA was useful for the evaluation of Kawasaki disease-associated coronary artery lesions. Sixteen consecutive patients (imaging was performed 17 times in total) who were given a diagnosis of Kawasaki's disease at the pediatric department of our hospital and examined for the precise examination of complicating coronary artery lesions on MRI using a navigator-echo technique because of their incapability of holding their breath during imaging were entered into the present study. A 1.5T MRI system was used. Gd-DOTA was given at a total volume of 0.1 mmol/kg. During imaging, CMRA visualized the left coronary arteries in all 17 cases and the right coronary arteries in 16 cases, but not in one case. The left main coronary trunk segment no.5 was demonstrated in all cases with CMRA, but not in 4 cases with echocardiography. The left anterior descending branch no.6 was visualized in 11 of the 17 cases with CMRA, but only in 5 cases with echocardiography. The left circumflex branch no.11 was observed in 6 cases with CMRA, but only in 2 cases with echocardiography. As for the right coronary arteries, branches no.1 and no.2 were observed in 16 and 9 cases with CMRA, respectively, and in 13 and 3 cases with echocardiography, respectively. Vascular diameters measured on CMRA were almost identical to those on echocardiography, within the range of arteries visualized. 3D-CMRA combined with a navigator echo technique appears to be a useful tool for the observation of coronary artery lesions associated with Kawasaki's disease because it is superior in lesion visualization to echocardiography. (author)

  19. Classification of coronary artery tissues using optical coherence tomography imaging in Kawasaki disease

    Science.gov (United States)

    Abdolmanafi, Atefeh; Prasad, Arpan Suravi; Duong, Luc; Dahdah, Nagib

    2016-03-01

    Intravascular imaging modalities, such as Optical Coherence Tomography (OCT) allow nowadays improving diagnosis, treatment, follow-up, and even prevention of coronary artery disease in the adult. OCT has been recently used in children following Kawasaki disease (KD), the most prevalent acquired coronary artery disease during childhood with devastating complications. The assessment of coronary artery layers with OCT and early detection of coronary sequelae secondary to KD is a promising tool for preventing myocardial infarction in this population. More importantly, OCT is promising for tissue quantification of the inner vessel wall, including neo intima luminal myofibroblast proliferation, calcification, and fibrous scar deposits. The goal of this study is to classify the coronary artery layers of OCT imaging obtained from a series of KD patients. Our approach is focused on developing a robust Random Forest classifier built on the idea of randomly selecting a subset of features at each node and based on second- and higher-order statistical texture analysis which estimates the gray-level spatial distribution of images by specifying the local features of each pixel and extracting the statistics from their distribution. The average classification accuracy for intima and media are 76.36% and 73.72% respectively. Random forest classifier with texture analysis promises for classification of coronary artery tissue.

  20. Adolescent Kawasaki disease: usefulness of 64-slice CT coronary angiography for follow-up investigation

    Energy Technology Data Exchange (ETDEWEB)

    Carbone, Iacopo; Cannata, David; Algeri, Emanuela; Galea, Nicola; Napoli, Alessandro; Catalano, Carlo; Passariello, Roberto; Francone, Marco [Sapienza University of Rome, Department of Radiological, Onchological and Anatomopathological Sciences, Policlinico Umberto I, Rome (Italy); De Zorzi, Andrea [Bambino Gesu Hospital, Cardiology Division, Rome (Italy); Bosco, Giovanna; D' Agostino, Rita [Sapienza University of Rome, Unit of Paediatric Cardiology, Policlinico Umberto I, Rome (Italy); Menezes, Leon [University College of London, Institute of Nuclear Medicine, London (United Kingdom)

    2011-09-15

    Kawasaki disease (KD) is a systemic vasculitis that mainly affects coronary arteries in children, and requires regular follow-up from the time of diagnosis. To evaluate the feasibility of 64-slice CT angiography (CTA) for follow-up of patients with KD using previously performed invasive catheter coronary angiography (CCA) as reference standard. The study group comprised 12 patients (age 17.6 {+-} 2.9 years, mean{+-}SD) with a diagnosis of KD and a previously performed CCA (interval, 32.6 {+-} 13.5 months) who underwent 64-slice cardiac CTA. The quality of the images for establishing the presence of coronary abnormalities was determined by two observers. The CTA findings were compared with those from the prior CCA. Adequate image quality was obtained in all patients. Mean effective dose for CTA was 6.56 {+-} 0.95 mSv. CTA allowed accurate identification, characterization and measurement of all coronary aneurysms (n = 32), stenoses (n = 3) and occlusions (n = 9) previously demonstrated by CCA. One patient with disease progression went on to have percutaneous coronary intervention. Coronary lesions were reliably evaluated by 64-slice CTA in the follow-up of compliant patients with KD, reducing the need for repeated diagnostic invasive CCA. Hence, in an adequately selected patient population, the role of CCA could be limited almost only to therapeutic procedures. (orig.)

  1. Identification of candidate diagnostic serum biomarkers for Kawasaki disease using proteomic analysis

    Science.gov (United States)

    Kimura, Yayoi; Yanagimachi, Masakatsu; Ino, Yoko; Aketagawa, Mao; Matsuo, Michie; Okayama, Akiko; Shimizu, Hiroyuki; Oba, Kunihiro; Morioka, Ichiro; Imagawa, Tomoyuki; Kaneko, Tetsuji; Yokota, Shumpei; Hirano, Hisashi; Mori, Masaaki

    2017-01-01

    Kawasaki disease (KD) is a systemic vasculitis and childhood febrile disease that can lead to cardiovascular complications. The diagnosis of KD depends on its clinical features, and thus it is sometimes difficult to make a definitive diagnosis. In order to identify diagnostic serum biomarkers for KD, we explored serum KD-related proteins, which differentially expressed during the acute and recovery phases of two patients by mass spectrometry (MS). We identified a total of 1,879 proteins by MS-based proteomic analysis. The levels of three of these proteins, namely lipopolysaccharide-binding protein (LBP), leucine-rich alpha-2-glycoprotein (LRG1), and angiotensinogen (AGT), were higher in acute phase patients. In contrast, the level of retinol-binding protein 4 (RBP4) was decreased. To confirm the usefulness of these proteins as biomarkers, we analyzed a total of 270 samples, including those collected from 55 patients with acute phase KD, by using western blot analysis and microarray enzyme-linked immunosorbent assays (ELISAs). Over the course of this experiment, we determined that the expression level of these proteins changes specifically in the acute phase of KD, rather than the recovery phase of KD or other febrile illness. Thus, LRG1 could be used as biomarkers to facilitate KD diagnosis based on clinical features. PMID:28262744

  2. Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK) in disease susceptibility

    NARCIS (Netherlands)

    Chang, Chia-Jung; Kuo, Ho-Chang; Chang, Jeng-Sheng; Lee, Jong-Keuk; Tsai, Fuu-Jen; Khor, Chiea Chuen; Chang, Li-Ching; Chen, Shih-Ping; Ko, Tai-Ming; Liu, Yi-Min; Chen, Ying-Ju; Hong, Young Mi; Jang, Gi Young; Hibberd, Martin L.; Kuijpers, Taco; Burgner, David; Levin, Michael; Burns, Jane C.; Davila, Sonia; Chen, Yuan-Tsong; Chen, Chien-Hsiun; Wu, Jer-Yuarn; Lee, Yi-Ching; Liang, Chi-Di; Hwang, Kao-Pin; Chang, Luan-Yin; Huang, Li-Min; Chen, Ming-Ren; Chi, Hsin; Huang, Fu-Yuan; Chiu, Nan-Chang; Lee, Meng-Luen; Huang, Yhu-Chering; Hwang, Betau; Lee, Pi-Chang; Yoo, Jeong-Jin; Park, In-Sook; Hong, Soo-Jong; Kim, Kwi-Joo; Kim, Jae-Jung; Sohn, Saejung; Young Jang, Gi; Ha, Kee-Soo; Nam, Hyo-Kyoung; Byeon, Jung-Hye; Yun, Sin Weon; Han, Myung Ki; Kuipers, Irene M.; Ottenkamp, Jaap J.; Biezeveld, Maarten

    2013-01-01

    The BLK and CD40 loci have been associated with Kawasaki disease (KD) in two genome-wide association studies (GWAS) conducted in a Taiwanese population of Han Chinese ancestry (Taiwanese) and in Japanese cohorts. Here we build on these findings with replication studies of the BLK and CD40 loci in

  3. Kawasaki Disease With Coronary Artery Aneurysms: Psychosocial Impact on Parents and Children.

    Science.gov (United States)

    Chahal, Nita; Jelen, Ahlexxi; Rush, Janet; Manlhiot, Cedric; Boydell, Katherine M; Sananes, Renee; McCrindle, Brian W

    For those living with Kawasaki disease and coronary artery aneurysms, little is known about the psychosocial burden faced by parents and their children. Exploratory, descriptive, mixed-methods design examining survey and interview data about health-related uncertainty, intrusiveness, and self-efficacy. Parents' uncertainty was associated with missed diagnosis, higher income, and maternal education. Higher uncertainty scores among children were associated with absence of chest pain and lower number of echocardiograms. High intrusiveness scores among parents were associated with previous cardiac catheterization, use of anticoagulants, lower parent education and income, and missed diagnosis. High intrusiveness scores among children were associated with high paternal education. Children's total self-efficacy scores increased with chest pain and larger aneurysm size. Qualitative analysis showed two central themes: Psychosocial Struggle and Cautious Optimism. Negative illness impact is associated with a more intense medical experience and psychosocial limitations. Timely assessment and support are warranted to meet parents' and children's needs. Copyright © 2016 National Association of Pediatric Nurse Practitioners. Published by Elsevier Inc. All rights reserved.

  4. Hemodynamic Based Coronary Artery Aneurysm Thrombosis Risk Stratification in Kawasaki Disease Patients

    Science.gov (United States)

    Grande Gutierrez, Noelia; Mathew, M.; McCrindle, B.; Kahn, A.; Burns, J.; Marsden, A.

    2017-11-01

    Coronary artery aneurysms (CAA) as a result of Kawasaki Disease (KD) put patients at risk for thrombosis and myocardial infarction. Current AHA guidelines recommend CAA diameter >8 mm or Z-score >10 as the criterion for initiating systemic anticoagulation. Our hypothesis is that hemodynamic data derived from computational blood flow simulations is a better predictor of thrombosis than aneurysm diameter alone. Patient-specific coronary models were constructed from CMRI for a cohort of 10 KD patients (5 confirmed thrombosis cases) and simulations with fluid structure interaction were performed using the stabilized finite element Navier-Stokes solver available in SimVascular. We used a closed-loop lumped parameter network (LPN) to model the heart and vascular boundary conditions coupled numerically to the flow solver. An automated parameter estimation method was used to match LPN values to clinical data for each patient. Hemodynamic data analysis resulted in low correlation between Wall Shear Stress (WSS)/ Particle Residence Time (PRT) and CAA diameter but demonstrates the positive correlation between hemodynamics and adverse patient outcomes. Our results suggest that quantifying WSS and PRT should enable identification of regions at higher risk of thrombosis. We propose a quantitative method to non-invasively assess the abnormal flow in CAA following KD that could potentially improve clinical decision-making regarding anticoagulation therapy.

  5. Pregnancy in women with a history of Kawasaki disease: management and outcomes.

    Science.gov (United States)

    Gordon, C T; Jimenez-Fernandez, S; Daniels, L B; Kahn, A M; Tarsa, M; Matsubara, T; Shimizu, C; Burns, J C; Gordon, J B

    2014-10-01

    To characterise the obstetrical management and outcomes in a series of women with a history of Kawasaki disease (KD) in childhood. Retrospective case series. Tertiary healthcare setting in the USA. Women with a history of KD in childhood. Women completed a detailed health questionnaire and participated in research imaging studies as part of the San Diego Adult KD Collaborative Study. Obstetrical management, complications during pregnancy and delivery, and infant outcomes. Ten women with a history of KD in childhood carried a total of 21 pregnancies to term. There were no cardiovascular complications during labour and delivery despite important cardiovascular abnormalities in four of the ten subjects. Pregnancy was complicated by pre-eclampsia and the post-partum course was complicated by haemorrhage in one subject each. Two of the 21 progeny subsequently developed KD. Women with important cardiovascular sequelae from KD in childhood should be managed by a team that includes both a maternal-fetal medicine specialist and a cardiologist. Pre-pregnancy counselling should include delineation of the woman's current functional and structural cardiovascular status and appropriate adjustment of medications, but excellent outcomes are possible with appropriate care. Review of the English and Japanese literature on KD and pregnancy revealed the occurrence of myocardial infarction during pregnancy in women with missed KD and aneurysms that were not diagnosed until their acute event. Our study highlights the need for counselling with regard to the increased genetic risk of KD in offspring born to these mothers. © 2014 Royal College of Obstetricians and Gynaecologists.

  6. Epidemiologic study of Kawasaki disease at a single hospital in Daejeon, Korea (1987 through 2000).

    Science.gov (United States)

    Lee, Kyung-Yil; Han, Ji-Whan; Lee, Hyung-Shin; Hong, Ja-Hyun; Hahn, Seung-Hoon; Lee, Joon-Sung; Whang, Kyung-Tai

    2004-01-01

    We evaluated the epidemiology and a range of clinical characteristics in children with Kawasaki disease (KD) in one area of South Korea. We retrospectively analyzed 506 medical records of children with KD, who were admitted at Daejeon St. Mary's Hospital from January 1987 through December 2000. The mean annual frequency was 36.1 +/- 11.1 cases per year. There were 55 cases (10.9%) in 1993, 50 cases (9.9%) in 1994 and 47 cases (9.3%) in 2000. There was a slightly higher occurrence in summer with no significant difference in seasonal frequency. Age distribution ranged from 2 months to 13 years of age (mean, 2.4 +/- 1.7 years) and 485 children (95.8%) were 500 mg/day for 4 to 5 days, 231 cases, 45.7%) and one dose IVIG (2.0 g/kg, 210 cases, 41.5%) were used. Between 1996 and 2000, 143 cases were treated with only one dose IVIG, and 21 cases (14.7%) showed coronary artery lesions (CAL). Among the 143 cases 22 cases (15.4%) were retreated with IVIG and/or steroid pulse therapy. The incidence of CAL in this group was 50.0%. In Daejeon, Korea, KD showed slight annual variations without seasonal differences. The rate of CAL in acute stage with one dose IVIG therapy (2 g/kg) was 8.3% in the IVIG responders.

  7. Incidence, epidemiology and clinical features of Kawasaki disease in Catalonia, Spain.

    Science.gov (United States)

    Sánchez-Manubens, Judith; Antón, Jordi; Bou, Rosa; Iglesias, Estíbaliz; Calzada-Hernandez, Joan

    2016-01-01

    To assess the incidence, epidemiology and clinical features of Kawasaki disease (KD) in Catalonia (northeast region of Spain). This was an observational population-based study including all Paediatric Units in Catalonia, under both public and private management. Retrospective data retrieval was performed for 10 years (2004-2013). A 12-month (March 2013 to March 2014) prospective collection of new cases of KD was carried out to determine the incidence of KD. Data from 399 patients over the 10-year study period was analysed, revealing that 233 (58.4%) had complete KD, 159 (39.8) incomplete KD and 7 (1.7%) were considered atypical KD. Mean annual incidence was 3.5/105 children 10(th) day of illness, ages 8 yo and the presence of sterile piuria, aseptic meningitis, abdominal pain and uveitis at diagnosis were found to have higher risk of coronary aneurisms (CAA) (pIncidence, clinical features and treatment plans in our cohort are similar to those described in other European studies.

  8. Kawasaki Disease – A Review of Treatment and Outcomes in an Irish Paediatric Cohort 2010-14.

    LENUS (Irish Health Repository)

    Flinn, AM

    2018-02-01

    Diagnosis of Kawasaki Disease (KD) can be challenging due to lack of a diagnostic test, and some children present with ‘incomplete’ KD when not all diagnostic criteria are met. Treatment with intravenous immunoglobulin (IVIG) and aspirin reduces the risk of coronary artery complications. There is sub-group of patients who are resistant to IVIG\\/aspirin therapy and are at increased risk of complications. Recent evidence suggests that additional treatment of this high-risk group with corticosteroids is beneficial in reducing this risk. We examine the treatment and coronary artery outcomes, by retrospective review of medical records, of a cohort of 32 paediatric patients with KD admitted to a single Irish tertiary centre from January 2010-December 2014. Twenty-eight percent of patients (9\\/32) had an incomplete diagnosis of KD; these patients received IVIG later compared to those with a complete KD diagnosis. 15\\/32 (47%) had abnormal echocardiogram findings in the acute phase, 8\\/32 (25%) had echocardiogram abnormalities at 6-week follow-up, and 4\\/32 (12.5%) had persisting abnormalities. This study highlights the potential for adverse outcome in KD, the difficulty in diagnosis in ‘incomplete’ cases, and the need to identify children at higher risk for adverse outcome where adjunctive therapies would be most beneficial.

  9. Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease

    Directory of Open Access Journals (Sweden)

    Yu Mi Choi

    2012-01-01

    Full Text Available Purpose : Transforming growth factor beta receptor 2 (TGFBR2 is a tumor suppressor gene that plays a role in the differentiation of striated cells and remodeling of coronary arteries. Single nucleotide polymorphisms (SNPs of this gene are associated with Marfan syndrome and sudden death in patients with coronary artery disease. Cardiovascular remodeling and T cell activation of TGFBR2 gene suggest that the TGFBR2 gene SNPs are related to the pathogenesis of Kawasaki disease (KD and coronary artery lesion (CAL. Methods : The subjects were 105 patients with KD and 500 healthy adults as controls. Mean age of KD group was 32 months age and 26.6% of those had CAL. We selected TGFBR2 gene SNPs from serum and performed direct sequencing. Results : The sequences of the eleven SNPs in the TGFBR2 gene were compared between the KD group and controls. Three SNPs (rs1495592, rs6550004, rs795430 were associated with development of KD (P=0.019, P=0.026, P=0.016, respectively. One SNP (rs1495592 was associated with CAL in KD group (P=0.022. Conclusion : Eleven SNPs in TGFBR2 gene were identified at that time the genome wide association. But, with the change of the data base, only six SNPs remained associated with the TGFBR2 gene. One of the six SNPs (rs6550004 was associated with development of KD. One SNP associated with CAL (rs1495592 was disassociated from the TGFBR2 gene. The other five SNPs were not functionally identified, but these SNPs are notable because the data base is changing. Further studies involving larger group of patients with KD are needed.

  10. The biophysical properties of the aorta are altered following Kawasaki disease.

    Science.gov (United States)

    Vaujois, Laurence; Dallaire, Frédéric; Maurice, Roch L; Fournier, Anne; Houde, Christine; Thérien, Johanne; Cartwright, Daniel; Dahdah, Nagib

    2013-12-01

    The long-term sequelae of Kawasaki disease (KD) are based on the coronary complications. Because KD causes generalized vasculitis, with documented aneurysms in the femoral, iliac, renal, axillary, and brachial arteries, the aim of this study was to assess the biophysical properties of the aorta (BPA) after KD. The BPA are biometric measurements representing vascular structural and dynamic changes in response to cardiac work. Anthropometric and echocardiographic measurements of the aorta in a series of patients with KD were compared with those of healthy subjects. The BPA were calculated noninvasively by extrapolating previously validated equations that were conceived for invasive measurements. Because BPA vary with body habitus, control subjects were used to normalize BPA parameters for height to compute BPA Z-score equations. Between June 2007 and February 2010, BPA were recorded in 57 patients with KD >1 year after the onset of the disease, 45 without and 12 with coronary artery sequelae. The mean intervals between the acute onset of KD and enrollment were 10.0 ± 5.0 and 5.8 ± 4.5 years for patients with and without coronary artery sequelae, respectively (P = .008). Patients with KD with coronary artery sequelae had significantly altered Z scores of aortic diameter modulation, Peterson's elastic modulus, and β stiffness index (P = .001-.016). Patients with KD without coronary artery sequelae also exhibited altered elasticity, stiffness, and pulse-wave velocity (P = .001-.026). Altered BPA after KD are detectible despite apparent resolution of acute vasculitis. Future directions toward determining multilevel and multilayer vascular impact, including vascular autonomous homeostasis, require thorough investigation. Copyright © 2013 American Society of Echocardiography. Published by Mosby, Inc. All rights reserved.

  11. IL-10 Promoter Genetic Polymorphisms and Risk of Kawasaki Disease in Taiwan

    Directory of Open Access Journals (Sweden)

    Kai-Sheng Hsieh

    2011-01-01

    Full Text Available Kawasaki disease (KD is the most common cause of pediatric acquired heart disease. KD patients have spontaneously high plasma/serum levels of IL-10 during the acute phase. Therefore, two independent studies were carried out to investigate the association between genetic variants in IL-10 promoter (−1082, −819, and −592 and risk of KD. A total of 134 trios were included for the family-based association study. A significantly preferential transmission of the C allele at loci −819 T > C and −592 A > C for KD cases was observed (Ppermutation = 0.029 and Ppermutation = 0.034, respectively. There was a significant increase in the transmission of haplotype CC (p = 0.016 at the above two loci (OR, 1.632; 95% CI, 1.090–2.443; Ppermutation = 0.019. We also carried out a follow-up case-control study that included 146 KD cases and 315 unrelated healthy children. {The haplotype CC (−819, −592 showed an increased risk of KD (but statistically non-significant; OR, 1.332; 95% CI, 0.987–1.797; p = 0.061. In diplotype analysis, a trend was found between number of CC haplotype and risk of KD (but non-significant, p = 0.061. In conclusion, CC genotype and CC/CC diplotype at IL-10-819T > C and −592A > C were significantly associated with risk of KD in case-parent trio study, which were replicated partially in our follow-up case-control study.

  12. Increased Kawasaki Disease Incidence Associated With Higher Precipitation and Lower Temperatures, Japan, 1991-2004.

    Science.gov (United States)

    Abrams, Joseph Y; Blase, Jennifer L; Belay, Ermias D; Uehara, Ritei; Maddox, Ryan A; Schonberger, Lawrence B; Nakamura, Yosikazu

    2018-06-01

    Kawasaki disease (KD) is an acute febrile vasculitis, which primarily affects children. The etiology of KD is unknown; while certain characteristics of the disease suggest an infectious origin, genetic or environmental factors may also be important. Seasonal patterns of KD incidence are well documented, but it is unclear whether these patterns are caused by changes in climate or by other unknown seasonal effects. The relationship between KD incidence and deviations from expected temperature and precipitation were analyzed using KD incidence data from Japanese nationwide epidemiologic surveys (1991-2004) and climate data from 136 weather stations of the Japan Meteorological Agency. Seven separate Poisson-distributed generalized linear regression models were run to examine the effects of temperature and precipitation on KD incidence in the same month as KD onset and the previous 1, 2, 3, 4, 5 and 6 months, controlling for geography as well as seasonal and long-term trends in KD incidence. KD incidence was negatively associated with temperature in the previous 2, 3, 4 and 5 months and positively associated with precipitation in the previous 1 and 2 months. The model that best predicted variations in KD incidence used climate data from the previous 2 months. An increase in total monthly precipitation by 100 mm was associated with increased KD incidence (rate ratio [RR] 1.012, 95% confidence interval [CI]: 1.005-1.019), and an increase of monthly mean temperature by 1°C was associated with decreased KD incidence (RR 0.984, 95% CI: 0.978-0.990). KD incidence was significantly affected by temperature and precipitation in previous months independent of other unknown seasonal factors. Climate data from the previous 2 months best predicted the variations in KD incidence. Although fairly minor, the effect of temperature and precipitation independent of season may provide additional clues to the etiology of KD.

  13. The prevention of coronary arterial abnormalities in Kawasaki disease: A meta-analysis of the corticosteroid effectiveness.

    Science.gov (United States)

    Yang, Tsung-Ju; Lin, Ming-Tai; Lu, Chun-Yi; Chen, Jong-Min; Lee, Ping-Ing; Huang, Li-Min; Wu, Mei-Hwan; Chang, Luan-Yin

    2017-09-06

    The use of corticosteroid in Kawasaki disease (KD) remains controversial among current guidelines. The objective of this study is to summarize the effectiveness and safety of corticosteroid to prevent coronary arterial lesions in Kawasaki disease, both as initial and rescue therapy. The Medline, EMBASE, Google scholar, Cochrane Central Register of Controlled Trials databases, ClinicalTrials.gov, and Japanese Institutional Repositories Online were searched for studies up to 31 March 2017. Studies that compared incidence of coronary artery lesions between regimens with corticosteroid and regimen without it in a well-defined controlled group were included. The incidence of coronary artery lesion was analyzed by meta-analysis. Nineteen studies published between 1999 and 2016 fulfilled eligibility criteria. There were 3591 patients included for analysis. There was a significant reduction in incidence of coronary artery lesions with usage of corticosteroid with a pooled odds ratio of 0.72 (95% CI 0.57-0.92; p = 0.01) than that without usage of corticosteroid. In general, a greater effect was seen in the patient received corticosteroid as initial and adjuvant therapy with intravenous immune globulin (pooled odds ratio 0.39, 95% CI 0.21-0.73, p = 0.007) than those who received corticosteroid as rescue therapy. The risk reduction was statistically significant in Japanese groups (OR 0.56, 95% CI 0.42-0.75 in fixed effects model) but not significant in non-Japanese groups (OR 1.45, 95% CI 0.91-2.30 in fixed effects model). We demonstrated an overall reduction in incidence of coronary artery lesions with the use of corticosteroid as initial and adjuvant treatment for Kawasaki disease. Copyright © 2017. Published by Elsevier B.V.

  14. Predicting Coronary Artery Aneurysms in Kawasaki Disease at a North American Center: An Assessment of Baseline z Scores.

    Science.gov (United States)

    Son, Mary Beth F; Gauvreau, Kimberlee; Kim, Susan; Tang, Alexander; Dedeoglu, Fatma; Fulton, David R; Lo, Mindy S; Baker, Annette L; Sundel, Robert P; Newburger, Jane W

    2017-05-31

    Accurate risk prediction of coronary artery aneurysms (CAAs) in North American children with Kawasaki disease remains a clinical challenge. We sought to determine the predictive utility of baseline coronary dimensions adjusted for body surface area ( z scores) for future CAAs in Kawasaki disease and explored the extent to which addition of established Japanese risk scores to baseline coronary artery z scores improved discrimination for CAA development. We explored the relationships of CAA with baseline z scores; with Kobayashi, Sano, Egami, and Harada risk scores; and with the combination of baseline z scores and risk scores. We defined CAA as a maximum z score (zMax) ≥2.5 of the left anterior descending or right coronary artery at 4 to 8 weeks of illness. Of 261 patients, 77 patients (29%) had a baseline zMax ≥2.0. CAAs occurred in 15 patients (6%). CAAs were strongly associated with baseline zMax ≥2.0 versus Baseline zMax ≥2.0 had a C statistic of 0.77, good sensitivity (80%), and excellent negative predictive value (98%). None of the risk scores alone had adequate discrimination. When high-risk status per the Japanese risk scores was added to models containing baseline zMax ≥2.0, none were significantly better than baseline zMax ≥2.0 alone. In a North American center, baseline zMax ≥2.0 in children with Kawasaki disease demonstrated high predictive utility for later development of CAA. Future studies should validate the utility of our findings. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.

  15. Urinary Colorimetric Sensor Array and Algorithm to Distinguish Kawasaki Disease from Other Febrile Illnesses.

    Directory of Open Access Journals (Sweden)

    Zhen Li

    Full Text Available Kawasaki disease (KD is an acute pediatric vasculitis of infants and young children with unknown etiology and no specific laboratory-based test to identify. A specific molecular diagnostic test is urgently needed to support the clinical decision of proper medical intervention, preventing subsequent complications of coronary artery aneurysms. We used a simple and low-cost colorimetric sensor array to address the lack of a specific diagnostic test to differentiate KD from febrile control (FC patients with similar rash/fever illnesses.Demographic and clinical data were prospectively collected for subjects with KD and FCs under standard protocol. After screening using a genetic algorithm, eleven compounds including metalloporphyrins, pH indicators, redox indicators and solvatochromic dye categories, were selected from our chromatic compound library (n = 190 to construct a colorimetric sensor array for diagnosing KD. Quantitative color difference analysis led to a decision-tree-based KD diagnostic algorithm.This KD sensing array allowed the identification of 94% of KD subjects (receiver operating characteristic [ROC] area under the curve [AUC] 0.981 in the training set (33 KD, 33 FC and 94% of KD subjects (ROC AUC: 0.873 in the testing set (16 KD, 17 FC. Color difference maps reconstructed from the digital images of the sensing compounds demonstrated distinctive patterns differentiating KD from FC patients.The colorimetric sensor array, composed of common used chemical compounds, is an easily accessible, low-cost method to realize the discrimination of subjects with KD from other febrile illness.

  16. Serum albumin level predicts initial intravenous immunoglobulin treatment failure in Kawasaki disease.

    Science.gov (United States)

    Kuo, Ho-Chang; Liang, Chi-Di; Wang, Chih-Lu; Yu, Hong-Ren; Hwang, Kao-Pin; Yang, Kuender D

    2010-10-01

    Kawasaki disease (KD) is a systemic vasculitis primarily affecting children who are initial IVIG treatment. This study was conducted to investigate the risk factors for initial IVIG treatment failure in KD. Children who met KD diagnosis criteria and were admitted for IVIG treatment were retrospectively enrolled for analysis. Patients were divided into IVIG-responsive and IVIG-resistant groups. Initial laboratory data before IVIG treatment were collected for analysis. A total of 131 patients were enrolled during the study period. At 48 h after completion of initial IVIG treatment, 20 patients (15.3%) had an elevated body temperature. Univariate analysis showed that patients who had initial findings of high neutrophil count, abnormal liver function, low serum albumin level (≤2.9 g/dL) and pericardial effusion were at risk for IVIG treatment failure. Multivariate analysis with a logistic regression procedure showed that serum albumin level was considered the independent predicting factor of IVIG resistance in patients with KD (p = 0.006, OR = 40, 95% CI: 52.8-562). There was no significant correlation between age, gender, fever duration before IVIG treatment, haemoglobin level, total leucocyte and platelet counts, C-reactive protein level, or sterile pyuria and initial IVIG treatment failure. The specificity and sensitivity for prediction of IVIG treatment failure in this study were 96% and 34%, respectively. Pre-IVIG treatment serum albumin levels are a useful predictor of IVIG resistance in patients with KD. © 2010 The Author(s)/Journal Compilation © 2010 Foundation Acta Paediatrica.

  17. Incomplete Kawasaki disease in patients younger than 1 year of age: a possible inherent risk factor.

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    Yeo, Yunku; Kim, TaeYeon; Ha, KeeSoo; Jang, GiYoung; Lee, JungHwa; Lee, KwangChul; Son, ChangSung; Lee, JooWon

    2009-02-01

    Kawasaki disease (KD) patients younger than 1 year of age are at especially high risk of developing coronary artery abnormalities (CAA). To define the clinical characteristics of this group, as well as the risk factors predisposing them to CAA, we reviewed the medical records of 136 KD patients younger than 1 year of age who were treated at the Korea University Medical Center from January 2001 to July 2006. Of these patients, 16 developed CAA (11.8%). The CAA(+) group had a longer duration of total fever than the CAA(-) group (9.1+/-3.7 days vs. 6.3+/-2.0 days, p=0.011), but did not differ in the duration of pre- and post-intravenous gamma-globulin (IVGG) fever. The CAA(+) group had fewer diagnostic symptoms than the CAA(-) group (2.7+/-1.1 vs. 4.3+/-1.2, p<0.001). Of the hematological findings, the CAA(+) group only differed from the CAA(-) group in having significantly higher total white blood cell (19.2+/-6.0 vs. 14.7+/-4.7 K/mm(3), p=0.007) and platelet (462.9+/-101.0 vs. 383.6+/-121.1 K/mm(3), p=0.014) levels. Multivariable logistic regression analysis showed that the only factors which were significantly associated with the development of CAA were the total number of symptoms (OR=0.493, 95% CI=0.293-0.829, p=0.007) and the duration of total fever (OR=1.405, 95% CI=1.092-1.808, p=0.008). Conclusively, incomplete clinical manifestations and a longer duration of total fever are significantly associated with the development of CAA in KD patients younger than 1 year of age. Therefore, these patients should be monitored for incomplete KD, especially if unexplained fever continues, and treatment to shorten the duration of total fever should be initiated.

  18. Hepcidin-Induced Iron Deficiency Is Related to Transient Anemia and Hypoferremia in Kawasaki Disease Patients

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    Huang, Ying-Hsien; Kuo, Ho-Chang; Huang, Fu-Chen; Yu, Hong-Ren; Hsieh, Kai-Sheng; Yang, Ya-Ling; Sheen, Jiunn-Ming; Li, Sung-Chou; Kuo, Hsing-Chun

    2016-01-01

    Kawasaki disease (KD) is a type of systemic vasculitis that primarily affects children under the age of five years old. For sufferers of KD, intravenous immunoglobulin (IVIG) has been found to successfully diminish the occurrence of coronary artery lesions. Anemia is commonly found in KD patients, and we have shown that in appropriately elevated hepcidin levels are related to decreased hemoglobin levels in these patients. In this study, we investigated the time period of anemia and iron metabolism during different stages of KD. A total of 100 patients with KD and 20 control subjects were enrolled in this study for red blood cell and hemoglobin analysis. Furthermore, plasma, urine hepcidin, and plasma IL-6 levels were evaluated using enzyme-linked immunosorbent assay in 20 KD patients and controls. Changes in hemoglobin, plasma iron levels, and total iron binding capacity (TIBC) were also measured in patients with KD. Hemoglobin, iron levels, and TIBC were lower (p < 0.001, p = 0.009, and p < 0.001, respectively) while plasma IL-6 and hepcidin levels (both p < 0.001) were higher in patients with KD than in the controls prior to IVIG administration. Moreover, plasma hepcidin levels were positively and significantly correlated with urine hepcidin levels (p < 0.001) prior to IVIG administration. After IVIG treatment, plasma hepcidin and hemoglobin levels significantly decreased (both p < 0.001). Of particular note was a subsequent gradual increase in hemoglobin levels during the three weeks after IVIG treatment; nevertheless, the hemoglobin levels stayed lower in KD patients than in the controls (p = 0.045). These findings provide a longitudinal study of hemoglobin changes and among the first evidence that hepcidin induces transient anemia and hypoferremia during KD’s acute inflammatory phase. PMID:27187366

  19. Hepcidin-Induced Iron Deficiency Is Related to Transient Anemia and Hypoferremia in Kawasaki Disease Patients

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    Ying-Hsien Huang

    2016-05-01

    Full Text Available Kawasaki disease (KD is a type of systemic vasculitis that primarily affects children under the age of five years old. For sufferers of KD, intravenous immunoglobulin (IVIG has been found to successfully diminish the occurrence of coronary artery lesions. Anemia is commonly found in KD patients, and we have shown that in appropriately elevated hepcidin levels are related to decreased hemoglobin levels in these patients. In this study, we investigated the time period of anemia and iron metabolism during different stages of KD. A total of 100 patients with KD and 20 control subjects were enrolled in this study for red blood cell and hemoglobin analysis. Furthermore, plasma, urine hepcidin, and plasma IL-6 levels were evaluated using enzyme-linked immunosorbent assay in 20 KD patients and controls. Changes in hemoglobin, plasma iron levels, and total iron binding capacity (TIBC were also measured in patients with KD. Hemoglobin, iron levels, and TIBC were lower (p < 0.001, p = 0.009, and p < 0.001, respectively while plasma IL-6 and hepcidin levels (both p < 0.001 were higher in patients with KD than in the controls prior to IVIG administration. Moreover, plasma hepcidin levels were positively and significantly correlated with urine hepcidin levels (p < 0.001 prior to IVIG administration. After IVIG treatment, plasma hepcidin and hemoglobin levels significantly decreased (both p < 0.001. Of particular note was a subsequent gradual increase in hemoglobin levels during the three weeks after IVIG treatment; nevertheless, the hemoglobin levels stayed lower in KD patients than in the controls (p = 0.045. These findings provide a longitudinal study of hemoglobin changes and among the first evidence that hepcidin induces transient anemia and hypoferremia during KD’s acute inflammatory phase.

  20. Urinary Lactate Dehydrogenase Activity and Its Isozyme Patterns in Kawasaki Disease

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    Yoichi Kawamura

    2017-01-01

    Full Text Available Abnormal urinary findings, such as sterile pyuria, proteinuria, and microscopic hematuria, are often seen in the acute phase of Kawasaki disease (KD. We investigated the potential significance of urinary lactate dehydrogenase (U-LDH activity and its isozyme patterns in KD. Total U-LDH activity and its isozymes (U-LDH1-5 levels were compared among 120 patients with KD, 18 patients with viral infection (VI, and 43 patients with upper urinary tract infection (UTI and additionally compared between intravenous immunoglobulin (IVIG responders (n=89 and nonresponders (n=31 with KD. Total U-LDH activity was higher in KD (35.4±4.8 IU/L, P<0.05 and UTI patients (66.0±8.0 IU/L, P<0.01 than in VI patients (17.0±6.2 IU/L. In the isozyme pattern analysis, KD patients had high levels of U-LDH1 and U-LDH2, while UTI patients had high levels of U-LDH3, U-LDH4, and U-LDH5. Furthermore, IVIG nonresponders of KD had significantly higher levels of total U-LDH activity (45.1±4.7 IU/L, P<0.05, especially U-LDH1 and U-LDH2 (P<0.05, than IVIG responders (32.0±2.8 IU/L. KD patients have increased levels of total U-LDH activity, especially U-LDH-1 and U-LDH2, indicating a unique pattern of U-LDH isozymes different from that in UTI patients.

  1. Decreasing fertility rate correlates with the chronological increase and geographical variation in incidence of Kawasaki disease in Japan.

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    Yoshiro Nagao

    Full Text Available BACKGROUND: Kawasaki disease (KD is a common cause of acquired paediatric heart disease in developed countries. KD was first identified in the 1960s in Japan, and has been steadily increasing since it was first reported. The aetiology of KD has not been defined, but is assumed to be infection-related. The present study sought to identify the factor(s that mediate the geographical variation and chronological increase of KD in Japan. METHODS AND FINDINGS: Based upon data reported between 1979 and 2010 from all 47 prefectures in Japan, the incidence and mean patient age at the onset of KD were estimated. Using spatial and time-series analyses, incidence and mean age were regressed against climatic/socioeconomic variables. Both incidence and mean age of KD were inversely correlated with the total fertility rate (TFR; i.e., the number of children that would be born to one woman. The extrapolation of a time-series regressive model suggested that KD emerged in the 1960s because of a dramatic decrease in TFR in the 1940s through the 1950s. CONCLUSIONS: Mean patient age is an inverse surrogate for the hazard of contracting the aetiologic agent. Therefore, the observed negative correlation between mean patient age and TFR suggests that a higher TFR is associated with KD transmission. This relationship may be because a higher TFR facilitates sibling-to-sibling transmission. Additionally, the observed inverse correlation between incidence and TFR implies a paradoxical "negative" correlation between the incidence and the hazard of contracting the aetiologic agent. It was hypothesized that a decreasing TFR resulted in a reduced hazard of contracting the agent for KD, thereby increasing KD incidence.

  2. Predicting the characteristics of the aetiological agent for Kawasaki disease from other paediatric infectious diseases in Japan.

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    Nagao, Y; Urabe, C; Nakamura, H; Hatano, N

    2016-02-01

    Although Kawasaki disease (KD), which was first reported in the 1960s, is assumed to be infectious, its aetiological agent(s) remains unknown. We compared the geographical distribution of the force of infection and the super-annual periodicity of KD and seven other paediatric infectious diseases in Japan. The geographical distribution of the force of infection, which was estimated as the inverse of the mean patient age, was similar in KD and other paediatric viral infections. This similarity was due to the fact that the force of infection was determined largely by the total fertility rate. This finding suggests that KD shares a transmission route, i.e. sibling-to-sibling infection, with other paediatric infections. The super-annual periodicity, which is positively associated with the sum of an infectious disease's incubation period and infectious period, was much longer for KD and exanthema subitum than other paediatric infectious diseases. The virus for exanthema subitum is known to persist across the host's lifespan, which suggests that the aetiological agent for KD may also be capable of persistent infection. Taken together, these findings suggest that the aetiological agent for KD is transmitted through close contact and persists asymptomatically in most hosts.

  3. Role of Antioxidants in Horse Serum-mediated Vasculitis in Swine: Potential Relevance to Early Treatment in Mitigation of Coronary Arteritis in Kawasaki Disease

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    Saji Philip

    2017-08-01

    Conclusion: Serum sickness is a prototype of immune complex vasculitis, and the severity can be ameliorated with antioxidants. A trial of therapeutic dosages of vitamins A, E, and C in acute phase of Kawasaki disease, may be effective in mitigation of coronary artery lesion in addition to intravenous immunoglobulin and aspirin.

  4. Lack of association between infection with a novel human coronavirus (HCoV), HCoV-NH, and Kawasaki disease in Taiwan

    NARCIS (Netherlands)

    Chang, Luan-Yin; Chiang, Bor-Luen; Kao, Chuan-Liang; Wu, Mei-Hwan; Chen, Pei-Jer; Berkhout, Ben; Yang, Hui-Ching; Huang, Li-Min

    2006-01-01

    We investigated whether infection with a novel human coronavirus (HCoV), called "New Haven coronavirus" (HCoV-NH)--which is similar to and likely represents the same species as another novel HCoV, HCoV-NL63--is associated with Kawasaki disease (KD) in Taiwan. Fifty-three patients with KD were

  5. LABORATORY BIOMARKERS TO FACILITATE DIFFERENTIAL DIAGNOSIS BETWEEN MEASLES AND KAWASAKI DISEASE IN A PEDIATRIC EMERGENCY ROOM: A RETROSPECTIVE STUDY

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    Danilo Buonsenso

    2018-05-01

    Full Text Available This retrospective study was conducted to analyze clinical and laboratoristic parameters to individuate specific differences and facilitate differential diagnosis between Measles and Kawasaki Disease (KD at first evaluation in a emergency room. We found similar clinical features as duration of fever and number of KD criteria (p >0.5 but significant differences in white blood cell count, neutrophils, CRP and LDH levels (p < 0.001. LDH value ≥ 800 mg/dl had sensibility of 89% and specificity of 90% for Measles while CRP ≥ 3 mg/dl had sensibility 89% and specificity of 85% for KD. The combined use of CRP, LDH and AST showed accuracy of 86.67%.

  6. Acute kidney injury and cholestasis associated with Kawasaki disease in a 9-year-old: Case report.

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    Martínez Vázquez, José Allan; Sánchez García, Carlos; Rodríguez Muñoz, Lorena; Martínez Ramírez, Rogelio Osvaldo

    2017-12-15

    Kawasaki disease (KD) is a systemic vasculitis frequent in children younger than 5 years of age. It involves coronary arteries and other medium-sized vessels. There also exists evidence of inflammatory and proliferative changes affecting the biliary tract and lymphocyte infiltration of the renal interstitial. We describe the case of a 9-year-old girl who developed high-grade fever, bilateral non-purulent conjunctivitis, «strawberry» tongue, desquamation of the fingers and toes, cholestatic syndrome, edema and elevated serum creatinine. KD is a diagnostic challenge for the pediatrician. In every patient with high-grade fever, cholestasis and acute kidney injury, KD should be included in the differential diagnosis, even though more research is necessary to evaluate this atypical association. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  7. An evaluation of coronary artery lesions of Kawasaki disease and congenital heart disease using rotary three dimensional digital cardiovascular angiography

    International Nuclear Information System (INIS)

    Watanabe, Masanori; Ogawa, Shunichi; Kumazaki, Tatsuo; Hirayama, Tsuneo

    1994-01-01

    Congenital heart disease and the coronary artery lesions of children suffering from Kawasaki disease were evaluated by cardiovascular angiography using a newly developed rotary three-dimensional digital angiography method, and the usefulness of the device was examined. This method enable the observation of lesions from 144 directions within a 180 degree range depicting an image from optimal directions. In addition, the radiation exposure during one angiography was about one fifth of that of conventional cineangiography. With regard to the lesions of the coronary artery, identification of the localization of the stenotic lesions were made possible, especially at bifurcations, or the stenotic lesions overlapping with other bifurcations or coronary arteries aneurysms as well as the structure at the ostium of the left and right coronary arteries, which were difficult to identify using conventional coronary artery angiography. For the case of patient ductus arteriosus or major aortopulmonary collateral artery (MAPCA), separation and imaging of the overlap with other blood vessels through the three-dimensional observation became possible. This method is effective for the evaluation of the site, direction and morphology of these arteries. With regard to stenosis of the right ventricular outflow tract, the morphology and the degree of stenosis could be evaluated more accurately than by conventional cineangiography. In addition, the images matched well with the operative findings. This method was also effective for the diagnosis and evaluation of the stenosis at the main pulmonary artery and stenosis of the bifurcation of the right and left pulmonary arteries overlapping with the main trunk of the pulmonary artery. The problem with this method is that it cannot be used for the quantitative evaluation of the cardiac function because it cannot take images from multiple directions at the same time or cannot take temporal images from one direction. (author)

  8. Assessment of coronary artery aneurysms in paediatric patients with Kawasaki disease by multidetector row CT angiography: feasibility and comparison with 2D echocardiography

    International Nuclear Information System (INIS)

    Chu, W.C.W.; Lam, W.W.M.; Mok, G.C.F.; Yam, M.; Sung, R.Y.T.

    2006-01-01

    Transthoracic ECHO is the locally accepted method for coronary surveillance of patients with Kawasaki disease but it may have limited visualization in the older child. To assess the feasibility of multidetector CT (MDCT) angiography in the follow-up of coronary artery aneurysms in children with previous Kawasaki disease. Six children (5 boys, 1 girl; mean age 11.5 years) with known Kawasaki disease and coronary artery involvement underwent CT coronary angiography using 16-detector MDCT. The visualized lengths and diameter of all coronary segments were measured. The number, size and location of coronary artery aneurysms were recorded and compared with recent ECHO. Twelve coronary artery aneurysms (seven saccular, five fusiform) were identified by MDCT angiography. One saccular aneurysm at the junction of the distal right coronary artery and posterior descending artery was not detected by ECHO while the remaining six in proximal segments were detected by both modalities. Two of five fusiform aneurysms were not detected by ECHO due to their small sizes. Excellent agreement was found between CT and ECHO for maximal diameter and length of the visualized aneurysms. MDCT angiography accurately defines coronary artery aneurysms. It is more sensitive for detecting aneurysms at distal coronary segments and fusiform aneurysms of small size

  9. Evidence of correlation between TGFBR2 gene expression mediated by NF-kB signaling pathways and Kawasaki disease in children.

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    Gao, Qinling; Yuan, Shuhua; Yuan, Dawei

    2017-09-15

    We explored the correlation between the TGFBR2 gene that is mediated by NF-kb signaling pathways and the pathogenesis of Kawasaki disease in children. In this study, 43 children with Kawasaki disease from April 2014 to January 2016 at our hospital were selected as the observation group, and 42 healthy children were selected as the control group. The mRNA expression levels of NF-kb gene and TGFBR2 gene in different groups were detected using fluorescence quantitative PCR. The protein expression levels of the NF-kb and TGFBR2 were detected using enzyme-linked immunosorbent assay (ELISA) in different groups. The expression levels of NF-kb and TGFBR2 in the observation group and the control group were detected using immunohistochemistry. Compared to the control group, the mRNA expression levels of NF-kb and TGFBR2 were 12.3 times and 27.5 times as high as those in the control group respectively and there were significant differences between the two groups (pkb and TGFBR2 in the control group (0.87±0.12, 1.25±0.18) ug/l and those in the observation group (3.27±0.17, 8.16±0.22) ug/l (pkB and TGFBR2 in children with Kawasaki disease were significantly higher than those in healthy subjects (pkB signaling pathways.

  10. Lack of association between miR-218 rs11134527 A>G and Kawasaki disease susceptibility.

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    Pi, Lei; Fu, Lanyan; Xu, Yufen; Che, Di; Deng, Qiulian; Huang, Xijing; Li, Meiai; Zhang, Li; Huang, Ping; Gu, Xiaoqiong

    2018-05-01

    Abstract Kawasaki disease (KD) is a type of disease that includes the development of a fever that lasts at least five days and involves the clinical manifestation of multicellular vasculitis. KD has become one of the most common pediatric cardiovascular diseases. Previous studies have reported that miR-218 rs11134527 A>G is associated with susceptibility to various cancer risks. However, there is a lack of evidence regarding the relationship between this polymorphism and KD risk. This study explored the correlation between the miR-218 rs11134527 A>G polymorphism and the risk of KD. We recruited 532 patients with KD and 623 controls to genotype the miR-218 rs11134527 A>G polymorphism with a TaqMan allelic discrimination assay. Our results illustrated that the miR-218 rs11134527 A>G polymorphism was not associated with KD risk. In an analysis stratified by age, sex, and coronary artery lesions, we found only that the risk of KD was significantly decreased for children older than 5 years (GG vs. AA/AG: adjusted OR=0.26, 95% CI=0.07-0.94, P =0.041). This study demonstrated that the miR-218 rs1113452 A>G polymorphism may have an age-related relationship with KD susceptibility that has not previously been revealed. ©2018 The Author(s).

  11. Kawasaki disease: a rare pediatric pathology in Mexico. Twenty cases report from the Hospital Infantil del Estado de Sonora.

    Science.gov (United States)

    Sotelo, Norberto; González, Luis Antonio

    2007-01-01

    Kawasaki disease (KD) is an etiological illness that is relatively unknown and scarcely identified in Mexico; it affects children mainly aged 1-4 years, evolves with fever, vasculitis in diverse organs, and in the heart the disease mainly affects the coronary arteries. Our aim was to inform the clinical findings and evolution of 20 patients diagnosed with KD. We reviewed the patient clinical files retrospectively and descriptively to obtain information with regard to age, sex, clinical signs, laboratory and consultory results, echocardiography findings, complications, evolution during hospitalization, followup, and out-patient ambulatory consultations. Eighteen patients were male, two were female, six developed coronary damage, two aortic mitral-valve insufficiency, one pericardial shedding, and one, myocarditis. All patients received gamma globulin treatment with aspirin, and 16 were controlled during 6-8 months after the acute medical profile. The opportune clinical diagnostic it is fundamental to establish an early treatment with gammmaglobuline to avoid injuries in the arterial coronary level. This injury may cause eventualy ischemia or myocardial infarct

  12. Increased Risk of Atopic Dermatitis in Preschool Children with Kawasaki Disease: A Population-Based Study in Taiwan

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    Peng Yeong Woon

    2013-01-01

    Full Text Available Kawasaki disease (KD is an acute febrile systemic vasculitis and has been reported to be associated with allergic disease. The risk of atopic dermatitis (AD in preschool children with KD has not been investigated. The study was to determine the longitudinal risk of the development of AD in preschool children with KD. A nationwide 5-year population-based study was performed using data from the National Health Insurance Database in Taiwan between 1999 and 2003. The risk factors for AD were compared between the 2 study groups during the follow-up period using the Cox proportional hazards model. In addition, plasma interleukin (IL-5 levels were analyzed in normal subjects and KD patients. Among the 1440 subjects included, 21.6% developed AD during the 5-year follow-up period, of which 30.3% and 18.7% belonged to the study cohort and the comparison group, respectively. Children with KD were 1.25 times more likely to have AD than those in controls (P=0.04. Levels of IL-5 and IgE were significantly higher in KD patients. Children with KD had a higher risk of developing AD during the 5-year follow-up period than the control group. Increased IL-5 and IgE levels may be key factors contributing to the risk of AD.

  13. Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK in disease susceptibility.

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    Chia-Jung Chang

    Full Text Available The BLK and CD40 loci have been associated with Kawasaki disease (KD in two genome-wide association studies (GWAS conducted in a Taiwanese population of Han Chinese ancestry (Taiwanese and in Japanese cohorts. Here we build on these findings with replication studies of the BLK and CD40 loci in populations of Korean and European descent. The BLK region was significantly associated with KD susceptibility in both populations. Within the BLK gene the rs2736340-located linkage disequilibrium (LD comprising the promoter and first intron was strongly associated with KD, with the combined results of Asian studies including Taiwanese, Japanese, and Korean populations (2,539 KD patients and 7,021 controls providing very compelling evidence of association (rs2736340, OR = 1.498, 1.354-1.657; P = 4.74×10(-31. We determined the percentage of B cells present in the peripheral blood mononuclear cell (PBMC population and the expression of BLK in the peripheral blood leukocytes (leukocytes of KD patients during the acute and convalescent stages. The percentage of B cells in the PBMC population and the expression of BLK in leukocytes were induced in patients in the acute stage of KD. In B cell lines derived from KD patients, and in purified B cells from KD patients obtained during the acute stage, those with the risk allele of rs2736340 expressed significantly lower levels of BLK. These results suggest that peripheral B cells play a pathogenic role during the acute stage of KD. Decreased BLK expression in peripheral blood B cells may alter B cell function and predispose individuals to KD. These associative data suggest a role for B cells during acute KD. Understanding the functional implications may facilitate the development of B cell-mediated therapy for KD.

  14. Building a Natural Language Processing Tool to Identify Patients With High Clinical Suspicion for Kawasaki Disease from Emergency Department Notes.

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    Doan, Son; Maehara, Cleo K; Chaparro, Juan D; Lu, Sisi; Liu, Ruiling; Graham, Amanda; Berry, Erika; Hsu, Chun-Nan; Kanegaye, John T; Lloyd, David D; Ohno-Machado, Lucila; Burns, Jane C; Tremoulet, Adriana H

    2016-05-01

    Delayed diagnosis of Kawasaki disease (KD) may lead to serious cardiac complications. We sought to create and test the performance of a natural language processing (NLP) tool, the KD-NLP, in the identification of emergency department (ED) patients for whom the diagnosis of KD should be considered. We developed an NLP tool that recognizes the KD diagnostic criteria based on standard clinical terms and medical word usage using 22 pediatric ED notes augmented by Unified Medical Language System vocabulary. With high suspicion for KD defined as fever and three or more KD clinical signs, KD-NLP was applied to 253 ED notes from children ultimately diagnosed with either KD or another febrile illness. We evaluated KD-NLP performance against ED notes manually reviewed by clinicians and compared the results to a simple keyword search. KD-NLP identified high-suspicion patients with a sensitivity of 93.6% and specificity of 77.5% compared to notes manually reviewed by clinicians. The tool outperformed a simple keyword search (sensitivity = 41.0%; specificity = 76.3%). KD-NLP showed comparable performance to clinician manual chart review for identification of pediatric ED patients with a high suspicion for KD. This tool could be incorporated into the ED electronic health record system to alert providers to consider the diagnosis of KD. KD-NLP could serve as a model for decision support for other conditions in the ED. © 2016 by the Society for Academic Emergency Medicine.

  15. The Role of IL-1 signaling in a mouse model of Kawasaki Disease-associated Abdominal Aortic Aneurysm

    Science.gov (United States)

    Wakita, Daiko; Kurashima, Yosuke; Crother, Timothy R.; Rivas, Magali Noval; Lee, Youngho; Chen, Shuang; Fury, Wen; Bai, Yu; Wagner, Shawn; Li, Debiao; Lehman, Thomas; Fishbein, Michael C.; Hoffmann, Hal; Shah, Prediman K.; Shimada, Kenichi; Arditi, Moshe

    2016-01-01

    Objective Kawasaki disease (KD) is the most common cause of acquired cardiac disease in US children. In addition to coronary artery abnormalities and aneurysms, it can be associated with systemic arterial aneurysms. We evaluated the development of systemic arterial dilatation and aneurysms, including abdominal aortic aneurysm (AAA) in the Lactobacillus casei cell wall extract (LCWE)-induced KD vasculitis mouse model. Methods and Results We discovered that in addition to aortitis, coronary arteritis and myocarditis, the LCWE-induced KD mouse model is also associated with abdominal aorta dilatation and AAA, as well as renal and iliac artery aneurysms. AAA induced in KD mice was exclusively infrarenal, both fusiform and saccular, with intimal proliferation, myofibroblastic proliferation, break in the elastin layer, vascular smooth muscle cell loss, and inflammatory cell accumulation in the media and adventitia. Il1r−/−, Il1a−/−, and Il1a−/− mice were protected from KD associated AAA. Infiltrating CD11c+ macrophages produced active caspase-1 and caspase-1 or NLRP3 deficiency inhibited AAA formation. Treatment with IL-1R antagonist (Anakinra), anti-IL-1α, or anti-IL-1β mAb blocked LCWE-induced AAA formation. Conclusions Similar to clinical KD, the LCWE-induced KD vasculitis mouse model can also be accompanied by AAA formation. Both IL-1α and IL-1β play a key role, and that use of an IL-1R blocking agent that inhibits both pathways may be a promising therapeutic target not only for KD coronary arteritis, but also for the other systemic arterial aneurysms including AAA that maybe seen in severe cases of KD. The LCWE-induced vasculitis model may also represent an alternative model for AAA disease. PMID:26941015

  16. Imaging findings in systemic childhood diseases presenting with dermatologic manifestations.

    Science.gov (United States)

    Fink, Adam Z; Gittler, Julia K; Nakrani, Radhika N; Alis, Jonathan; Blumfield, Einat; Levin, Terry L

    Many childhood diseases often present with skin abnormalities with which radiologists are largely unfamiliar. Knowledge of associated dermatologic manifestations may aid the radiologist in confirming the diagnosis and recommending targeted imaging of affected organs. We review the imaging findings in childhood diseases associated with dermatologic manifestations. Diseases include dermatologic findings which herald underlying malignancy (Neuroblastoma, leukemia/lymphoma, Langerhans cell histiocytosis),are associated with risk of malignancy (Epidermolysis Bullosa, basal cell nevus syndrome, Cowden's syndrome, Tuberous Sclerosis),or indicate a systemic inflammatory/immune disorder (Kawasaki's disease, Henoch Schonlein Purpura, systemic lupus erythematosus, scleroderma, sarcoidosis, dermatomyositis and immune thrombocytopenic purpura). Familiarity with pertinent findings in childhood diseases presenting with dermatologic manifestations in childhood diseases aids the radiologist in confirming the diagnosis and guiding imaging workup. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.

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    Fuu-Jen Tsai

    Full Text Available Kawasaki disease (KD is an acute systemic vasculitis syndrome that primarily affects infants and young children. Its etiology is unknown; however, epidemiological findings suggest that genetic predisposition underlies disease susceptibility. Taiwan has the third-highest incidence of KD in the world, after Japan and Korea. To investigate novel mechanisms that might predispose individuals to KD, we conducted a genome-wide association study (GWAS in 250 KD patients and 446 controls in a Han Chinese population residing in Taiwan, and further validated our findings in an independent Han Chinese cohort of 208 cases and 366 controls. The most strongly associated single-nucleotide polymorphisms (SNPs detected in the joint analysis corresponded to three novel loci. Among these KD-associated SNPs three were close to the COPB2 (coatomer protein complex beta-2 subunit gene: rs1873668 (p = 9.52×10⁻⁵, rs4243399 (p = 9.93×10⁻⁵, and rs16849083 (p = 9.93×10⁻⁵. We also identified a SNP in the intronic region of the ERAP1 (endoplasmic reticulum amino peptidase 1 gene (rs149481, p(best = 4.61×10⁻⁵. Six SNPs (rs17113284, rs8005468, rs10129255, rs2007467, rs10150241, and rs12590667 clustered in an area containing immunoglobulin heavy chain variable regions genes, with p(best-values between 2.08×10⁻⁵ and 8.93×10⁻⁶, were also identified. This is the first KD GWAS performed in a Han Chinese population. The novel KD candidates we identified have been implicated in T cell receptor signaling, regulation of proinflammatory cytokines, as well as antibody-mediated immune responses. These findings may lead to a better understanding of the underlying molecular pathogenesis of KD.

  18. Augmented TLR2 expression on monocytes in both human Kawasaki disease and a mouse model of coronary arteritis.

    Directory of Open Access Journals (Sweden)

    I-Chun Lin

    Full Text Available BACKGROUND: Kawasaki disease (KD of unknown immunopathogenesis is an acute febrile systemic vasculitis and the leading cause of acquired heart diseases in childhood. To search for a better strategy for the prevention and treatment of KD, this study compared and validated human KD immunopathogenesis in a mouse model of Lactobacillus casei cell wall extract (LCWE-induced coronary arteritis. METHODS: Recruited subjects fulfilled the criteria of KD and were admitted for intravenous gamma globulin (IVIG treatment at the Kaohsiung Chang Gung Memorial Hospital from 2001 to 2009. Blood samples from KD patients were collected before and after IVIG treatment, and cardiovascular abnormalities were examined by transthoracic echocardiography. Wild-type male BALB/c mice (4-week-old were intraperitoneally injected with LCWE (1 mg/mL to induce coronary arteritis. The induced immune response in mice was examined on days 1, 3, 7, and 14 post injections, and histopathology studies were performed on days 7 and 14. RESULTS: Both human KD patients and LCWE-treated mice developed coronary arteritis, myocarditis, valvulitis, and pericarditis, as well as elevated plasma levels of interleukin (IL-2, IL-6, IL-10, monocyte chemoattractant protein (MCP-1, and tumor necrosis factor (TNF-α in acute phase. Most of these proinflammatory cytokines declined to normal levels in mice, whereas normal levels were achieved in patients only after IVIG treatment, with a few exceptions. Toll-like receptor (TLR-2, but not TLR4 surface enhancement on circulating CD14+ monocytes, was augmented in KD patients before IVIG treatment and in LCWE-treated mice, which declined in patients after IVIG treatment. CONCLUSION: This result suggests that that not only TLR2 augmentation on CD14+ monocytes might be an inflammatory marker for both human KD patients and LCWE-induced CAL mouse model but also this model is feasible for studying therapeutic strategies of coronary arteritis in human KD by

  19. Augmented TLR2 expression on monocytes in both human Kawasaki disease and a mouse model of coronary arteritis.

    Science.gov (United States)

    Lin, I-Chun; Kuo, Ho-Chang; Lin, Ying-Jui; Wang, Feng-Shen; Wang, Lin; Huang, Shun-Chen; Chien, Shao-Ju; Huang, Chien-Fu; Wang, Chih-Lu; Yu, Hong-Ren; Chen, Rong-Fu; Yang, Kuender D

    2012-01-01

    Kawasaki disease (KD) of unknown immunopathogenesis is an acute febrile systemic vasculitis and the leading cause of acquired heart diseases in childhood. To search for a better strategy for the prevention and treatment of KD, this study compared and validated human KD immunopathogenesis in a mouse model of Lactobacillus casei cell wall extract (LCWE)-induced coronary arteritis. Recruited subjects fulfilled the criteria of KD and were admitted for intravenous gamma globulin (IVIG) treatment at the Kaohsiung Chang Gung Memorial Hospital from 2001 to 2009. Blood samples from KD patients were collected before and after IVIG treatment, and cardiovascular abnormalities were examined by transthoracic echocardiography. Wild-type male BALB/c mice (4-week-old) were intraperitoneally injected with LCWE (1 mg/mL) to induce coronary arteritis. The induced immune response in mice was examined on days 1, 3, 7, and 14 post injections, and histopathology studies were performed on days 7 and 14. Both human KD patients and LCWE-treated mice developed coronary arteritis, myocarditis, valvulitis, and pericarditis, as well as elevated plasma levels of interleukin (IL)-2, IL-6, IL-10, monocyte chemoattractant protein (MCP)-1, and tumor necrosis factor (TNF)-α in acute phase. Most of these proinflammatory cytokines declined to normal levels in mice, whereas normal levels were achieved in patients only after IVIG treatment, with a few exceptions. Toll-like receptor (TLR)-2, but not TLR4 surface enhancement on circulating CD14+ monocytes, was augmented in KD patients before IVIG treatment and in LCWE-treated mice, which declined in patients after IVIG treatment. This result suggests that that not only TLR2 augmentation on CD14+ monocytes might be an inflammatory marker for both human KD patients and LCWE-induced CAL mouse model but also this model is feasible for studying therapeutic strategies of coronary arteritis in human KD by modulating TLR2-mediated immune activation on CD14

  20. Role of Antioxidants in Horse Serum-mediated Vasculitis in Swine: Potential Relevance to Early Treatment in Mitigation of Coronary Arteritis in Kawasaki Disease.

    Science.gov (United States)

    Philip, Saji; Lee, Wen-Chuan; Cherian, Kotturathu Mammen; Wu, Mei-Hwan; Lue, Hung-Chi

    2017-08-01

    Horse serum-induced immune complex coronary vasculitis in swine is the first experimental model to mimic most of the pictures of Kawasaki disease. Immune complex mechanism has been implicated as one of the possible mechanisms in the pathogenesis of vasculitis in Kawasaki disease. Antioxidants have a significant role in the reduction of cardiovascular diseases in both human and animal studies. We tried giving vitamins A, E, and C to treat immune complex vasculitis, in the hope of mitigating coronary vasculitis in Kawasaki disease. Our study group consisted of 30 pure bred male piglets of 2-3 months of age, and they were divided into test and control groups. The test (AEC) group (n = 20) received two doses of horse serum, 10 mL (0.65 g protein)/kg body weight at 5-day intervals, and oral vitamins A, E, and C once daily for 14 days. The control group (n = 10) was further divided into the saline group (n = 3) receiving two doses of normal saline and the horse serum group (n = 7) receiving two doses of horse serum at 5-day intervals. Piglets were observed for the rashes and coronary artery dimensions. Both the AEC and the control horse serum group developed rashes after horse serum infusions, but the AEC group developed significantly fewer rashes, and no rashes were seen in the saline group. The control horse serum group (mean ± standard deviation = 2.13 ± 0.72) showed significant coronary artery dilatation, whereas there was no significant dilatation in the AEC group (mean ± standard deviation = 0.81 ± 0.58) or the control saline group (p = 0.002). Serum sickness is a prototype of immune complex vasculitis, and the severity can be ameliorated with antioxidants. A trial of therapeutic dosages of vitamins A, E, and C in acute phase of Kawasaki disease, may be effective in mitigation of coronary artery lesion in addition to intravenous immunoglobulin and aspirin. Copyright © 2017. Published by Elsevier B.V.

  1. Duration of high-dose aspirin therapy does not affect long-term coronary artery outcomes in Kawasaki disease.

    Science.gov (United States)

    Migally, Karl; Braunlin, Elizabeth A; Zhang, Lei; Binstadt, Bryce A

    2018-05-02

    BackgroundHigh-dose aspirin (HDA) is used with intravenous immunoglobulin (IVIg) in Kawasaki disease (KD). Practice regarding HDA varies, and it is unclear whether HDA duration affects the long-term course.MethodsWe retrospectively studied KD patients at our hospital for over 10 years. Patients were categorized as having received HDA for 0, 1-7, or >7 days. Primary outcome was the maximum coronary Z-score at diagnosis and follow-up; secondary outcomes included inflammatory markers.ResultsOne hundred and three patients had HDA duration documented, of which 35 patients had coronary artery abnormalities (CAAs) at diagnosis. There was no difference in demographics or inflammatory markers between the HDA groups, and no difference in HDA duration between patients with or without CAAs. Seventeen patients received no HDA; they had longer illness and defervescence duration before diagnosis, and were less likely to receive IVIg. For CAAs, multivariate regression revealed that HDA duration did not predict the coronary Z-score at 9-15 months. Higher Z-score at diagnosis was associated with higher Z-score at 9-15 months.ConclusionThe only factor associated with coronary Z-score at 9-15 months was the Z-score at diagnosis. At our institution, longer illness and defervescence duration and the lack of IVIg administration were associated with not administering HDA. HDA duration did not affect the clinically relevant outcomes, particularly CAA persistence.Pediatric Research advance online publication, 2 May 2018; doi:10.1038/pr.2018.44.

  2. Treatment response in Kawasaki disease is associated with sialylation levels of endogenous but not therapeutic intravenous immunoglobulin G.

    Science.gov (United States)

    Ogata, Shohei; Shimizu, Chisato; Franco, Alessandra; Touma, Ranim; Kanegaye, John T; Choudhury, Biswa P; Naidu, Natasha N; Kanda, Yutaka; Hoang, Long T; Hibberd, Martin L; Tremoulet, Adriana H; Varki, Ajit; Burns, Jane C

    2013-01-01

    Although intravenous immunoglobulin (IVIG) is highly effective in Kawasaki disease (KD), mechanisms are not understood and 10-20% of patients are treatment-resistant, manifesting a higher rate of coronary artery aneurysms. Murine models suggest that α2-6-linked sialic acid (α2-6Sia) content of IVIG is critical for suppressing inflammation. However, pro-inflammatory states also up-regulate endogenous levels of β-galactoside:α2-6 sialyltransferase-I (ST6Gal-I), the enzyme that catalyzes addition of α2-6Sias to N-glycans. We asked whether IVIG failures correlated with levels of α2-6Sia on infused IVIG or on the patient's own endogenous IgG. We quantified levels of α2-6Sia in infused IVIG and endogenous IgG from 10 IVIG-responsive and 10 resistant KD subjects using multiple approaches. Transcript levels of ST6GAL1, in patient whole blood and B cell lines were evaluated by RT-PCR. Plasma soluble (s)ST6Gal-I levels were measured by ELISA. There was no consistent difference in median sialylation levels of infused IVIG between groups. However, α2-6Sia levels in endogenous IgG, ST6GAL1 transcript levels, and ST6Gal-I protein in serum from IVIG-resistant KD subjects were lower than in responsive subjects at both pre-treatment and one-year time points (p treatment response in KD. Rather, lower sialylation of endogenous IgG and lower blood levels of ST6GALI mRNA and ST6Gal-I enzyme predict therapy resistance. These differences were stable over time, suggesting a genetic basis. Because IVIG-resistance increases risk of coronary artery aneurysms, our findings have important implications for the identification and treatment of such individuals.

  3. A simple method for assessment of human anti-Neu5Gc antibodies applied to Kawasaki disease.

    Directory of Open Access Journals (Sweden)

    Vered Padler-Karavani

    Full Text Available N-glycolylneuraminic acid (Neu5Gc is an immunogenic sugar of dietary origin that metabolically incorporates into diverse native glycoconjugates in humans. Anti-Neu5Gc antibodies are detected in all human sera, though with variable levels and epitope-recognition profiles. These antibodies likely play a role in several inflammation-mediated pathologies including cardiovascular diseases and cancer. In cancer, they have dualistic and opposing roles, either stimulating or repressing disease, as a function of their dose, and some of these antibodies serve as carcinoma biomarkers. Thus, anti-Neu5Gc antibodies may signify risk of inflammation-mediated diseases, and changes in their levels could potentially be used to monitor disease progression and/or response to therapy. Currently, it is difficult to determine levels of anti-Neu5Gc antibodies in individual human samples because these antibodies recognize multiple Neu5Gc-epitopes. Here we describe a simple and specific method for detection and overall estimation of human anti-Neu5Gc antibodies. We exploit the difference between two mouse models that differ only by Neu5Gc-presence (wild-type or Neu5Gc-absence (Cmah(-/- knockout. We characterize mouse serum from both strains by HPLC, lectin and mass-spectrometry analysis and show the target Neu5Gc-epitopes. We then use Cmah(-/- knockout sera to inhibit all non-Neu5Gc-reactivity followed by binding to wild-type sera to detect overall anti-Neu5Gc response in a single assay. We applied this methodology to characterize and quantify anti-Neu5Gc IgG and IgA in sera of patients with Kawasaki disease (KD at various stages compared to controls. KD is an acute childhood febrile disease characterized by inflammation of coronary arteries that untreated may lead to coronary artery aneurysms with risk of thrombosis and myocardial infarction. This estimated response is comparable to the average of detailed anti-Neu5Gc IgG profile analyzed by a sialoglycan microarray

  4. Disease: H01718 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available of patients show resistance to IVIG therapy and present higher risk of coronary vasculitis. If there is no r... H01718 Kawasaki disease; Mucocutaneous lymph node syndrome Kawasaki disease (KD) is an acute systemic vascu...litis of childhood that does not have a known cause or aetiology. KD is a self-limi

  5. Clinical characteristics and serum N-terminal pro-brain natriuretic peptide as a diagnostic marker of Kawasaki disease in infants younger than 3 months of age.

    Science.gov (United States)

    Bae, Hyun Kyung; Lee, Do Kyung; Kwon, Jung Hyun; Kim, Hae Soon; Sohn, Sejung; Hong, Young Mi

    2014-08-01

    The incidence of Kawasaki disease (KD) is rare in young infants (less than 3 months of age), who present with only a few symptoms that fulfill the clinical diagnostic criteria. The diagnosis for KD can therefore be delayed, leading to a high risk of cardiac complications. We examined the clinical characteristics and measured the serum levels of N-terminal pro-brain natriuretic peptide (NT-proBNP) levels of these patients for assessing its value in the early detection of KD. We retrospectively reviewed the data of young infants diagnosed with KD from 2004 to 2012. The control group included 20 hospitalized febrile patients. Laboratory data, including NT-proBNP were obtained for each patient in both groups. Incomplete KD was observed in 21/24 patients (87.5%). The mean fever duration on admission was 1.36±1.0 days in the KD group. Common symptoms included erythema at the site of Bacille Calmette-Guerin inoculation (70.8%), skin rash (50.0%), changes of oropharyngeal mucosa (29.1%), and cervical lymphadenopathy (20.8%). The mean number of major diagnostic criteria fulfilled was 2.8±1.4. Five KD patients (20.8%) had only one symptom matching these criteria. The incidence of coronary artery complications was 12.5%. The mean serum NT-proBNP level in the acute phase, in the KD and control groups, were 4,159±3,714 pg/mL and 957±902 pg/mL, respectively, which decreased significantly in the convalescent phase. Incomplete KD was observed in 87.5% patients. Serum NT-proBNP might be a valuable biomarker for the early detection of KD in febrile infants aged <3 months.

  6. Treatment response in Kawasaki disease is associated with sialylation levels of endogenous but not therapeutic intravenous immunoglobulin G.

    Directory of Open Access Journals (Sweden)

    Shohei Ogata

    Full Text Available Although intravenous immunoglobulin (IVIG is highly effective in Kawasaki disease (KD, mechanisms are not understood and 10-20% of patients are treatment-resistant, manifesting a higher rate of coronary artery aneurysms. Murine models suggest that α2-6-linked sialic acid (α2-6Sia content of IVIG is critical for suppressing inflammation. However, pro-inflammatory states also up-regulate endogenous levels of β-galactoside:α2-6 sialyltransferase-I (ST6Gal-I, the enzyme that catalyzes addition of α2-6Sias to N-glycans. We asked whether IVIG failures correlated with levels of α2-6Sia on infused IVIG or on the patient's own endogenous IgG.We quantified levels of α2-6Sia in infused IVIG and endogenous IgG from 10 IVIG-responsive and 10 resistant KD subjects using multiple approaches. Transcript levels of ST6GAL1, in patient whole blood and B cell lines were evaluated by RT-PCR. Plasma soluble (sST6Gal-I levels were measured by ELISA.There was no consistent difference in median sialylation levels of infused IVIG between groups. However, α2-6Sia levels in endogenous IgG, ST6GAL1 transcript levels, and ST6Gal-I protein in serum from IVIG-resistant KD subjects were lower than in responsive subjects at both pre-treatment and one-year time points (p <0.001, respectively.Our data indicate sialylation levels of therapeutic IVIG are unrelated to treatment response in KD. Rather, lower sialylation of endogenous IgG and lower blood levels of ST6GALI mRNA and ST6Gal-I enzyme predict therapy resistance. These differences were stable over time, suggesting a genetic basis. Because IVIG-resistance increases risk of coronary artery aneurysms, our findings have important implications for the identification and treatment of such individuals.

  7. Reassessment of carotid intima-media thickness by standard deviation score in children and adolescents after Kawasaki disease.

    Science.gov (United States)

    Noto, Nobutaka; Kato, Masataka; Abe, Yuriko; Kamiyama, Hiroshi; Karasawa, Kensuke; Ayusawa, Mamoru; Takahashi, Shori

    2015-01-01

    Previous studies that used carotid ultrasound have been largely conflicting in regards to whether or not patients after Kawasaki disease (KD) have a greater carotid intima-media thickness (CIMT) than controls. To test the hypothesis that there are significant differences between the values of CIMT expressed as absolute values and standard deviation scores (SDS) in children and adolescents after KD and controls, we reviewed 12 published articles regarding CIMT on KD patients and controls. The mean ± SD of absolute CIMT (mm) in the KD patients and controls obtained from each article was transformed to SDS (CIMT-SDS) using age-specific reference values established by Jourdan et al. (J: n = 247) and our own data (N: n = 175), and the results among these 12 articles were compared between the two groups and the references for comparison of racial disparities. There were no significant differences in mean absolute CIMT and mean CIMT-SDS for J between KD patients and controls (0.46 ± 0.06 mm vs. 0.44 ± 0.04 mm, p = 0.133, and 1.80 ± 0.84 vs. 1.25 ± 0.12, p = 0.159, respectively). However, there were significant differences in mean CIMT-SDS for N between KD patients and controls (0.60 ± 0.71 vs. 0.01 ± 0.65, p = 0.042). When we assessed the nine articles on Asian subjects, the difference of CIMT-SDS between the two groups was invariably significant only for N (p = 0.015). Compared with the reference values, CIMT-SDS of controls was within the normal range at a rate of 41.6 % for J and 91.6 % for N. These results indicate that age- and race-specific reference values for CIMT are mandatory for performing accurate assessment of the vascular status in healthy children and adolescents, particularly in those after KD considered at increased long-term cardiovascular risk.

  8. Usefulness of 64-slice MDCT for follow-up of young children with coronary artery aneurysm due to Kawasaki disease: initial experience.

    Science.gov (United States)

    Peng, Yun; Zeng, Jinjin; Du, Zhongdong; Sun, Guoqiang; Guo, Huling

    2009-03-01

    To evaluate the initial application and value of 64-slice multidetector computed tomography as an alternative diagnostic modality in the follow-up of young children with coronary artery aneurysm due to Kawasaki disease. Twelve boys (mean age 5.1 years, range 1.8-7.8 years) for follow-up (time range from 1.1 to 5.1 years) of known Kawasaki disease and coronary artery aneurysm underwent 64-slice MDCT ECG-gated coronary angiography. All data were acquired without breath holding. Two pediatric radiologists independently assessed image quality and the diameter of all coronary segments were measured for each patient. The number, position, shape and size of each coronary artery aneurysm were observed and compared with those of ECHO performed previously. A total of 118/156 segments permitted visualization with diagnostic image quality, the CT measurements showed good inter-observer and intra-observer reliability, coefficients were 0.93 and 0.88, respectively. A total of 30 coronary artery aneurysms were identified with measured mean of 7.5+/-3.8 mm in diameter, and of 12.4+/-9.1 mm in longitudinal lengths.10 tumors were small, 8 tumors were medium and 12 tumors were giant aneurysm. The affected segments included LM7/12(58.3%), 9/12(75%) of LAD1, 4/12(33.3%) of LAD2, 2/12(16.7%) of LCX1; 6/12(50%) of RCA1, 9/12(75%) of RCA2 and 4/12(33.3%) of RCA3, including affected two segments in 9 tumors and three segments in 1 tumor. Calcifications were found in 5 aneurysms and 3/5 with thrombosis; six stenotic segments were found. ECHO failed to detect 8 tumors with 2/8 in LAD, 1/8 in LCX and 5/8 in RCA, and those included 4 small aneurysms. The use of 64-slice MDCT angiography proved valuable for monitoring young children with Kawasaki disease. However, further study is necessary to specify the sensitivity and specificity of MDCT in the follow-up.

  9. Usefulness of 64-slice MDCT for follow-up of young children with coronary artery aneurysm due to Kawasaki disease: Initial experience

    International Nuclear Information System (INIS)

    Peng Yun; Zeng Jinjin; Du Zhongdong; Sun Guoqiang; Guo Huling

    2009-01-01

    To evaluate the initial application and value of 64-slice multidetector computed tomography as an alternative diagnostic modality in the follow-up of young children with coronary artery aneurysm due to Kawasaki disease. Twelve boys (mean age 5.1 years, range 1.8-7.8 years) for follow-up (time range from 1.1 to 5.1 years) of known Kawasaki disease and coronary artery aneurysm underwent 64-slice MDCT ECG-gated coronary angiography. All data were acquired without breath holding. Two pediatric radiologists independently assessed image quality and the diameter of all coronary segments were measured for each patient. The number, position, shape and size of each coronary artery aneurysm were observed and compared with those of ECHO performed previously. A total of 118/156 segments permitted visualization with diagnostic image quality, the CT measurements showed good inter-observer and intra-observer reliability, coefficients were 0.93 and 0.88, respectively. A total of 30 coronary artery aneurysms were identified with measured mean of 7.5 ± 3.8 mm in diameter, and of 12.4 ± 9.1 mm in longitudinal lengths.10 tumors were small, 8 tumors were medium and 12 tumors were giant aneurysm. The affected segments included LM7/12(58.3%), 9/12(75%) of LAD1, 4/12(33.3%) of LAD2, 2/12(16.7%) of LCX1; 6/12(50%) of RCA1, 9/12(75%) of RCA2 and 4/12(33.3%) of RCA3, including affected two segments in 9 tumors and three segments in 1 tumor. Calcifications were found in 5 aneurysms and 3/5 with thrombosis; six stenotic segments were found. ECHO failed to detect 8 tumors with 2/8 in LAD, 1/8 in LCX and 5/8 in RCA, and those included 4 small aneurysms. The use of 64-slice MDCT angiography proved valuable for monitoring young children with Kawasaki disease. However, further study is necessary to specify the sensitivity and specificity of MDCT in the follow-up.

  10. Usefulness of 64-slice MDCT for follow-up of young children with coronary artery aneurysm due to Kawasaki disease: Initial experience

    Energy Technology Data Exchange (ETDEWEB)

    Peng Yun [Imaging Center, Beijing Children' s Hospital Affiliated to Capital Medical University, 56, Nanlishi Road, Xicheng District, Beijing 100045 (China)], E-mail: ppengyun@yahoo.com; Zeng Jinjin [Imaging Center, Beijing Children' s Hospital Affiliated to Capital Medical University, 56, Nanlishi Road, Xicheng District, Beijing 100045 (China); Du Zhongdong [Pediatric Cardiovascular Department, Beijing Children' s Hospital Affiliated to Capital Medical University, 56, Nanlishi Road, Xicheng District, Beijing 100045 (China); Sun Guoqiang [Imaging Center, Beijing Children' s Hospital Affiliated to Capital Medical University, 56, Nanlishi Road, Xicheng District, Beijing 100045 (China); Guo Huling [Pediatric Cardiovascular Department, Beijing Children' s Hospital Affiliated to Capital Medical University, 56, Nanlishi Road, Xicheng District, Beijing 100045 (China)

    2009-03-15

    To evaluate the initial application and value of 64-slice multidetector computed tomography as an alternative diagnostic modality in the follow-up of young children with coronary artery aneurysm due to Kawasaki disease. Twelve boys (mean age 5.1 years, range 1.8-7.8 years) for follow-up (time range from 1.1 to 5.1 years) of known Kawasaki disease and coronary artery aneurysm underwent 64-slice MDCT ECG-gated coronary angiography. All data were acquired without breath holding. Two pediatric radiologists independently assessed image quality and the diameter of all coronary segments were measured for each patient. The number, position, shape and size of each coronary artery aneurysm were observed and compared with those of ECHO performed previously. A total of 118/156 segments permitted visualization with diagnostic image quality, the CT measurements showed good inter-observer and intra-observer reliability, coefficients were 0.93 and 0.88, respectively. A total of 30 coronary artery aneurysms were identified with measured mean of 7.5 {+-} 3.8 mm in diameter, and of 12.4 {+-} 9.1 mm in longitudinal lengths.10 tumors were small, 8 tumors were medium and 12 tumors were giant aneurysm. The affected segments included LM7/12(58.3%), 9/12(75%) of LAD1, 4/12(33.3%) of LAD2, 2/12(16.7%) of LCX1; 6/12(50%) of RCA1, 9/12(75%) of RCA2 and 4/12(33.3%) of RCA3, including affected two segments in 9 tumors and three segments in 1 tumor. Calcifications were found in 5 aneurysms and 3/5 with thrombosis; six stenotic segments were found. ECHO failed to detect 8 tumors with 2/8 in LAD, 1/8 in LCX and 5/8 in RCA, and those included 4 small aneurysms. The use of 64-slice MDCT angiography proved valuable for monitoring young children with Kawasaki disease. However, further study is necessary to specify the sensitivity and specificity of MDCT in the follow-up.

  11. Use of Lagrangian transport models and Sterilized High Volume Sampling to pinpoint the source region of Kawasaki disease and determine the etiologic agent

    Science.gov (United States)

    Curcoll Masanes, Roger; Rodó, Xavier; Anton, Jordi; Ballester, Joan; Jornet, Albert; Nofuentes, Manel; Sanchez-Manubens, Judith; Morguí, Josep-Anton

    2015-04-01

    Kawasaki disease (KD) is an acute, coronary artery vasculitis of young children, and still a medical mystery after more than 40 years. A former study [Rodó et al. 2011] demonstrated that certain patterns of winds in the troposphere above the earth's surface flowing from Asia were associated with the times of the annual peak in KD cases and with days having anomalously high numbers of KD patients. In a later study [Rodó et al. 2014], we used residence times from an Air Transport Model to pinpoint the source region for KD. Simulations were generated from locations spanning Japan from days with either high or low KD incidence. In order to cope with stationarity of synoptic situations, only trajectories for the winter months, when there is the maximum in KD cases, were considered. Trajectories traced back in time 10 days for each dataset and location were generated using the flexible particle Lagrangian dispersion model (FLEXPART Version 8.23 [Stohl et al. 2005]) run in backward mode. The particles modeled were air tracers, with 10,000 particles used on each model run. The model output used was residence time, with an output grid of 0.5° latitude × longitude and a time resolution of 3 h. The data input used for the FLEXPART model was gridded atmospheric wind velocity from the European Center for Medium-Range Weather Forecasts Re-Analysis (ERA-Interim at 1°). Aggregates of winter period back-trajectories were calculated for three different regions of Japan. A common source of wind air masses was located for periods with High Kawasaki disease. Knowing the trajectories of winds from the air transport models, a sampling methodology was developed in order to capture the possible etiological agent or other tracers that could have been released together. This methodology is based on the sterilized filtering of high volumes of the transported air at medium tropospheric levels by aircraft sampling and a later analyze these filters with adequate techniques. High purity

  12. Sarcoidosis Presenting Addison's Disease.

    Science.gov (United States)

    Takahashi, Kentaro; Kagami, Shin-Ichiro; Kawashima, Hirotoshi; Kashiwakuma, Daisuke; Suzuki, Yoshio; Iwamoto, Itsuo

    2016-01-01

    We herein describe a second Japanese case of sarcoidosis presenting Addison's disease. A 52-year-old man was diagnosed with sarcoidosis based on clinical and laboratory findings, including bilateral hilar lymphadenopathy and elevated levels of serum angiotensin-converting enzyme and lysozyme, as well as the presence of noncaseating epithelioid granulomas. The patient also exhibited general fatigue, pigmentation, weight loss, hypotension and hyponatremia, suggestive of chronic adrenocortical insufficiency. An endocrine examination confirmed primary adrenocortical insufficiency. This case suggests the direct involvement of sarcoid granuloma in the adrenal glands.

  13. Correlation of HAMP gene polymorphisms and expression with the susceptibility and length of hospital stays in Taiwanese children with Kawasaki disease

    Science.gov (United States)

    Lu, Hsing-Fang; Wong, Henry Sung-Ching; Yu, Hong-Ren; Kuo, Hsing-Chun; Huang, Fu-Chen; Lo, Mao-Hung; Hsieh, Kai-Sheng; Chen, Su-Fen; Chang, Wei-Chiao; Kuo, Ho-Chang

    2017-01-01

    Kawasaki disease (KD) is a form of systemic vasculitis. Regarding its pathogenesis, HAMP gene encoding hepcidin, which is significant for iron metabolism, has a vital function. In this study, we recruited a total of 381 KD patients for genotyping. Data from 997 subjects (500 subjects from cohort 1; 497 subjects from cohort 2) were used for analysis. Using TaqMan allelic discrimination, we determined five tag SNPs (rs916145, rs10421768, rs3817623, rs7251432, and rs2293689). Treatment outcome data related to such clinical phenotypes as coronary artery lesions (CAL), coronary artery aneurysms (CAA), and intravenous immunoglobulin (IVIG) effects were also collected. Furthermore, we measured plasma hepcidin levels with an enzyme-linked immunosorbent assay. We found that HAMP gene polymorphism (rs7251432, and rs2293689) was significantly correlated with KD risk and that plasma hepcidin levels both before and after IVIG treatment had a significantly positive correlation with length of hospital stays (R = 0.217, p = 0.046 and R = 0.381, p < 0.0001, respectively). In contrast, plasma hepcidin levels has a negative correlation with KD patients’ albumin levels (R = −0.27, p < 0.001) prior to IVIG treatment. This study's findings indicate that HAMP might have a role in the disease susceptibility, as well as its expressions correlated length of hospital stays, and albumin levels in Taiwanese children with KD. PMID:28881695

  14. CD8+ T Cells Contribute to the Development of Coronary Arteritis in the Lactobacillus casei Cell Wall Extract-Induced Murine Model of Kawasaki Disease.

    Science.gov (United States)

    Noval Rivas, Magali; Lee, Youngho; Wakita, Daiko; Chiba, Norika; Dagvadorj, Jargalsaikhan; Shimada, Kenichi; Chen, Shuang; Fishbein, Michael C; Lehman, Thomas J A; Crother, Timothy R; Arditi, Moshe

    2017-02-01

    Kawasaki disease (KD) is the leading cause of acquired heart disease among children in developed countries. Coronary lesions in KD in humans are characterized by an increased presence of infiltrating CD3+ T cells; however, the specific contributions of the different T cell subpopulations in coronary arteritis development remain unknown. Therefore, we sought to investigate the function of CD4+ and CD8+ T cells, Treg cells, and natural killer (NK) T cells in the pathogenesis of KD. We addressed the function of T cell subsets in KD development by using a well-established murine model of Lactobacillus casei cell wall extract (LCWE)-induced KD vasculitis. We determined which T cell subsets were required for development of KD vasculitis by using several knockout murine strains and depleting monoclonal antibodies. LCWE-injected mice developed coronary lesions characterized by the presence of inflammatory cell infiltrates. Frequently, this chronic inflammation resulted in complete occlusion of the coronary arteries due to luminal myofibroblast proliferation (LMP) as well as the development of coronary arteritis and aortitis. We found that CD8+ T cells, but not CD4+ T cells, NK T cells, or Treg cells, were required for development of KD vasculitis. The LCWE-induced murine model of KD vasculitis mimics many histologic features of the disease in humans, such as the presence of CD8+ T cells and LMP in coronary artery lesions as well as epicardial coronary arteritis. Moreover, CD8+ T cells functionally contribute to the development of KD vasculitis in this murine model. Therapeutic strategies targeting infiltrating CD8+ T cells might be useful in the management of KD in humans. © 2016, American College of Rheumatology.

  15. The effect of FcγRIIA and FcγRIIB on coronary artery lesion formation and intravenous immunoglobulin treatment responses in children with Kawasaki disease

    Science.gov (United States)

    Chang, Ling-Sai; Lo, Mao-Hung; Li, Sung-Chou; Yang, Ming-Yu; Hsieh, Kai-Sheng; Kuo, Ho-Chang

    2017-01-01

    Previous research has found patients with the FcγRIIIB NA1 variant having increased risk of intravenous immunoglobulin (IVIG) resistance in Kawasaki disease (KD). Our previous studies revealed that elevated FcγRIIA expression correlated with the susceptibility of KD patients. We conducted this research to determine whether and how Fcγ receptors affect the susceptibility, IVIG treatment response, and coronary artery lesions (CAL) of KD patients. The activating FcγRIIA and inhibitory FcγRIIB methylation levels of seven patients with KD and four control subjects were examined using HumanMethylation27 BeadChip. We enrolled a total of 44 KD patients and 10 control subjects with fevers. We performed real-time RT-PCR to determine the FcγRIIA and FcγRIIB expression levels, as well as a luciferase assay of FcγRIIA. We found a considerable increase in methylation of both FcγRIIA and FcγRIIB in KD patients undergoing IVIG treatment. Promoter methylation of FcγRIIA inhibited reporter activity in K562 cells using luciferase assay. The FcγRIIB mRNA expression levels were not found to increase susceptibility, CAL formation, or IVIG resistance. FcγRIIA mRNA expression levels were significantly higher in IVIG-resistant patients than in those that responded to IVIG during the pre-treatment period. Furthermore, the FcγRIIA/IIB mRNA expression ratio was considerably higher in KD patients with CAL than in those without CAL. FcγRIIA and FcγRIIB both demonstrated increased methylation levels in KD patients that underwent IVIG treatment. FcγRIIA expression influenced the IVIG treatment response of KD patients. The FcγRIIA/IIB mRNA expression ratio was greater in KD patients with CAL formation. PMID:27893416

  16. Pattern of subcutaneous fat during follow-up of a cohort of North Indian children with Kawasaki disease: a preliminary study.

    Science.gov (United States)

    Suthar, Renu; Singh, Surjit; Bhalla, Anil Kumar; Attri, Savita Verma

    2014-03-01

    Kawasaki disease (KD) has been associated with abnormal lipid profiles. The latter, in turn, have been linked to changes in subcutaneous fat. In this comparative cross-sectional study we have quantified distribution of subcutaneous fat during follow-up of a cohort of North Indian children with KD. We compared 35 KD children (at least 2 years after disease) and 33 healthy controls. Study parameters included weight, height and skinfold thickness (SFT) over biceps, triceps, midaxillary, subscapular, medial calf and suprailiac areas. Waist and hip circumferences were also recorded. All parameters were measured four times at 6-monthly intervals using standardized techniques. Serum lipids were assayed in the study group. Study children were enrolled 3.7 ± 2.5 years after KD and mean age at enrolment was 8.26 ± 3.65 years. Suprailiac SFT measured higher in boys with KD (P ≤ 0.05). Biceps SFT was higher in the study group, but the difference was not significant. Other SFT were not affected. Waist and hip circumference was higher in the study group than controls (P ≤ 0.05). Waist/hip circumference ratio was not affected. Serum low-density lipoprotein cholesterol (LDL-C) and triglycerides were higher in the study group as compared to historical controls (95.60 ± 36.12 and 129.40 ± 64.62 mg/dL vs. 80.10 ± 2.20 and 91.1 ± 29.85; P ≤ 0.05). Total cholesterol and high-density lipoprotein cholesterol levels remained unaffected. Children with KD (especially boys) had increased subcutaneous fat deposition in the suprailiac region and waist, during follow-up. Serum LDL-C and triglycerides were elevated. KD children may have a tendency to develop central obesity. Further studies, with longer follow-up, would be necessary to show whether this has implications for development of coronary artery disease later in life. © 2014 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

  17. Castleman's disease, an unusual presentation

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    Shital Munde

    2015-01-01

    The present report describes a 30-year-old serving male who presented with pain abdomen and on and off episodes ofmelena, found to have peripancreatic lymphadenopathy on CECT abdomen. Ultrasound guided FN AC was done in private hospital revealed reactive lymphadenopathy. Excision biopsy was done in our institute and a diagnosis of Castleman's disease was made.

  18. Atypical presentations of celiac disease

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    Balasa Adriana Luminita

    2016-08-01

    Full Text Available In this study we evaluated the association of celiac disease in 81 children with autoimmune disease and genetic syndromes over a two years periods (January 2014 to July 2016 in Pediatric Clinic in Constanta. Because the extraintestinal symptoms are an atypical presentation of celiac disease we determined in these children the presence of celiac disease antibodies: Anti-tissue Transglutaminase Antibody IgA and IgA total serum level as a screening method followeds in selective cases by Anti-tissue Transglutaminase Antibody IgG, anti-endomysial antibodies, deamidated gliadin antibodies IgA and IgG and intestinal biopsia. In our study 8 patients had been diagnosed with celiac disease with extraintestinal symptoms, of which 4 with type 1 diabetes, 1 patient with ataxia, 2 patients with dermatitis herpetiformis and 1 patient with Down syndrome that associate also autoimmune thyroiditis, alopecia areata, enamel hypoplasia.

  19. Amebiasis Presenting as Pleuropulmonary Disease

    OpenAIRE

    Kubitschek, Kenneth R.; Peters, Jay; Nickeson, David; Musher, Daniel M.

    1985-01-01

    Seven patients with amebic liver abscess presenting as pleuropulmonary disease were admitted to hospital initially because of pulmonary symptoms and were found to have amebic liver disease. Three categories of pleuropulmonary involvement included reactive inflammation of the pleura or lung, rupture of a hepatic abscess into the pleural space and rupture of a hepatic abscess into the bronchial airways. The preferred medical treatment is with metronidazole, but rupture of hepatic amebic abscess...

  20. Amebiasis Presenting as Pleuropulmonary Disease

    Science.gov (United States)

    Kubitschek, Kenneth R.; Peters, Jay; Nickeson, David; Musher, Daniel M.

    1985-01-01

    Seven patients with amebic liver abscess presenting as pleuropulmonary disease were admitted to hospital initially because of pulmonary symptoms and were found to have amebic liver disease. Three categories of pleuropulmonary involvement included reactive inflammation of the pleura or lung, rupture of a hepatic abscess into the pleural space and rupture of a hepatic abscess into the bronchial airways. The preferred medical treatment is with metronidazole, but rupture of hepatic amebic abscess into the pleural space requires drainage in addition to medical therapy. In contrast, rupture into the bronchus may provide spontaneous drainage so that only medical therapy is needed. Recovery from amebiasis in all three categories is generally complete. Morbidity and mortality increase with failure to correctly identify amebic infection of the liver as the underlying cause. Because, in new cases, no findings specifically suggest that pleuropulmonary disease is a complication of hepatic amebic abscess, this possibility needs to be considered, especially in persons who are at risk of having been infected with amebae. ImagesFigure 1.Figure 2. PMID:4013249

  1. Efficacy of iodine-123-15-(p-iodophenyl)-3-R,S-methylpentadecanoic acid single photon emission computed tomography imaging in detecting myocardial ischemia in children with Kawasaki disease

    International Nuclear Information System (INIS)

    Hoshina, Masaru; Shiraishi, Hirohiko; Igarashi, Hiroshi; Kikuchi, Yutaka; Ichihashi, Kou; Momoi, Mariko Y.

    2003-01-01

    To evaluate its efficacy in detecting myocardial ischemia in children, iodine-123-labeled 15-(p-iodophenyl)-3-R,S-methylpentadecanoic acid (BMIPP) myocardial single photon emission computed tomography (SPECT) imaging was performed in 16 pediatric patients with Kawasaki disease (KD, 11 male, 5 female; mean age and range: 13 years 8 months and 8 years 11 months to 17 years 7 months). Five children with chest pain and no cardiac disease were studied as controls (2 male, 3 female; mean age and range: 13 years 4 months and 9 years 4 months to 17 years 11 months). Selective coronary angiography was also performed in the 16 patients to evaluate the location of coronary stenosis and coronary aneurysms. The SPECT images were expressed as polar maps (Bull's eye maps) and the 'defect' area was defined as where the uptake of BMIPP was less than the standardized BMIPP images of the 5 control children. In the 16 patients, 33 segments had coronary aneurysms and 10 (10/33: 30.3%) had significant coronary stenosis on selective coronary angiography. Nine of the 10 (90%) segments with significant coronary stenosis showed a defect on the BMIPP image whereas only 6 of the 23 (26.1%) segments without coronary stenosis showed a defect on BMIPP imaging. The sensitivity of BMIPP SPECT imaging for detection of coronary stenosis was 90% (9/10) and its specificity was 73.9% (17/23), whereas the sensitivity of 201 Tl SPECT imaging was 80% (8/10) and its specificity was 60% (14/23). There was no significant difference between the BMIPP and 201 Tl SPECT images in either the sensitivity or specificity for the detection of coronary stenosis. In the present series, only one case had discordant BMIPP uptake (BMIPP uptake 201 Tl uptake) in which there was a large coronary aneurysm and re-canalization after complete obstruction at segment 1 of the right coronary artery. This discordant BMIPP uptake reflects the possibility of ischemic but viable myocardium after re-canalization of a large aneurysm in

  2. Enfermedad de kawasaki: A propósito de un caso

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    Raquel Fernández Ferrán

    2000-09-01

    Full Text Available Se presenta una paciente de 2 meses de edad con los síntomas y signos de la enfermedad de Kawasaki. Se descartan mediante los exámenes complementarios otras enfermedades más comunes en la infancia. Se hace una revisión de la enfermedad y se señala la importancia del diagnóstico y tratamiento precoces. A pesar de la corta edad de la niña ésta no presentó afectación de las arterias coronarias. Su evolución fue favorable, y se observó mejoría (caída de la temperatura a menos de 38 C a partir del 4to. día después de comenzar el tratamiento. Se utilizó el esquema de dosis única de gammaglobulina asociada con los salicilatos.A two-months old female patient with symptoms and signs of Kawasaki disease is presented in this paper. Supplementary tests disregarded the presence of other common diseases in early childhood. The disease is reviewed, pointing out the importance of early diagnosis and treatment. Despite her small age, the girls did not have any lesion in coronary arteries. A recovery was observed (temperature fell below 38 C on the 4th day after beginning of the treatment. The single dosage of gammaglobulin scheme associated to salicylates was used.

  3. Addison's disease presenting with perimyocarditis.

    Science.gov (United States)

    Baranski Lamback, Elisa; Morandi, Grazia; Rapti, Eleni; Christov, Georgi; Brogan, Paul A; Hindmarsh, Peter

    2018-01-26

    Polyglandular autoimmune syndrome (PGA) and eosinophilic granulomatosis with polyangiitis (EGPA) do not seem to represent a coincidental association. A case of a 15-year-old boy is reported who presented with severe systemic inflammation, perimyocarditis and cardiogenic shock, in whom EGPA was initially suspected and later diagnosed with autoimmune adrenalitis with PGA. The severity of the systemic inflammation and perimyocarditis suggests a more widespread autoimmune-mediated process. Autoimmune adrenal insufficiency should be considered in all cases of pericarditis and perimyocarditis, especially when the severity of clinical manifestations exceeds the expected for the severity of the cardiac findings, as timely identification and prompt treatment may be life-saving.

  4. Intracranial Castleman's disease presenting as hypopituitarism

    International Nuclear Information System (INIS)

    Ribeiro, L.T.; Simao, G.N.; Matos, A.L.M.; Santos, Antonio Carlos; Carlotti, C.G. Jr.; Colli, B.O.; Neder, L.; Ribeiro-Silva, A.; Castro, M. de; Rego, E.

    2004-01-01

    Castleman's disease is an atypical lymphoproliferative disorder that may present as a localized or multicentric form. The involvement of the central nervous system is rare. We describe here a case of Castleman's disease with involvement of the hypothalamus and meninges, presenting as hypopituitarism. Radiological and clinical pathological features are emphasized and a review of the literature is presented. (orig.)

  5. Clinical presentation of adult coeliac disease.

    LENUS (Irish Health Repository)

    Tajuddin, T

    2012-02-01

    The mode of presentation of coeliac disease has been changing to more atypical or silent disease. Few studies described the clinical presentation of adult coeliac disease in Ireland in recent years. We retrospectively collected the clinical data for all patients who had a diagnosis of coeliac disease made in our centre between January 07 and December 08. Forty seven adults, predominantly females (n = 30), had a confirmed diagnosis of coeliac disease made during the study period. In our patient cohort, the presenting symptom was diarrhoea in 19 (40%) patients, while 16 patients (34%) did not have any G.I. symptoms, 10 (21%) presented with anaemia. Females presented at a significantly younger age compared to males, with median ages at diagnosis of 44.5 and 57 years, respectively (p = 0.04). Females also presented more commonly with non G.I. symptoms (p = 0.07). The reasons behind this gender difference need further study.

  6. Behaviors of chemical elements in the atmosphere, Kawasaki, Japan

    International Nuclear Information System (INIS)

    Oda, K.; Kikawada, Y.; Oi, T.

    2008-01-01

    A total of 19 elements in the samples of atmospheric deposition collected in Kawasaki, Japan, were determined by neutron activation analysis, ICPAES and flame photometry. The amounts of soil dust depositions were larger in springs and those of Sb and Zn depositions were larger in summers than in the other seasons. The values of the enrichment factors were higher for Sb and Zn than for the other elements determined throughout the sampling period. A factor analysis showed that the two elements were characterized as industrial components. Rubber products like tires that contain noncombustibles and rubber accelerators were a possible origin of high concentrations of Sb and Zn in the present samples. (author)

  7. Clinical presentation of juvenile Huntington disease

    Directory of Open Access Journals (Sweden)

    Ruocco Heloísa H.

    2006-01-01

    Full Text Available OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001 and reduced cerebral and cerebellum volumes (p=0.01. CONCLUSION: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.

  8. Celiac Disease Presenting with Immune Thrombocytopenic Purpura

    Directory of Open Access Journals (Sweden)

    Hakan Sarbay

    2017-01-01

    Full Text Available Celiac disease (CD is an immunological disorder. Clinical manifestations occur as a result of intestinal mucosa damage and malabsorption. CD is also associated with extraintestinal manifestations and autoimmune disorders. The coexistence of CD and autoimmune diseases has been described before. In this article, a patient with CD presenting with thrombocytopenia is discussed.

  9. Huntington's disease presenting as amyotrophic lateral sclerosis.

    LENUS (Irish Health Repository)

    Phukan, Julie

    2010-08-01

    We present the clinical, electrophysiological and molecular genetic findings of a 58-year-old male with genetically confirmed Huntington\\'s disease (HD) and concurrent clinically definite ALS by El Escorial criteria. The patient presented with asymmetric upper limb amyotrophy and weakness, and subsequently developed chorea and cognitive change. Genetic testing confirmed the presence of expanded trinucleotide repeats in huntingtin, consistent with a diagnosis of Huntington\\'s disease. This case confirms the rare coexistence of Huntington\\'s disease and motor neuron degeneration.

  10. Menkes Disease Presenting with Epilepsia Partialis Continua

    Directory of Open Access Journals (Sweden)

    Tamer Rizk

    2014-01-01

    Full Text Available Aim. We aim to describe a female patient with Menkes disease who presented with epilepsia partialis continua. Case Presentation. Seventeen-months-old Saudi infant was presented with repetitive seizures and was diagnosed to have epilepsia partialis continua. Discussion. Menkes disease (OMIM: 309400 is considered a rare, X-linked recessive neurodegenerative disorder resulting from a mutation in the gene coding for the copper transporting ATPase (ATP7A. Affected individuals usually present with kinky hair, skeletal changes, prolonged jaundice, hypothermia, developmental regression, decreased tone, spasticity, weakness, and therapy resistant seizures. Conclusion. Raising awareness of abnormal presentation of this rare disease may help in the control of seizures through subcutaneous copper supplementation.

  11. Gaucher disease: haematological presentations and complications.

    Science.gov (United States)

    Thomas, Alison S; Mehta, Atul; Hughes, Derralynn A

    2014-05-01

    Gaucher disease (GD) is an autosomal recessive lysosomal storage disease, caused by deficiency of the enzyme glucocerebrosidase, required for the degradation of glycosphingolipids. Clinical manifestations include hepatosplenomegaly, thrombocytopenia, bone disease and a bleeding diathesis, frequently resulting in presentation to haematologists. Historically managed by splenectomy, transfusions and orthopaedic surgery, the development of specific therapy in the form of intravenous enzyme replacement therapy in the 1990s has resulted in dramatic improvements in haematological and visceral disease. Recognition of complications, including multiple myeloma and Parkinson disease, has challenged the traditional macrophage-centric view of the pathophysiology of this disorder. The pathways by which enzyme deficiency results in the clinical manifestations of this disorder are poorly understood; altered inflammatory cytokine profiles, bioactive sphingolipid derivatives and alterations in the bone marrow microenvironment have been implicated. Further elucidating these pathways will serve to advance our understanding not only of GD, but of associated disorders. © 2014 John Wiley & Sons Ltd.

  12. [Addison's disease: forms of presentation in paediatrics].

    Science.gov (United States)

    Royo Gómez, M; Olmos Jiménez, M J; Rodríguez Arnao, M D; Roldán Martín, M B

    2013-06-01

    Addison's disease or primary adrenal insufficiency is a rare disease in children. The signs and symptoms at diagnosis are frequently non-specific and insidious. Since adrenal crisis represents an emergency, it is important to be aware and to have a high degree of suspicion of the disorder in order to achieve an early diagnosis and treatment. We present a retrospective study describing the epidemiological, clinical and etiological data at diagnosis of five patients with Addison's disease followed up in our hospital. Dehydration, hyponatremia and skin hyperpigmentation were the most prevalent signs and symptoms at onset of the disease. The patients had low serum cortisol levels and positive adrenal antibodies. One patient with negative antibodies presented with a polyglandular syndrome. Copyright © 2012 Asociación Española de Pediatría. Published by Elsevier España, S.L. All rights reserved.

  13. [Venous thromboembolic disease: presentation of a case].

    Science.gov (United States)

    Mirpuri-Mirpuri, P G; Álvarez-Cordovés, M M; Pérez-Monje, A

    2013-01-01

    Venous thromboembolic disease in its clinical spectrum includes both deep vein thrombosis and pulmonary thromboembolism, which is usually a complication of deep vein thrombosis. It is a relatively common disease with significant morbidity and requires an accurate diagnosis. They are numerous risk factors for venous thromboembolism, and there is evidence that the risk of thromboembolic disease increases proportionally to the number of predisposing risk factors present. The primary care physician should know the risk factors and suspect the presence of venous thromboembolic disease when there is a compatible clnical picture. The treatment for this pathology is anticoagulation. We report a patient with cardiovascular risk factors who was seen with pain in the right leg and shortness of breath and referred to the hospital with suspected venous thromboembolism, atrial fibrillation and pleural effusion. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  14. Morgellons Disease Presenting As an Eyelid Lesion.

    Science.gov (United States)

    Sandhu, Rasanamar K; Steele, Eric A

    2016-01-01

    Morgellons disease is characterized by complaints of uncomfortable skin sensations and fibers emanating from nonhealing skin lesions. Morgellons disease is well-known in the dermatology and psychiatry literature, where it is typically considered a subtype of delusional parasitosis, but it has not yet been described in the ophthalmology literature. A patient with self-reported Morgellons disease is presented, who was referred for evaluation of left lower eyelid ectropion. She reported that her skin was infested with fibers that were "trying to get down into the eyelid." On examination, she had ectropion of the left lower eyelid, broken cilia, and an ulcerated left upper eyelid lesion concerning for carcinoma. Biopsy of the lesion was consistent with excoriation. Treatment of her ectropion was deferred out of concern for wound dehiscence, given the patient's aggressive excoriation behavior. This case is presented to make the ophthalmologist aware of this disorder and to highlight the appropriate clinical management.

  15. Addison's disease presenting with muscle spasm.

    Science.gov (United States)

    Bhattacharjee, Rana; Sharma, A; Rays, A; Thakur, I; Sarkar, D; Mandal, B; Mookerjee, S K; Chatterjee, S K; Chowdhury, Pradip Roy

    2013-09-01

    Primary hypoadrenalism has various causes and protean manifestation. We report a young female patient who presented with severe muscle spasm as her primary complaint. On evaluation she was found to be a case of Addison's disease secondary to adrenal tuberculosis. Her muscle spasm disappeared rapidly with replacement dose of glucocorticoid.

  16. Castleman Disease Presenting as an Abdominal Mass.

    Science.gov (United States)

    Shariati, Farnaz; Verter, Elizabeth; Chang, Wendy; Huang, Li; Joshi, Virendra

    2017-01-01

    Unicentric Castleman disease is a rare condition of lymphoid hyperplasia, of which only 15% of cases occur in the abdomen. We report a 66-year-old man who presented with complaints of abdominal pain. Computed tomography scans revealed nephrolithiasis and a homogeneous calcified mass between the pancreas and stomach and several para-pancreatic nodes. Direct visualization during exploratory laparotomy revealed a mass on the lesser curvature of the stomach. Pyloromyotomy and mass resection were performed. Biopsy showed reactive lymphoid hyperplasia consistent with the hyaline vascular variant of Castleman disease.

  17. Crohn's disease in adolescence: presentation and treatment.

    Science.gov (United States)

    Cullen, Mick; Barnes, Claire

    2015-05-13

    Crohn's disease is a chronic inflammatory bowel condition that affects more than 115,000 people in the UK. This article focuses on Crohn's disease in adolescents. Management of the condition in this group should address adolescent-specific characteristics and treatment goals. Key elements include optimising growth, pubertal development and social functioning, including education. The condition can affect an individual's mental and emotional wellbeing significantly, as well as their physical health. As adolescence is a time of great change, the additional burden of a chronic illness can prove difficult to manage. The authors provide information on the presentation of Crohn's disease in adolescence and insights into the particular issues encountered by this group.

  18. Ebola virus disease: past, present and future

    Directory of Open Access Journals (Sweden)

    Harish Rajak

    2015-05-01

    Full Text Available Ebola virus disease is one of the most deadly ailments known to mankind due to its high mortality rate (up to 90% accompanying with the disease. Ebola haemorrhagic fever (EHF is an infectious disease of animal that can be transmitted to both human and non-human primates. The first epidemic of EHF occurred in 1976 in the Democratic Republic of the Congo. The incubation period of ebola is less than 21 days. Ebola virus infections are depicted by immune suppression and a systemic inflammatory response that leads to damage of the vascular, coagulation and immune systems, causing multi-organ failure and shock. Five genetically distinct members of the Filoviridae family responsible for EHF are as follows: Zaire ebolavirus, Sudan ebolavirus, Côte d’Ivoire ebolavirus, Bundibugyo ebolavirus and Reston ebolavirus. The ongoing 2014 West Africa ebola epidemic has been considered as the most serious panic in the medical field with respect to both the number of human cases and death toll. The natural host for ebola virus is unknown, thus it is not possible to carry out programs to regulate or abolish virus from transmission to people. The ebola virus infection provides little chance to develop acquired immunity causing rapid progression of the disease. It is pertinent to mention that at present, there is no antiviral therapy or vaccine that is helpful against ebola virus infection in humans. The impediment of EHF necessitates much better understanding of the epidemiology of the disease, particularly the role of wildlife, as well as bats, in the spread of ebola virus to humans.

  19. A Rare Clinical Presentation of Darier's Disease

    Science.gov (United States)

    Ferizi, Mybera; Begolli-Gerqari, Antigona; Luzar, Bostjan; Kurshumliu, Fisnik; Ferizi, Mergita

    2013-01-01

    Darier's disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions are presented as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains”. This paper reports a case of a 53-year-old woman that was admitted to our clinic with more than 10-year history of keratotic papules, presented on the hands and feet, nose, ears, genitalia, and whitish lesions on palatal mucosae. PMID:23573430

  20. Primary brain lymphoma presenting as Parkinson's disease

    International Nuclear Information System (INIS)

    Sanchez-Guerra, M.; Leno, C.; Berciano, J.; Cerezal, L.; Diez, C.; Figols, J.

    2001-01-01

    Neoplasm is an uncommon cause of a parkinsonian syndrome. We report a woman with primary brain B-cell lymphoma presenting as Parkinson's disease. After 1 year of the illness, CT and MRI showed lesions without mass effect in the basal ganglia and corpus callosum. The patient did not respond to levodopa and right cerebellar and brain-stem signs appeared, which prompted further neuroimaging, showing an increase in size of the lesions and a right cerebellar and pontine mass. Stereotactic biopsy of the basal ganglia showed high-grade B-cell lymphoma. Despite the basal ganglia frequently being involved in lymphoma of the brain, presentation with typical or atypical parkinsonism is exceptional. (orig.)

  1. Endosonographic Changes, present in the Hirschprung disease

    International Nuclear Information System (INIS)

    Fogel, Roberto; Poleo, Jose; Bonilla, Idalys; Frontera de Fogel, Juana

    2002-01-01

    Until now, echoendoscopy has been described by exploring the anal sphincter, perirectal space, evaluating the quality of the muscular tissue, the anorectal walls, the perirectal space and the genital organs, as well as their usefulness in defining sub-epithelial lesions of the rectum and vascular invasion in the stadium of carcinomas. The main interest in this article is the exploration of the thickness and echogenicity of the rectosygmoid wall in Hirschprung's disease. Two cases of Hirschprung's disease were presented. One 68-year-old patient presented with chronic constipation in which barium radiology showed fecal impaction and rectosygmoidal dilation. Ultrasonic endoscopy showed a reduction in ecolayer 4 as compared with the rest of the layers. Subsequently, a second pediatric six year old patient with constipation in whom radiology and 15 MHz ultrasound echocatheter endoscopy showed that the greatest increase measured 2 mm, as opposed to the other echolayers which measured double that figure. It was concluded that, in patients with clinically and radiological suspected Hirschprung's, USE may be carried out and thus demonstrate the reduction in echolayer 4. It is necessary to increase the number of cases and compare them with a control group to verify these findings

  2. GRAFT VERSUS HOST DISEASE- ORAL PRESENTATION

    Directory of Open Access Journals (Sweden)

    Pradeep P. S

    2017-09-01

    Full Text Available BACKGROUND Graft-versus-host disease (GVHD is described as a potentially life-threatening complication caused by allogeneic haematopoietic cell transplantation. It is an exaggerated manifestation of a normal inflammatory mechanism in which donor lymphocytes encounter foreign antigens in an atmosphere that promote inflammation. 90% of the patients show oral features in case of cGVHD. Oral mucosal lesions and salivary gland dysfunction are the main oral features of chronic GVHD. Trismus or reduction of the mouth opening due to the perioral deposition of collagen is also commonly seen. Purpose of this review is to understand pathophysiology of oral presentations of GVHD. MATERIALS AND METHODS Review related to GVHD pathophysiology, oral lesions after haematopoietic cell transplant encompassed literature from 1966 through 2015. Review of Medline/PubMed Journals were done. RESULTS It is difficult to describe the pathophysiology of oral manifestations because there is no well accepted definition. CONCLUSION Larger well-designed clinical studies are needed to understand the pathobiology of oral cGVHD and determine best treatments for this disease.

  3. Atypical presentation of sickle cell disease

    Directory of Open Access Journals (Sweden)

    Md. Abdul Aziz

    2017-02-01

    Full Text Available A 20 year old female presented with a history of frequent syncopal attack since her childhood. Each episode persisted 5-10 min without having any aggravating factor or prodrome. She had persistent generalized bodyache aggravating during the winter. She had jaundice and episodic abdominal pain. She received 1 unit of blood transfusion 4 months back and improved sympto-matically. Patient was mildly anemic, moderately icteric and had mild splenomegaly. Over these long periods of her illness she was thoroughly evaluated several times. Her biochemical and neurological evaluation revealed no abnormalities. But she was treated with anticonvulsant for long time empirically without significant improvement. Her CBC showed microcytic hypochromic anemia. She was negative for Wilson’s disease. Reticulocyte count was high. Coomb’s test was negative. Osmotic fragility test was positive. Hemoglobin electrophoresis revealed Hb-S 60%. Sickling test was found positive. Finally it was diagnosed as a case of HbS/β+.

  4. Paediatric Inflammatory Bowel Disease: Clinical Presentation and Disease Location.

    Science.gov (United States)

    Aziz, Danish Abdul; Moin, Maryum; Majeed, Atif; Sadiq, Kamran; Biloo, Abdul Gaffar

    2017-01-01

    To determine different clinical presentationsand disease location demarcatedby upper and lower gastrointestinal endoscopyand relevant histopathologyin children diagnosed with inflammatory bowel disease (IBD). This is 5 years (2010 to 2015) retrospective studyconducted at the Aga Khan University Hospitalenrolling65admitted children between 6 months to 15years from either gender, diagnosed with IBD on clinical presentation, endoscopy and biopsy. Different clinical presentations at the time of diagnosis were noted in different categories of the disease. All patients underwent upper and lower (up to the terminal ileum) endoscopy with multiple punch biopsies and histologic assessment of mucosal specimens. All endoscopies were done by paediatric gastroenterologists at endoscopy suite of the hospital and all specimens were reported by the pathology department. ESPGHAN revised criteria for the diagnosis of inflammatory bowel disease in children and an adolescent was used to standardize our diagnosis. Extent of disease on endoscopy and relevant histopathology of the biopsy samples were noted at the time of diagnosis. Data was summarized using mean, standard deviation, numbers and percentages for different variables. Total 56 children were enrolled according to inclusion criteria. There were 34children (61.53%) diagnosed with ulcerative colitis (UC), 10 patients (16.92%) had Crohn'sDisease (CD) and 11 (21.53%) patients were labeled as Indeterminate colitis (IC). Mean age at onset of symptoms was10.03±2.44 and mean age at diagnosis was11.10±2.36. Abdominal pain (80%) and chronic diarrhea (70%) were common symptoms in CD whereas bloody diarrhea (79.41%) and rectal bleeding(64.70%)were common presentation in UC. Patients diagnosed with indeterminate colitis(IC) had similar clinical features as in UC patients. Only 7% patients had some extra-intestinal features in the form of joint pain and/or uveitis. Aspartate aminotransferase level (95.18 ±12.89) was relatively high in

  5. Oral considerations of Kawasaki syndrome : a case report

    OpenAIRE

    Figueiredo, Márcia Cançado; Pires, Patrícia Duarte Simões; Silva, Daniel Demétrio Faustino da; Ouriques, Maurício Cernicchiaro; Squef, Rocío

    2010-01-01

    El objetivo del presente estudio es presentar un caso clínico y revisar la literatura existente sobre el Síndrome de Kawasaki (SK) tan frecuente en pacientes con necesidades especiales. Las características clínicas de esta patología se observan ya en niños muy jóvenes, en la gran mayoría de los casos menores de 5 años de edad. Esta es una patología que puede llevar al óbito, pues revela un compromiso cardíaco importante. Hay señales y síntomas en la cavidad oral en la fase aguda de la enferme...

  6. Uncommon Presentation Of Bowen′s Disease

    Directory of Open Access Journals (Sweden)

    Dawn Goutam

    1995-01-01

    Full Text Available Bowen’s disease is desired as persistent, progressive, non- elevated, red scarry or crusted plaque, which is due to an intraepidermal carcinoma and is potentially malignant. Sunlight is considered as an important aetiological factor. In the past; arsenic exposure was also said to be important 1. The curaneous lesion of Bowen’s disease can sometimes be hyperkeratotic or fissured 2. Morphology can vary depending on site of involvement.

  7. Lifting of a sector block for YE-2 at Kawasaki.

    CERN Multimedia

    R. Loveless/U. of Wisconsin

    2000-01-01

    YE-2 is build from machined sector blocks. Trial assembly is carried out horizontally. This picture represents the lifting of a machined sector block destined to the trial assembly of a half disk YE-2 at Kawasaki (KHI) Kobe, Japan.

  8. Quantitative assessment of urban and industrial symbiosis in Kawasaki, Japan.

    Science.gov (United States)

    Van Berkel, Rene; Fujita, Tsuyoshi; Hashimoto, Shizuka; Fujii, Minoru

    2009-03-01

    Colocated firms can achieve environmental benefit and competitive advantage from exchanging physical resources (known as industrial symbiosis) with each other or with residential areas (referenced here as urban symbiosis). Past research illustrated that economic and environmental benefits appear self-evident, although detailed quantification has only been attempted of symbioses for energy and water utilities. This article provides a complimentary case studyfor Kawasaki, Japan. The 14 documented symbioses connect steel, cement, chemical, and paperfirms and their spin-off recycling businesses. Seven key material exchanges divert annually at least 565 000 tons of waste from incineration or landfill. Four of these collectively present an estimated economic opportunity of 13.3 billion JPY (approximately 130 million USD) annually. Five symbioses involve utilization of byproduct and two sharing of utilities. The others are traditional or new recycling industries that do not specifically benefit from geographic proximity. The synergistic effect of urban and industrial symbiosis is unique. The legislative framework for a recycling-oriented society has contributed to realization of the symbioses, as has the availability of government subsidies through the Eco-Town program.

  9. Perinatal-lethal Gaucher disease presenting as hydrops fetalis.

    Science.gov (United States)

    BenHamida, Emira; Ayadi, Imene; Ouertani, Ines; Chammem, Maroua; Bezzine, Ahlem; BenTmime, Riadh; Attia, Leila; Mrad, Ridha; Marrakchi, Zahra

    2015-01-01

    Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis and arthrogryposis. We report a case of Gaucher's disease (type 2) diagnosed in a newborn who presented with Hydrops Fetalis.

  10. Realizing CO2 emission reduction through industrial symbiosis: A cement production case study for Kawasaki

    OpenAIRE

    Hashimoto, Shizuka; Fujita, Tsuyoshi; Geng, Yong; Nagasawa, Emiri

    2010-01-01

    This article is one effort to examine the present and potential performances of CO2 emission reduction though industrial symbiosis by employing a case study approach and life cycle CO2 analysis for alternative industrial symbiosis scenarios. As one of the first and the best-known eco-town projects, Kawasaki Eco-town was chosen as a case study area. First, the current industrial symbiosis practices in this area are introduced. To evaluate the potential of reducing the total CO2 emission throug...

  11. Kimura's disease: A case presentation of postauricular swelling ...

    African Journals Online (AJOL)

    Kimura's disease: A case presentation of postauricular swelling. A Rajesh, T Prasanth, V.C. Naga Sirisha, M.D.S. Azmi. Abstract. Kimura's disease (KD) is a rare chronic inflammatory disease of subcutaneous tissues and occurs predominantly in head and neck region. It is seen primarily in young Asian males. Typical clinical ...

  12. Advanced sickle cell associated interstitial lung disease presenting ...

    African Journals Online (AJOL)

    Previous studies have reported abnormal pulmonary function and pulmonary hypertension among Nigerians with sickle cell disease, but there is no report of interstitial lung disease among them. We report a Nigerian sickle cell patient who presented with computed tomography proven interstitial lung disease complicated by ...

  13. Kawasaki dynamics with two types of particles : critical droplets

    NARCIS (Netherlands)

    Hollander, den W.Th.F.; Nardi, F.R.; Troiani, A.

    2012-01-01

    This is the third in a series of three papers in which we study a two-dimensional lattice gas consisting of two types of particles subject to Kawasaki dynamics at low temperature in a large finite box with an open boundary. Each pair of particles occupying neighboring sites has a negative binding

  14. Kawasaki dynamics with two types of particles : critical droplets

    NARCIS (Netherlands)

    Hollander, den W.Th.F.; Nardi, F.R.; Troiani, A.

    2012-01-01

    This is the third in a series of three papers in which we study a two-dimensional lattice gas consisting of two types of particles subject to Kawasaki dynamics at low temperature in a large ¿nite box with an open boundary. Each pair of particles occupying neighboring sites has a negative binding

  15. [Development of the community mental health system and activities of the community mental health team in Kawasaki City].

    Science.gov (United States)

    Ito, Masato

    2012-01-01

    Since the 1960s, Kawasaki City has been leading the nation in its efforts regarding community mental health practices. Public institutions such as the Psychiatric Rehabilitation Center in the central area of the city and the Mental Health and Welfare Center in the southern area have mainly developed the psychiatric rehabilitation system. However, since 2000, new mental health needs have emerged, as the target of mental health and welfare services has been diversified to include people with developmental disorders, higher brain dysfunction, or social withdrawal, in addition to those with schizophrenia. Therefore, Kawasaki City's plan for community-based rehabilitation was drawn up, which makes professional support available for individuals with physical, intellectual, and mental disabilities. As the plan was being implemented, in 2008, the Northern Community Rehabilitation Center was established by both the public and private sectors in partnership. After the community mental health teams were assigned to both southern and northern areas of the city, the community partnership has been developed not only for individual support but also for other objectives that required the partnership. Takeshima pointed out that the local community should be inclusive of the psychiatric care in the final stage of community mental health care in Japan. Because of the major policies regarding people with disabilities, the final stage has been reached in the northern area of Kawasaki City. This also leads to improvement in measures for major issues in psychiatry, such as suicide prevention and intervention in psychiatric disease at an early stage.

  16. Present state of beech bark disease in Germany

    Science.gov (United States)

    Klaus J. Lang

    1983-01-01

    Beech bark disease can be found at present time in young and old stands (20-150 years old) of Fagus sylvatica. The present state of the disease may be described as "normal" and apart from some cases, it is no threat to the existence of the stands.

  17. Haemorrhage - the main presenting feature of diverticular disease of ...

    African Journals Online (AJOL)

    Haemqrrhage is one of the less common presentations of diverticular disease. This retrospective 5 year study of 23 patients has identified it as the main presentation (74%) among South African blacks in whom the disease is uncommon, but emerging as a clinical problem. Women constituted a statistically significant ...

  18. Psychomotor delay, a possible rare presentation of moyamoya disease

    International Nuclear Information System (INIS)

    Ashrafi, M. R.; Alizadeh, H.; Yazdani, Sh.; Mohseni, M.; Mohamadi, M.

    2011-01-01

    Moyamoya disease is a rare, chronic cerebrovascular occlusive disease of unknown etiology. It is characterized by progressive stenosis of the arteries of the circle of Willis leading to ischemic strokes in young people and cerebral hemorrhage, which is more frequent in adults. Secondarily, an abnormal network of fine collateral vessels arises at the base of the brain. The term moyamoya refers to the angiographic appearance of the cerebral vasculature. We present such a disease in an 18-month-old Iranian girl with global developmental delay, which is a very rare presentation of moyamoya disease. She was diagnosed by magnetic resonance imaging and magnetic resonance angiography.

  19. Celiac Disease Presenting as Fever of Unknown Origin

    Directory of Open Access Journals (Sweden)

    Megan J. Cooney

    2013-01-01

    Full Text Available Celiac disease (CD is a common autoimmune enteropathy that occurs, in affected individuals, with exposure to gluten in the diet and improves with removal of dietary gluten. Although CD is readily considered in patients with classical presentations of the disease, atypical manifestations may be the only presenting symptoms. We present a case of CD in a 16-year-old female presenting as fever of unknown origin, which has not been reported previously. The postulated mechanism for fever in CD and the importance of clinicians having a low threshold for considering CD in the differential diagnosis of fever of unknown origin and other enigmatic clinical presentations is discussed.

  20. Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease

    NARCIS (Netherlands)

    Siddiqui, Sophia; Anderson, Victoria L.; Hilligoss, Diane M.; Abinun, Mario; Kuijpers, Taco W.; Masur, Henry; Witebsky, Frank G.; Shea, Yvonne R.; Gallin, John I.; Malech, Henry L.; Holland, Steven M.

    2007-01-01

    BACKGROUND: Chronic granulomatous disease (CGD) is associated with multiple and recurrent infections. In patients with CGD, invasive pulmonary infection with Aspergillus species remains the greatest cause of mortality and is typically insidious in onset. Acute fulminant presentations of fungal

  1. CASE REPORT : GRAVE'S DISEASE PRESENTING AS PARANOID SCHIZOPHRENIA

    OpenAIRE

    Singh, S.K.; Hatwal, A.; Agarwal, J.K.; Bajpai, H.S.; Sharma, I.

    1989-01-01

    SUMMARY The case of a 37 year old male is described who initially presented as paranoid schizophrenia unresponsive to anti-psychotic drug treatment and subsequently developed features of Grave's disease. Treatment with carbimazole alone improved his psychiatric symptoms.

  2. Addison's disease as a presentation of metastatic malignant melanoma.

    Science.gov (United States)

    Srinivasan, B; Patel, M; Ethunandan, M; Ilankovan, V

    2016-01-01

    Melanoma accounts for 5% of all skin cancers. The risk of metastasis is related to the thickness of the tumour, and can affect local, regional and distant sites. Adrenal metastasis from melanoma of the head and neck is uncommon and often asymptomatic. Addison's disease as a presentation of metastatic melanoma is extremely rare and we are unaware of previous reports in the world literature. We report a case of a patient with metastatic melanoma presenting with signs and symptoms of Addison's disease.

  3. Lipoma arborescens: Comparison of typical and atypical disease presentations

    International Nuclear Information System (INIS)

    Howe, B.M.; Wenger, D.E.

    2013-01-01

    Aim: To determine whether the aetiology differed between typical cases of lipoma arborescens with unilateral knee involvement and atypical cases involving joints other than the knee, polyarticular disease, and disease outside of the knee joint. Materials and methods: Cases of lipoma arborescens involving the knee joint were evaluated for the distribution of the disease and severity of degenerative arthritis. Joints other than the knee were evaluated for the presence and severity of degenerative arthritis, and the distribution was classified as either intra-articular, extra-articular, or both. Clinical history was reviewed for patient age at presentation, a history of inflammatory arthritis, diabetes mellitus, and known steroid use. Fisher's exact test was used to determine whether there was a statistically significant difference between typical and atypical presentations of the disease. Results: Lipoma arborescens was identified in 45 joints in 39 patients. Twenty-eight patients were classified as “typical” and 11 patients had “atypical” disease. There was no significant difference in age at presentation, presence of degenerative arthritis, or known inflammatory arthritis when comparing typical and atypical presentations of the disease. Conclusion: Twenty-eight percent of patients in the present study had atypical presentation of lipoma arborescens with multifocal lipoma arborescens or disease in joints other than the knee. There was no significant difference in age at presentation, presence of degenerative arthritis, or known inflammatory arthritis when comparing typical and atypical presentations of the disease. Of the 39 patients, only three had no evidence of degenerative arthritis, which suggests that many cases of lipoma arborescens are secondary to chronic reactive change in association with degenerative arthritis

  4. Celiac disease presenting as rickets in Saudi children.

    Science.gov (United States)

    Assiri, Asaad; Saeed, Anjum; AlSarkhy, Ahmed; El Mouzan, Mohammed Issa; El Matary, Wael

    2013-01-01

    Rickets is commonly seen as a sign of malabsorption like celiac disease if it is not treated appropriately with vitamin D and calcium supplements. The aim of this study was to examine the frequency of diagnosis of celiac disease among children with unexplained rickets in Saudi children at a tertiary hospital setting. Retrospective review of records of patients referred over 10 years to a pediatric gastroenterology and hepatology unit. The study included all patients referred for evaluation of unexplained rickets and osteomalacia and screened for celiac disease. The diagnosis of rickets was made on the basis of history, physical examination, biochemical and radiological investigations. The diagnosis of celiac disease was made based on the ESPGHAN (European Society for Pediatric Gastroenterology, Hepatology, and Nutrition) criteria. Twenty-six children with a mean (SD) age of 9.5 (4.6) years (5 males, range 1-15 years) were referred for evaluation of unexplained rickets and were screened for celiac disease. The diagnosis of celiac disease based on small bowel biopsy findings was confirmed in 10 (38.4%) patients with rickets. Serological markers for celiac disease including antiendomyseal antibodies and antitissue transglutaminase antibodies were positive in all ten children. Rickets is not an uncommon presentation of celiac disease in Saudi children and pediatricians should consider celiac disease as an underlying cause for rickets.

  5. Immunoglobulin G4-related disease: a rare disease with an unusual presentation.

    Science.gov (United States)

    Khan, Muhammad Waqas; Hadley, Terrance; Kesler, Melissa; Gul, Zartash

    2016-07-01

    IgG4-RD can also present in the skeletal muscle, mimicking several other diseases. It is unusual for this relatively new classification of diseases to present in the muscles and can be mistakenly diagnosed as other autoimmune diseases rendering a delay in the appropriate management and progression of the disease.

  6. Technical features of steel structure construction by Kawasaki Steel; Kawasaki Seitetsu no kokozo gijutsu no tokucho

    Energy Technology Data Exchange (ETDEWEB)

    Kaneko, T.; Urata, I.; Okata, S. [Kawasaki Steel Corp., Tokyo (Japan)

    1996-03-01

    In the steel structure technology of Kawasaki Steel, the joint technique (e.g., welding) is added to them while developing or improving the products that meet the social needs as a material supplier. Moreover, the execution technique that manufactures materials or constructs them as an integrated structure, the structural analysis that conforms to the function and application of a structure, and the design technique on dynamic properties or durability such as earthquake resistance, fatigue, and corrosion resistance are synthetically expanded for engineering. In this paper, a building steel frame, non-residence building, bridge, and harbor structure as steel structure in the building and construction fields were described for each structure genre. The structural technology of a building steel frame is summarized to the products of pillar materials. An earthquake brace, using a dead soft steel, with high earthquake energy absorption capability and a damping wall were also developed. The design and execution technique of a large roof was systematized. The exchange technique of a road bridge RC floor and the technique of an unstiffened suspension bridge for pipeline were developed. A new technique was also developed for a suspension monorail track and offshore structure. 30 refs., 5 figs.

  7. Primary Testicular Carcinoid Tumor presenting as Carcinoid Heart Disease

    Directory of Open Access Journals (Sweden)

    Manjunath L Chikkaraddi

    2015-01-01

    Full Text Available Primary carcinoid tumors of the testis are very rare, and they seldom present with carcinoid syndrome. We report a hereto unreported instance, where a patient with a long-standing testicular mass presented with carcinoid heart disease, an uncommon form of carcinoid syndrome. He presented with symptoms of right heart failure, episodic facial flushing and was found to have severe right-sided valvular heart disease. His urinary 5-hydroxy indole acetic acid level was elevated. He underwent orchidectomy and the histopathology confirmed a testicular carcinoid tumor.

  8. Graves' disease presenting as pseudotumor cerebri: a case report

    Directory of Open Access Journals (Sweden)

    Freitas Cláudia

    2011-02-01

    Full Text Available Abstract Introduction Pseudotumor cerebri is an entity characterized by elevated intracranial pressure with normal cerebrospinal fluid and no structural abnormalities detected on brain MRI scans. Common secondary causes include endocrine pathologies. Hyperthyroidism is very rarely associated and only three case reports have been published so far. Case presentation We report the case of a 31-year-old Luso-African woman with clinical symptoms and laboratory confirmation of Graves' disease that presented as pseudotumor cerebri. Conclusion This is a rare form of presentation of Graves' disease and a rare cause of pseudotumor cerebri. It should be remembered that hyperthyroidism is a potential cause of pseudotumor cerebri.

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

    African Journals Online (AJOL)

    Objective: To characterize the clinical features and pattern of presentation of breast diseases as observed in our practice. Materials and Methods: A prospective study of 121 consecutive patients with breast complaints presenting in our Surgical Outpatient Clinics. The relevant data were collected by two surgeons using the ...

  10. Gaucher disease. Unusual presentation and mini-review.

    Science.gov (United States)

    Rizk, Tamer M; Ariganjoye, Rafiu O; Alsaeed, Gihad I

    2015-07-01

    We aim to describe an 8-year-old boy with an unusual clinical presentation of Gaucher disease (GD). Gaucher disease is a progressive lysosomal storage disorder due to deficiency of the specific enzyme glucocerebrosidase with varying clinical features, but often involving the monocytes-macrophages systems. This child ran a progressive course with a devastating outcome. Three distinct GD subtypes have been described with varying clinical features based on the presence or absence of neurologic involvement. Gaucher disease diagnosis is obtained via: enzyme activity assay, gene mutation study, bone marrow aspiration in addition to multiple other tests that have been successfully used in diagnosis of cases of GD. Treatment modalities include enzyme replacement treatment, substrate reduction therapy, bone marrow transplantation, blood transfusion, and surgery are available management modalities for GD. Gaucher disease is a chronic disease requiring a multidisciplinary team approach with regular follow up with multiple subspecialties.

  11. Genetics of Congenital Heart Disease: Past and Present.

    Science.gov (United States)

    Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

    2017-04-01

    Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

  12. Sternoclavicular Arthritis as a Clinical Presentation for Lyme Disease.

    Science.gov (United States)

    Ramgopal, Sriram; Rosenkranz, Margalit; Nowalk, Andrew J; Zuckerbraun, Noel S

    2018-04-01

    Lyme disease is caused by Borrelia burgdorferi and can lead to dermatologic, neurologic, cardiac, and musculoskeletal manifestations. The arthritis of Lyme disease is typically monoarticular, with the knee being most commonly involved. Lyme arthritis of small joints has not previously been well described. We report 3 children who presented with sternoclavicular joint swelling and who were found to have Lyme disease based on enzyme-linked immunosorbent assay and Western blot. This description of sternoclavicular Lyme arthritis highlights the importance of considering Lyme disease in the differential and diagnostic workup of new onset, small joint arthritis in patients presenting from or with travel to Lyme endemic regions. Copyright © 2018 by the American Academy of Pediatrics.

  13. Concomitant Graves' disease and Hashimoto's thyroiditis, presenting as primary hypothyroidism.

    LENUS (Irish Health Repository)

    Cronin, C C

    2012-02-03

    Hypothyroidism in patients with Graves\\' disease is usually the result of ablative treatment. We describe a 58 year old man with Graves\\' ophthalmopathy and pre-tibial myxoedema, who presented with spontaneous primary hypothyroidism. Circulating TSH receptor antibody activity was increased, while thyroid microsomal antibody was detectable in titres greater than one in one hundred thousand. It is likely that the TSH receptor antibody of Graves\\' disease was ineffective in stimulating hyperthyroidism because of concomitant thyroid destruction due to Hashimoto\\'s disease. Alternatively, primary hypothyroidism could have resulted from the effects of a circulating TSH receptor blocking antibody.

  14. Presentation of moyamoya disease with occipital hemorrhage: a case report

    Directory of Open Access Journals (Sweden)

    Serkan Demir

    2012-12-01

    Full Text Available Moyamoya disease is a cerebrovascular disease which is characterized with stenosis and occlusions at the distal part of internal carotid artery and at the proximal part of anterior and middle cerebral arteries. It rarely causes temporary or recurrent hemiparesis due to intracranial hemorrhage while symptoms like headache, convulsion, nystagmus, aphasia and ataxia may also occur. In this paper, we present a case of Moyamoya disease which was diagnosed with a 23 year old female patient who was admitted to our emergency department with headache, nausea and vomiting complaints and whose radiological findings showed occipital lobe hemorrhage.

  15. Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation

    Directory of Open Access Journals (Sweden)

    K. Selthofer-Relatic

    2018-01-01

    Full Text Available Background. Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a that it is a multiorgan disease with wide variety of phenotypes, (b different timelines of presentation, (c gender differences, and (d possible coexistence with other comorbidities. Late-onset/cardiac type of presentation with minimal involvement of other organs can additionally make diagnosis difficult. Aim. To describe different cardiac manifestations at different time points in the course of the disease: (1 72-year-old female (echocardiography detection, heterozygote, significant left and mild right ventricular hypertrophy; (2 62-year-old male (echocardiography detection, hemizygote, left ventricular hypertrophy, implanted cardiac pacemaker, a performed percutaneous coronary intervention after myocardial infarction, degenerative medium degree aortic valve stenosis; (3 45-year-old female (asymptomatic/family screening, heterozygote, thickened mitral papillary muscle, mild left ventricular hypertrophy, first degree diastolic dysfunction; and (4 75-year-old female (symptomatic/family screening, heterozygote, cardiomyopathy with reduced left ventricular ejection fraction after heart surgery (mitral valve annuloplasty and plastic repair of the tricuspid valve. Conclusion. All patients have Anderson-Fabry disease but with different clinical presentations depending on the gender, the type of mutation, and the time of detection. All these features can make the patients’ profiles unique and delay the time of detection.

  16. Pretibial myxedema without ophthalmopathy: an initial presentation of Graves' disease.

    Science.gov (United States)

    Lohiya, Sheela; Lohiya, Vipin; Stahl, Elizabeth J

    2013-07-01

    To report a rare case of Graves' disease without ophthalmopathy presenting with pretibial myxedema (PM) as an initial presentation. We present the clinical history, physical findings, laboratory studies and biopsy data of a 62-year-old man with a history of uncontrolled type 2 diabetes (DM2) presenting with arm and leg skin lesions in the absence of other physical findings. Histopathology confirmed PM. Graves' disease and its association with PM without Graves' ophthalmopathy and the pertinent literature are reviewed. A 60-year-old man with a history of uncontrolled DM2 presented for glycemic management. He described symptoms of anxiety, insomnia and fatigue for the last 5 to 6 months. He described diffuse chest pain, occasionally associated with palpitations, and a 50-pound weight loss. He also complained of severe itching and burning of his arms and legs for the past several months. Subsequent thyroid studies revealed hyperthyroidism suggestive of Graves' disease. In the interim, he was hospitalized for atrial flutter and was cardioverted. After being started on methimazole, his symptoms abated. His skin lesions were biopsied, and the leg biopsy was consistent with PM. He however had no lid lag or proptosis characteristic of Graves' disease. He subsequently underwent radioiodine ablation. His hyperglycemia was better control led after treatment of his hyperthyroidism. PM is an autoimmune manifestation of Graves' disease. Almost all cases of thyroid dermopathy are associated with relatively severe ophthalmopathy. Usually ophthalmopathy appears first and dermopathy much later. However, this case represents a rare initial presentation of Graves' disease with PM without ophthalmologic symptoms or findings. Hyperthyroidism is typically associated with worsening glycemic control and increased insulin requirements. In patients with diabetes having hyperthyroidism, deterioration in glycemic control should be anticipated and treatment should be adjusted accordingly

  17. An Unusual Presentation of Addison's Disease-A Case Report.

    Science.gov (United States)

    Choudhary, Sandeep; Alam, Anwer; Dewan, Vivek; Yadav, Dinesh; Dubey, N K

    2011-07-01

    Addison's disease is most commonly due to autoimmune adrenalitis and tuberculosis and refers to primary hypoadrenalism caused by a total or near total destruction or dysfunction of both adrenal cortices. Usual manifestations involve chronic fatigue, muscle weakness, loss of appetite, nausea, vomiting, diarrhea, hypotension and hyperpigmentation of skin. We herein report a case of primary adrenal insufficiency presenting with fever and seizures in an 11-yr-old boy. His symptoms resolved after starting specific therapy. This kind of presentation of Addison's disease is rather unusual.

  18. Clinical presentation of late haemorrhagic disease of newborn

    International Nuclear Information System (INIS)

    Majeed, R.; Memon, Y.; Majeed, F.

    2008-01-01

    To observe the clinical presentation of late haemorrhagic disease of the newborn (LHDNB), and clinical improvement after the administration of vitamin K/sub 1/. This is a prospective descriptive study. All the children older than seven days who presented with bleeding were admitted in pediatrics ward of Isra University Hyderabad from April 2006 to April 2007 were included. Data collection was done by means of detailed proforma. Analysis was done on SPSS version 11. Thirty five cases were included. Commonest site of bleeding was subcutaneous followed by oral and injection site. Mean age of late haemorrhagic disease of newborn was 109 days and minimum age of presentation was 28 days. Common clinical presentations were irritability, convulsions, poor reflexes and poor feeding. Mostly recovery was within 24 hours after vit K. Late HDN results in severe hemorrhage especially hemorrhage in the central nervous system. Administration of Vitamin K (1mg, 1M) at birth can present these severe complications. (author)

  19. Hickam's dictum: Myasthenia Gravis presenting concurrently with Graves' disease.

    Science.gov (United States)

    Sehgal, Shekhar; Rebello, Roshan; Wolmarans, Louise; Elston, Marianne

    2017-09-07

    We present two patients with Graves' disease and concurrent myasthenia gravis. The impact of the dual diagnosis on the clinical course and the potential for a delayed diagnosis of myasthenia gravis is discussed. Patient 1, a 28-year-old man was diagnosed with Graves' disease following his second respiratory arrest. His history was strongly suggestive of a second pathology. Patient 2, a 66-year-old Cantonese woman with established Graves' disease presented with thionamide-related neutropaenia. Examination revealed bilateral ptosis and right lateral rectus palsy. Both patients had thyrotoxicosis secondary to Graves' disease with concurrent myasthenia gravis. Although neuromuscular weakness is common in Graves' disease, coexisting myasthenia gravis (MG) is rare and can cause profound morbidity. Ocular signs in both diseases may cause diagnostic confusion although ptosis suggests coexisting MG. In both cases, the thyrotoxicosis delayed the diagnosis of MG. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  20. REVIEW OF CELIAC DISEASE PRESENTATION IN A PEDIATRIC TERTIARY CENTRE.

    Science.gov (United States)

    Oliveira, Gracinda Nogueira; Mohan, Rajiv; Fagbemi, Andrew

    2018-01-01

    Celiac disease is an immune-mediated disorder with a multiform presentation and therefore a challenging diagnosis. Our purpose is to identify the epidemiological, clinical, laboratory and histologic characteristics of children with celiac disease at diagnosis and on follow-up. Children with previously established or newly diagnosed celiac disease, admitted in a tertiary centre in a two-year period (2014-2016) were recruited. Data was collected retrospectively from electronic medical records and clinical notes, and subsequently analysed with SPSS version 20.0. A total of 159 patients, out of 312, were included. Age ranged from 1 to 17 years (mean ± SD: 8.5±4.5 years, 69% girls). Disease presentation was classical in 60%, non-classical in 25%, subclinical in 10% and 5% classified as potential celiac disease. Non-classical and subclinical profiles had a higher mean age at presentation but not statistically significant (P-value 0.24). The most frequent gastrointestinal features at presentation were abdominal pain (58%), diarrhea (43%) and bloating (27%). A positive family history for celiac disease was present in 24% (n=35). We found anaemia in 23%, low ferritin in 63% and a moderate to severe deficiency of 25-hydroxyvitamin D in 62%. celiac disease -specific serologic testing and esophagogastroduodenoscopy were performed in 99%. Histology revealed modified Marsh 2 or 3 enteropathy in 94%, the remaining had normal histology but positive human leukocyte antigen typing. Clinical improvement at 12 months of gluten-free diet was complete in 51% and partial in 49%. IgA tTG normalized after 12-30 months of gluten-free diet in 45%. On growth assessment at diagnosis and after 12-28 months of gluten-free diet, 100% had height increase (mean ±SD: 7.11±4.43 cm) and 96% weight gain (mean ±SD: 5.60±4.91 kg). Our findings outline the diverse clinical presentations of pediatric celiac disease that should be considered irrespective of age. Increased clinician's awareness will

  1. Clinical presentation and mutations in Danish patients with Wilson disease

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49¿500. Among routinely used diagnostic tests, none were...

  2. Clinical presentation and mutations in Danish patients with Wilson disease

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49 500. Among routinely used diagnostic tests, none were...

  3. Epidemiology and introduction to the clinical presentation of Wilson disease.

    Science.gov (United States)

    Lo, Christine; Bandmann, Oliver

    2017-01-01

    Our understanding of the epidemiology of Wilson disease has steadily grown since Sternlieb and Scheinberg's first prevalence estimate of 5 per million individuals in 1968. Increasingly sophisticated genetic techniques have led to revised genetic prevalence estimates of 142 per million. Various population isolates exist where the prevalence of Wilson disease is higher still, the highest being 885 per million from within the mountainous region of Rucar in Romania. In Sardinia, where the prevalence of Wilson disease has been calculated at 370 per million births, six mutations account for around 85% of Wilson disease chromosomes identified. Significant variation in the patterns of presentation may however exist, even between individuals carrying the same mutations. At either extremes of presentation are an 8-month-old infant with abnormal liver function tests and individuals diagnosed in their eighth decade of life. Three main patterns of presentation have been recognized - hepatic, neurologic, and psychiatric - prompting their presentation to a diverse range of specialists. Deviations in the family history from the anticipated autosomal-recessive mode of inheritance, with apparent "pseudodominance" and mechanisms of inheritance that include uniparental isodisomy (the inheritance of both chromosomal copies from a single parent), may all further cloud the diagnosis. It can therefore take the efforts of an astute clinician with a high clinical index of suspicion to clinch the diagnosis of this eminently treatable condition. © 2017 Elsevier B.V. All rights reserved.

  4. Turner′s syndrome presenting as metabolic bone disease

    Directory of Open Access Journals (Sweden)

    Sadishkumar Kamalanathan

    2012-01-01

    Full Text Available Turner′s syndrome is a genetic disorder with a complete or partial absence of one X chromosome with characteristic phenotypic features. The prevalence of renal anomalies in turner syndrome is 30-40%. However, the renal function is usually normal. We report a case of Turner′s syndrome presenting with chronic kidney disease and renal osteodystrophy.

  5. CASE REPORT : GRAVE'S DISEASE PRESENTING AS PARANOID SCHIZOPHRENIA

    Science.gov (United States)

    Singh, S.K.; Hatwal, A.; Agarwal, J.K.; Bajpai, H.S.; Sharma, I.

    1989-01-01

    SUMMARY The case of a 37 year old male is described who initially presented as paranoid schizophrenia unresponsive to anti-psychotic drug treatment and subsequently developed features of Grave's disease. Treatment with carbimazole alone improved his psychiatric symptoms. PMID:21927380

  6. Linear Darier's disease: A case with bilateral presentation

    Directory of Open Access Journals (Sweden)

    Anal Jyoti Bordoloi

    2015-01-01

    Full Text Available Darier's disease is an autosomal dominant genodermatosis characterized by a persistent eruption of hyperkeratotic greasy papules mainly over the seborrheic sites of the body, usually associated with nail abnormalities and sometimes with mucous membrane lesions. The lesions typically occur in the younger age group and are associated with pruritus. We report here an atypical case of Linear Darier's disease with bilateral presentation in a middle-aged adult that could be confused with conditions such as lichen planus, inflammatory linear verrucous epidermal nevus, and wart.

  7. Hiccup: An Extremely Rare Presentation of Thyrotoxicosis of Graves’ Disease

    Directory of Open Access Journals (Sweden)

    Irshad Parray

    2011-03-01

    Full Text Available Persistent hiccup is a rare but potentially severe condition that can be symptomatic of a variety of diseases or idiopathic. Most episodes last only a few minutes and are self-limited, but hiccup can get persistent and become a real problem for physician and patient alike. The center of hiccup may be activated by a great variety of stimuli travelling along different nerve pathways and bring different effecter responses. We report a case of persistent hiccup as a presentation of impending thyroid storm of Graves’ disease. Though the condition is rare, clinicians should remain alert to the possibility of this diagnosis.

  8. Pin Worms Presenting as Suspected Crohn’s Disease

    Science.gov (United States)

    Al-Saffar, Farah; Najjar, Nimeh; Ibrahim, Saif; Clark, Matthew

    2015-01-01

    Patient: Female, 24 Final Diagnosis: Pinworms infection Symptoms: Abdominal pain • bloating Medication: — Clinical Procedure: Colonoscopy and biopsy Specialty: Gastroenterology and Hepatology Objective: Rare disease Background: Inflammatory bowel disease (IBD) is well recognized in developed countries and is generally among the differential diagnoses of young patients presenting with refractory diarrhea once other more common etiologies have been excluded. Pinworm infections, on the other hand, are not as common among adults in the United States. Case Report: Based on computed tomography features, a 24-year-old female patient with a history of multiple autoimmune disorders presented with abdominal pain and was diagnosed recently with Crohn’s disease. Colonoscopy was significant for pinworms seen throughout the colon. Colonic biopsy was negative for inflammatory bowel disease (IBD)-related changes. Conclusions: The diagnosis of IBD is a serious label that requires biopsy confirmation before committing to possibly lifelong treatment and possible adverse effects. Even in the most typical patient and when the presentation and imaging are classical, uncommon conditions (like Enterobius infection in this case) may preclude appropriate diagnosis and management. PMID:26471462

  9. Behcet’s Disease: Presented with Genital Ulcer

    Directory of Open Access Journals (Sweden)

    Sayma Afroz

    2015-09-01

    Full Text Available Behcet’s disease which can affect almost every organ system of the body and is diagnosed mainly clinically is a rare condition. The presence of certain clinical features, elimination of other possible causes of patient’s symptoms and if possible proof of vasculitis by biopsy of an involved tissue supports a diagnosis. We report a young female presented with 7-day history of vulval ulcer and erythema nodosum. Diagnosis was made according to International Study Group criteria for Behcet’s disease and histological findings. She was treated with corticosteroid, colchicine and dapsone which caused significant clinical improvement. We report this case to increase awareness among physicians on Behcet’s disease to improve its management.

  10. Mild thrombocytopenia as presenting symptom of type 1 Gauchers's disease.

    Science.gov (United States)

    Müzes, G; Pitlik, E; Somogyi, A; Tulassay, Z

    2001-06-01

    A young woman was examined for a mild thrombocytopenia which was present for some months. No signs of bleeding had so far occurred. Physical examination was normal except for a moderately enlarged spleen. Laboratory investigations showed a low platelet count. There was no evidence of an autoimmune or hematologic disease. Bone narrow aspirate indicated Gaucher's-like cells raising the suspicion of Gaucher's disease. This was further supported by electron microscopic demonstration of Gaucher's bodies in crista biopsy specimens. However, the definitive diagnosis was obtained by verifying deficient lysosomal glucosylceramide-beta-D-glucosidase activity in peripheral blood leukocytes. Upon the absence of neurologic involvement the patient was typical for the adult-onset or type 1 form of Gaucher's disease.

  11. Leprae reaction resembling rheumatologic disease as presenting feature of leprosy.

    Science.gov (United States)

    Baharuddin, Hazlyna; Taib, Tarita; Zain, Mollyza Mohd; Ch'ng, Shereen

    2016-10-01

    Leprosy is a chronic granulomatous infection caused by Mycobacterium leprae with predominant involvement of skin and nerves. We present a 70-year-old man with leprosy whose initial presentation resembled rheumatologic disease, due to leprae reaction. He presented with an 8-week history of worsening neuropathic pain in the right forearm, associated with necrotic skin lesions on his fingers that had ulcerated. Physical examination revealed two tender necrotic ulcers at the tip of the right middle finger and the dorsal aspect of the left middle finger. The patient had right wrist tenosynovitis and right elbow bursitis. Apart from raised inflammatory markers, the investigations for infection, connective tissue disease, vasculitis, thromboembolic disease and malignancy were negative. During the fourth week of hospitalization, we noticed a 2-cm hypoesthetic indurated plaque on the right inner arm. Further examination revealed thickened bilateral ulnar, radial and popliteal nerves. A slit skin smear was negative. Two skin biopsies and a biopsy of the olecranon bursa revealed granulomatous inflammation. He was diagnosed with paucibacillary leprosy with neuritis. He responded well to multidrug therapy and prednisolone; his symptoms resolved over a few weeks. This case illustrates the challenges in diagnosing a case of leprosy with atypical presentation in a non-endemic country. © 2016 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.

  12. Genetics of Common Endocrine Disease: The Present and the Future.

    Science.gov (United States)

    Goodarzi, Mark O

    2016-03-01

    In honor of the 75th issue of the Journal of Clinical Endocrinology and Metabolism, the author was invited to present his perspectives on genetics in human endocrinology. This paper reviews what the field has achieved in the genetics of common endocrine disease, and offers predictions on where the field will move in the future and its impact on endocrine clinical practice. The October 2015 data release of the National Human Genome Research Institute-European Bioinformatics Institute (NHGRI-EBI) Catalog of Published Genome-wide Association Studies was queried regarding endocrinologic diseases and traits. PubMed searches were focused on genetic prediction of disease, genetic findings and drug targets, functional interrogation of genetic loci, use of genetics to subtype disease, missing heritability, systems genomics, and higher order chromatin structures as regulators of gene function. Nearly a quarter of genome wide association study findings concern endocrinologic diseases and traits. While these findings have not yet dramatically altered clinical care, genetics will have a major impact by providing the drug targets of tomorrow, facilitated by experimental and bioinformatic advances that will shorten the time from gene discovery to drug development. Use of genetic findings to subtype common endocrine disease will allow more precise prevention and treatment efforts. Future advances will allow us to move away from the common view of DNA as a string of letters, allowing exploration of higher order structure that likely explains much "missing heritability." The future will see a greater role of genetics at the bedside, with genetic epidemiologic discoveries leading not only to new treatments of endocrine disease, but also helping us prescribe the right drug to the right patients by allowing subclassification of common heterogeneous endocrine conditions. Future technological breakthroughs will reveal the heritable mysteries hidden in chromatin structure, leading to a

  13. Metabolic Modulators in Heart Disease: Past, Present, and Future.

    Science.gov (United States)

    Lopaschuk, Gary D

    2017-07-01

    Ischemic heart disease and heart failure are leading causes of mortality and morbidity worldwide. They continue to be major burden on health care systems throughout the world, despite major advances made over the past 40 years in developing new therapeutic approaches to treat these debilitating diseases. A potential therapeutic approach that has been underutilized in treating ischemic heart disease and heart failure is "metabolic modulation." Major alterations in myocardial energy substrate metabolism occur in ischemic heart disease and heart failure, and are associated with an energy deficit in the heart. A metabolic shift from mitochondrial oxidative metabolism to glycolysis, as well as an uncoupling between glycolysis and glucose oxidation, plays a crucial role in the development of cardiac inefficiency (oxygen consumed per work performed) and functional impairment in ischemic heart disease as well as in heart failure. This has led to the concept that optimizing energy substrate use with metabolic modulators can be a potentially promising approach to decrease the severity of ischemic heart disease and heart failure, primarily by improving cardiac efficiency. Two approaches for metabolic modulator therapy are to stimulate myocardial glucose oxidation and/or inhibit fatty acid oxidation. In this review, the past, present, and future of metabolic modulators as an approach to optimizing myocardial energy substrate metabolism and treating ischemic heart disease and heart failure are discussed. This includes a discussion of pharmacological interventions that target enzymes involved in fatty acid uptake, fatty acid oxidation, and glucose oxidation in the heart, as well as enzymes involved in ketone and branched chain amino acid catabolism in the heart. Copyright © 2017 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  14. A Rare Presentation of a Rare Disease: Pulmonary Lymphomatoid Granulomatosis

    Directory of Open Access Journals (Sweden)

    Ghulam Rehman Mohyuddin

    2012-01-01

    Full Text Available A 70-year-old female presented with a 4-week history of dry cough and wheezing. Chest radiograph showed a 10.5 cm mass-like density in the anterior mediastinum which had not been previously visualized. Computed tomography scan (CT of the chest showed a right hilar mass encasing and narrowing right upper lobe bronchus and right mainstem bronchus and secondary atelectatic changes. Biopsy was consistent with a diagnosis of lymphomatoid granulomatosis Grade 3. She responded well clinically and radiologically to therapy. Lymphomatoid granulomatosis is a rare EBV-associated disorder which is considered a lymphoproliferative disease. The most common radiographic feature is multiple lung nodules. An isolated hilar mass is an exceptionally rare presentation of this rare disease.

  15. Generalised pruritus as a presentation of Grave’s disease

    Directory of Open Access Journals (Sweden)

    Tan CE

    2013-05-01

    Full Text Available Pruritus is a lesser known symptom of hyperthyroidism, particularly in autoimmune thyroid disorders. This is a case report of a 27-year-old woman who presented with generalised pruritus at a primary care clinic. Incidental findings of tachycardia and a goiter led to the investigations of her thyroid status. The thyroid function test revealed elevated serum free T4 and suppressed thyroid stimulating hormone levels. The anti-thyroid antibodies were positive. She was diagnosed with Graves’ disease and treated with carbimazole until her symptoms subsided. Graves’ disease should be considered as an underlying cause for patients presenting with pruritus. A thorough history and complete physical examination are crucial in making an accurate diagnosis. Underlying causes must be determined before treating the symptoms.

  16. Generalised pruritus as a presentation of Grave's disease.

    Science.gov (United States)

    Tan, Ce; Loh, Ky

    2013-01-01

    Pruritus is a lesser known symptom of hyperthyroidism, particularly in autoimmune thyroid disorders. This is a case report of a 27-year-old woman who presented with generalised pruritus at a primary care clinic. Incidental findings of tachycardia and a goiter led to the investigations of her thyroid status. The thyroid function test revealed elevated serum free T4 and suppressed thyroid stimulating hormone levels. The anti-thyroid antibodies were positive. She was diagnosed with Graves' disease and treated with carbimazole until her symptoms subsided. Graves' disease should be considered as an underlying cause for patients presenting with pruritus. A thorough history and complete physical examination are crucial in making an accurate diagnosis. Underlying causes must be determined before treating the symptoms.

  17. Graves' disease presenting as pyrexia of unknown origin.

    OpenAIRE

    Shaked, Y.; Samra, Y.; Zwas, S. T.

    1988-01-01

    Fever is a common clinical manifestation of inflammatory processes of the thyroid and thyroid crisis. On the other hand, fever alone as a presenting symptom of thyrotoxicosis, without other manifestations, is extremely rare. A female patient is described in whom fever persisted for two months prior to hospitalization, but without clinical symptoms or signs to lead to suspicion of thyroid disease. After exhaustive investigation it was found that the patient was suffering from hyperthyroidism. ...

  18. Pseudo-osteomyelitic crisis upon presentation of Gaucher disease

    International Nuclear Information System (INIS)

    Weisstein, J.S.; Steinbach, L.S.; Diamond, C.A.; Huang, S.J.; O'Donnell, R.J.

    2001-01-01

    We report on a 4-year-old boy adopted from Paraguay who presented with an acute onset of thigh pain. Initial clinical, imaging, and histopathologic findings suggested florid osteomyelitis. However, the development of pancytopenia on intravenous antibiotics prompted further investigation and the ultimate diagnosis of Gaucher disease. In retrospect, characteristic changes on conventional radiographic and MR images, as well as growth of a contaminant organism, pointed to the diagnosis of pseudo-osteomyelitis rather than osteomyelitis. (orig.)

  19. A Rare Clinical Presentation of Darier’s Disease

    OpenAIRE

    Ferizi, Mybera; Begolli-Gerqari, Antigona; Luzar, Bostjan; Kurshumliu, Fisnik; Ferizi, Mergita

    2013-01-01

    Darier’s disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomat...

  20. Coeliac disease in children presenting with failure to thrive.

    Science.gov (United States)

    Ikram, Muhammad Asim; Sajid, Aisha; Hameed, Sadia; Arshad, Kashan; Irshad-ul-Haq

    2011-01-01

    Coeliac disease used to be considered as a disease of European and Western population but now it has emerged as a global problem. Objective of this study was to evaluate the frequency and mode of presentation of coeliac disease in children presenting with failure to thrive. This cross-sectional descriptive study was conducted at Paediatrics Department of Madina Teaching Hospital in collaboration with Histopathology Department of University Medical and Dental College, Faisalabad over a period from April 2010 to March 2011. A total of 60 children, aged 4-6 years presenting as failure to thrive according to their height and weight, were included. Relevant investigations were done along with radiological assessment of bone age. The jejunal biopsy was taken in all the patients. Children who were suffering from primary or secondary malnutrition due to other chronic illnesses and malabsorptive syndromes were excluded from the study. The data was analysed using SPSS-17. Chi-square test was used and p failure to thrive, unexplained anaemia, rickets, abdominal distension and abdominal pain.

  1. Motor neurone disease presenting with raised serum Troponin T.

    Science.gov (United States)

    Mamo, Jonathan P

    2015-05-01

    Myocardial damage indicated by a rise in cardiac Troponin may not necessarily be due to a cardiac event. Many diseases such as sepsis, pulmonary embolism, heart and renal failure can also be associated with an elevated cardiac Troponin level. This brief report discusses the rare event of a patient with motor neurone disease, where the possible diagnosis of acute myocardial infarction arose due to an elevated cardiac Troponin. A 69-year-old gentleman presented with a history of a central chest ache of mild intensity, lasting a total of 2 h prior to complete resolution. Multiple cardiac Troponin assays were elevated, and echocardiography did not show any acute changes of myocardial damage. His electrocardiogram was also normal. This patient's raised cardiac Troponin was therefore explained on the basis of his active motor neurone disease. This rare case outlines the importance of considering motor neurone disease as a cause of elevated cardiac Troponin in the absence of clinical evidence of an acute coronary event. © The Author(s) 2015 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  2. PENGARUH KELOMPOK REFERENSI TERHADAP KEPUTUSAN PEMBELIAN KAWASAKI NINJA 250 CC

    OpenAIRE

    Kartika WB, Sylvia; Sidig, Rosyid

    2018-01-01

    The purpose of this study is to examine the affect of reference groups  on purchasing decision of  Kawasaki Ninja 250 cc in the city of Jambi. Size of sample consist of 100 unit that chousen randomly. While data analysis used  multiple regression analysis. The results showed that simultaneouly   normative, value expression, and  informative have significant role. But, based on partiall test  normative has no significant affect. Hence,  reference group h...

  3. A Case Report of Cushing's Disease Presenting as Hair Loss.

    Science.gov (United States)

    Lefkowitz, Emily G; Cossman, Jack P; Fournier, John B

    2017-01-01

    Cushing's syndrome is a rare endocrine disorder that comprises a large group of signs and symptoms resulting from chronic exposure to excess corticosteroids. Most cases of Cushing's syndrome are due to increased adrenocorticotropic hormone production from a pituitary adenoma, which is referred to as Cushing's disease. Most of the signs and symptoms are nonspecific and common in the general population, making a diagnosis often challenging. However, several dermatological manifestations, such as fragile skin, easy bruising, and reddish purple striae, are more discriminatory. Because uncontrolled Cushing's syndrome of any etiology is associated with substantial morbidity, including increased cardiovascular disease and mortality, it is important to make an early diagnosis. Unfortunately, median delays of 2 years to diagnosis have been reported. We report a case of a woman who had multiple dermatological findings, including facial plethora, easy bruising, violaceous striae, hirsutism, and acne, the latter 2 signs reflecting androgen excess. Of interest, our patient presented with a chief complaint of hair loss, a common complaint in the general population that occurs with a greater frequency in patients with Cushing's disease and is attributed to androgenetic alopecia, but it is rarely the presenting symptom.

  4. Diarrheal Versus Non-diarrheal Presentations Of Paediatric Celiac Disease

    International Nuclear Information System (INIS)

    Hashmi, M.A.; Hussain, T.; Masood, N.; Asghar, R.M.

    2016-01-01

    Objective: To compare the frequencies and clinical features of diarrheal versus non-diarrheal presentation of celiac disease (CD). Study Design: Cross-sectional study. Place and Duration of Study: Paediatric Department, Benazir Bhutto Hospital, Rawalpindi, from January to December 2013. Methodology: Children with celiac disease, newly diagnosed on the basis of tissue transglutaminasel (TTG) and intestinal histopathology, were included in the study by consecutive non-probability sampling. Patients were divided into diarrheal and non-diarrheal groups on the basis of presence or absence of chronic or recurrent diarrhea. Comparison between two groups was done and a p-value < 0.05 was considered significant. Results: Total patients were 54 (26 males, 28 females) with mean age of 6.67 ±3.35 years. Chronic diarrhea was present in 31 (57.4 percent) and absent in 23 (42.6 percent). Patients in non-diarrheal group were diagnosed at a significantly later age (p=0.038) and had a greater frequency of severe malnutrition (p=0.02). Short stature, anemia, rickets, clubbing and abdominal distension were equally prevalent. There was no significant difference in TTG value and intestinal histopathology among two groups. Conclusion: Children with atypical presentation of CD had significant severe malnutrition and higher age at diagnosis than at diarrheal presentation. (author)

  5. Atypical presentation of late-onset Tay-Sachs disease.

    Science.gov (United States)

    Deik, Andres; Saunders-Pullman, Rachel

    2014-05-01

    Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity. We describe a 53-year-old woman who presented with adult-onset leg weakness, and whose initial diagnosis was progressive muscular atrophy without identifiable etiology. Development of cerebellar ataxia in mid-life prompted reassessment. Beta-hexosaminidase A quantification assay demonstrated absence of the isozyme. Genetic testing identified compound heterozygous mutations in the HEXA gene, confirming the diagnosis of LOTS. The phenotypic spectrum of LOTS includes motor neuronopathy, ataxia, choreoathetosis, neuropathy, and psychiatric symptoms in various combinations. This patient highlights the emergence of different clinical features over many years and emphasizes the need to consider LOTS in the differential diagnosis of progressive muscular atrophy. Copyright © 2013 Wiley Periodicals, Inc.

  6. A Rare Clinical Presentation of Darier’s Disease

    Directory of Open Access Journals (Sweden)

    Mybera Ferizi

    2013-01-01

    Full Text Available Darier’s disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions are presented as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains”. This paper reports a case of a 53-year-old woman that was admitted to our clinic with more than 10-year history of keratotic papules, presented on the hands and feet, nose, ears, genitalia, and whitish lesions on palatal mucosae.

  7. Toxoplasmosis presented as a submental mass: a common disease, uncommon presentation.

    Science.gov (United States)

    Li, Bo; Zou, Jian; Wang, Wei-Ya; Liu, Shi-Xi

    2015-01-01

    Submental mass secondary to toxoplasmosis is not common in clinical work. A diagnosis of toxoplasmosis is rarely considered by physicians. Here we describe a 50-year-old woman presented with a progressive, painful, submental and left neck swelling for 1 month. After having obtained an insufficient evidence from the fine-needle biopsy, the patient finally received an excisional biopsy which highly indicated the possibility of lymphadenopathy consistent with toxoplasmosis. Diagnosis of toxoplasmosis was finally established by a combination of the pathological criteria, together with the positive serological finding. According to review the clinical presentations, pathological characteristics, diagnostic standard and treatment of this disease, the article aims to remind otolaryngologists who are evaluating a neck mass should be aware of the infectious cause of lymphadenopathy and the possibility of toxoplasmosis.

  8. Presentation and Epidemiology of Gastroesophageal Reflux Disease.

    Science.gov (United States)

    Richter, Joel E; Rubenstein, Joel H

    2018-01-01

    Gastroesophageal reflux disease (GERD) is the most prevalent gastrointestinal disorder in the United States, and leads to substantial morbidity, though associated mortality is rare. The prevalence of GERD symptoms appeared to increase until 1999. Risk factors for complications of GERD include advanced age, male sex, white race, abdominal obesity, and tobacco use. Most patients with GERD present with heartburn and effortless regurgitation. Coexistent dysphagia is considered an alarm symptom, prompting evaluation. There is substantial overlap between symptoms of GERD and those of eosinophilic esophagitis, functional dyspepsia, and gastroparesis, posing a challenge for patient management. Copyright © 2018 AGA Institute. Published by Elsevier Inc. All rights reserved.

  9. Rare presentation of Kyrle′s disease in siblings

    Directory of Open Access Journals (Sweden)

    Viswanathan Seethalakshmi

    2008-01-01

    Full Text Available Background: Kyrle′s disease is a rare variant of primary perforating dermatosis. Its occurrence in a familial setting, especially in children, is extremely uncommon. Similar appearing skin lesions have been described in adults, secondary to metabolic disorders, infective agents as well as exposure to chemicals. We present a rare case of this genodermatosis in two siblings. Materials and Methods: Two siblings of a non-consanguineous marriage came with generalized discrete papular lesions with a central keratotic plug. All biochemical and serological investigations were within normal limits. Serial sections of the biopsy revealed typical epidermal invaginations filled with parakeratotic debris and perforation into the dermis with accompanying granulomatous reaction. Results and Conclusions: A careful history, detailed routine investigations and serial sections of the skin biopsy are required to demonstrate the typical morphology and stages of evolution of Kyrle′s disease. This helps to differentiate the rare primary Kyrle′s disease from other primary and secondary keratotic lesions. Due to the familial occurrence, screening of relatives of an index case is recommended.

  10. Idiopathic granulomatous mastitis: a heterogeneous disease with variable clinical presentation.

    Science.gov (United States)

    Baslaim, Muna M; Khayat, Hind A; Al-Amoudi, Shefaa A

    2007-08-01

    Idiopathic granulomatous mastitis (IGM) is a rare benign inflammatory breast disease that presents with variable local manifestations. We describe here the different management protocols based on the clinical presentation of these patients. A retrospective review of 20 histopathologic confirmed cases of IGM seen over a period of 10 years was performed. The median age was 34 years (age range: 21-45 years). All were married, parous with history of breast feeding. Ill-defined mass mimicking carcinoma was the commonest presentation (70%); however, with the presence of signs of inflammation like pain (55%), redness (40%), and peau d'orange (40%), an inflammatory process appeared more likely. Axillary lymph node enlargement was infrequently seen (40%). Radiologic findings (mammography and ultrasound) were nonspecific. Histopathology showed the characteristic lobular distribution of granulomatous inflammation in all cases. Surgically, 7 patients had abscess drainage with open biopsy, and 7 patients had lumpectomy. Six patients with diffuse breast involvement were diagnosed by core needle biopsy only. Microbial cultures showed no growth. Antibiotics were given empirically when signs of inflammation where present. Two patients needed further abscess drainage followed by persistent sinus excision 3-6 weeks later. The median follow-up was 24 months (range: 15-42 months). Seventeen patients (85%) were recurrence-free, and 3 patients (15%) were lost to follow-up. Management of IGM cases needs to be tailored according to the clinical presentation. Precise radiologic and pathologic data interpretation by a multidisciplinary breast team will facilitate diagnosis and minimize unnecessary intervention.

  11. Cushing’s Disease Presented by Reversible Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Berna İmge Aydoğan

    2015-01-01

    Full Text Available Introduction. Dilated cardiomyopathy is rarely reported among CS patients especially without hypertension and left ventricular hypertrophy. Materials and Methods. We hereby report a Cushing’s syndrome case presenting with dilated cardiomyopathy. Results. A 48-year-old female patient was admitted to our clinic with severe proximal myopathy and dilated cardiomyopathy without ventricular hypertrophy. Cushing’s disease was diagnosed and magnetic-resonance imaging of the pituitary gland revealed a microadenoma. Under diuretic and ketoconazole treatments, she underwent a successful transnasal/transsphenoidal adenomectomy procedure. Full recovery of symptoms and echocardiographic features was achieved after six months of surgery. Conclusion. Cushing’s syndrome must be kept in mind as a reversible cause of dilated cardiomyopathy. Recovery of cardiomyopathy is achieved with successful surgery.

  12. Adult polyglucosan body disease presenting as a unilateral progressive plexopathy.

    Science.gov (United States)

    Naddaf, Elie; Kassardjian, Charles D; Kurt, Yasemin Gulcan; Akman, Hasan Orhan; Windebank, Anthony J

    2016-06-01

    Adult polyglucosan body disease (APBD) usually presents with progressive spastic paraparesis, neurogenic bladder, and distal lower limb sensory abnormalities. It is caused by mutations in the glycogen branching enzyme gene (GBE1). We describe a woman with an unusual phenotype manifesting as progressive left brachial more than lumbosacral plexopathies, with central sensory and corticospinal tract involvement. Magnetic resonance imaging of the brain and cervical spine showed abnormal T2 signal within the ventral pons and medulla bilaterally, involving the pyramidal tracts and the medial leminisci. There was also medullary and cervical spine atrophy. On nerve biopsy, large polyglucosan bodies were noted in the endoneurium. The patient was found to be compound heterozygous for 2 novel mutations in GBE1. Peripheral blood leukocyte GBE activity was markedly reduced to 7% of normal, confirming the diagnosis of APBD. In this report we describe a new phenotype of APBD associated with 2 novel mutations. Muscle Nerve 53: 976-981, 2016. © 2016 Wiley Periodicals, Inc.

  13. IgG4-Related Disease Presenting as Isolated Scleritis

    Directory of Open Access Journals (Sweden)

    Eran Berkowitz

    2017-01-01

    Full Text Available A rare case of IgG4-related disease (IgG4-RD manifesting as nodular scleritis is presented in a 20-year-old female. Patient complained of left eye pain and redness for one week. Ocular examination together with ancillary testing led to the diagnosis of nodular scleritis. Since the patient did not show apparent improvement after one week of systemic steroidal treatment, she underwent a biopsy of the affected area revealing histopathological characteristics of IgG4-RD. Long-term treatment with corticosteroids and a steroid-sparing agent (methotrexate led to significant improvement in signs and symptoms. This case highlights the significance of IgG4-RD in the differential diagnosis of scleritis and raises the question as to whether various organs affected by IgG4-RD may have different underlying pathophysiological mechanisms in which pathogenic T cells play a role.

  14. Acute Psychosis as Major Clinical Presentation of Legionnaires’ Disease

    Directory of Open Access Journals (Sweden)

    Ricardo Coentre

    2016-01-01

    Full Text Available We report a case of a 61-year-old woman who presented with acute psychosis as a major manifestation of Legionnaires’ disease in the absence of other neuropsychiatric symptoms. Clinical history revealed dry cough and nausea. Observation showed fever and auscultation crackles in the lower lobe of the right lung. Laboratory testing demonstrated elevated C-reactive protein and lung chest radiograph showed patchy peribronchial and right lower lobe consolidation. Soon after admission, she started producing purulent sputum. Epidemiological data suggested Legionella pneumophila as possible cause of the clinical picture that was confirmed by urinary antigen detection and polymerase chain reaction of the sputum. She was treated with levofloxacin 750 mg/day for 10 days with complete remission of pulmonary and psychiatric symptoms. She has not had further psychotic symptoms.

  15. Unusual initial abdominal presentations of invasive meningococcal disease.

    Science.gov (United States)

    Guiddir, Tamazoust; Gros, Marion; Hong, Eva; Terrade, Aude; Denizon, Mélanie; Deghmane, Ala-Eddine; Taha, Muhamed-Kheir

    2018-03-28

    Invasive meningococcal disease (IMD) is recognized as septicemia and/or meningitis. However, early symptoms may vary and are frequently nonspecific. Early abdominal presentations have been increasingly described. We aimed to explore a large cohort of patients with initial abdominal presentations for association with particular meningococcal strains. Confirmed IMD cases in France between 1991-2016 were screened for the presence within the 24 hours before diagnosis of at least one of the following criteria (1) abdominal pain, (2) gastro-enteritis with diarrhea and vomiting, (3) diarrhea only. Whole genome sequencing was performed on all cultured isolates. We identified 105 cases (median age 19 years) of early abdominal presentations with a sharp increase since 2014. Early abdominal pain alone was the most frequent symptom (n=67, 64%), followed by gastro-enteritis (n=26, 25%) and diarrhea alone (n=12, 11%). Twenty patients (20%) had abdominal surgery. A higher case fatality rate (24%) was observed in these cases compared to 10.4% in all IMD in France (p=0.007) with high levels of inflammation markers in the blood. Isolates of group W were significantly more predominant in these cases compared to all IMD. Most of these isolates belonged to clonal complex ST-11 (cc11) of the sublineages of the South American-UK strain. Abdominal presentations are frequently provoked by hyperinvasive isolates of meningococci. Delay in the management of these cases and the virulence of the isolates may explain the high fatality rate. Rapid recognition is a key element to improve their management.

  16. Heart Rate and Initial Presentation of Cardiovascular Diseases (Caliber)

    Science.gov (United States)

    2013-09-17

    Abdominal Aortic Aneurysm; Coronary Heart Disease NOS; Unheralded Coronary Death; Intracerebral Haemorrhage; Heart Failure; Ischemic Stroke; Myocardial Infarction; Stroke; Peripheral Arterial Disease; Stable Angina Pectoris; Subarachnoid Haemorrhage; Transient Ischemic Attack; Unstable Angina; Cardiac Arrest, Sudden Cardiac Death

  17. Lyme Disease Presenting as a Spontaneous Knee Effusion.

    Science.gov (United States)

    Matzkin, Elizabeth; Suslavich, Kaytelin; Curry, Emily J

    2015-11-01

    Musculoskeletal complaints, which are frequently associated with Lyme disease, often prompt patients to see a physician. In particular, transient episodes of spontaneous knee effusion are common early in the progression of Lyme disease, and, if left untreated, 60% of patients diagnosed with the disease develop Lyme arthritis. This disease is easily treated with antibiotics; therefore, inclusion of Lyme disease in the differential diagnosis as a potential cause of a spontaneous knee effusion can prevent the development of more severe symptoms associated with the disease. However, the time required to receive test results and the inconsistencies between serum and synovial tests can complicate diagnosis of the disease. Copyright 2015 by the American Academy of Orthopaedic Surgeons.

  18. An unusual presenting symptom of graves' disease: myalgia.

    Science.gov (United States)

    Papanikolaou, N; Perros, P

    2013-01-01

    A 50-year-old female patient presented with severe myalgia involving her proximal muscles for 3-4 weeks. She also reported mild thyrotoxic symptoms over the same time period. Examination revealed mild thyrotoxicosis, a moderate diffuse goiter and no eye signs. The clinical picture was dominated by muscle pain and tenderness involving mainly her proximal arms and legs, her calves and her fingers, requiring opiate analgesia. Muscle power and tendon reflexes were normal. Laboratory evaluation revealed undetectable serum thyroid stimulating hormone (TSH) with raised FT4, FT3 and positive TSH receptor antibodies. Treatment with carbimazole was started. Additional laboratory investigations were negative (inflammatory markers, creatine kinase and antibodies to antinuclear antibodies, gastric parietal cell, smooth muscle, mitochondrial, dsDNA, centromere, extractable nuclear antigen (ENA) ribonucleoprotein, ENA Sm, ENA Ro, ENA Anti-La, ENA Scl70, ENA Jo-1, anti-CCP and rheumatoid factor). Further assessment in the rheumatology clinic confirmed there was no small joint tenderness or loss of range of movement of her limbs, but widespread and profound muscle tenderness of the common extensors of the forearms, biceps, trapezius, calves and thighs. She was treated symptomatically with analgesic medication and continued on carbimazole. A month later she was euthyroid and her myalgia had resolved. Hyperthyroidism has a profound effect on skeletal muscle and often leads to myopathy. Severe myalgia in association with Graves' disease is rare and resolves with the restoration of euthyroidism.

  19. Scabies, a Zoonotic Disease : Present and Future Challenge

    Directory of Open Access Journals (Sweden)

    April H Wardhana

    2006-03-01

    Full Text Available Scabies is a contagious skin disease caused by a mite of Sarcoptes scabiei . It is found worldwide particularly in regions related with of poverty, remote area, poor sanitations and nutritional status in both human and animals . Scabies is transmitted by direct contact . The clinical signs are intensive pruritis or itchiness, erythrema, papula and vesicle . Infestation S. scabiei caused damage skin and raised animal death (50 - 100% while 300 millions people per year were reported to suffer from scabies . Diagnosis of scabies is based on clinical signs and confirmed with gently scrapping the skin off burrow (seeking for eggs, faecals and mites . Beside that, the diagnosis can be obtained by ink test, mineral oil or fluorescence tetracycline test . ELISA method for detecting human scabies still has a disadvantage because there is a cross-reaction between host skin and var . S. scabiei antigens . The development of scabies vaccine also has many problems . Some human scabies cases were suspected from their livestock or pet animals . It is required a good and synergic collaboration between both health and livestock agencies that involved both human and vet medicals, investigators, quarantine staffs including researchers. Those factors become a challenge at present and in the future to prevent the spreading of scabies to a larger area and to minimize scabies cases in both human and animal, particularly in the endemic area .

  20. Atypical Presentation of a Common Disease: Shingles of the Larynx.

    Science.gov (United States)

    Hosseini, Sarah; Zawawi, Faisal; Young, Jonathan

    2015-09-01

    Herpes zoster is a neurocutaneous disease resulting from the reactivation of endogenous varicella-zoster virus (VZV) in dorsal sensory or cranial nerve ganglia. Rarely, this infection manifests without the characteristic dermatomal rash, a condition termed zoster sine herpete. Viral spreading of herpes zoster in the head and neck may manifest as various signs and symptoms because of the multiple possible combinations of cranial neuropathies. With only six cases reported in the English literature up to now, isolated neuropathies of the vagus nerve in the absence of cutaneous lesions tend to be misdiagnosed as idiopathic laryngeal paralysis. We report a case of herpes zoster of the larynx in an 80-year-old man presenting with sore throat, dysphagia, and hoarseness. Endoscopic examination revealed unilateral vocal fold paralysis, pooling of secretions, and mucosal vesicles of the hemilarynx. After the diagnosis of VZV infection with polymerase chain reaction (PCR) testing, the patient was treated with valacyclovir and corticosteroids, leading to complete recovery after 2 months. Herpes zoster of the larynx is an uncommon condition that should be included in the differential diagnosis of laryngeal paralysis of idiopathic cause. We recommend performing a thorough examination of the pharyngolaryngeal structures and ordering PCR testing as the diagnostic method of choice. Copyright © 2015 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

  1. [Acute renal failure: a rare presentation of Addison's disease].

    Science.gov (United States)

    Salhi, Houda

    2016-01-01

    Addison's disease is a rare condition. Its onset of symptoms most often is nonspecific contributing to a diagnostic and therapeutic delay. Acute renal failure can be the first manifestation of this disease. We report the case of a patient with Addison's disease who was initially treated for acute renal failure due to multiple myeloma and whose diagnosis was adjusted thereafter. Patient's condition dramatically improved after treatment with intravenous rehydration; injectable hydrocortisone.

  2. Foot-and-mouth disease: past, present and future

    DEFF Research Database (Denmark)

    Jamal, Syed Muhammad; Belsham, Graham

    2013-01-01

    within countries where the disease is endemic due to reduced animal productivity and the restrictions on international trade in animal products. The disease is caused by infection with foot-and-mouth disease virus (FMDV), a picornavirus. Seven different serotypes (and numerous variants) of FMDV have been...... it is important to characterize the viruses that are circulating if vaccination is being used for disease control. This review describes current methods for the detection and characterization of FMDVs. Sequence information is increasingly being used for identifying the source of outbreaks. In addition...

  3. Celiac Disease Genetics : Past, Present and Future Challenges

    NARCIS (Netherlands)

    Wijmenga, Cisca; Gutierrez Achury, Javier

    In the past few years there has been enormous progress in unraveling the genetic basis of celiac disease (CD). Apart from the well-known association to HLA, there are currently 40 genomic loci associated to CD. Most of these loci show pleiotropic effects across many autoimmune diseases and highlight

  4. The spectrum of renal diseases in HIV infected adults presenting ...

    African Journals Online (AJOL)

    The natural history of the renal diseases associated with HIV infection has been radically changed by antiretroviral therapy. There are other diseases, ... Patients had advanced HIV infection with mean CD4 count of197 cells/mm3. Majority of patients ( 64.5%) were not yet been initiated cART. 16% of the study patients were ...

  5. Epilepsy: unusual presentation of cerebral hydatid disease in children

    African Journals Online (AJOL)

    Cerebral hydatid disease is very rare, representing only 2% of all cerebral space occupying lesions even in the countries where the disease is endemic. Intracranial hydatid cysts are more common in children and occur more frequently in the supratentorial space. The aim of this paper is to describe the characteristic features ...

  6. PHB in Cardiovascular and Other Diseases: Present Knowledge and Implications.

    Science.gov (United States)

    Chowdhury, Debabrata; Kumar, Dinesh; Sarma, Pranjal; Tangutur, Anjana Devi; Bhadra, Manika Pal

    2017-11-30

    Prohibitin (PHB) is overtly conserved evolutionarily and ubiquitously expressed protein with pleiotropic functions in diverse cellular compartments. However, regulation and function of these proteins in different cells, tissues and in various diseases is different as evidenced by expression of these proteins which is found to be reduced in heart diseases, kidney diseases, lung disease, Crohn's disease and ulcerative colitis but this protein is highly expressed in diverse cancers. The mechanism by which this protein acts at the molecular level in different subcellular localizations or in different cells or tissues in different conditions (diseases or normal) has remained poorly understood. There are several studies reported to understand and decipher PHB's role in diseases and/or cancers of ovary, lung, stomach, thyroid, liver, blood, prostrate, gastric, esophagus, glioma, breast, bladder etc. where PHB is shown to act through mechanisms by acting as oncogene, tumor suppressor, antioxidant, antiapoptotic, in angiogenesis, autophagy etc. This review specifically gives attention to the functional role and regulatory mechanism of PHB proteins in cardiovascular health and diseases and its associated implications. Various molecular pathways involved in PHB function and its regulation are analyzed. PHB is rapidly emerging as a critical target molecule for cardiovascular signaling. Progress in delineating CVD and mechanisms of PHB in diverse molecular pathways is essential for determining when and how PHB targeted therapy might be feasible. In this regard, new therapies targeting PHB may best be applied in the future together with molecular profiling of CVD for clinical stratification of disease diagnosis and prognosis. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  7. Ebola Virus Disease: A Review of Its Past and Present.

    Science.gov (United States)

    Murray, Michael J

    2015-09-01

    Ebola virus, the virus responsible for Ebola virus disease, has spawned several epidemics during the past 38 years. In 2014, an Ebola epidemic spread from Africa to other continents, becoming a pandemic. The virus's relatively unique structure, its infectivity and lethality, the difficulty in stopping its spread, and the lack of an effective treatment captured the world's attention. This article provides a brief review of the known history of Ebola virus disease, its etiology, epidemiology, and pathophysiology and a review of the limited information on managing patients with Ebola virus disease.

  8. Presentation and pattern of childhood renal diseases in Gusau ...

    African Journals Online (AJOL)

    causes, nephrotic syndrome, congenital urinary tract obstructions ... primary disease, e.g. children with UTIs and background nephrotic syndrome were classified as .... children died, while 4 (6%) children's caregivers signed against medical ...

  9. Managing rheumatic and musculoskeletal diseases - past, present and future.

    Science.gov (United States)

    Burmester, Gerd R; Bijlsma, Johannes W J; Cutolo, Maurizio; McInnes, Iain B

    2017-07-01

    Progress in rheumatology has been remarkable in the past 70 years, favourably affecting quality of life for people with rheumatic and musculoskeletal diseases. Therapeutics have advanced considerably in this period, from early developments such as the introduction of glucocorticoid therapy to the general use of methotrexate and other disease-modifying agents, followed by the advent of biologic DMARDs and, most recently, small-molecule signalling inhibitors. Novel strategies for the use of such agents have also transformed outcomes, as have multidisciplinary nonpharmacological approaches to the management of rheumatic musculoskeletal disease including surgery, physical therapy and occupational therapy. Breakthroughs in our understanding of disease pathogenesis, diagnostics and the use of 'big data' continue to drive the field forward. Critically, the patient is now at the centre of management strategies as well as the future research agenda.

  10. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.

    Science.gov (United States)

    Stirnemann, Jérôme; Belmatoug, Nadia; Camou, Fabrice; Serratrice, Christine; Froissart, Roseline; Caillaud, Catherine; Levade, Thierry; Astudillo, Leonardo; Serratrice, Jacques; Brassier, Anaïs; Rose, Christian; Billette de Villemeur, Thierry; Berger, Marc G

    2017-02-17

    Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD-but also carriers of GBA1 mutation-have been found to be predisposed to developing Parkinson's disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT) using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase). Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat).

  11. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

    Directory of Open Access Journals (Sweden)

    Jérôme Stirnemann

    2017-02-01

    Full Text Available Gaucher disease (GD, ORPHA355 is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions, is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD—but also carriers of GBA1 mutation—have been found to be predisposed to developing Parkinson’s disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase. Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat.

  12. Diagnostics of parasitic diseases. Myths of the present

    Directory of Open Access Journals (Sweden)

    S. S. Kozlov

    2011-01-01

    Full Text Available Diagnostics of parasitic diseases in many medical laboratories is carried out with a bad quality. Principal causes are the low level of qualification of laboratorians and a small amount of laboratory methods which are used. The majority of practising doctors has bad knowledge about diseases. All this serves as base for occurrence in the market of medical services of various pseudoscientific methods of diagnostics of parasitic diseases, such as Voll-method and its analogues, including a method of bioresonant diagnostics, scanning of the crushed drop of blood, including a dark field method, diagnostics on pulse, detection of toxins of parasites in salivaric crystal amilase and others. These methods cannot be scientific to be the methods of demonstrative medicine often lead to development of parasitic phobias of patients.

  13. Diseases of the Date Palm: Present Status and Future Prospects

    Directory of Open Access Journals (Sweden)

    M. Djerbi

    1998-01-01

    Full Text Available While date palm is affected by many diseases, bayoud remains the most serious one. It is caused by a soil born pathogen, Fusarium oxyspurum f .sp. albedinis. It has affected practically all Moroccan palm groves as well as those of western and central Algerian sahara, where it has respectively killed more than 12 million in Morocco and three million in Algeria and has accelerated the desertification phenomenon. External and internal symptoms as well as identification methods of F.o. f. sp. albedinis by pathogenicity test, cultural characteristics, and vegetative compatibility were reviewed and discussed. Small distance contamination occurs by root contact between diseased trees and healthy ones, and at large distances through the movement of contaminated planting material (offshoots, symptomless carriers and infested soil and irrigation water. Prophylactic measures as well as chemical, cultural, biological and genetic controls were reviewed. It appears that the most productive mean lies in research into resistant cultivars. Hundreds of genotypes have been selected and introduced for micro-propagation and planted in infested areas to rehabilitate date palm oasis ravaged by bayoud. Among other date palm diseases Khamedj (Mauginiella scaettae, fruit rot (due to numerous fungi, Black scorch (Thielaviopsis paradoxa, Belaat (Phytophtora sp. are of minor importance and of sporadic occurrence. However, they become serious and cause heavy losses under favorable conditions and when proper sanitation is not applied. Two serious and fatal diseases of unknown causes (AI Wijam and the Brittle leaf disease as well as many other diseases and physiological disorders of minor importance were also reviewed.

  14. Hyperkalaemic periodic paralysis: a rare presentation of Addison's disease.

    Science.gov (United States)

    Sowden, J. M.; Borsey, D. Q.

    1989-01-01

    A 44 year old man with longstanding diabetes mellitus gave a 6-month history of periodic attacks of flaccid quadriplegia. Following one of these episodes he was admitted for assessment. In view of persistent hyperkalaemia, hypoadrenalism was suspected and Addison's disease was confirmed biochemically. Adrenal replacement therapy restored the potassium levels to normal and resulted in no further attacks of paralysis. PMID:2594601

  15. The Present Day Problems of Infections Diseases with Children

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2009-01-01

    Full Text Available Thearticlereviewsthemajorup-to-dateproblemsconcerning certain aspect of infections diseases treatment in children. Droplet infections, acute gastrointestinal infections, neuroinfections, viral herpes infections and viral hepatitis in children are fully characterized and described in detail. In addition, we give an outline of the ways and attitudes enabling to reduce the incidence and improve the outcomes.

  16. Ultrasonographic findings of Kimura's disease presenting in the upper extremities.

    Science.gov (United States)

    Shin, Gi Won; Lee, Sun Joo; Choo, Hye Jung; Park, Young Mi; Jeong, Hae Woong; Lee, Sung-Moon; Suh, Jin-Suck; Jung, Soo-Jin

    2014-12-01

    To describe ultrasound findings of Kimura's disease arising in the upper extremities. Five patients with Kimura's disease confirmed by surgical resection were retrospectively reviewed by two musculoskeletal radiologists and a pathologist. All six lesions involved the epitrochlear area and appeared as partially (n = 5) or poorly (n = 1) marginated subcutaneous masses with the presence of curvilinear hyperechoic bands intermingled within the hypoechoic components by US. Moderate (n = 4) to severe (n = 2) vascular signals were observed in some proportion of the hyperechoic bands by color Doppler US. The associated findings were the increased echogenicity of surrounding subcutaneous fat (n = 6) and adjacent lymphadenopathy (n = 4). Microscopic examination showed proliferation of lymphoid follicles with prominent germinal centers and intervening fibrosis. In this study, Kimura's disease arising in the upper extremities showed a partially defined hypoechoic subcutaneous mass with internal hyperechoic bands and moderate-to-severe vascularities, increased echogenicity of the surrounding subcutaneous fat and adjacent lymphadenopathy on US. Thus, when these US features are observed in the typical epitrochlear region of an Asian individual, especially if accompanied by peripheral eosinophilia, Kimura's disease should be considered as a possible diagnosis.

  17. Unusual presentation of adult Gaucher′s disease: A long and difficult road to diagnosis

    Directory of Open Access Journals (Sweden)

    Vishakha V Jain

    2011-01-01

    Full Text Available Gaucher′s disease is the most frequent sphingolipid storage disease. We present a case of type 1 non-neuropathic type of adult Gaucher′s disease patient with atypical presentation.

  18. Pyrosequencing Analysis of Norovirus Genogroup II Distribution in Sewage and Oysters: First Detection of GII.17 Kawasaki 2014 in Oysters.

    Science.gov (United States)

    Pu, Jian; Kazama, Shinobu; Miura, Takayuki; Azraini, Nabila Dhyan; Konta, Yoshimitsu; Ito, Hiroaki; Ueki, You; Cahyaningrum, Ermaya Eka; Omura, Tatsuo; Watanabe, Toru

    2016-12-01

    Norovirus GII.3, GII.4, and GII.17 were detected using pyrosequencing in sewage and oysters in January and February 2015, in Japan. The strains in sewage and oyster samples were genetically identical or similar, predominant strains belonging to GII.17 Kawasaki 2014 lineage. This is the first report of GII.17 Kawasaki 2014 in oysters.

  19. [Horseshoe kidney, stone disease and prostate cancer: a case presentation].

    Science.gov (United States)

    Hermida Pérez, J A; Bermejo Hernández, A; Hernández Guerra, J S; Sobenes Gutierrez, R J

    2013-01-01

    The horseshoe kidney is the most common congenital renal fusion anomalies. It occurs in 0.25% of the population, or 1 in every 400 people. It is more frequent in males (ratio 2:1). The most observed complication of horseshoe kidney is stone disease, although there may be others such as, abdominal pain, urinary infections, haematuria, hydronephrosis, trauma and tumours (most commonly associated with hypernephroma and Wilms tumour). We describe a case of a male patient with horseshoe kidney, stone disease and adenocarcinoma of the prostate. One carrier of this condition who suffered a transitional cell carcinoma of the prostate was found in a review of the literature. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  20. High Efficiency of Human Normal Immunoglobulin for Intravenous Administration in a Patient with Kawasaki Syndrome Diagnosed in the Later Stages

    Directory of Open Access Journals (Sweden)

    Tatyana V. Sleptsova

    2016-01-01

    Full Text Available The article describes a case of late diagnosis of mucocutaneous lymphonodular syndrome (Kawasaki syndrome. At the beginning of the therapy, the child had fever, conjunctivitis, stomatitis, rash, solid swelling of hands and feet, and coronaritis with the development of aneurysms. The article describes the successful use of normal human immunoglobulin for intravenous administration at a dose of 2 g/kg body weight per course in combination with acetylsalicylic acid at the dose of 80 mg/kg per day. After 3 days of treatment, the rash disappeared; limb swelling and symptoms of conjunctivitis significantly reduced; and laboratory parameters of disease activity became normal (erythrocyte sedimentation rate, C-reactive protein concentration. After 3 months, inflammation in the coronary arteries was stopped. After 6 months, a regression of coronary artery aneurysms was recorded. No adverse effects during the immunoglobulin therapy were observed.

  1. [An atypical presentation of Infantile Alexander disease lacking macrocephaly].

    Science.gov (United States)

    Esmer, Carmen; Villegas-Aguilera, Miguel; Morales-Ibarra, Juan José; Bravo-Oro, Antonio

    Alexander disease is a rare form of leukodystrophy that involves mainly astrocytes; it is inherited in an autosomal recessive manner and occurs by mutations in the GFAP gene, located on chromosome 17q21. It can occur at any age and its infantile form is characterized by macrocephaly, seizures, severe motor and cognitive delay, and progressive spasticity or ataxia. An 8-month-old female was evaluated with a history of neurodevelopmental delay and unprovoked focal motor seizures. Physical examination showed normal head circumference, increased motor responses to tactile and noise stimuli, pyramidal signs and no visceromegalies. Widespread hypodense white matter was found on magnetic resonance and lumbar puncture showed hyperproteinorrachia. Krabbe disease was ruled out by enzymatic assay and gene sequencing of GALC. In the reassessment of the case, abnormalities in neuroimaging lead to suspicion of Alexander disease, and GFAP gene sequencing reported a pathogenic mutation in exon 4 c.716G>A, which caused a change of arginine to histidine at position 239 of the protein (p.Arg239His). The radiographic signs observed in the resonance were decisive for the diagnosis, later confirmed by molecular study. It is important to consider that certain mutations are not associated with macrocephaly, which may cause delay in diagnosis. Copyright © 2016 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  2. MRI for Crohn’s Disease: Present and Future

    Directory of Open Access Journals (Sweden)

    Kichul Yoon

    2015-01-01

    Full Text Available Crohn’s disease (CD is a chronic inflammatory condition with relapsing-remitting behavior, often causing strictures or penetrating bowel damage. Its lifelong clinical course necessitates frequent assessment of disease activity and complications. Computed tomography (CT enterography has been used as primary imaging modality; however, the concern for radiation hazard limits its use especially in younger population. Magnetic resonance (MR imaging has advantages of avoiding radiation exposure, lower incidence of adverse events, ability to obtain dynamic information, and good soft-tissue resolution. MR enterography (MRE with oral contrast agent has been used as primary MR imaging modality of CD with high sensitivity, specificity, and interobserver agreement. The extent of inflammation as well as transmural ulcers and fibrostenotic diseases can be detected with MRE. Novel MR techniques such as diffusion-weighted MRI (DWI, motility study, PET-MRI, and molecular imaging are currently investigated for further improvement of diagnosis and management of CD. MR spectroscopy is a remarkable molecular imaging tool to analyze metabolic profile of CD with human samples such as plasma, urine, or feces, as well as colonic mucosa itself.

  3. Rare presentation of a common disease: Idiopathic hypoparathyroidism presenting with extrapyramidal symptoms and status epilepticus

    Directory of Open Access Journals (Sweden)

    Kaushik Ghosh

    2012-01-01

    Full Text Available We report of an 18-year-old male who presented with an epileptiform disorder, features of hypocalcemia, and an extrapyramidal symptom in the form of choreoathetosis. On evaluation he had idiopathic hypoparathyroidism with extensive calcifications in the extrapyramidal system of the brain; basal ganglion, as well as in the cerebral cortex and cerebellum, which is a rare entity. We report the rare presentation of a common disorder, which requires to be considered in evaluating hypoparathyroidism.

  4. Diagnosis of Ebola Virus Disease: Past, Present, and Future

    Science.gov (United States)

    Brooks, Tim J. G.

    2016-01-01

    SUMMARY Laboratory diagnosis of Ebola virus disease plays a critical role in outbreak response efforts; however, establishing safe and expeditious testing strategies for this high-biosafety-level pathogen in resource-poor environments remains extremely challenging. Since the discovery of Ebola virus in 1976 via traditional viral culture techniques and electron microscopy, diagnostic methodologies have trended toward faster, more accurate molecular assays. Importantly, technological advances have been paired with increasing efforts to support decentralized diagnostic testing capacity that can be deployed at or near the point of patient care. The unprecedented scope of the 2014-2015 West Africa Ebola epidemic spurred tremendous innovation in this arena, and a variety of new diagnostic platforms that have the potential both to immediately improve ongoing surveillance efforts in West Africa and to transform future outbreak responses have reached the field. In this review, we describe the evolution of Ebola virus disease diagnostic testing and efforts to deploy field diagnostic laboratories in prior outbreaks. We then explore the diagnostic challenges pervading the 2014-2015 epidemic and provide a comprehensive examination of novel diagnostic tests that are likely to address some of these challenges moving forward. PMID:27413095

  5. CAPS--pathogenesis, presentation and treatment of an autoinflammatory disease.

    Science.gov (United States)

    Kuemmerle-Deschner, Jasmin B

    2015-07-01

    The cryopyrin-associated periodic syndrome (CAPS) is a severity spectrum of rare diseases. CAPS comprises the three conditions previously described as familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID), also known as chronic infantile neurologic, cutaneous, and articular (CINCA) syndrome. The clinical phenotype of CAPS is characterized by systemic inflammation. General symptoms are fatigue and fever. Local manifestations affect multiple tissues such as skin, joints, muscles, eyes, and the central nervous system. Distinct clinical features are characteristic for each subphenotype. In FCAS, these are cold-induced urticaria and fever, in MWS systemic amyloidosis and hearing loss and in NOMID/CINCA central nervous system inflammation and bone deformities. CAPS is caused by single heterozygous germline or somatic gain of function mutations in the NLRP3 gene encoding the protein cryopyrin. Cryopyrin nucleates an NLRP3 inflammasome, which regulates the activation and cleavage of caspase-1 that cleaves the pro-inflammatory cytokines, IL-1β and IL-18. IL-1β plays the key role in the induction of inflammation in CAPS. This has been confirmed by the application of IL-1 blocking agents, which lead not only to a rapid and sustained reversal of daily symptoms but also to some extent of long-term disease sequelae. To prevent CAPS-induced organ damage, early diagnosis and swift initiation of effective treatment are mandatory.

  6. Presentations

    International Nuclear Information System (INIS)

    2007-01-01

    The presented materials consist of presentations of international workshop which held in Warsaw from 4 to 5 October 2007. Main subject of the meeting was progress in manufacturing as well as research program development for neutron detector which is planned to be placed at GANIL laboratory and will be used in nuclear spectroscopy research

  7. Small Vessel Cerebrovascular Disease: The Past, Present, and Future

    Directory of Open Access Journals (Sweden)

    Réza Behrouz

    2012-01-01

    Full Text Available Brain infarction due to small vessel cerebrovascular disease (SVCD—also known as small vessel infarct (SVI or “lacunar” stroke—accounts for 20% to 25% of all ischemic strokes. Historically, SVIs have been associated with a favorable short-term prognosis. However, studies over the years have demonstrated that SVCD/SVI is perhaps a more complex and less benign phenomenon than generally presumed. The currently employed diagnostic and therapeutic strategies are based upon historical and contemporary perceptions of SVCD/SVI. What is discovered in the future will unmask the true countenance of SVCD/SVI and help furnish more accurate prognostication schemes and effective treatments for this condition. This paper is an overview of SVCD/SVI with respect to the discoveries of the past, what is known now, and what will the ongoing investigations evince in the future.

  8. Combination pharmacotherapy to prevent cardiovascular disease: present status and challenges.

    Science.gov (United States)

    Yusuf, Salim; Attaran, Amir; Bosch, Jackie; Joseph, Philip; Lonn, Eva; McCready, Tara; Mente, Andrew; Nieuwlaat, Robby; Pais, Prem; Rodgers, Anthony; Schwalm, J-D; Smith, Richard; Teo, Koon; Xavier, Denis

    2014-02-01

    Combination pills containing aspirin, multiple blood pressure (BP) lowering drugs, and a statin have demonstrated safety, substantial risk factor reductions, and improved medication adherence in the prevention of cardiovascular disease (CVD). The individual medications in combination pills are already recommended for use together in secondary CVD prevention. Therefore, current information on their pharmacokinetics, impact on the risk factors, and tolerability should be sufficient to persuade regulators and clinicians to use fixed-dose combination pills in high-risk individuals, such as in secondary prevention. Long-term use of these medicines, in a polypill or otherwise, is expected to reduce CVD risk by at least 50-60% in such groups. This risk reduction needs confirmation in prospective randomized trials for populations for whom concomitant use of the medications is not currently recommended (e.g. primary prevention). Given their additive benefits, the combined estimated relative risk reduction (RRR) in CVD from both lifestyle modification and a combination pill is expected to be 70-80%. The first of several barriers to the widespread use of combination therapy in CVD prevention is physician reluctance to use combination pills. This reluctance may originate from the belief that lifestyle modification should take precedence, and that medications should be introduced one drug at a time, instead of regarding combination pills and lifestyle modification as complementary and additive. Second, widespread availability of combination pills is also impeded by the reluctance of large pharmaceutical companies to invest in development of novel co-formulations of generic (or 'mature') drugs. A business model based on 'mass approaches' to drug production, packaging, marketing, and distribution could make the combination pill available at an affordable price, while at the same time providing a viable profit for the manufacturers. A third barrier is regulatory approval for novel

  9. Bullosis Diabeticorum: Rare Presentation in a Common Disease

    Directory of Open Access Journals (Sweden)

    Vineet Gupta

    2014-01-01

    Full Text Available A 27-year-old African American male presented with a sudden onset of blisters. He had a past medical history of uncontrolled diabetes mellitus type I, diabetic vasculopathy, and neuropathy. The physical examination revealed nonerythematous skin denudations on both elbows and lateral aspect of arm bilaterally. Investigations which included skin biopsies confirmed the diagnosis of bullosis diabeticorum. The bullae were treated with hydrotherapy and healed with no complications in 4 weeks. We present this case to illustrate the rare occurrence of diabetic bulla in a diabetic patient especially with poor glycemic control. The case is also a reminder of the importance of diabetes screening in nondiabetic patients who are diagnosed with diabetic bulla.

  10. An Unusual Presenting Symptom of Graves’ Disease: Myalgia

    OpenAIRE

    Papanikolaou, N.; Perros, P.

    2012-01-01

    A 50-year-old female patient presented with severe myalgia involving her proximal muscles for 3–4 weeks. She also reported mild thyrotoxic symptoms over the same time period. Examination revealed mild thyrotoxicosis, a moderate diffuse goiter and no eye signs. The clinical picture was dominated by muscle pain and tenderness involving mainly her proximal arms and legs, her calves and her fingers, requiring opiate analgesia. Muscle power and tendon reflexes were normal. Laboratory evaluation re...

  11. Aortic dissection presenting as a febrile disease and atrial fibrillation

    OpenAIRE

    Blas-Macedo, Jorge; Márquez-Ramírez, Dolores; Gómez-Dominguez, José de Jesús

    2007-01-01

    Aortic dissection is a cardiovascular emergency. Its main manifestation is severe chest pain, and approximately 50% of patients present with an elevated systemic blood pressure. Rare reported physical findings include a pulsatile sterno-clavicular joint, dysphagia or testicular tenderness. The absence of sudden onset of pain lowers the likelihood of aortic dissection. We describe a patient in whom aortic dissection was accompanied by fever, nightsweats, suprasternal pain and atrial fibrillati...

  12. Pituitary oncocytoma presenting as Cushing′s disease

    Directory of Open Access Journals (Sweden)

    M K Garg

    2013-01-01

    Full Text Available A 19-year-old girl presented with classical features of Cushing′s syndrome. Endocrinal evaluation was consistent with pituitary source of ACTH; but imaging showed normal pituitary. Bilateral inferior petrosal sinus sampling confirmed the diagnosis. A successful remission was achieved after adenomectomy by transphenoidal route. Histopathological examination was consistent with pituitary oncocytoma and immunohistochemistry was positive for synaptophysin, chromogranin, neuron specific enolase, S-100, ACTH, prolactin, and GH.

  13. Generalised pruritus as a presentation of Grave’s disease

    OpenAIRE

    Tan, CE; Loh, KY

    2013-01-01

    Pruritus is a lesser known symptom of hyperthyroidism, particularly in autoimmune thyroid disorders. This is a case report of a 27-year-old woman who presented with generalised pruritus at a primary care clinic. Incidental findings of tachycardia and a goiter led to the investigations of her thyroid status. The thyroid function test revealed elevated serum free T4 and suppressed thyroid stimulating hormone levels. The anti-thyroid antibodies were positive. She was diagnosed with Graves’ disea...

  14. [Fibrocystic disease of the pancreas: a presentation feature. Anatomopathological report].

    Science.gov (United States)

    Heffes Nahmod, L A; Ortiz, J; Cervetto, J L; Guastavino, E; Boffi, A

    1984-01-01

    Five patients with CF (cystic fibrosis) dead between 1974 to 1982 at ages ranging from one to six months are presented. All of them showed edema, hypoalbuminemia and anemia in a severely compromised clinical situation, and failure to gain weight in spite of being breast-fed in the first weeks of life, in four of them. All of them were second or third degree malnourished babies (Gomez classification) at admission. Five children presented edema, two severe, two moderate and one mild. Hematocrit values ranged from 19% to 39% (means 26.4%), and albuminemia from 1.60 to 3.00 g/% (means 2.14 g/%). Two patients presented antecedents of dead brothers. All of them received substitution therapy with pancreatic enzymes. The children dead within seven and seventeen days of admission (means ten days) of broncho-pulmonar disfunction. In this work, we wish to call the pediatrician's attention about the importance of making this diagnostic presumption in the first months of the life.

  15. Ultrasonographic findings of the various diseases presenting as calf pain.

    Science.gov (United States)

    Lee, Sun Joo; Kim, Ok Hwa; Choo, Hye Jung; Park, Jun Ho; Park, Yeong-Mi; Jeong, Hae Woong; Lee, Sung Moon; Cho, Kil Ho; Choi, Jung-Ah; Jacobson, Jon A

    2016-01-01

    There are various causes of calf pain. The differential diagnoses affecting the lower leg include cystic lesions, trauma-related lesions, infection or inflammation, vascular lesions, neoplasms, and miscellaneous entities. Ultrasound (US) provide detailed anatomical information of the calf structures, and it offers the ability to confirm, other calf abnormalities, particularly when deep vein thrombosis (DVT) is ruled out. The purpose of this article is to review the causes of a painful calf presenting as DVT and incidental findings found as part of the work-up of DVT, and to provide a broad overview of US findings and clinical features of these pathologies. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Stroke as an Unusual First Presentation of Lyme Disease

    Directory of Open Access Journals (Sweden)

    Mohamad Almoussa

    2015-01-01

    Full Text Available Introduction. Lyme neuroborreliosis is a nervous system infection caused by spirochete Borrelia burgdorferi with diverse neurological complications. Stroke due to cerebral vasculitis is a rare consequence of neuroborreliosis and has been described in just a few case reports. Case Presentation. Here, we report the case of a 43-year-old patient who presented with discrete left-sided hemiparesis and amnestic cognitive impairment. Brain magnetic resonance imaging showed a thalamic infarct, and serological and cerebrospinal fluid (CSF tests confirmed the diagnosis of active neuroborreliosis. The antibiotic treatment with intravenous ceftriaxone for three weeks led to an improvement of the symptoms and remarkable regression of radiological findings, but not to full recovery of the amnestic cognitive disorder. Conclusion. Lyme neuroborreliosis should be suspected in patients with cerebrovascular events without obvious risk factors, especially those living in endemic areas such as northern Europe or those who have been exposed to ticks and those with clinical or radiological findings suggesting Lyme neuroborreliosis, in order to establish the diagnosis and start a proper antibiotic therapy.

  17. Presentations

    International Nuclear Information System (INIS)

    2007-01-01

    The PARIS meeting held in Cracow, Poland from 14 to 15 May 2007. The main subjects discussed during this meeting were the status of international project dedicated to gamma spectroscopy research. The scientific research program includes investigations of giant dipole resonance, probe of hot nuclei induced in heavy reactions, Jacobi shape transitions, isospin mixing and nuclear multifragmentation. The mentioned programme needs Rand D development such as new scintillations materials as lanthanum chlorides and bromides as well as new photo detection sensors as avalanche photodiodes - such subjects are also subjects of discussion. Additionally results of computerized simulations of scintillation detectors properties by means of GEANT- 4 code are presented

  18. Castleman′s Disease Presenting as Localized Abdominal Mass and Paraneoplastic Pemphigus

    Directory of Open Access Journals (Sweden)

    Santosh Kumar

    2016-01-01

    Full Text Available Castleman′s disease is a rare, benign lymphoproliferative disorder of unknown origin. Paraneoplastic pemphigus is a common association which presents as oral mucosal ulcerations. Abdominal and retroperitoneal Castleman′s disease present either as a localized disease or as a systemic disease. We hereby present a 15-year-old male patient with oral mucosal lesions with localized vague right lower abdominal mass who was diagnosed to have Castleman′s disease with paraneoplastic pemphigus which was surgically excised.

  19. Chronic meningococcemia: a rare presentation of meningococcal disease: case report

    Directory of Open Access Journals (Sweden)

    Antonio Adolfo Guerra Soares Brandão

    2012-03-01

    Full Text Available Chronic meningococcemia is a rare clinical presentation within the spectrumof infections due to Neisseria meningitidis, which was first described in 1902.It is defined as a chronic and benign meningococcal bacteremia withoutmeningeal signs or symptoms with at least one week’s duration, characterizedby intermittent or continuous fever, polymorphic cutaneous rash, and migratoryarthropathy. The incidence is believed to be around 1:200,000 inhabitants. Itaffects predominantly young people and adults, and it is equally distributedbetween genders. Diagnosis may be challenging in the early stages of thedisease because of the difficulty in isolating Neisseria meningitidis (it reaches74% of positivity in advanced stages. Recently, the use of PCR for detectingNeisseria sp antigen in skin biopsies specimens has been considered for thoseculture-negative cases. The authors report a case of a 54-year-old femalepatient who sought medical attention for a five-day fever followed by arthralgiaand skin lesions predominantly in the lower limbs. The patient progressed toa toxemic clinical status that improved after the administration of antibiotictherapy, which consisted of oxacillin and ceftriaxone. The diagnosis of chronicmeningococcemia was performed after the isolation of Neisseria meningitidisin two different blood sample cultures. This is, to our knowledge, the firstcase of chronic meningococcemia described in Brazil (up to the writing of thisreport.

  20. Myxoinflammatory fibroblastic sarcoma: spectrum of disease and imaging presentation

    Energy Technology Data Exchange (ETDEWEB)

    Gaetke-Udager, Kara; Yablon, Corrie M.; Morag, Yoav [University of Michigan Health System, Department of Radiology, Ann Arbor, MI (United States); Lucas, David R. [University of Michigan Health System, Department of Pathology, Ann Arbor, MI (United States)

    2016-03-15

    To describe the imaging findings of a series of myxoinflammatory fibroblastic sarcomas (MFSs) from our institution, including a case of dedifferentiated MFS and two cases with areas of high-grade tumor, in addition to typical cases of low-grade tumor. To correlate the imaging findings with the pathologic features of these tumors. IRB approval was obtained. Retrospective search of the pathology database at our institution from 2000 to 2015 identified seven cases of MFS with available imaging. Imaging, pathology, and clinical data were reviewed. Unlike the majority of well-differentiated tumors in our series (four cases), one tumor showed dedifferentiation and two cases had areas of high-grade tumor. The dedifferentiated tumor showed peripheral post-contrast enhancement. One case with a substantial high-grade component showed osseous destruction and peripheral enhancement in the high-grade area, while the low-grade component enhanced diffusely. The second case had a small high-grade area and showed diffuse enhancement. All three of these cases had non-acral locations and lacked association with a tendon. The four cases of low-grade MFS demonstrated diffuse enhancement, were located in the distal extremities, and were associated with a tendon. The imaging findings of dedifferentiated and high-grade MFS differ from the more typical low-grade tumors in that they have nonenhancing areas, a non-acral location, lack association with a tendon, and may involve bone. The radiologist should be aware that MFS represents a spectrum that includes low-grade tumors, tumors with high-grade areas, and tumors with dedifferentiation and that this spectrum presents with differing imaging features. (orig.)

  1. Presentation

    Directory of Open Access Journals (Sweden)

    Eduardo Vicente

    2013-06-01

    Full Text Available In the present edition of Significação – Scientific Journal for Audiovisual Culture and in the others to follow something new is brought: the presence of thematic dossiers which are to be organized by invited scholars. The appointed subject for the very first one of them was Radio and the invited scholar, Eduardo Vicente, professor at the Graduate Course in Audiovisual and at the Postgraduate Program in Audiovisual Media and Processes of the School of Communication and Arts of the University of São Paulo (ECA-USP. Entitled Radio Beyond Borders the dossier gathers six articles and the intention of reuniting works on the perspectives of usage of such media as much as on the new possibilities of aesthetical experimenting being build up for it, especially considering the new digital technologies and technological convergences. It also intends to present works with original theoretical approach and original reflections able to reset the way we look at what is today already a centennial media. Having broadened the meaning of “beyond borders”, four foreign authors were invited to join the dossier. This is the first time they are being published in this country and so, in all cases, the articles where either written or translated into Portuguese.The dossier begins with “Radio is dead…Long live to the sound”, which is the transcription of a thought provoking lecture given by Armand Balsebre (Autonomous University of Barcelona – one of the most influential authors in the world on the Radio study field. It addresses the challenges such media is to face so that it can become “a new sound media, in the context of a new soundscape or sound-sphere, for the new listeners”. Andrew Dubber (Birmingham City University regarding the challenges posed by a Digital Era argues for a theoretical approach in radio studies which can consider a Media Ecology. The author understands the form and discourse of radio as a negotiation of affordances and

  2. THE CLINICAL PRESENTATION OF AUTOIMMUNE THYROID DISEASE IN MEN IS ASSOCIATED WITH IL12B GENOTYPE

    DEFF Research Database (Denmark)

    Walsh, John P; Berry, Jemma; Liu, Shu

    2011-01-01

    hypothesized that IL12B genotype may influence the clinical presentation of autoimmune thyroid disease. Objective.  We tested for differences in IL12B genotype between Graves' disease and Hashimoto's disease. Patients.  We studied a discovery cohort of 203 Australian women and 37 men with autoimmune thyroid......' disease (P=0.005) and Hashimoto's disease (P=0.029). Conclusion.  In men with autoimmune thyroid disease, a common variant located upstream of the IL12B coding region may influence whether patients present with Graves' disease or Hashimoto's disease....

  3. Ideal gas approximation for a two-dimensional rarefied gas under Kawasaki dynamics

    NARCIS (Netherlands)

    Gaudillière, A.; Hollander, den W.Th.F.; Nardi, F.R.; Olivieri, E.; Scoppola, E.

    2009-01-01

    In this paper we consider a two-dimensional lattice gas under Kawasaki dynamics, i.e., particles hop around randomly subject to hard-core repulsion and nearest-neighbor attraction. We show that, at fixed temperature and in the limit as the particle density tends to zero, such a gas evolves in a way

  4. Kawasaki dynamics with two types of particles : stable/megastable configurations and communication heights

    NARCIS (Netherlands)

    Hollander, den W.Th.F.; Nardi, F.R.; Troiani, A.

    2011-01-01

    This is the second in a series of three papers in which we study a two-dimensional lattice gas consisting of two types of particles subject to Kawasaki dynamics at low temperature in a large finite box with an open boundary. Each pair of particles occupying neighboring sites has a negative binding

  5. Metastability for Kawasaki dynamics at low temperature with two types of particles

    NARCIS (Netherlands)

    Hollander, den W.Th.F.; Nardi, F.R.; Troiani, A.

    2011-01-01

    This is the fi??rst in a series of three papers in which we study a two-dimensional lattice gas consisting of two types of particles subject to Kawasaki dynamics at low temperature in a large fi??nite box with an open boundary. Each pair of particles occupying neighboring sites has a negative

  6. Kawasaki dynamics with two types of particles: stable/megastable configurations and communication heights

    NARCIS (Netherlands)

    Hollander, den W.Th.F.; Nardi, F.R.; Troiani, A.

    2011-01-01

    This is the second in a series of three papers in which we study a two-dimensional lattice gas consisting of two types of particles subject to Kawasaki dynamics at low temperature in a large finite box with an open boundary. Each pair of particles occupying neighboring sites has a negative binding

  7. Lower extremity necrotizing fasciitis: A unique initial presentation of Crohn's disease

    Directory of Open Access Journals (Sweden)

    Anna Weiss

    2015-09-01

    Full Text Available Crohn's disease is a disease of the bowel, typically presenting with diarrhea, weight loss, and abdominal pain. Complications such as abscesses, fistulas, and strictures may require surgical intervention. We would like to report a patient with Crohn's disease who presented for the first time with left lower extremity necrotizing fasciitis. There are very few reports of necrotizing fasciitis in Crohn's disease as the initial presentation.

  8. Celiac Disease Presenting as Profound Diarrhea and Weight Loss ? A Celiac Crisis

    OpenAIRE

    Bul, Vadim; Sleesman, Brett; Boulay, Brian

    2016-01-01

    Patient: Male, 46 Final Diagnosis: Celiac crisis Symptoms: Abdominal pain ? chronic diarrhea ? lightheadedness ? weakness ? weight loss Medication: ? Clinical Procedure: ? Specialty: Gastroenterology and Hepatology Objective: Rare disease Background: Celiac disease is a hypersensitivity enteropathy that can have various presentations in adults. Rarely, patients can present with severe lab abnormalities, dehydration and weight loss caused by celiac disease ? a celiac crisis. Case Report: A 46-...

  9. Disseminated hydatid disease presenting as fever of unknown origin: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Nikhil Gupta

    2015-01-01

    Full Text Available Human hydatid disease occurs due to infection with larval form of Echinococcus granulosus. The disseminated hydatid disease is a very rare finding. Disseminated hydatid disease presenting as a cause of fever of unknown origin is a rare phenomenon. We present to you such a rare case.

  10. A rare presentation of extra nodal rosai-dorfman disease (case report

    Directory of Open Access Journals (Sweden)

    Abbas Al-Ramzi

    2017-06-01

    It is a very rare condition that Rosai-Dorfman disease might shoe a temporoparietal area involvement can be seen from a review of all literature. The presentation of the disease, differential diagnosis and treatment were discussed.

  11. Simultaneous Presentation of Duane Retraction Syndrome and Coats' Disease: A Case Report

    Directory of Open Access Journals (Sweden)

    Mohammad Sharifi

    2014-07-01

    Conclusion: The occurrence of two different congenital and acquired ocular diseases is rare. This is the first simultaneous presentation of Duane syndrome and Coats' disease ever to be reported in a young patient.

  12. Epizootic shell disease in American lobsters Homarus americanus in southern New England: past, present and future.

    Science.gov (United States)

    Castro, Kathleen M; Cobb, J Stanley; Gomez-Chiarri, Marta; Tlusty, Michael

    2012-08-27

    The emergence of epizootic shell disease in American lobsters Homarus americanus in the southern New England area, USA, has presented many new challenges to understanding the interface between disease and fisheries management. This paper examines past knowledge of shell disease, supplements this with the new knowledge generated through a special New England Lobster Shell Disease Initiative completed in 2011, and suggests how epidemiological tools can be used to elucidate the interactions between fisheries management and disease.

  13. Scrub typhus caused by Orientia tsutsugamushi Kawasaki-related genotypes in Shandong Province, northern China.

    Science.gov (United States)

    Zhang, Luyan; Bi, Zhenwang; Kou, Zengqiang; Yang, Huili; Zhang, Aihua; Zhang, Shoufeng; Meng, Xiangpeng; Zheng, Li; Zhang, Meng; Yang, Hui; Zhao, Zhongtang

    2015-03-01

    Orientia tsutsugamushi, the causative agent of scrub typhus, is an obligate intracellular bacterium and characterized by dramatic genetic diversity. To elucidate the genotypes of O. tsutsugamushi populating in patients in Shandong Province, a new epidemic zone in China, we sequenced partial of the 56-kDa type-specific antigen gene (TSA) and identified the genotypes of 43 O. tsutsugamushi samples from human patients confirmed with scrub typhus from 2010 to 2013. All of the 43 sequences are in the same clade, 39 of them are in one branch and the other four sequences, nominated as SH1002, SH1306, SH1309, and SH1307 are in four separate branches. To clarify the clinical characterizations caused by Kawasaki-related genotypes, we studied the clinical profiles of these 43 scrub typhus patients. Most patients (88.1%) were farmers lived in rural areas. They presented with fever (100.0%), headache (79.1%), dizziness (32.6%), generalized myalgia (48.8%), fatigue (53.5%), anorexia (53.5%), facial flushing (23.3%), conjunctival congestion (11.6%), skin rashes (58.1%) and lymphadenopathy (23.3%). Eschar (97.7%) was quite common in patients, which provided doctors with a luminous clue for diagnosis of scrub typhus. Thrombocytopenia was seen in 23.1% of patients, and three patients (7.0%) had bronchopneumonia. There was no death report in Shandong Province during the study period. The present study provides beneficial data for clinical, serological, and molecular diagnosis of scrub typhus infections, and also provides foundations for subsequent studies. Copyright © 2015 Elsevier B.V. All rights reserved.

  14. Heavy and Light chain amyloidosois presenting as complete heart block: A rare presentation of a rare disease.

    Science.gov (United States)

    Priyamvada, P S; Morkhandikar, S; Srinivas, B H; Parameswaran, S

    2015-01-01

    Amyloidosis is an uncommon disease characterized by deposition of proteinaceous material in the extracellular matrix, which results from abnormal protein folding. Even though more than 25 precursor proteins are identified, majority of systemic amyloidosis results from deposition of abnormal immunoglobulin (Ig) light chains. In heavy chain amyloidosis (AH), deposits are derived from both heavy chain alone, whereas in heavy and light chain amyloidosis (AHL), the deposits are derived from Ig heavy chains and light chains. Both AH and AHL are extremely rare diseases. Here, we report an unusual presentation of IgG (lambda) AHL amyloidosis in the background of multiple myeloma, where the initial clinical presentation was complete heart block, which preceded the definitive diagnosis by 18 months.

  15. Heavy and Light chain amyloidosois presenting as complete heart block: A rare presentation of a rare disease

    Directory of Open Access Journals (Sweden)

    P S Priyamvada

    2015-01-01

    Full Text Available Amyloidosis is an uncommon disease characterized by deposition of proteinaceous material in the extracellular matrix, which results from abnormal protein folding. Even though more than 25 precursor proteins are identified, majority of systemic amyloidosis results from deposition of abnormal immunoglobulin (Ig light chains. In heavy chain amyloidosis (AH, deposits are derived from both heavy chain alone, whereas in heavy and light chain amyloidosis (AHL, the deposits are derived from Ig heavy chains and light chains. Both AH and AHL are extremely rare diseases. Here, we report an unusual presentation of IgG (lambda AHL amyloidosis in the background of multiple myeloma, where the initial clinical presentation was complete heart block, which preceded the definitive diagnosis by 18 months.

  16. Disease outcome for children who present with oral manifestations of Crohn's disease.

    LENUS (Irish Health Repository)

    Hussey, S

    2011-06-01

    To describe the outcome for children with oral Crohn\\'s disease (OCD) at diagnosis, and to determine if there was a difference in the Paediatric Crohn\\'s Disease Activity Index (PCDAI) scores between those with and those without oral lesions at follow-up.

  17. Achieving carbon emission reduction through industrial and urban symbiosis: A case of Kawasaki

    International Nuclear Information System (INIS)

    Dong, Huijuan; Ohnishi, Satoshi; Fujita, Tsuyoshi; Geng, Yong; Fujii, Minoru; Dong, Liang

    2014-01-01

    Industry and fossil fuel combustion are the main sources for urban carbon emissions. Most studies focus on energy consumption emission reduction and energy efficiency improvement. Material saving is also important for carbon emission reduction from a lifecycle perspective. IS (Industrial symbiosis) and U r S (urban symbiosis) have been effective since both of them encourage byproduct exchange. However, quantitative carbon emission reduction evaluation on applying them is still lacking. Consequently, the purpose of this paper is to fill such a gap through a case study in Kawasaki Eco-town, Japan. A hybrid LCA model was employed to evaluate to the lifecycle carbon footprint. The results show that lifecycle carbon footprints with and without IS and U r S were 26.66 Mt CO 2 e and 30.92 Mt CO 2 e, respectively. The carbon emission efficiency was improved by 13.77% with the implementation of IS and U r S. The carbon emission reduction was mainly from “iron and steel” industry, cement industry and “paper making” industry, with figures of 2.76 Mt CO 2 e, 1.16 Mt CO 2 e and 0.34 Mt CO 2 e, respectively. Reuse of scrape steel, blast furnace slag and waste paper are all effective measures for promoting carbon emission reductions. Finally, policy implications on how to further promote IS and U r S are presented. - Highlights: • We evaluate carbon emission reduction of industrial and urban symbiosis (IS/U r S). • Hybrid LCA model was used to evaluate lifecycle carbon footprint. • Carbon emission efficiency was improved by 13.77% after applying IS/U r S. • The importance of U r S in responding carbon reduction was addressed in the paper

  18. Celiac disease causing severe osteomalacia: an association still present in Morocco!

    OpenAIRE

    Tahiri, Latifa; Azzouzi, Hamida; Squalli, Ghita; Abourazzak, Fatimazahra; Harzy, Taoufik

    2014-01-01

    Celiac disease (CD), a malabsorption syndrome caused by hypersensitivity to gliadin fraction of gluten. CD can manifest with classic symptoms; however, significant myopathy and multiple fractures are rarely the predominant presentation of untreated celiac disease. Osteomalacia complicating celiac disease had become more and more rare. We describe here a case of osteomalacia secondary to a longstanding untreated celiac disease. This patient complained about progressive bone and muscular pain, ...

  19. Congenital pulmonary airway malformation (CPAM) with initial presentation in an adult: a rare presentation of a rare disease.

    Science.gov (United States)

    Abu Omar, Mohannad; Tylski, Emily; Abu Ghanimeh, Mouhanna; Gohar, Ashraf

    2016-09-26

    Congenital pulmonary airway malformation (CPAM) is a rare congenital abnormality with unknown exact aetiology or clear genetic association. It is characterised by a failure of bronchial development and localised glandular overgrowth. Typically, it is diagnosed on prenatal ultrasound, only infrequently in children, and even less commonly in adults. We present a case of a 25-year-old man, with no previous lung diseases who presented with right-sided chest pain, fever and cough suggestive of pulmonary infection. Chest imaging, including CT scan, showed a large focal cystic mass within the right lower lobe along with ground glass opacities suggestive of CPAM. He was started on intravenous antibiotics. Bronchoscopy showed a large amount of pus in the right lung and bronchoalveolar lavage confirmed the microbiological diagnosis of methicillin-resistant Staphylococcus aureus. He improved with antibiotic treatment. He was discharged with 6-week course of antibiotics and follow-up afterward. 2016 BMJ Publishing Group Ltd.

  20. Patterns of clinical presentation of adult coeliac disease in a rural setting

    Directory of Open Access Journals (Sweden)

    D'Souza Charles

    2006-09-01

    Full Text Available Abstract Background In recent years there has been increasing recognition that the pattern of presentation of coeliac disease may be changing. The classic sprue syndrome with diarrhoea and weight loss may be less common than the more subtle presentations of coeliac disease such as an isolated iron deficiency anaemia. As a result, the diagnosis of this treatable condition is often delayed or missed. Recent serologic screening tests allow non-invasive screening to identify most patients with the disease and can be applied in patients with even subtle symptoms indicative of coeliac disease. Both benign and malignant complications of coeliac disease can be avoided by early diagnosis and a strict compliance with a gluten free diet. Aim The aim of this study is to evaluate the trends in clinical presentation of patients diagnosed with adult coeliac disease. In addition, we studied the biochemical and serological features and the prevalence of associated conditions in patients with adult coeliac disease. Methods This is an observational, retrospective, cross-sectional review of the medical notes of 32 adult patients attending the specialist coeliac clinic in a district general hospital. Results Anaemia was the most common mode of presentation accounting for 66% of patients. Less than half of the patients had any of the classical symptoms of coeliac disease and 25% had none of the classical symptoms at presentation. Anti-gliadin antibodies, anti-endomysial antibody and anti-tissue transglutaminase showed 75%, 68% and 90% sensitivity respectively. In combination, serology results were 100% sensitive as screening tests for adult coeliac disease. Fifty nine percent patients had either osteoporosis or osteopenia. There were no malignant complications observed during the follow up of our patients. Conclusion Most adults with coeliac disease have a sub clinical form of the disease and iron deficiency anaemia may be its sole presenting symptom. Only a minority

  1. Huntington disease: a case study of early onset presenting as depression.

    Science.gov (United States)

    Duesterhus, Pia; Schimmelmann, Benno Graf; Wittkugel, Oliver; Schulte-Markwort, Michael

    2004-10-01

    Huntington disease is a dominantly inherited, neurodegenerative disease characterized by choreiform movement disturbances and dementia, usually with adult onset. The rare juvenile-onset Huntington disease differs from the adult phenotype. A case presenting twice, at age 10 with all the signs of a major depression and age 14 with mutism and rigidity, is reported. Meanwhile, the father developed the adult variant of Huntington disease. The boy's diagnosis was confirmed by molecular genetic analysis and magnetic resonance imaging. It is important to be aware of hereditary conditions such as Huntington disease and to provide family counseling before genetic testing and after the diagnosis is confirmed.

  2. Castleman s Disease with an Unusual Radiological Presentation: A Case Report

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    Nesrin Ocal

    2014-02-01

    Full Text Available Castleman%u2019s disease is a rare lymphoproliferative pathology which has two clinicoradiological forms; localized disease and disseminated disease. Histopathologically, Castleman%u2019s disease is evaluated in three groups; hyaline-vascular type, plasma cell type and mixed type. Patients are often asymptomatic and are diagnosed by radiological findings. The most common radiological presentation is huge lymph nodes in mediastinal area. Lymphadenopathy is most frequently observed in paratracheal lymph nodes. We wanted to emphasize this very rare entity and remind you this disease by the mean of a case with different radiological appearance.

  3. Creutzfeldt-Jacob’s Disease Presenting with Psychiatric Symptomsand Severe Itching

    Directory of Open Access Journals (Sweden)

    Emine Rabia Koç

    2013-03-01

    Full Text Available Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disease that is characterized by the accumulation of abnormal prion-like proteins in the central nervous system. Clinical features, electroencephalography, brain magnetic resonance imaging and protein 14.3.3 is useful in diagnosis. Protein 14.3.3 may be negative in the early or late stages of the disease. Presentation with psychiatric symptoms and itching is not typical in the beginning of the disease In this paper, we present a patient who was first accepted to the pschiatry ward because of his psychiatric symtpoms and had severe itching, resistant to antihistaminic drugs

  4. Acute abdomen and ascites as presenting features of autosomal dominant polycystic kidney disease

    OpenAIRE

    Chaudhary, Sanjay; Qian, Qi

    2012-01-01

    We describe a patient with sudden onset of abdominal pain and ascites, leading to the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). Her presentation was consistent with acute liver cyst rupture as the cause of her acute illness. A review of literature on polycystic liver disease in patients with ADPKD and current management strategies are presented. This case alerts physicians that ADPKD could occasionally present as an acute abdomen; cyst rupture related to ADPKD may be ...

  5. [Celiac crisis with quadriplegia due to potassium depletion as presenting feature of celiac disease].

    Science.gov (United States)

    Atikou, A; Rabhi, M; Hidani, H; El Alaoui Faris, M; Toloune, F

    2009-06-01

    Adult coeliac disease revealed by coeliac crisis and quadriplegia due to potassium depletion is an extremely rare situation. A 26-year-old woman presented with a suddenly developed weakness of all four limbs and a severe diarrhea. Authors emphasize coeliac crisis, which is a presenting feature of coeliac disease, characterized by acute diarrhea with life-threatening acid base and electrolyte abnormalities. The patient improved with correction of hypokalemia and gluten-free diet. A severe acute diarrhea with metabolic and systemic complications, the so-called coeliac crisis, is a possible presenting clinical feature of a previously undiagnosed adult celiac disease.

  6. Mesangioproliferative glomerulonephritis in a patient with Kimura′s disease presenting as Nephrotic syndrome

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    Surendra Singh Rathore

    2015-01-01

    Full Text Available Kimura′s disease is a rare chronic eosinophilic inflammatory disorder of unknown etiology. Majority of cases have been reported from South East Asia, while sporadic occurrences have been reported worldwide, including the Indian subcontinent. Nephrotic syndrome may be the presenting manifestation of Kimura′s disease, and a variety of renal lesions are observed histologically in such patients. We herein describe a case of steroid-responsive mesangioproliferative glomerulonephritis related to kimura′s disease.

  7. Canavan disease - unusual imaging features in a child with mild clinical presentation

    International Nuclear Information System (INIS)

    Nguyen, Ho V.; Ishak, Gisele E.

    2015-01-01

    Canavan disease is a rare hereditary leukodystrophy that manifests in early childhood. Associated with rapidly progressive clinical deterioration, it usually results in death by the third year of life. The predominant MRI appearance is diffuse and symmetrical white matter disease. We discuss an atypical, late presentation of Canavan disease with a benign clinical course and uncharacteristic imaging features. This case introduces a previously unreported pattern of diffuse cortical abnormality without significant white matter involvement. (orig.)

  8. Canavan disease - unusual imaging features in a child with mild clinical presentation

    Energy Technology Data Exchange (ETDEWEB)

    Nguyen, Ho V.; Ishak, Gisele E. [University of Washington, Department of Radiology, Seattle Children' s Hospital, Seattle, WA (United States)

    2015-03-01

    Canavan disease is a rare hereditary leukodystrophy that manifests in early childhood. Associated with rapidly progressive clinical deterioration, it usually results in death by the third year of life. The predominant MRI appearance is diffuse and symmetrical white matter disease. We discuss an atypical, late presentation of Canavan disease with a benign clinical course and uncharacteristic imaging features. This case introduces a previously unreported pattern of diffuse cortical abnormality without significant white matter involvement. (orig.)

  9. Hydatid cyst of testis: An unusual presentation of hydatid disease - case report and review of literature

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    Baldev Singh

    2001-01-01

    Full Text Available Hvdatid disease is a parasitic disease usually caused by Echinococcus granulosus. It usually presents with liver involvement and uncommonly lungs and rarely other organs are involved. A rare case of hydatid testis is reported that was provisionally diagnosed as testicular tumor.

  10. Varied presentations of moyamoya disease in a tertiary care hospital of north-east India

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    Papori Borah

    2014-01-01

    Full Text Available Introduction: Moyamoya disease is a chronic progressive cerebrovascular disorder, characterized by stenosis or occlusion of bilateral internal carotid arteries (ICAs, anterior cerebral arteries (ACAs and middle cerebral arteries (MCAs, accompanied by a collateral network of vessels formed at the base of the brain. Ischemia and intracranial hemorrhage are the common typical manifestations. However moyamoya disease has been associated with atypical presentations like headache, seizures and involuntary movements. Although frequently reported from Asian countries like Japan, China and Korea, only few studies reported on clinical manifestations of moyamoya disease from India. Objectives: To study the varied presentations of moyamoya disease in a tertiary care hospital of north-east India. Material and Methods: Relevant investigations were done to rule out other causes of moyamoya syndrome. Results: We report 6 cases of moyamoya disease with varied presentations from a tertiary care referral government hospital. Case 1, 2 and 6 presented with alternating hemiparesis. Case 3 had amaurosis fugax. Case 4 had history suggestive of ischemic stroke and presented with hemichorea. Case 4 had focal seizure as the only manifestation. Cases 4 and 5 notably had stenosis of posterior cerebral artery (PCA in addition to stenosis of bilateral ICAs, ACAs and MCAs. Conclusion: Owing to its low incidence in India, moyamoya disease is easily overlooked as a possible diagnosis. However, because of its progressive nature, it is imperative to diagnose this disease early and offer surgical treatment to the patients.

  11. [Diagnosis and Treatment of Peptic Ulcer Disease: Present and Future Perspective].

    Science.gov (United States)

    Kim, Byung Wook

    2016-06-25

    Peptic ulcer disease is one of the most commonly encountered diseases in gastroenterology clinics. After the discovery of Helicobacter pylori by Warren and Marshall, it has been identified as the most important cause of peptic ulcer. Eradication of H. pylori markedly reduces the post-treatment recurrence rate of peptic ulcer. However, as human populations age, the incidence of cardiovascular and musculoskeletal diseases increases and consequent use of aspirin and non-steroidal anti-in-flammatory drugs increases. Thus causes and presenting patterns of peptic ulcer have changed. In this review, I describe new diagnostic and therapeutic strategies for peptic ulcer disease and explore future perspectives.

  12. A young diabetic with suicidal risk: Rare disease with a rarer presentation

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    Rajeev Philip

    2013-01-01

    Full Text Available Rare genetic or inherited forms of diabetes can mimic immune mediated type 1 diabetes. Early age of onset and associated features help to differentiate these diseases from type 1 diabetes. Wolfram syndrome, an inherited neuro degenerative disorder, presents as insulin dependent diabetes mellitus, diabetes insipidus, optic atrophy and deafness. But less well described features like psychiatric manifestations can be the presentation of this disease. We present such a case. Wolfram syndrome should be considered as a differential diagnosis in insulin dependent diabetic children who present with neuropsychiatric problems.

  13. Hypokalemic Rhabdomyolysis Induced Acute Renal Failure As a Presentation of Coeliac Disease

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    Funda Sarı

    2012-03-01

    Full Text Available Adult coeliac disease commonly presents without classical symptoms as chronic diarrhea and weight loss. We describe the case of a 31-year-old woman with persistent life-threatening hypokalemia, acute renal failure, and acute quadriplegia due to diarrhea that had continued for one month. Although there are cases of coeliac disease diagnosed with hypokalemic rhabdomyolysis in the literature, none of the cases developed acute renal failure. This is the first case in the literature diagnosed with acute renal failure due to hypokalemic rhabdomyolysis as a presentation of coeliac disease. In acute renal failure cases that present with hypokalemic rhabdomyolysis due to severe diarrhea, coeliac disease should be considered as a differential diagnosis despite the negative antigliadin IgA antibody.

  14. Changes in Presentation of Celiac Disease in Ireland From the 1960s to 2015.

    Science.gov (United States)

    Dominguez Castro, Patricia; Harkin, Grace; Hussey, Mary; Christopher, Brian; Kiat, Clifford; Liong Chin, Jun; Trimble, Valerie; McNamara, Deirdre; MacMathuna, Padraic; Egan, Brian; Ryan, Barbara; Kevans, David; Farrell, Richard; Byrnes, Valerie; Mahmud, Nasir; McManus, Ross

    2017-06-01

    Celiac disease is an immune-mediated enteropathy characterized with high heterogeneity in presentation among genetically predisposed individuals. In recent years, a change in the phenotypic presentation of celiac disease has been reported. We studied clinical presentation, from 1960 through 2015, in Ireland, which has a high incidence of celiac disease. We performed a retrospective analysis of medical charts from patients diagnosed with celiac disease at 5 secondary referral centers in Ireland from 1960 through 2015 (n = 749; median age, 56 years; age range, 18-91 years). The cohort was divided into 5 groups based on year of diagnosis (≤1985, 1986-1995, 1996-2005, 2006-2010, or 2011 and later). We collected findings from clinical presentation at diagnosis; serology tests; small intestinal biopsy analyses; and patients' demographic, clinical, and family data. Presentations at diagnosis were classified according to the Oslo criteria as follows: classical (patients presenting with malabsorption), nonclassical (no signs or symptoms of malabsorption at presentation), or subclinical (below the threshold of clinical detection). The primary outcome was change in clinical presentation of celiac disease over time. Of the 749 patients studied, 512 were female and 237 were male (ratio of 2.2:1). Female patients were diagnosed at younger ages than male patients (42 vs 47 years, respectively; P = .004), and had more immune-mediated conditions than male patients (35.7% for female patients vs 21.5% for male patients; P celiac disease after 2010 (48.4%) than ≤1985 (85.2%); the proportion of patients with nonclassical or subclinical celiac disease increased from 14.8% ≤1985 to 51.6% after 2010 (P = .006 for each). Biopsies categorized as Marsh 3c decreased, from 52.2% in the period 1996-2005 to 22.5% in the period after 2010 (P = .003). The prevalence of associated thyroid disease has decreased during the study period, from 36.6% ≤1985 to 17.1% after 2010 (P = .039

  15. Acute abdomen and ascites as presenting features of autosomal dominant polycystic kidney disease.

    Science.gov (United States)

    Chaudhary, Sanjay; Qian, Qi

    2012-12-27

    We describe a patient with sudden onset of abdominal pain and ascites, leading to the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). Her presentation was consistent with acute liver cyst rupture as the cause of her acute illness. A review of literature on polycystic liver disease in patients with ADPKD and current management strategies are presented. This case alerts physicians that ADPKD could occasionally present as an acute abdomen; cyst rupture related to ADPKD may be considered in the differential diagnoses of acute abdomen.

  16. Primary Intestinal Lymphangiectasia (Waldmann's Disease) Presenting with Chylous Effusions in a 15-Year-Old.

    Science.gov (United States)

    Surampalli, Vijay; Ramaswamy, Srinath; Surendran, Deepanjali; Bammigatti, Chanaveerappa; Swaminathan, Rathinam Palamalai

    2017-08-01

    Primary Intestinal Lymphangiectasia (PIL) is a rare disease of unknown aetiology which presents in the paediatric age group with anasarca, diarrhoea, hypoproteinaemia, lymphoedema and chylous effusions. Tuberculosis, filariasis, chest trauma, malignancies and haematological disorders usually contribute to most cases of secondary lymphangiectasia and chylous effusions. We hereby describe a case of PIL presenting with chylous effusions which remained undiagnosed for eight years.

  17. Celiac disease causing severe osteomalacia: an association still present in Morocco!

    Science.gov (United States)

    Tahiri, Latifa; Azzouzi, Hamida; Squalli, Ghita; Abourazzak, Fatimazahra; Harzy, Taoufik

    2014-01-01

    Celiac disease (CD), a malabsorption syndrome caused by hypersensitivity to gliadin fraction of gluten. CD can manifest with classic symptoms; however, significant myopathy and multiple fractures are rarely the predominant presentation of untreated celiac disease. Osteomalacia complicating celiac disease had become more and more rare. We describe here a case of osteomalacia secondary to a longstanding untreated celiac disease. This patient complained about progressive bone and muscular pain, weakness, fractures and skeletal deformities. Radiological and laboratory findings were all in favor of severe osteomalacia. Improvement of patient's weakness and laboratory abnormalities was obvious after treatment with gluten free diet, vitamin D, calcium and iron. This case affirms that chronic untreated celiac disease, can lead to an important bone loss and irreversible complications like skeletal deformities.

  18. Hypopituitarism Presenting as Adrenal Insufficiency and Hypothyroidism in a Patient with Wilson's Disease: a Case Report.

    Science.gov (United States)

    Lee, Hae Won; Kang, Jin Du; Yeo, Chang Woo; Yoon, Sung Woon; Lee, Kwang Jae; Choi, Mun Ki

    2016-08-01

    Wilson's disease typically presents symptoms associated with liver damage or neuropsychiatric disturbances, while endocrinologic abnormalities are rare. We report an unprecedented case of hypopituitarism in a patient with Wilson's disease. A 40-year-old woman presented with depression, general weakness and anorexia. Laboratory tests and imaging studies were compatible with liver cirrhosis due to Wilson's disease. Basal hormone levels and pituitary function tests indicated secondary hypothyroidism and adrenal insufficiency due to hypopituitarism. Brain MRI showed T2 hyperintense signals in both basal ganglia and midbrain but the pituitary imaging was normal. She is currently receiving chelation therapy along with thyroid hormone and steroid replacement. There may be a relationship between Wilson's disease and hypopituitarism. Copper deposition or secondary neuronal damage in the pituitary may be a possible explanation for this theory.

  19. Celiac Disease Presenting as Profound Diarrhea and Weight Loss - A Celiac Crisis.

    Science.gov (United States)

    Bul, Vadim; Sleesman, Brett; Boulay, Brian

    2016-08-05

    BACKGROUND Celiac disease is a hypersensitivity enteropathy that can have various presentations in adults. Rarely, patients can present with severe lab abnormalities, dehydration and weight loss caused by celiac disease - a celiac crisis. CASE REPORT A 46-year-old male with a past medical history significant for diabetes mellitus, type 2 (DM2) and recently treated Bell's Palsy presented to the emergency room complaining of weakness, diarrhea and lightheadedness. On presentation, the patient had a systolic blood pressure (SBP) of 60 mm Hg and a lactic acidosis with pH of 7.28. Infectious etiologies of diarrhea were ruled out. The patient had an EGD which showed erythema of the duodenal bulb. Serum anti-gliadin and anti-TTG IgA were both elevated suggesting Celiac disease. Biopsies showed histopathology consistent with celiac disease. The patient's diarrhea resolved after initiation of a gluten free diet. He gained 25 kilograms after discharge and did not require further hospitalizations for diarrhea. CONCLUSIONS Celiac crisis is a very rare presentation of celiac disease in adults but nonetheless should be considered in patients with marked metabolic derangements in the setting of osmotic diarrhea. Treatment consists of a gluten free diet and may require management with steroids and total parenteral nutrition (TPN).

  20. An 11-Year-Old Child with Autosomal Dominant Polycystic Kidney Disease Who Presented with Nephrolithiasis

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    Fatih Firinci

    2012-01-01

    Full Text Available Patients with autosomal dominant polycystic kidney disease become symptomatic and are diagnosed usually at adulthood. The rate of nephrolithiasis in these patients is 5–10 times the rate in the general population, and both anatomic and metabolic abnormalities play role in the formation of renal stones. However, nephrolithiasis is rare in childhood age group. In this paper, an 11-year-old child with autosomal dominant polycystic kidney disease presenting with nephrolithiasis is discussed.

  1. Magnetic resonance in Pelizaeus Merzbacher disease: findings in three brothers presenting the connatal variant

    International Nuclear Information System (INIS)

    Saez, J.; Perez, F.; Fuster, M.J.; Marti, L.

    1997-01-01

    Pelizaeus Merzbacher disease is a rare hereditary disorder of the white matter that is characterized by nystagmic eye movements, head shaking and severe psychomotor retardation. We report the MR findings in three brothers presenting the connatal variant of the disease, which is characterized by a diffuse increase in signal intensity on T2-weighted sequences, involving the white matter of the CNS. (Author) 10 refs

  2. A STUDY ON PATTERN OF SKIN DISEASES AMONG CHILDREN PRESENTING TO RIMS, KADAPA, A. P.

    OpenAIRE

    Vamseedhar; Masroor Ahamed; Vijaya Kumar; Rama Mohan

    2015-01-01

    BACKGROUND: Little information is available about the prevalence of skin conditions among children in the general population in India. Low socioeconomic status, malnutrition, overcrowding and poor standards of hygiene are important factors accounting for the distribut ion of skin diseases in developing countries such as India. AIM OF THE STUDY: To study prevalence of skin diseases among children presenting to paediatric OPD. METERIALS AND METHODS: A predesigned ...

  3. VARIOUS PRESENTATIONS OF HYDATID DISEASE AND THEIR MANAGEMENT : A STUDY AT RIMS, KADAPA, A. P.

    OpenAIRE

    Giridhar; Suresh Babu

    2015-01-01

    Hydatid disease most often involves the liver and lung. Actually it can involve any part of the body but primary extra hepaticopulmonary hydatid cyst are rare and their presentation is sporadic. MATERIALS AND METHODS: A retrospective study of 21 cases of hydatid disease repor ted at RIMS, Kadapa, A . P . from 2012 involving liver, spleen, peritoneal cavity, breast and soft tissues. RESULTS: All the cases are successfully operated without any complicat...

  4. Graves' disease presenting as right heart failure with severe pulmonary hypertension

    OpenAIRE

    Furqan Mohd Akram Khan; Anannya Mukherji; Shekhar T. Nabar; Ashwini G

    2016-01-01

    We report a patient who presented to our institution with clinical features of right sided heart failure and hyperthyroidism. Diagnosis of grave's disease induced reversible severe pulmonary hypertension leading to severe tricuspid regurgitation and right sided heart failure was made after all the common causes were ruled out using the biochemical and radiological investigations and review of literature. Graves disease is a common cause hyperthyroidism, is an immune system disorder that resul...

  5. Differential Diagnosis of Gynecologic Organ-Related Diseases in Women Presenting with Ascites

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    Ming-Huei Cheng

    2008-12-01

    Full Text Available Ascites is a pathologic accumulation of fluid within the peritoneal cavity, and usually develops as a result of liver disease, congestive heart failure or nephrotic syndrome. Ascites is also a common manifestation of some gynecologic diseases. It is important that health care workers consider gynecologic problems among the potential differential diagnoses in patients presenting with ascites. Various kinds of ovarian diseases, such as epithelial ovarian cancer, benign ovarian fibroma, stromal hyperplasia, ovarian hyperstimulation syndrome, primary peritoneal serous carcinoma, endometriosis and peritoneal tuberculosis, should be kept in mind when women are found to have ascites.

  6. Two faces of death: fatalities from disease and combat in America's principal wars, 1775 to present.

    Science.gov (United States)

    Cirillo, Vincent J

    2008-01-01

    Throughout America's first 145 years of war, far more of the country's military personnel perished from infectious diseases than from enemy action. This enduring feature of war was finally reversed in World War II, chiefly as a result of major medical advances in prevention (vaccines) and treatment (antibiotics). Safeguarding the health of a command is indispensable for the success of any campaign. Wars are lost by disease, which causes an enormous drain on the military's resources and affects both strategy and tactics. Disease and combat mortality data from America's principal wars (1775-present) fall into two clearly defined time periods: the Disease Era (1775-1918), during which infectious diseases were the major killer of America's armed forces, and the Trauma Era (1941-present), in which combat-related fatalities predominated. The trend established in World War II continues to the present day. Although there are currently more than 3,400 U.S. military fatalities in Iraq, the disease-death toll is so low that it is exceeded by the number of suicides.

  7. A Case of Sporadic Creutzfeldt-Jakob Disease Presenting as Conversion Disorder.

    Science.gov (United States)

    Yegya-Raman, Nikhil; Aziz, Rehan; Schneider, Daniel; Tobia, Anthony; Leitch, Megan; Nwobi, Onyi

    2017-01-01

    Background . Creutzfeldt-Jakob disease is a rare disorder of the central nervous system. Its initial diagnosis may be obscured by its variable presentation. This case report illustrates the complexity of diagnosing this disease early in the clinical course, especially when the initial symptoms may be psychiatric. It offers a brief review of the literature and reinforces a role for consultation psychiatry services. Methods . PUBMED/MEDLINE was searched using the terms "Creutzfeldt-Jakob disease", "psychiatric symptoms", "conversion disorder", "somatic symptom disorder", "functional movement disorder", and "functional neurologic disorder". Case . The patient was a 64-year-old woman with no prior psychiatric history who was initially diagnosed with conversion disorder and unspecified anxiety disorder but soon thereafter was discovered to have Creutzfeldt-Jakob disease. Discussion . This case highlights the central role of psychiatric symptoms in early presentations of Creutzfeldt-Jakob disease. Still, few other cases in the literature report functional neurological symptoms as an initial sign. The consultation psychiatrist must remain alert to changing clinical symptoms, especially with uncharacteristic disease presentations.

  8. Presentation of life-threatening invasive nontyphoidal Salmonella disease in Malawian children: A prospective observational study.

    Science.gov (United States)

    MacLennan, Calman A; Msefula, Chisomo L; Gondwe, Esther N; Gilchrist, James J; Pensulo, Paul; Mandala, Wilson L; Mwimaniwa, Grace; Banda, Meraby; Kenny, Julia; Wilson, Lorna K; Phiri, Amos; MacLennan, Jenny M; Molyneux, Elizabeth M; Molyneux, Malcolm E; Graham, Stephen M

    2017-12-01

    Nontyphoidal Salmonellae commonly cause invasive disease in African children that is often fatal. The clinical diagnosis of these infections is hampered by the absence of a clear clinical syndrome. Drug resistance means that empirical antibiotic therapy is often ineffective and currently no vaccine is available. The study objective was to identify risk factors for mortality among children presenting to hospital with invasive Salmonella disease in Africa. We conducted a prospective study enrolling consecutive children with microbiologically-confirmed invasive Salmonella disease admitted to Queen Elizabeth Central Hospital, Blantyre, in 2006. Data on clinical presentation, co-morbidities and outcome were used to identify children at risk of inpatient mortality through logistic-regression modeling. Over one calendar year, 263 consecutive children presented with invasive Salmonella disease. Median age was 16 months (range 0-15 years) and 52/256 children (20%; 95%CI 15-25%) died. Nontyphoidal serovars caused 248/263 (94%) of cases. 211/259 (81%) of isolates were multi-drug resistant. 251/263 children presented with bacteremia, 6 with meningitis and 6 with both. Respiratory symptoms were present in 184/240 (77%; 95%CI 71-82%), 123/240 (51%; 95%CI 45-58%) had gastrointestinal symptoms and 101/240 (42%; 95%CI 36-49%) had an overlapping clinical syndrome. Presentation at Salmonella disease in Malawi is characterized by high mortality and prevalence of multi-drug resistant isolates, along with non-specific presentation. Young infants, children with dyspnea and HIV-infected children bear a disproportionate burden of the Salmonella-associated mortality in Malawi. Strategies to improve prevention, diagnosis and management of invasive Salmonella disease should be targeted at these children.

  9. Carpal spasm in a girl as initial presentation of celiac disease: a case report.

    Science.gov (United States)

    Ramosaj-Morina, Atifete; Keka-Sylaj, A; Hasbahta, V; Baloku-Zejnullahu, A; Azemi, M; Zunec, R

    2017-09-04

    Celiac disease is an immune-mediated disorder elicited by ingestion of gluten in genetically susceptible persons. This disorder is characterized by specific histological changes of the small intestine mucosa resulting in malabsorption. This case was written up as it was an unusual and dramatic presentation of celiac disease. We report the case of a 3-year-old Albanian girl who presented at our clinic with carpal spasms and hand paresthesia. A physical examination at admission revealed a relatively good general condition and body weight of 10.5 kg (10 percentile). Carpal spasms and paresthesias of her extremities were present. Neuromuscular irritability was demonstrated by positive Chvostek and Trousseau signs. Blood tests showed severe hypocalcemia with a total serum calcium of 1.2 mmol/L (normal range 2.12 to 2.55 mmol/L), ionized calcium of 0.87 (normal range 1.11 to 1.30 mmol/L), and 24-hour urine calcium excretion of 9.16 mmol (normal range female celiac disease was performed: antigliadin immunoglobulin A, anti-tissue transglutaminase, and anti-endomysial immunoglobulin A antibodies were positive. A duodenal biopsy revealed lymphocyte infiltration, crypt hyperplasia, and villous atrophy compatible with celiac disease grade IIIb according to the Marsh classification. Following the diagnosis of celiac disease, human leukocyte antigen typing was performed, giving a definite diagnosis of celiac disease. She was started on a gluten-free diet. Due to failure to follow a gluten-free diet, episodes of carpal spasms appeared again. Unfortunately, at the age of 7 years she presents with delayed psychophysical development. Although hypocalcemia is a common finding in celiac disease, hypocalcemic carpal spasm is a rare initial manifestation of the disease. Therefore, the possibility of celiac disease should be considered in patients with repeated carpal spasms that seem unduly difficult to treat. This should be evaluated even in the absence of gastrointestinal

  10. Iron-deficiency anemia as a subclinical celiac disease presentation in an Argentinian population.

    Science.gov (United States)

    Lasa, J S; Olivera, P; Soifer, L; Moore, R

    There is a wide heterogeneity in the reports of celiac disease prevalence in iron-deficiency anemia patients. To determine the prevalence of celiac disease in patients with iron-deficiency anemia. Adult patients with a diagnosis of iron-deficiency anemia were enrolled for upper endoscopy with duodenal biopsies. Healthy volunteers that underwent upper endoscopy were enrolled as controls. A total of 135 patients with iron-deficiency anemia and 133 controls were enrolled. Celiac disease prevalence was higher in the iron-deficiency anemia group [11.11 vs. 1.51%, OR: 8.18 (1.83-36.55), P=.001). Of the celiac disease patients in the iron-deficiency anemia group, 73.3% had at least one endoscopic sign suggesting villous atrophy, whereas 100% of the celiac disease patients in the control group presented with at least one endoscopic sign. Patients with iron-deficiency anemia have an increased risk for celiac disease. Up to 25% of these patients may not present any endoscopic sign suggesting villous atrophy. Copyright © 2017 Asociación Mexicana de Gastroenterología. Publicado por Masson Doyma México S.A. All rights reserved.

  11. Osteomalacia associated with cutaneous psoriasis as the presenting feature of coeliac disease: a case report.

    Science.gov (United States)

    Frikha, Faten; Snoussi, Mouna; Bahloul, Zouhir

    2012-01-01

    Celiac disease (CD) is a chronic digestive disease that results in hypersensitivity to the gliadin fraction of Gluten. Malabsorption syndrome may be responsible for weight loss, diarrhea, osteomalacia, and vitamins deficiency. Herein we report a patient with coeliac disease (CD) who presented with osteomalacia and psoriasis without classical symptoms of CD. A 25-year-old North African Tunisian white woman was admitted to the hospital because of a 1-year history of bone pain, weight loss and weakness. She had cutaneous psoriasis on dermatologic examination. She had also anemia, hypocalcemia and pathological fracture. She was diagnosed to have osteomalacia on the basis of clinical, biological and radiological findings. Further investigations revealed the presence of antiglutaminase antibodies, and histopathologic findings of the duodenal biopsy were consistent with celiac disease. The patient showed a fast response to gluten-free diet, and full recovery with calcium and vitamin D replacement. Coeliac disease is frequently misdiagnosed leading to major complications such as osteolamacia. In the other hand, osteomalacia can still be the presenting feature of undiagnosed celiac disease. Association between osteomalacia and cutaneous psoriasis is rarely reported.

  12. The present and the future in the diagnosis and management of celiac disease

    Science.gov (United States)

    Castillo, Natalia E.; Theethira, Thimmaiah G.; Leffler, Daniel A.

    2015-01-01

    Celiac disease is an autoimmune enteropathy caused by gluten in genetically predisposed individuals. In celiac disease, adaptive and innate immune activation results in intestinal damage and a wide range of clinical manifestations. In the past, celiac disease was thought to result in signs and symptoms solely related to the gastrointestinal tract. Now, more than half of the adult population presents with extra-intestinal manifestations that can also be expected to improve on a gluten-free diet. For this reason, it is recommended that physicians have a low threshold of suspicion for celiac disease. Current knowledge of the immune pathogenesis of this autoimmune disease has served as a catalyst for the development of novel diagnostic tools and therapeutics. Over the years, highly sensitive and specific serological assays, in addition to genetic markers, have been found to target specific steps in the cascade pathway of celiac disease. Also the advent of the gluten challenge has enabled experts to design diagnostic algorithms and monitor clinical responses in clinical trials. The gluten challenge has provided substantial benefit in the advance of novel therapeutics as an adjuvant treatment to the gluten free diet. Generally, a strict gluten-free diet is highly burdensome to patients and can be limited in its efficacy. Alternative therapies—including gluten modification, modulation of intestinal permeability and immune response—could be central to the future treatment of celiac disease. PMID:25326000

  13. Changes in haemostasis and thrombosis associated with thyroid disease: Presentation of 2 cases.

    Science.gov (United States)

    Rodilla Fiz, A M; Garví López, M; Gómez Garrido, M; Girón la Casa, M

    2016-01-01

    There is a relationship between thyroid diseases and primary and secondary changes in haemostasis. The most frequent association between them are hypocoagulability states with clinical hypothyroidism and vascular thrombophilia (hypercoagulability and/or hypofibrinolysis) with hyperparathyroidism. However, there are recent studies that have detected changes in haemostasis -primary and secondary- associated with thyroid diseases with normal hormone levels, suggesting other pathogenic mechanisms not yet known. The cases are presented of 2 patients with thyroid disease that required surgery: one multinodular goitre and one papillary carcinoma of the thyroid, both with normal hormone levels. They were shown to have haemostasis disorders during the preoperative work up. These showed a Factor VII deficiency and a Factor XI deficiency along with a thrombotic disease of unknown origin, respectively. Copyright © 2015 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  14. Anaesthetic management of patients with congenital heart disease presenting for non-cardiac surgery.

    Directory of Open Access Journals (Sweden)

    Mohindra R

    2002-01-01

    Full Text Available The incidence of congenital heart disease is about one percent of all live births in the United States. Treatment is being performed at a younger age and these children are showing improved survival. It is not unusual for children with congenital heart disease to present for non-cardiac surgery. Their management depends on their age, type of lesion, extent of corrective procedure, the presence of complications and other congenital anomalies. Each patient needs a detailed pre-operative evaluation to understand the abnormal anatomy and physiology, and related anaesthetic implications. No anaesthetic agent is an absolute contraindication, although drugs beneficial for one lesion may be detrimental for another. Regional anaesthesia has also been safely used in children with congenital heart disease. However the anaesthesiologist must have a detailed understanding of the pathophysiology of the lesion and the pharmacology of drugs being used to be able to provide safe anaesthesia for children with congenital heart disease.

  15. Utility of testing patients, on presentation, for serologic features of celiac disease.

    Science.gov (United States)

    Srinivas, Melpakkam; Basumani, Pandurangan; Podmore, Geoff; Shrimpton, Anna; Bardhan, Karna Dev

    2014-06-01

    Celiac disease shares features of other disorders. It can be diagnosed conclusively only based on duodenal histology analysis, which is not practical for screening purposes. Serologic analysis might be used to identify candidates for biopsy analysis. We aimed to develop a simple diagnostic approach that all clinicians could follow to increase the percentage of patients accurately diagnosed with celiac disease at initial presentation. We performed a retrospective analysis of data from 752 patients (88 with celiac disease, none were IgA deficient) who attended a UK district general hospital from January 2007 through December 2008 and underwent biopsy analysis and serologic tests to measure endomyseal antibodies and IgA antibodies against tissue transglutaminase (tTG). Patients avoiding gluten in their diet were excluded. Patients were assigned to 1 of 4 groups: high-risk (based on presence of anemia, chronic diarrhea, unintentional weight loss, or dermatitis herpetiformis), low-risk (based on such factors as dyspepsia, abnormal liver function, ataxia, or chronic cough), nutrient deficiency (based on levels of iron, vitamins B12 and D, or folate), or screening (because they had type 1 diabetes or a family history of celiac disease). Patients with celiac disease were identified using the modified Marsh criteria (grades 1-3) for interpreting duodenal histology. We compared clinical category, serology profiles, and biopsy results between patients with and without celiac disease. Celiac disease was diagnosed in 64 of 565 patients in the high-risk group (11%), 14 of 156 patients in the low-risk group (9%; P = .47 compared with high-risk group), 7 of 28 patients in the nutrient-deficiency group, and 3 of 3 patients in the screening group. Among 71 patients who tested positive for both antibodies (tTG and endomyseal antibodies), the positive predictive value for celiac disease was 97%; a negative test result for tTG had a negative predictive value of 98%. Among 708 patients

  16. Clinical presentation and risk factors of inflammatory bowel disease in Sri Lanka.

    Science.gov (United States)

    Weerasekara, Deepaka; Fernando, Neluka; Meedin, F; Holton, John; Fernando, D

    2011-01-01

    There have been very few studies on inflammatory bowel disease (IBD) in Sri Lanka. This study was undertaken to determine the clinical presentation and whether a western style diet or infection with geo-helminths were associated with the condition. Three questionnaires were given to the patients: one relating to diet, one relating to clinical presentation and one relating to quality of life. The disease was confirmed endoscopically and histologically. Faeces were examined for parasites. Forty four patients were enrolled (43-ulcerative colitis; 1-Crohn's Disease). All but one had ulcerative colitis. Most had no family history of disease. The peak age of onset was 21-40 y and 63% gave a history of more than 6 months symptoms prior to diagnosis. Clinical presentation was similar to cases in western countries although milder with less severe life-events. None of them had undergone surgery. All patients ate a rice-based diet and none ate bread made of refined flour. Only 2 patient was infected with a geo-helminth. Eating bread made of refined flour is not related to development of IBD in these patients. The prevalence of geo-helminths in the study population corresponded to the general population average. Delay in diagnosis occurs because of an initial assumption that the cause of symptoms is infective. A National Register of non-infectious gastrointestinal disease would aid the epidemiology and allocation of funding to this inflammatory condition.

  17. Hydatid disease presenting as multiple cystic swelling in the right supraclavicular region

    Directory of Open Access Journals (Sweden)

    Manab Nandy

    2012-12-01

    Full Text Available Hydatid disease (Echinococcus granulosus is endemic in the Middle East as well as other parts of the world including India. Even though hydatid cysts can occur in any organ, infestation by hydatid disease in humans most commonly occurs in the liver because it acts as the first filter followed by the lung, which forms a second filter. The two organs can be affected simultaneously. After entering the systemic circulation it may be distributed in various organs including brain, orbit, parotid gland, vertebrae, bones and even palm and sole. Some other organs may also be rarely affected, but presentation as lymph node swelling in the supraclavicular region is very rare. The purpose of this paper is to emphasize the fact that supra clavicular lymph node swelling may be a presenting feature of hydatid disease, especially in endemic areas of the world.

  18. Frequency of different valvular lesions of rheumatic heart disease presenting to a tertiary care hospital

    International Nuclear Information System (INIS)

    Rehman, J.U.; Shah, I.

    2015-01-01

    Rheumatic Hearth Disease (RHD) is still prevalent in our country and a great source of morbidity. This study was done with an objective to determine relative frequency of different valvular lesions of RHD presenting in a tertiary care hospital. Methods: This cross sectional study was conducted at the Cardiology Department of Hayatabad Medical Complex, Peshawar. A total of 171 cases of RHD were included through consecutive sampling technique. Results: There were 64.33% females. Mean age was 25.6 ± 6.95 years ranging from 15 to 40 years. The different percentage of valvular lesions in RHD were MR (59.06%), MS (46.78%), AR (43.85%) and mixed lesions (38.59%). Conclusion: Rheumatic heart disease is a very common disease in our community and mitral regurgitation is a predominant lesion at presentation. Females are usually affected more than males. (author)

  19. Secondary Pulmonary Hypertension and Right-Sided Heart Failure at Presentation in Grave's Disease.

    Science.gov (United States)

    Ganeshpure, Swapnil Panjabrao; Vaidya, Gaurang Nandkishor; Gattani, Vipul

    2012-01-01

    A young female presented with evidence of right-sided heart failure and was subsequently found to have significant pulmonary artery hypertension (PAH). Because of her normal left ventricular function and pulmonary capillary wedge pressure, the most probable site of etiology seemed to be the pulmonary vasculature. All the common possible secondary causes of PAH were ruled out, but during the investigations, she was found to have elevated thyroid function tests compatible with the diagnosis of Grave's disease. The treatment of Grave's disease, initially by medications and subsequently by radioiodine therapy, was associated with a significant reduction in the pulmonary artery systolic pressure. The purpose of this case report is to highlight one of the unusual and underdiagnosed presentations of Grave's disease.

  20. Diverticular disease of the colon presenting as pyometra: a case report.

    Science.gov (United States)

    Pankaja, Susmita; Rrukaj, Astrit; Bathula, Uma

    2014-05-04

    Pyometra can be caused by various etiologies. We present a rare case of diverticular disease of the colon presenting as pyometra. This type of presentation can be challenging even for an astute clinician. A 74-year-old Caucasian woman with a history of pyometra was referred to our gynecology clinic as an urgent case. She was obese, diabetic and hypertensive. Due to the patient profile and the clinical presentation, clinicians were misled toward a diagnosis of possible endometrial cancer. After further investigations, she was found to have colouterine fistula secondary to a diverticular abscess of the sigmoid colon. Persistent vaginal discharge due to pyometra can be caused by diverticular disease of the colon. Clinicians should be aware of this important differential diagnosis.

  1. Early Motor Unit Disease Masquerading as Psychogenic Breathy Dysphonia: A Clinical Case Presentation

    Science.gov (United States)

    Aronson, Arnold E.

    1971-01-01

    Presented is a study of a 20-year-old girl with mild, breathy dysphonia, previously diagnosed as psychogenic. In actuality, her voice change was a sign of early myasthenia gravis. It is pointed out that voice changes can be a first and only sign of early neurologic disease. (Author/KW)

  2. X-Linked Lymphoproliferative Disease Presenting as Pancytopenia in a 10-Month-Old Boy

    Directory of Open Access Journals (Sweden)

    S. Nicole Chadha

    2010-01-01

    Full Text Available X-linked lymphoproliferative disease, also known as Duncan's syndrome, is a rare genetic disorder that causes exaggerated immune responses to Epstein-Barr virus (EBV infection and often leads to death. Patient presentation varies but can include signs and symptoms typical of EBV, pancytopenia, and fulminant hepatitis.

  3. Is ileoscopy with biopsy worthwhile in patients presenting with symptoms of inflammatory bowel disease?

    NARCIS (Netherlands)

    Geboes, K.; Ectors, N.; D'Haens, G.; Rutgeerts, P.

    1998-01-01

    To assess the value of adding ileoscopy with biopsy to colonoscopy, hence increasing the indications for ileoscopy in patients presenting with symptoms of inflammatory bowel disease. Two hundred fifty-seven patients with persistent diarrhea and 43 patients with sporadic colonic polyps were studied

  4. Incidental caseating granuloma of thyroid gland presenting with concomitant Graves′ disease and multifocal papillary microcarcinoma

    Directory of Open Access Journals (Sweden)

    Muneera A Al Shareef

    2013-01-01

    Full Text Available A 36-year-old Saudi woman presented with symptoms and signs of hyperthyroidism and was diagnosed to have Graves′ disease. She was initially treated with antithyroid medications with no response. Subsequently, she underwent a total thyroidectomy. The histopathology of the specimen revealed caseating granulomatous thyroid suggestive of tuberculosis and multifocal papillary thyroid microcarcinoma

  5. A case of adrenoleukodystrophy presenting with manic symptoms in a patient on steroids for Addison's disease.

    Science.gov (United States)

    Jyothi, K S; George, Cyriac; Shaji, K S

    2016-01-01

    Adrenoleukodystrophy (ALD) is an X-linked disorder with diverse clinical presentations. A 30-year-old male, previously diagnosed with Addison's disease, on steroid supplementation for 18 years, presented to us with manic symptoms for 4 years. He was found to have white matter hypodensities in computed tomography head and had white matter signal changes in magnetic resonance imaging, and therefore a diagnosis of ALD was made.

  6. Adventitial cystic disease of the common femoral vein presenting as deep vein thrombosis

    Directory of Open Access Journals (Sweden)

    Young-Kyun Kim

    2016-07-01

    Full Text Available Adventitial cystic disease of the common femoral vein is a rare condition. We herein report the case of a 50-year-old woman who presented with painless swelling in her left lower leg that resembled deep vein thrombosis. She underwent femoral exploration and excision of the cystic wall. The presentation, investigation, treatment, and pathology of this condition are discussed with a literature review.

  7. A Rare Clinical Presentation of Giant Bilateral Labial Fibroepithelial Stromal Polyps in Patient with Psoriasis Disease

    Directory of Open Access Journals (Sweden)

    Ayse Filiz Avsar

    2016-01-01

    Full Text Available Fibroepithelial polyps (FEPs are rarely seen lesions of the lower female genital tract with polypoid proliferations of stroma. These tumors usually present in the vulvovaginal region of the reproductive aged women. In this presentation, we report a case of a psoriatic woman who developed unusual multiple polypoid lesions approximately 15 cm in size arising from both left and right labia minora and unique connection of FEPs with psoriasis disease.

  8. Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Cohen, O S; Kimiagar, I; Korczyn, A D; Nitsan, Z; Appel, S; Hoffmann, C; Rosenmann, H; Kahana, E; Chapman, J

    2016-05-01

    Familial Creutzfeldt-Jakob disease (fCJD) in Jews of Libyan ancestry is caused by an E200K mutation in the PRNP gene. The typical presenting symptoms include cognitive decline, behavioral changes and gait disturbances; however, some patients may have an unusual presentation such as a stroke-like presentation, alien hand syndrome or visual disturbances. The aim of this paper is to describe uncommon presentations in our series of consecutive patients with E200K fCJD. The study group included consecutive fCJD patients followed up as part of a longitudinal prospective study ongoing since 2003 or hospitalized since 2005. The clinical diagnosis of probable CJD was based on accepted diagnostic criteria and supported by typical magnetic resonance imaging, electroencephalographic findings, elevated cerebrospinal fluid tau protein levels and by genetic testing for the E200K mutation. Disease symptoms and signs were retrieved from the medical files. The study population included 77 patients (42 men) with a mean age of disease onset of 60.6 ± 7.2 years. The most prevalent presenting symptoms were cognitive decline followed by gait impairment and behavioral changes. However, six patients had an unusual presentation including auditory agnosia, monoparesis, stroke-like presentation, facial nerve palsy, pseudobulbar syndrome and alien hand syndrome. Our case series illustrates the wide phenotypic variability of the clinical presentation of patients with fCJD and widens the clinical spectrum of the disease. A high level of clinical suspicion may prove useful in obtaining early diagnosis and therefore avoiding costly and inefficient diagnostic and therapeutic strategies. © 2016 EAN.

  9. PREVALENCE OF MEIBOMIAN GLAND DISEASE IN TYPE II DIABETIC PATIENTS & ITS CLINICAL PRESENTATIONS

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    Reshma Pathan

    2015-01-01

    Full Text Available AIMS : To study the prevalence of the meibomian gland disease in typ e 2 diabetic patients and its clinical presentations. SETTING AND DESIGN : A hospital based cross sectional descriptive study of 100 type 2 diabetic patients attending a medical college was conducted. METHODS : Detailed diabetic history was recorded. Assessment of ocular surface i.e. the lid margins , conjunctiva , corneal surface was done via slit lamp biomicroscopy. Meibomian gland disease (MGD severity was assessed by the quality and expressibility of the meibomian secretion. Dry eye tests like schir mer’s test and tear film breakup time were done. STATISTICAL ANALYSIS USED : SPSS statistical software version 17 was used. RESULTS : 56% of the patients out of 100 diabetic patients had MGD. The most common symptom was burning (46.9% , followed by dryness ( 23.5% , 5.6% had conjunctival injection , 7.14% had corneal erosions , 25% had mucus debris , 53.65% had dry eye which was statistically significant (p=0.001 , 56.25% males and 72.2% females had the disease which was not statistically significant. CONCLUSION : The prevalence of Meibomian gland disease in the diabetic population was 56% which is more than the general population prevalence. Apart from other disorders diabetics are also more prone for ocular surface diseases like Meibomian gland disease. MGD is an important pre disposer for severe diseases like Dry eye in this subgroup of patients which can lead to complications like conjunctival keratinisations , corneal erosions and perforations. Careful examination of these patients for ocular surface disease and prompt treatment is required.

  10. Quadriplegia due to celiac crisis with hypokalemia as initial presentation of celiac disease: a case report.

    Science.gov (United States)

    Bhattacharya, Malobika; Kapoor, Seema

    2012-02-01

    Celiac crisis is a rare, life-threatening complication of celiac disease characterized by worsening of clinical symptoms, multiple metabolic derangements and shock. We report an 8-year-old girl with previously undiagnosed celiac disease who presented with flaccid quadriparesis secondary to severe hypokalemia associated with celiac crisis. Diagnosis was expedited by an elevated anti-tissue transglutaminase antibody titer. The patient improved with correction of hypokalemia, corticosteroids and gluten-free diet. In tropical countries such as India, where both acute flaccid paresis and diarrhea are usually of infective etiologies, this rare clinical condition should also be considered in the differential diagnosis of both.

  11. Lyme disease presenting with facial palsy and myocarditis mimicking myocardial infarction.

    Science.gov (United States)

    Gilson, Julieta; Khalighi, Koroush; Elmi, Farhad; Krishnamurthy, Mahesh; Talebian, Amirsina; Toor, Rubinder S

    2017-01-01

    A 45-year-old woman presented with a sudden episode of typical chest pain, radiating to her neck. The patient denied premature coronary artery disease in the family. Initial EKG showed normal sinus rhythm with a 1 mm ST-elevation involving lead II and lead aVF and a 1 mm ST-depression in lead V1 with associated T-wave inversion. Initial Troponin I (normal disease. Two days later the patient developed right-sided facial palsy. Diagnosis of Lyme disease was confirmed by ELISA with positive IgM and IgG antibodies. Treatment with intravenous ceftriaxone and oral steroids was started. Eventually resolution of symptoms and, normalization of cardiac markers and EKG changes, were achieved. This is a rare case of Lyme myocarditis associated with markedly elevated Troponin I, normal left ventricle function, and an absence of conduction abnormalities. To the best of our knowledge, Lyme myocarditis mimicking acute coronary syndrome with such high levels of Troponin I and neurologic compromise has not been previously described. Lyme myocarditis may be a challenging diagnosis in endemic areas especially in patients with coronary artery disease risk factors, presenting with typical chest pain, EKG changes and positive cardiac biomarkers. Therefore, it should be considered a differential diagnosis in patients presenting with clinical symptoms suggestive of acute coronary syndrome. Abbreviations AV: Atrioventricular; CK-MB: Creatinine Kinase-MB; EKG: Electrocardiogram; ELISA: Enzyme-Linked Immunosorbent Assay; IgG: Immunoglobulin G; IgM: Immunoglobulin M.

  12. Anal Papilloma: An Exceptional Presentation of Fibrocystic Disease in Anogenital Mammary-Like Glands

    Directory of Open Access Journals (Sweden)

    Priya Subashchandrabose

    2015-01-01

    Full Text Available Previously ectopic breast tissue was thought to be derived from the caudal remnants of the primitive embryonic milk ridges; anogenital mammary-like glands are presently considered as normal constituents of the anogenital region. We report a case of young female, who presented with an anal papilloma. Histopathological examination revealed extensive fibrocystic changes in anogenital mammary-like glands. To date, a lot of benign changes and a wide range of benign and malignant neoplasms have been reported in these glands. However, extensive fibrocystic change of these glands in anal region is very rare. In addition, fibrocystic disease of anal mammary glands, masquerading clinically as an anal papilloma, has not been reported in literature. Hence, it is essential for clinicians and the pathologists to be aware of such a rare presentation. The features of fibrocystic disease in perianal region are also discussed.

  13. Anal Papilloma: An Exceptional Presentation of Fibrocystic Disease in Anogenital Mammary-Like Glands.

    Science.gov (United States)

    Subashchandrabose, Priya; Esakkai, Muthuvel; Venugopal, Palani; Kannaiyan, Ilavarasan; Srinivasan, Chitra; Reddy, Punuru Tejashwini; Ebenezer, Evelyn Elizabeth

    2015-01-01

    Previously ectopic breast tissue was thought to be derived from the caudal remnants of the primitive embryonic milk ridges; anogenital mammary-like glands are presently considered as normal constituents of the anogenital region. We report a case of young female, who presented with an anal papilloma. Histopathological examination revealed extensive fibrocystic changes in anogenital mammary-like glands. To date, a lot of benign changes and a wide range of benign and malignant neoplasms have been reported in these glands. However, extensive fibrocystic change of these glands in anal region is very rare. In addition, fibrocystic disease of anal mammary glands, masquerading clinically as an anal papilloma, has not been reported in literature. Hence, it is essential for clinicians and the pathologists to be aware of such a rare presentation. The features of fibrocystic disease in perianal region are also discussed.

  14. Obesity in adolescents with celiac disease: two adolescents and two different presentations.

    Science.gov (United States)

    Balamtekin, Necati; Demir, Hülya; Baysoy, Gökhan; Uslu, Nuray; Yüce, Aysel

    2011-01-01

    Celiac disease (CD) usually presents with diarrhea and growth retardation in childhood. Obesity is one of the paradoxical conditions in children with CD. We present two adolescents with CD and obesity. One of these patients was diagnosed as CD with malnutrition. His body weight had returned to normal after a gluten-free diet, and after stopping the diet, he had become obese. The second patient was an obese adolescent presenting with dyspeptic symptoms who was diagnosed as CD. Although rare, pediatricians should remember that obesity might be seen in CD before or after the diagnosis.

  15. Unusual Presentation of Uncommon Disease: Anorexia Nervosa Presenting as Wernicke-Korsakoff Syndrome—A Case Report from Southeast Asia

    OpenAIRE

    Mushtaq, Raheel; Shoib, Sheikh; Shah, Tabindah; Bhat, Mudasir; Singh, Randhir; Mushtaq, Sahil

    2014-01-01

    Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa...

  16. Oligometastatic disease at presentation or recurrence for nonsmall cell lung cancer.

    Science.gov (United States)

    Gomez, Daniel R; Niibe, Yuzuru; Chang, Joe Y

    2012-01-01

    Oligometastatic Non-Small Cell Lung Cancer (NSCLC) presents a unique opportunity for potential curative therapy. Improved cancer staging using PET/CT, MRI, and future cellular and molecular staging with circulating tumor cells and/or molecular markers will identify more patients with truly oligometastasis disease that will benefit from definitive local treatment. Recent development of noninvasive local ablative therapy such as stereotactic radiotherapy makes it possible to eradicate multiple local diseases with minimal side effect. Novel systemic therapy may also control systemic spread and therefore make it possible to improve survival by eliminating local diseases. More research, particularly prospective studies, is ideally randomized studies are needed to validate the concept of oligometastasis.

  17. Oligometastatic Disease at Presentation or Recurrence for Nonsmall Cell Lung Cancer

    Directory of Open Access Journals (Sweden)

    Daniel R. Gomez

    2012-01-01

    Full Text Available Oligometastatic Non-Small Cell Lung Cancer (NSCLC presents a unique opportunity for potential curative therapy. Improved cancer staging using PET/CT, MRI, and future cellular and molecular staging with circulating tumor cells and/or molecular markers will identify more patients with truly oligometastasis disease that will benefit from definitive local treatment. Recent development of noninvasive local ablative therapy such as stereotactic radiotherapy makes it possible to eradicate multiple local diseases with minimal side effect. Novel systemic therapy may also control systemic spread and therefore make it possible to improve survival by eliminating local diseases. More research, particularly prospective studies, is ideally randomized studies are needed to validate the concept of oligometastasis.

  18. An Unusual Presentation of Isolated Leptomeningeal Disease in Carcinoma of Unknown Primary With Pancreatic Features

    Directory of Open Access Journals (Sweden)

    Madhurima Anne MD

    2013-06-01

    Full Text Available Leptomeningeal disease (LMD can occur in a small percentage of patients with active metastatic cancer. However, we report a case of LMD occurring during disease remission in a patient with carcinoma of unknown primary with panreaticobiliary features. A 45-year-old woman was found with mediastinal and abdominal lymphadenopathy with lymph node biopsy consistent with adenocarcinoma, expressing immunomarkers CK7, CK20, and Ca19-9 along with markedly elevated serum Ca19-9 level. The patient was started on a pancreatic cancer directed chemotherapy regimen of Folfirinox (5-fluorouracil, leucovorin, oxaliplatin, irinotecan and achieved complete response. She was then noted to have slowly rising Ca19-9 level that did not correlate with her lack of evidence of systemic disease progression. Eventually, she presented with neurologic symptoms and was found on imaging to have isolated LMD.

  19. Thyroid Autoantibodies and the Clinical Presentation of Moyamoya Disease: A Prospective Study.

    Science.gov (United States)

    Lanterna, Luigi A; Galliani, Silvia; Zangari, Rosalia; Conti, Luciano; Brembilla, Carlo; Gritti, Paolo; Colleoni, Maria Luisa; Bernucci, Claudio

    2018-05-01

    Moyamoya is a rare cerebrovascular disease characterized by the progressive occlusion of the intracranial carotid artery. Thyroid autoantibodies have been found to be associated with the disease, but their clinical significance has never been studied. The objective of this study was to investigate the relationship between thyroid autoantibodies and the clinical presentation of moyamoya. This is a prospective study including 37 patients with moyamoya disease (MMD) or unilateral moyamoya (uMM). Thyroid function and thyroid autoantibodies (e.g., antithyroperoxidase and antithyroglobulin) were investigated. We studied the effect of gender, age, type of moyamoya (uMM versus MMD), and thyroid autoantibodies on the clinical presentation, dichotomized into aggressive (hemorrhage, major stroke, or frequent transient ischemic attack [TIA]) and nonaggressive presentation (headache, rare TIAs, and incidental diagnosis) according to the criteria of the Research Committee on Spontaneous Occlusion of the Circle of Willis. Of the 37 patients included in the study, the autoantibodies were elevated in 9 (24.3%). An aggressive presentation occurred in 21 patients (hemorrhage in 11, major stroke in 9, frequent TIAs in 1). The autoantibodies were elevated in 8 of the 21 patients (38.09%) with an aggressive presentation and in 1 of those presenting with minor symptoms (6.2%). The presence of elevated autoantibodies was the only variable associated with an aggressive presentation in the multivariate logistic analysis (P = .048). When the serum concentration of the thyroid autoantibodies is increased, the patients have a higher risk of an aggressive presentation. Our results support the hypothesis that activation of immune-mediated processes affects the moyamoya physiopathology. Copyright © 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  20. IgG4-Related Kidney Disease: Report of a Case Presenting as a Renal Mass

    Directory of Open Access Journals (Sweden)

    Daniele Bianchi

    2017-01-01

    Full Text Available IgG4-related disease (IgG4-RD is a nosological entity defined as a chronic immune-mediated fibro-inflammatory condition characterized by a tendency to form tumefactive, tissue-destructive lesions or by organ failure. Urologic involvement in IgG4-RD has been described in some short series of patients and in isolated case reports, most often involving the kidneys in so-called IgG4-related kidney disease (IgG4-RKD. The disease can occasionally mimic malignancies and is at risk of being misdiagnosed due to its rarity. We report the case of a 56-year-old man presenting with a right renal mass suspected of being malignant. Laboratory tests showed normal creatinine levels, a high erythrocyte sedimentation rate, and high levels of C-reactive protein and microalbuminuria. The patient underwent radical right nephroureterectomy and histopathologic examination revealed features proving IgG4-RKD. He was therefore referred to immunologists. Typical clinical presentation of IgG4-RKD includes altered renal function with inconstant or no radiologic findings. Conversely, in the case we presented, a single nodule was detected upon imaging evaluation, thus mimicking malignancy. This raises the issue of a proper differential diagnosis. A multidisciplinary approach can be useful, although in clinical practice the selection of patients suspected of having IgG4-RKD is critical in the cases presenting with a renal mass that mimics malignancy.

  1. Creutzfeldt-Jakob Disease Presenting as Expressive Aphasia and Nonconvulsive Status Epilepticus

    Directory of Open Access Journals (Sweden)

    Hafiz B. Mahboob

    2018-01-01

    Full Text Available Creutzfeldt-Jakob disease (CJD, the most common form of human prion diseases, is a fatal condition with a mortality rate reaching 85% within one year of clinical presentation. CJD is characterized by rapidly progressive neurological deterioration in combination with typical electroencephalography (EEG and magnetic resonance imaging (MRI findings and positive cerebrospinal spinal fluid (CSF analysis for 14-3-3 proteins. Unfortunately, CJD can have atypical clinical and radiological presentation in approximately 10% of cases, thus making the diagnosis often challenging. We report a rare clinical presentation of sporadic CJD (sCJD with combination of both expressive aphasia and nonconvulsive status epilepticus. This patient presented with slurred speech, confusion, myoclonus, headaches, and vertigo and succumbed to his disease within ten weeks of initial onset of his symptoms. He had a normal initial diagnostic workup, but subsequent workup initiated due to persistent clinical deterioration revealed CJD with typical MRI, EEG, and CSF findings. Other causes of rapidly progressive dementia and encephalopathy were ruled out. Though a rare condition, we recommend consideration of CJD on patients with expressive aphasia, progressive unexplained neurocognitive decline, and refractory epileptiform activity seen on EEG. Frequent reimaging (MRI, video EEGs and CSF examination might help diagnose this fatal condition earlier.

  2. Unusual Presentation of Uncommon Disease: Anorexia Nervosa Presenting as Wernicke-Korsakoff Syndrome—A Case Report from Southeast Asia

    Directory of Open Access Journals (Sweden)

    Raheel Mushtaq

    2014-01-01

    Full Text Available Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa by mental health professionals can prevent development of Wernicke-Korsakoff syndrome.

  3. Unusual presentation of uncommon disease: anorexia nervosa presenting as wernicke-korsakoff syndrome-a case report from southeast Asia.

    Science.gov (United States)

    Mushtaq, Raheel; Shoib, Sheikh; Shah, Tabindah; Bhat, Mudasir; Singh, Randhir; Mushtaq, Sahil

    2014-01-01

    Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa by mental health professionals can prevent development of Wernicke-Korsakoff syndrome.

  4. Unusual Presentation of Uncommon Disease: Anorexia Nervosa Presenting as Wernicke-Korsakoff Syndrome—A Case Report from Southeast Asia

    Science.gov (United States)

    Mushtaq, Raheel; Shah, Tabindah; Bhat, Mudasir; Mushtaq, Sahil

    2014-01-01

    Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa by mental health professionals can prevent development of Wernicke-Korsakoff syndrome. PMID:24963430

  5. An uncommon presentation of Kikuchi Fujimoto disease: a case report with literature review.

    Science.gov (United States)

    Ranabhat, Sabin; Tiwari, Mamta; Kshetri, Jiwan; Maharjan, Sushna; Osti, Bidur Prasad

    2015-09-26

    Kikuchi-Fujimoto disease is so named because Kikuchi and Fujimoto were the first scientists to describe it in Japan in 1972. Although the disease has been reported from all over the world and more so from Asia, it is rare. To date only eight cases have been reported from Nepal. Cervical lymphadenopathy, fever and raised Erythrocyte Sedimentation Rate are usual presenting features of this disease. We describe a case which presented with thrombocytopenia and axillary lymphadenopathy in addition to the usual features. Out of the total eight cases that have been reported from Nepal so far, no patients had thrombocytopenia and only one patient had axillary lymphadenopathy. A 24-year-old Nepali female presented with a 3-week history of low-grade fever, headache, and painful, discrete, unilateral left-sided cervical and axillary lymphadenopathy. Among the multitude of tests that were carried out, Erythrocyte Sedimentation Rate was raised and there was thrombocytopenia while other tests were normal. Painful lymphadenopathy pointed to bacterial lymphadenitis while chronic low-grade fever suggested tuberculosis. A cervical lymph node was excised for histopathological examination to reach an accurate diagnosis. On the basis of pathognomonic features viz., paracortical foci composed of various types of histiocytes including crescentic type in the background of abundant apoptotic karyorrhectic debris, a diagnosis of Kikuchi-Fujimoto disease was made. On follow-up evaluation after 6 weeks, the patient had no systemic symptoms, enlarged lymph nodes had regressed in size significantly, and Erythrocyte Sedimentation Rate and platelet count had become normal. Kikuchi-Fujimoto disease should be kept in the differential diagnosis of lymphadenopathy in young patients, female or male even in tuberculosis-endemic countries and even in patients who have unusual features; for example thrombocytopenia and involvement of axillary lymph nodes in addition to cervical lymph nodes as in this

  6. Intravascular Large B-Cell Lymphoma Presenting as Interstitial Lung Disease

    Directory of Open Access Journals (Sweden)

    Elham Vali Khojeini

    2014-01-01

    Full Text Available Intravascular large B-cell lymphoma (IVLBL is a rare subtype of diffuse large B-cell lymphoma that resides in the lumen of blood vessels. Patients typically present with nonspecific findings, particularly bizarre neurologic symptoms, fever, and skin lesions. A woman presented with shortness of breath and a chest CT scan showed diffuse interstitial thickening and ground glass opacities suggestive of an interstitial lung disease. On physical exam she was noted to have splenomegaly. The patient died and at autopsy was found to have an IVLBL in her lungs as well as nearly all her organs that were sampled. Although rare, IVLBL should be included in the differential diagnosis of interstitial lung disease and this case underscores the importance of the continuation of autopsies.

  7. Recognition and Clinical Presentation of Invasive Fungal Disease in Neonates and Children.

    Science.gov (United States)

    King, Jill; Pana, Zoi-Dorothea; Lehrnbecher, Thomas; Steinbach, William J; Warris, Adilia

    2017-09-01

    Invasive fungal diseases (IFDs) are devastating opportunistic infections that result in significant morbidity and death in a broad range of pediatric patients, particularly those with a compromised immune system. Recognizing them can be difficult, because nonspecific clinical signs and symptoms or isolated fever are frequently the only presenting features. Therefore, a high index of clinical suspicion is necessary in patients at increased risk of IFD, which requires knowledge of the pediatric patient population at risk, additional predisposing factors within this population, and the clinical signs and symptoms of IFD. With this review, we aim to summarize current knowledge regarding the recognition and clinical presentation of IFD in neonates and children. © The Author 2017. Published by Oxford University Press on behalf of The Journal of the Pediatric Infectious Diseases Society.

  8. Castleman's disease presenting as a pleural tumor: a case report with CT findings.

    Science.gov (United States)

    Doo, Kyung Won; Kim, Bomi

    2018-02-01

    Castleman's disease (CD) is an uncommon benign lymphoproliferative disorder which most commonly involves the mediastinum but rarely affects the pleura. We report a case of unicentric CD that presents as a pleural mass in a 45-year-old man, which was subsequently resected followed by an unexpected diagnosis on histologic examination. Although rare, CD should be included in the differential diagnosis of well-enhancing pleural mass.

  9. Isolated short stature as a presentation of celiac disease in Saudi children

    Directory of Open Access Journals (Sweden)

    Asaad Mohamed Assiri

    2010-06-01

    Full Text Available The aim of this study is to assess the prevalence of isolated short stature as a clinical presentation of celiac disease in Saudi Arab children and whether some of the routine labora-tory tests performed to determine the cause of short stature could suggest the diagnosis of celiac disease. A total of 91 children with short stature were included in the study. Extensive endocrine and biochemical assessments, including total protein, serum albumin, calcium phosphate and alkaline phosphatase assays; renal function tests; coagulation profile; anti-endomysial antibodies and anti-tissue transglutaminase antibody, growth hormone, thyroid stimulating hormone, free-thyroxin (FT4 assays; stool tests for giardiasis; bone age; and endoscopic intestinal biopsies, were done for all children. Ten of the 91 children had positive intestinal biopsies in the form of total villous atrophy, an increase in crypt height, and an increase in intra-epithelial lymphocyte (IEL numbers up to >40 IEL/100 EC (Type 3C according to the Oberhuber classification, confirming the diagnosis of celiac disease. Five children had mild villous atrophy according to this classification (Type 3A, and they were considered to have potential celiac disease. Seventy-six children had normal intestinal biopsies. Therefore, the prevalence of celiac disease among Saudi children with short stature was 10.9%, and 4.3% of the children were diagnosed as having potential celiac disease. After confirming the diagnosis of celiac disease, all children were kept on a gluten-free diet and all of them showed improvement in their growth rate. We concluded that celiac disease is a very important cause of short stature in children without gastrointestinal complaints in Saudi Arabia. We highly recommend anti-tissue transglutaminase and anti-endomysial antibody screening tests, and a small bowel biopsy to confirm the diagnosis of celiac disease irrespective of the results of the antibody assays, in children with

  10. Proctitis as the clinical presentation of lymphogranuloma venereum, a re-emerging disease in developed countries

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    Jorge López-Vicente

    2014-01-01

    Full Text Available Lymphogranuloma venereum (LGV is a sexually transmitted infectious disease caused by serovars L1, L2 and L3 of Chlamydia trachomatis. The initial presentation is usually a painless ulcerated papule on the genitalia or distal proctitis. The progression of the infection can lead to major complications: rectal strictures, intestinal obstruction or perforation. We present five cases of LGV proctitis as the initial presentation of the disease. All patients were male, mean age 44.6 years, with positive serology to human immunodeficiency virus (HIV and promiscuous men who have sex with men (MSM. The initial diagnosis was made by rectosigmoidoscopy indicated for pain and anal discharge. All cases were confirmed by polymerase chain reaction technique in rectal tissue. Endoscopic images obtained showed a great variety of rectal lesions, from mild erythema of the mucosa and ulcers to deep ulcers with elevated borders and purulent exudate. All cases were resolved after treatment with doxycycline for 3 weeks. It emphasizes the importance of suspecting this re-emerging disease in patients with risk factors (HIV and MSM, with the aim of early treatment and to avoid major complications.

  11. Proctitis as the clinical presentation of lymphogranuloma venereum, a re-emerging disease in developed countries.

    Science.gov (United States)

    López-Vicente, Jorge; Rodríguez-Alcalde, Daniel; Hernández-Villalba, Luis; Moreno-Sánchez, Diego; Lumbreras-Cabrera, Mercedes; Barros-Aguado, Carlos; Galán, Juan Carlos

    2014-01-01

    Lymphogranuloma venereum (LGV) is a sexually transmitted infectious disease caused by serovars L1, L2 and L3 of Chlamydia trachomatis. The initial presentation is usually a painless ulcerated papule on the genitalia or distal proctitis. The progression of the infection can lead to major complications: rectal strictures, intestinal obstruction or perforation. We present five cases of LGV proctitis as the initial presentation of the disease. All patients were male, mean age 44.6 years, with positive serology to human immunodeficiency virus (HIV) and promiscuous men who have sex with men (MSM).The initial diagnosis was made by rectosigmoidoscopy indicated for pain and anal discharge. All cases were confirmed by polymerase chain reaction technique in rectal tissue. Endoscopic images obtained showed a great variety of rectal lesions, from mild erythema of the mucosa and ulcers to deep ulcers with elevated borders and purulent exudate. All cases were resolved after treatment with doxycycline for 3 weeks. It emphasizes the importance of suspecting this re-emerging disease in patients with risk factors (HIV and MSM), with the aim of early treatment and to avoid major complications.

  12. Polyarteritis nodosa presenting as peripheral vascular disease and acute limb ischemia

    Directory of Open Access Journals (Sweden)

    A Shukla

    2017-01-01

    Full Text Available Acute limb ischemia and peripheral vascular disease (PVD are unusual presentations of polyarteritis nodosa (PAN. Here, we present a case with PVD of both lower limbs leading to foot claudication. Digital subtraction angiography showed narrowing, irregularity, and occlusion of both lower limb arteries with no involvement of the abdomen visceral arteries. Based on significant weight loss, diastolic blood pressure >90 mmHg, myalgia, testicular pain, and angiographic abnormalities in medium-sized arteries, he was diagnosed as having PAN. He was treated with corticosteroid and bolus intravenous cyclophosphamide following which he had prompt and near-complete recovery of the symptoms without any tissue loss.

  13. Atypical presentation of multicentric Castleman disease in a pediatric patient: pleural and pericardial effusion.

    Science.gov (United States)

    Akman, Alkim Oden; Basaran, Ozge; Ozyoruk, Derya; Han, Unsal; Sayli, Tulin; Cakar, Nilgun

    2016-06-01

    Castleman disease (CD) is a rare poorly understood lymphoproliferative disorder. Pediatric onset CD has been reported before. However, most of them have benign unicentric pattern. Multicentric CD (MCD) is quite rare in children. Herein, we report a 13-year-old adolescent boy with MCD of the hyaline vascular variant presenting with pleural and pericardial effusion, which is an uncommon presentation. MCD should be considered in the differential diagnosis of pleural and/or pericardial effusion with unexplained lymph nodes in children. What is Known •Pediatric Castleman disease (CD) most commonly occurs in the unicentric form, which typically is asymptomatic and cured by lymph node excision. •The diagnosis of MCD can be difficult owing to the heterogeneity of presentation and potential for nonspecific multisystem involvement. What is New •A 13-year-old adolescent boy was diagnosed with MCD of the hyaline vascular variant presenting with pleural and pericardial effusion, which is an uncommon presentation. •In a pediatric patient with fever, pleural-pericardial effusion and multiple lymph nodes, MCD should be considered in differantial diagnosis.

  14. The presentation of rickets to orthopaedic clinics: return of the English disease.

    Science.gov (United States)

    Naseem, Haris; Wall, Alun P; Sangster, Marshall; Paton, Robin W

    2011-04-01

    Rickets is a potentially treatable disease of the bone that is most commonly due to deficiency of vitamin D and is increasing in incidence in developed countries. Risk factors include dietary factors, the practice of covering up and darker skin pigmentation. This small retrospective case study set out to examine all cases of rickets presenting to the Paediatric Orthopaedic clinic over a 15-month period. Rickets presented in a bimodal fashion in the 6 cases identified: in males and females aged 3 or less and female adolescents aged 10 and above. This is in keeping with what is known regarding the rapid phases of growth during development. Five cases were from ethnic minority groups. Both female adolescents presented with genu valgum. Rickets can present primarily to Orthopaedic clinics with vague musculoskeletal symptoms. We recommend that biochemical screening be performed on patients from ethnic minorities who may be 'at risk'.

  15. Wegener’s granulomatosis mimicking inflammatory bowel disease and presenting with chronic enteritis

    Directory of Open Access Journals (Sweden)

    Shahedi K

    2013-10-01

    Full Text Available Kamyar Shahedi,1,2 Ramy Magdy Hanna,1,2 Oleg Melamed,1,2 James Wilson2,31Department of Medicine Olive-View UCLA Medical Center, Sylmar, CA, 2David Geffen School of Medicine at UCLA, Los Angeles, CA, 3UCLA Medical Center-UCLA Stone Center, Los Angeles, CA, USAAbstract: Wegener’s granulomatosis, also known as anti-neutrophil cytoplasmic antibody (ANCA-associated vasculitis, is a small vessel vasculitis with primarily pulmonary, renal, and sinus disease manifestations. The prevalence of Wegener’s granulomatosis is three cases per 100,000 patients. Cardiovascular, neurologic, cutaneous, and joint manifestations have been reported in many case reports and case series. Gastrointestinal manifestations are less noted in Wegener’s granulomatosis, although they have been previously reported in the form of intestinal perforation and intestinal ischemia. Additionally, there are characteristic findings of vasculitis that are noted with active Wegener’s granulomatosis of the small bowel. We report a case of an elderly patient who presented with weight loss, diarrhea, and hematochezia. His symptoms were chronic and had lasted for more than 1 year before diagnosis. Inflammatory bowel disease or chronic enteritis due to Salmonella arizonae because of reptile exposure originally were suspected as etiologies of his presentation. The findings of proteinuria, renal failure, and pauci-immune glomerulonephritis on renal biopsy, in conjunction with an elevated c-ANCA titer, confirmed the diagnosis of Wegener’s granulomatosis with associated intestinal vasculitis. This case demonstrates an atypical presentation of chronic duodenitis and jejunitis secondary to Wegener’s granulomatosis, which mimicked inflammatory bowel disease.Keywords: ANCA-associated vasculitis, Wegener’s syndrome, pauci-immune glomerulonephritis, Salmonella arizonae, inflammatory bowel disease

  16. Addison's disease presenting with idiopathic intracranial hypertension in 24-year-old woman: a case report

    Directory of Open Access Journals (Sweden)

    Moore Peter

    2010-02-01

    Full Text Available Abstract Introduction Idiopathic intracranial hypertension can rarely be associated with an underlying endocrine disorder such as Cushing's syndrome, hyperthyroidism, or with administration of thyroxine or growth hormone. Though cases of idiopathic intracranial hypertension associated with Addison's disease in children have been reported, there is only one documented case report of this association in adults. We describe a case of an acute adrenal insufficiency precipitated by idiopathic intracranial hypertension in a Caucasian female. Case presentation A 24-year-old Caucasian woman was acutely unwell with a background of several months of generalised fatigue and intermittent headaches. She had unremarkable neurological and systemic examination with a normal computerised tomography and magnetic resonance imaging of the brain. Normal cerebrospinal fluid but increased opening pressure at lumbar puncture suggested intracranial hypertension. A flat short synacthen test and raised level of adrenocorticotrophic hormone were consistent with primary adrenal failure. Conclusion Addison's disease can remain unrecognised until precipitated by acute stress. This case suggests that idiopathic intracranial hypertension can rarely be associated with Addison's disease and present as an acute illness. Idiopathic intracranial hypertension is possibly related to an increase in the levels of arginine vasopressin peptide in serum and cerebrospinal fluid secondary to a glucocorticoid deficient state.

  17. Large Cell Neuroendocrine Carcinoma of the Rectum Presenting with Extensive Metastatic Disease

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    Vinay Minocha

    2014-01-01

    Full Text Available Introduction. Rectal large cell neuroendocrine carcinoma (LCNEC is a poorly differentiated neoplasm that is very rare and belongs within the poorest prognostic subgroup among primary colorectal neoplasms. Here, we describe a case of LCNEC of the rectum, which highlights the aggressive clinical course and poor prognosis associated with this disease. Case Presentation. We report a case of a 63-year-old male who presented to our hospital with a one-month history of lower abdominal pain, constipation, and weight loss. A computed tomography (CT scan of the chest, abdomen, and pelvis revealed a rectal mass as well as metastatic disease of the liver and lung. Flexible sigmoidoscopy revealed a fungating, ulcerated and partially obstructing rectal mass located 6 cm from the anal verge. This mass was biopsied and pathological examination of the resected specimen revealed features consistent with a large cell neuroendocrine carcinoma. Conclusion. Rectal large cell neuroendocrine carcinomas are rare and have a significantly worse prognosis than adenocarcinomas. At diagnosis, a higher stage and metastatic disease are likely to be found. It is important to differentiate large cell, poorly differentiated neuroendocrine carcinomas from adenocarcinomas of the colon and rectum pathologically because patients may benefit from alternative cytotoxic chemotherapeutic regimens.

  18. A Case Report of Cushing’s Disease Presenting as Hair Loss

    Directory of Open Access Journals (Sweden)

    Emily G. Lefkowitz

    2017-02-01

    Full Text Available Cushing’s syndrome is a rare endocrine disorder that comprises a large group of signs and symptoms resulting from chronic exposure to excess corticosteroids. Most cases of Cushing’s syndrome are due to increased adrenocorticotropic hormone production from a pituitary adenoma, which is referred to as Cushing’s disease. Most of the signs and symptoms are nonspecific and common in the general population, making a diagnosis often challenging. However, several dermatological manifestations, such as fragile skin, easy bruising, and reddish purple striae, are more discriminatory. Because uncontrolled Cushing’s syndrome of any etiology is associated with substantial morbidity, including increased cardiovascular disease and mortality, it is important to make an early diagnosis. Unfortunately, median delays of 2 years to diagnosis have been reported. We report a case of a woman who had multiple dermatological findings, including facial plethora, easy bruising, violaceous striae, hirsutism, and acne, the latter 2 signs reflecting androgen excess. Of interest, our patient presented with a chief complaint of hair loss, a common complaint in the general population that occurs with a greater frequency in patients with Cushing’s disease and is attributed to androgenetic alopecia, but it is rarely the presenting symptom.

  19. Disease flare of ankylosing spondylitis presenting as reactive arthritis with seropositivity: a case report

    Directory of Open Access Journals (Sweden)

    Manoj EM

    2012-02-01

    Full Text Available Abstract Introduction Concurrent rheumatoid factor seropositivity is occasionally detected in ankylosing spondylitis and often causes confusion in clinical routine. Overlap between various seronegative arthritides is a known but uncommon association. Differentiation of spondyloarthropathy from rheumatoid arthritis is important, since the natural history, complications, treatments and prognosis of the two diseases differ significantly. Case presentation Here, we report the case of a 47-year-old Sri Lankan man who had a long history of intermittent joint pains worsening following a recent episode of self-resolving non-bloody diarrhea. Subsequently, he developed a skin rash suggestive of keratoderma blenorrhagica and circinate balanitis. He had classical radiological evidence of ankylosing spondylosis (previously undiagnosed associated with human leukocyte antigen B27 antigen, but was positive for rheumatoid factor. Conclusions A disease flare of ankylosing spondylitis prompted by a minor diarrheal illness showing well documented features of reactive arthritis is remarkable. The prognostic implications of seropositivity in spondyloarthritis are discussed.

  20. First presentation of Addison's disease as hyperkalaemia in acute kidney injury.

    Science.gov (United States)

    Maki, Sara; Kramarz, Caroline; Maria Heister, Paula; Pasha, Kamran

    2016-05-11

    Addison's disease is a rare endocrine disorder that frequently presents with non-specific symptoms, but may deteriorate rapidly into life-threatening Addisonian crisis if left untreated. Diagnosis can be difficult in patients without a suggestive medical history. We describe a case of a 37-year-old man who was admitted with acute kidney injury and hyperkalaemia, resistant to treatment with insulin/dextrose and calcium gluconate. On clinical examination, he was found to be hyperpigmented; a subsequent random serum cortisol of 49 nmol/L affirmed the preliminary diagnosis of Addison's disease. The patient's hyperkalaemia improved on treatment with hydrocortisone, and a follow-up morning adrenocorticotropic hormone of 1051 ng/L confirmed the diagnosis. 2016 BMJ Publishing Group Ltd.

  1. Graphospasm - clinical presentation, etiology and the course of disease: Analysis of 30 cases

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    Kačar Aleksandra

    2004-01-01

    Full Text Available INTRODUCTION Dystonia, as prolonged, involuntary muscle contraction, causes torsion, repetitive movements and abnormal body position. In so far only a part of body is affected by dystonic movement, it is the question of focal dystonia, which is called writer's cramp if the arm is involved. OBJECTIVE The objective of the study was to present the specific clinical features of patients with task-specific dystonia, who were diagnosed, treated and followed up at the Institute of Neurology, Clinical Center of Serbia, Belgrade. MATERIAL AND METHODS In the period 1995-2003, 30 patients with task-specific dystonia were treated at the Institute of Neurology, CCS, who met the adopted criteria for diagnosis. The severity of the diseases was tested by estimating the ability of patient to write the test sentence per time unit, as well as by means of scale for measuring different disabilities, ranging from 0-16 (Marsden-Fahn. Depression, anxiety and obsessiveness were tested by Beck's scale, Hamilton's depression and anxiety scale and Mousdly's obsessiveness scale. Thorough questionnaire focused on clinical details was also used. Besides descriptive statistics, data processing included analysis of variance and Kruskal-Wallis's test. RESULTS Thirty patients with diagnosis of task-specific dystonia were analyzed. At the onset of the disease, mean-age was 34.1 years (SD=11.4; 13-58, while the duration of disease at the moment of the examination was 10.3 years (SD=10.6; 1-39. There were 20 males and 10 females (sex ratio 2:1. None of the patients reported any history of trauma of subsequently affected region before the development of discomforts. Twelve patients used their hands for a long time during their professions (writing, playing the instrument, type-writing, etc.. Eight patients were typists (26.6%, four were musicians (13.3%, while the rest of cases (18 had some other occupations that did not necessarily imply long-term use of hands (office worker

  2. A systematic review and meta-analysis of Hirschsprung's disease presenting after childhood.

    LENUS (Irish Health Repository)

    Doodnath, Reshma

    2012-02-01

    BACKGROUND: Hirschsprung\\'s disease (HD) is characterised by an absence of ganglion cells in the distal bowel, beginning at the internal sphincter and extending proximally to varying distances. It is usually diagnosed in the newborn period, with usual presentation of delayed passage of meconium and abdominal distension, with or without bilious vomiting. HD in adults is rare and is thus often undiagnosed or misdiagnosed. The purpose of this meta-analysis was to review the presentation, treatment and clinical outcome of HD presenting after childhood. METHODS: A systematic review and meta-analysis of all cases of HD presenting after childhood in the English literature was performed from 1950 to 2009. Detailed information regarding demographics, clinical presentation and methods of diagnosis, surgical procedure, complications and the outcome at time of follow up was recorded. RESULTS: There were 490 cases of HD presenting after childhood in the English literature, 341 (69.5%) males, 129 (26.4%) females and 20 (4.1%) cases where gender was not specified. As much as 390 (79.6%) were confined to the rectum, 60 (12.3%) had recto-sigmoid disease, 4 (0.8%) had disease extending to the descending colon and there were 2 (0.4%) cases that extended to the transverse colon and 2 (0.4%) cases of total colonic disease. The extent of disease was not specified in the remaining 32 (6.5%) cases. A total of 49 (10%) patients had the Swenson procedure, 231 (47.2%) patients had the Duhamel procedure, 40 (8.2%) patients had the Soave procedure, 45 (9.2%) patients had a myectomy only, 3 (0.6%) patients had a myectomy combined with colectomy, 14 (2.9%) patients had a myectomy combined with anterior resection. As much as 26 (5.3%) patients had a lower anterior resection (LAR), 28 (5.7%) patients had LAR combined with colectomy, 10 (2%) patients had a colectomy, 1 (0.2%) patient had an anopexy and 4 (0.9%) patients had a colostomy only. A total of 13 (2.7%) patients refused surgery and

  3. Clinical Presentation Resembling Mucosal Disease Associated with 'HoBi'-like Pestivirus in a Field Outbreak.

    Science.gov (United States)

    Weber, M N; Mósena, A C S; Simões, S V D; Almeida, L L; Pessoa, C R M; Budaszewski, R F; Silva, T R; Ridpath, J F; Riet-Correa, F; Driemeier, D; Canal, C W

    2016-02-01

    The genus Pestivirus of the family Flaviviridae consists of four recognized species: Bovine viral diarrhoea virus 1 (BVDV-1), Bovine viral diarrhoea virus 2 (BVDV-2), Classical swine fever virus (CSFV) and Border disease virus (BDV). Recently, atypical pestiviruses ('HoBi'-like pestiviruses) were identified in batches of contaminated foetal calf serum and in naturally infected cattle with and without clinical symptoms. Here, we describe the first report of a mucosal disease-like clinical presentation (MD) associated with a 'HoBi'-like pestivirus occurring in a cattle herd. The outbreak was investigated using immunohistochemistry, antibody detection, viral isolation and RT-PCR. The sequence and phylogenetic analysis of 5'NCR, N(pro) and E2 regions of the RT-PCR positive samples showed that four different 'HoBi'-like strains were circulating in the herd. The main clinical signs and lesions were observed in the respiratory and digestive systems, but skin lesions and corneal opacity were also observed. MD characteristic lesions and a pestivirus with cytopathic biotype were detected in one calf. The present study is the first report of a MD like presentation associated with natural infection with 'HoBi'-like pestivirus. This report describes the clinical signs and provides a pathologic framework of an outbreak associated with at least two different 'HoBi'-like strains. Based on these observations, it appears that these atypical pestiviruses are most likely underdiagnosed in Brazilian cattle. © 2014 Blackwell Verlag GmbH.

  4. Small cell lung cancer presenting as dermatomyositis: mistaken for single connective tissue disease.

    Science.gov (United States)

    Chao, Guanqun; Fang, Lizheng; Lu, Chongrong; Chen, Zhouwen

    2012-06-01

    Dermatomyositis (DM) is well-known to be associated with several types of malignancy. This case emphasizes the importance of a thorough examination for an underlying cancer, in patients with the symptoms of dermatomyositis. We report the case of a 62-year-old Chinese man who presented with a two-month history of edema of face and neck, together with erythema of the eyelids diagnosed of small cell lung cancer. Initially, it was thought to be single connective tissue disease such as DM. This study highlights the importance of a thorough physical examination when visiting a patient.

  5. Von-Willebrand Disease Presenting as Intractable Epistaxis after Nasal Polypectomy

    Directory of Open Access Journals (Sweden)

    Jeong Jin Park

    2014-01-01

    Full Text Available Von-Willebrand disease (VWD is one of the platelet dysfunction disorders that results from a deficiency of Von-Willebrand factor, which is essential for hemostasis. VWD patients typically have normal laboratory results on screening for bleeding disorders. To suspect and diagnose VWD, a careful review of past medical history and laboratory tests is critical. A 59-year-old male patient presented with intractable nasal bleeding after nasal polypectomy. The bleeding was controlled by platelet transfusion, and he was later diagnosed with VWD.

  6. Clinical presentation and biochemical findings children with glycogen storage disease type 1A

    International Nuclear Information System (INIS)

    Saeed, A.; Suleman, H.; Arshad, H.

    2015-01-01

    To determine the clinical pattern of presentation and biochemical characteristics of glycogen storage disease (GSD) type 1a in children at a tertiary referral centre. Study Design: Descriptive/ cross sectional study. Place and Duration of Study: Department of Pediatric, division of Gastroenterology and Hepatology of the Children's hospital, Lahore over a period of 11 years. Patients and Methods: Confirmed cases of glycogen storage disease (clinical plus biochemical findings consistent with GSD 1a and proven on liver biopsy) were enrolled in this study from neonatal age till 18 years. Data was retrieved from files and electronic record for these cases. Diagnosis was made on the basis of history, clinical findings including hepatomegaly, hypertriglyceridemia, hypercholesterolemia, hypoglycemia and hyperuricemia (if present). Diagnosis was confirmed on liver biopsy. Patients with other storage disorders and benign and malignant tumours were excluded from the study. Results: Total patients included in the study were 360 with male to female ratio of 1.25:1. Median age at the time of diagnosis was 25.6 months (age range from one month to 18 years). Most common presentation was abdominal distension (83%) followed by failure to thrive (69%) and recurrent wheezing and diarrhoea (44%) each. Seizures were present in only 1/3rd of children. Other presentations included vomiting, respiratory distress, altered sensorium, nephrocalcinosis, epistaxis and hypothyroidism. Few patients around 11% presented with acute hepatitis and later were diagnosed as GSD. Significant hepatomegaly was evident in almost all patients but nephromegaly was present in only 5.5% patients. All children had marked hypertriglyceridemia but cholesterol levels were raised in 1/3rd of children. A large majority of children had deranged ALT more than 2 times of normal and around 38% children had marked anemia. Significant hypoglycemia and metabolic acidosis was documented in around 1/3rd of children

  7. Kawasaki steam power plant of Tokyo Electric Power Co. and an example of geothermal power generation

    Energy Technology Data Exchange (ETDEWEB)

    1961-01-01

    The first part of this discussion is devoted to a description of the Kawasaki steam power plant, installed by Tokyo Electric Co. to supply electricity to the Keihin industrial area. The output is 700 MW and it possesses a thermal efficiency of 36.9%. The plant is operated automatically by remote control. The latter section describes the status of a geothermal power station in Hakone. It outlines the steam distribution piping, the steam itself, the turbine and vapor/water separation equipment. With regard to technical problems, it is suggested that old wells having weak pressure can be restored by self-cleaning and that further improvement can be brought about by dynamiting the base of the borehole.

  8. Review of epidemiology, clinical presentation, diagnosis, and treatment of common primary psychiatric causes of cutaneous disease.

    Science.gov (United States)

    Krooks, J A; Weatherall, A G; Holland, P J

    2018-06-01

    Approximately half of all patients presenting to dermatologists exhibit signs and symptoms of psychiatric conditions that are either primary or secondary to cutaneous disease. Because patients typically resist psychiatric consult, dermatologists often are on the front line in evaluating and treating these patients. Accordingly, distinguishing the specific underlying or resulting psychiatric condition is essential for effective treatment. The etiology, epidemiology, clinical presentation, diagnosis, and first-line treatment of specific primary psychiatric causes of dermatologic conditions, including delusional infestation, Morgellons syndrome, olfactory reference syndrome, body dysmorphic disorder, excoriation disorder, trichotillomania, and dermatitis artefacta are discussed here, followed by a discussion of the recommended treatment approach with an overview of the different first-line therapies discussed in this review, specifically cognitive behavioral therapy, atypical antipsychotics, selective serotonin reuptake inhibitors, and tricyclic antidepressants. Included is a guide for dermatologists to use while prescribing these medications.

  9. McArdle's Disease Presenting as Unexplained Dyspnea in a Young Woman

    Directory of Open Access Journals (Sweden)

    Nha Voduc

    2004-01-01

    Full Text Available McArdle's disease is a rare, inherited deficiency of myophosphorylase, an enzyme required for the utilization of glycogen. Patients with myophosphorylase deficiency classically present with exercise intolerance, leg pain and muscle fatigue. The case of a young woman with exertional dyspnea and leg cramps is described. Exercise testing confirmed the presence of exercise intolerance and demonstrated an accelerated heart rate response, despite the absence of an anaerobic threshold and a respiratory exchange ratio of less than 1.0. Subsequent ischemic forearm testing and muscle biopsy confirmed the diagnosis of myophosphorylase deficiency. Evaluation of lung mechanics with esophageal pressure measurements demonstrated the presence of respiratory muscle weakness and early fatiguability, suggesting that the patient's dyspnea might have been attributable to an increased respiratory effort. Dyspnea is not a classic symptom associated with myophosphorylase deficiency, although subclinical respiratory muscle impairment may be present. No previous studies have evaluated respiratory muscle function during exercise in patients with myophosphorylase deficiency.

  10. Risk Factors in the Initial Presentation of Specific Cardiovascular Disease Syndromes

    Science.gov (United States)

    2013-03-03

    Heart Diseases; Cardiovascular Diseases; Acute Myocardial Infarction; Unstable Angina; Chronic Stable Angina; Ischemic Stroke; Cerebrovascular Accident; Subarachnoid Hemorrhage; Transient Ischemic Attack; Abdominal Aortic Aneurysm; Peripheral Arterial Disease; Sudden Coronary Death; Ventricular Arrhythmia; Sudden Death; Cardiac Arrest; Heart Failure

  11. Extra-esophageal presentation of gastroesophageal reflux disease: new understanding in a new era.

    Science.gov (United States)

    Martinucci, Irene; Albano, Eleonora; Marchi, Santino; Blandizzi, Corrado

    2017-09-01

    Associations of gastroesophageal reflux disease (GERD) with extraesophageal manifestations, such as chronic cough, asthma, and laryngitis, are reported frequently, and there is a strong evidence of biological plausibility in support of this relationship. On the other hand, extraesophageal reflux disease (EERD) is usually multifactorial in nature with reflux being just one of the several potential contributing cofactors. Moreover, the accuracy of currently available diagnostic tests for EERD is suboptimal, and therefore the causal relationship between GERD and EERD remains far from being conclusively proven. In addition, there is a general paucity of data supporting a beneficial effect of anti-reflux treatments on symptoms of patients with suspected EERD. Therefore, diagnostic as well as therapeutic management of EERD remains largely empirical. Current guidelines suggest an initial empiric trial of proton pump inhibitors in patients without alarm features, who present also typical GERD symptoms. For those patients who improve with PPIs, GERD is presumed to be the etiology. In patients with refractory reflux, combined impedance/pH monitoring might provide the single best strategy for evaluating reflux symptoms. In this context, as symptoms ascribable to GERD may depend on other causes, investigations that excludes GERD can help to redirect the diagnostic and treatment efforts to other pathological conditions. The present review intends to discuss the current state of knowledge regarding the challenging diagnostic and therapeutic management of patients with suspected EERD, emphasizing the points of strengths and limitations of currently available diagnostic options, and to provide an update on major diagnostic innovations in this area.

  12. Can therapy dogs evoke awareness of one's past and present life in persons with Alzheimer's disease?

    Science.gov (United States)

    Swall, Anna; Ebbeskog, Britt; Lundh Hagelin, Carina; Fagerberg, Ingegerd

    2015-06-01

    Persons with Alzheimer's disease (AD) sometimes express themselves through behaviours that are difficult to manage for themselves and their caregivers, and to minimise these symptoms alternative methods are recommended. For some time now, animals have been introduced in different ways into the environment of persons with dementia. Animal-Assisted Therapy (AAT) includes prescribed therapy dogs visiting the person with dementia for a specific purpose. This study aims to illuminate the meaning of the lived experience of encounters with a therapy dog for persons with Alzheimer's disease. Video recorded sessions were conducted for each visit of the dog and its handler to a person with AD (10 times/person). The observations have a life-world approach and were transcribed and analysed using a phenomenological hermeneutical approach. The result shows a main theme 'Being aware of one's past and present existence', meaning to connect with one's senses and memories and to reflect upon these with the dog. The time spent with the dog shows the person recounting memories and feelings, and enables an opportunity to reach the person on a cognitive level. The present study may contribute to health care research and provide knowledge about the use of trained therapy dogs in the care of older persons with AD in a way that might increase quality of life and well-being in persons with dementia. The study might be useful for caregivers and dog handlers in the care of older persons with dementia. © 2014 John Wiley & Sons Ltd.

  13. Quantifying structural alterations in Alzheimer's disease brains using quantitative phase imaging (Conference Presentation)

    Science.gov (United States)

    Lee, Moosung; Lee, Eeksung; Jung, JaeHwang; Yu, Hyeonseung; Kim, Kyoohyun; Yoon, Jonghee; Lee, Shinhwa; Jeong, Yong; Park, YongKeun

    2017-02-01

    Imaging brain tissues is an essential part of neuroscience because understanding brain structure provides relevant information about brain functions and alterations associated with diseases. Magnetic resonance imaging and positron emission tomography exemplify conventional brain imaging tools, but these techniques suffer from low spatial resolution around 100 μm. As a complementary method, histopathology has been utilized with the development of optical microscopy. The traditional method provides the structural information about biological tissues to cellular scales, but relies on labor-intensive staining procedures. With the advances of illumination sources, label-free imaging techniques based on nonlinear interactions, such as multiphoton excitations and Raman scattering, have been applied to molecule-specific histopathology. Nevertheless, these techniques provide limited qualitative information and require a pulsed laser, which is difficult to use for pathologists with no laser training. Here, we present a label-free optical imaging of mouse brain tissues for addressing structural alteration in Alzheimer's disease. To achieve the mesoscopic, unlabeled tissue images with high contrast and sub-micrometer lateral resolution, we employed holographic microscopy and an automated scanning platform. From the acquired hologram of the brain tissues, we could retrieve scattering coefficients and anisotropies according to the modified scattering-phase theorem. This label-free imaging technique enabled direct access to structural information throughout the tissues with a sub-micrometer lateral resolution and presented a unique means to investigate the structural changes in the optical properties of biological tissues.

  14. Short term outcome of varus derotation osteotomy in late presenting perthes disease

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    Narendra Joshi

    2018-01-01

    Full Text Available Background: Untreated Perthes disease can lead to osteoarthritis by the fourth decade. The treatment is conservative for children 10 years of age at presentation. All patients had limitation of abduction and internal rotation. Eight patients (53.33% had pain at the hip and 12 patients (80% had limp. Mean time between diagnosis and corrective surgery was 3 weeks. Results: The evaluation was done using caput index (CI and epiphyseal quotient (EQ and articulotrochanteric distance radiologically, range of motion and Harris Hip Score for clinical outcome. All the measurements were carried out on pre- and postoperative X-rays after 3 years followup and compared with the contralateral normal hip. After a mean followup period of 3.4 years, we noted the statistically significant difference between pre- and postoperative values. We noted that all (100% children in Stage IB, IIA and 50% children in Stage IIB achieved satisfactory results. There was a significant change (P = 0.000 in CI among all the patients after surgery. The final EQ after 3 years of VDRO was 0.606 and was significant (P = 0.0000. Conclusion: In our opinion, based on the encouraging short term radiological and clinical outcomes, VDRO may be regarded as a treatment procedure for late presenting Perthes disease in stage IB, IIA, IIB.

  15. Gastrointestinal and non-gastrointestinal presentation in patients with celiac disease.

    Science.gov (United States)

    Ehsani-Ardakani, Mohammad Javad; Rostami Nejad, Mohammad; Villanacci, Vincenzo; Volta, Umberto; Manenti, Stefania; Caio, Giacomo; Giovenali, Paolo; Becheanu, Gabriel; Diculescu, Mircea; Pellegrino, Salvatore; Magazzù, Giuseppe; Casella, Giovanni; Di Bella, Camillo; Decarli, Nicola; Biancalani, Mauro; Bassotti, Gabrio; Hogg-Kollars, Sabine; Zali, Mohammad Reza; Rostami, Kamran

    2013-02-01

    Celiac disease (CD) may have a variety of different presentations. This study has aimed to explore the prevalence of gastrointestinal (GI) and non-GI symptoms in patients with CD according to data collected in Italy and Romania (Europe) and Iran (Middle East). This is a retrospective cross-sectional study conducted in Iran, Romania and Italy with data collection during the period from May 2009 - May 2011. For each center we included only patients with CD that was confirmed by endoscopy, small bowel biopsies and positive serology. GI symptoms such as abdominal pain, diarrhea, constipation, nausea and vomiting, weight loss and flatulence, as well as additional signs and symptoms of iron deficiency anemia (IDA), osteoporosis, hypertransaminasemia, and other related abnormalities were collected. Overall, 323 women and 127 men, whose mean age at diagnosis was 34.2 ± 16.47 years were included in this study. Of these, 157 subjects (34.9%) reported at least one GI symptom. The majority of cases had the following primary presenting GI symptoms: diarrhea (13.6%), dyspepsia and constipation (4.0%). Other disease symptoms were reported by 168 (37.3%) patients. The most presenting non-GI symptoms in the majority of cases were anemia (20.7%) and osteopenia (6%). There were statistically significant differences between the majority of symptoms when we compared the reported clinical symptoms from different countries. This study indicated that upper abdominal disorders such as abdominal pain and dyspepsia were the most common primary complaints among European patients, whereas Iranian patients had complaints of diarrhea and bloating as the classic presentations of CD. For non-GI symptoms, anemia was the most frequent complaint for both Iranian and Italian patients; however it was significantly higher in Iranians.

  16. Contrast enema findings in patients presenting with poor functional outcome after primary repair for Hirschsprung disease.

    Science.gov (United States)

    Garrett, Kevin M; Levitt, Marc A; Peña, Alberto; Kraus, Steven J

    2012-09-01

    The radiologic evaluation of Hirschsprung disease is well described in the literature. However, there is a paucity of literature describing the appearance of the neo-rectum and colon after repair, specifically describing findings in patients with poor functional outcome, which would suggest the need for reoperation. We describe findings on contrast enema and correlate them with surgical findings at reoperation in children with poor functional outcome after primary repair for Hirschsprung disease who suffer from bowel dysfunction that can manifest with either soiling or obstructive symptoms such as enterocolitis. Children were identified from our colorectal surgery database. At the time of abstract submission, 35 children had contrast enemas prior to reoperation. Additional children continue to present for evaluation. The majority of children included in the study had their primary repair performed elsewhere. The initial procedures included: Duhamel (n = 11), Soave (n = 20) or Swenson (n = 3). One child had undergone a primary Soave repair and subsequently had a Swenson-type reoperation but continued to have a poor outcome. One child's initial surgical repair could not be determined. Images were reviewed by a staff pediatric radiologist and a pediatric radiology fellow. Findings encountered on contrast enema in these children include a distal narrowed segment due to stricture or aganglionic/transitional zone segment (8), dilated/hypomotile distal segment (7), thickened presacral space due to compressing Soave cuff (11), dilated Duhamel pouch (8), active enterocolitis (3) and partially obstructing twist of the pull-through segment (1). Multiple anatomical and pathological complications exist that can lead to bowel dysfunction in children after repair of Hirschsprung disease. Little recent literature exists regarding the radiographic findings in children. We had the opportunity to review a substantial series of these children, describe the contrast enema

  17. Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

    Science.gov (United States)

    Jacobsen, Jessie C; Wilson, Callum; Cunningham, Vicki; Glamuzina, Emma; Prosser, Debra O; Love, Donald R; Burgess, Trent; Taylor, Juliet; Swan, Brendan; Hill, Rosamund; Robertson, Stephen P; Snell, Russell G; Lehnert, Klaus

    2016-03-01

    Two male siblings from a consanguineous union presented in early infancy with marked truncal hypotonia, a general paucity of movement, extrapyramidal signs and cognitive delay. By mid-childhood they had made little developmental progress and remained severely hypotonic and bradykinetic. They developed epilepsy and had problems with autonomic dysfunction and oculogyric crises. They had a number of orthopaedic problems secondary to their hypotonia. Cerebrospinal fluid (CSF) neurotransmitters were initially normal, apart from mildly elevated 5-hydroxyindolacetic acid, and the children did not respond favourably to a trial of levodopa-carbidopa. The youngest died from respiratory complications at 10 years of age. Repeat CSF neurotransmitters in the older sibling at eight years of age showed slightly low homovanillic acid and 5-hydroxyindoleacetic acid levels. Whole-exome sequencing revealed a novel mutation homozygous in both children in the monoamine transporter gene SLC18A2 (p.Pro237His), resulting in brain dopamine-serotonin vesicular transport disease. This is the second family to be described with a mutation in this gene. Treatment with the dopamine agonist pramipexole in the surviving child resulted in mild improvements in alertness, communication, and eye movements. This case supports the identification of the causal mutation in the original case, expands the clinical phenotype of brain dopamine-serotonin vesicular transport disease and confirms that pramipexole treatment may lead to symptomatic improvement in affected individuals.

  18. Cat-scratch disease presenting as multiple hepatic lesions: case report and literature review.

    Science.gov (United States)

    Baptista, Mariana Andrade; Lo, Denise Swei; Hein, Noely; Hirose, Maki; Yoshioka, Cristina Ryoka Miyao; Ragazzi, Selma Lopes Betta; Gilio, Alfredo Elias; Ferronato, Angela Esposito

    2014-01-01

    Although infectious diseases are the most prevalent cause of fevers of unknown origin (FUO), this diagnosis remains challenging in some pediatric patients. Imaging exams, such as computed tomography (CT) are frequently required during the diagnostic processes. The presence of multiple hypoattenuating scattered images throughout the liver associated with the history of cohabitation with cats should raise the suspicion of the diagnosis of cat-scratch disease (CSD), although the main etiologic agent of liver abscesses in childhood is S taphylococcus aureus . Differential diagnosis by clinical and epidemiological data with Bartonella henselae is often advisable. The authors report the case of a boy aged 2 years and 9 months with 16-day history of daily fever accompanied by intermittent abdominal pain. Physical examination was unremarkable. Abdominal ultrasound performed in the initial work up was unrevealing, but an abdominal CT that was performed afterwards disclosed multiple hypoattenuating hepatic images compatible with the diagnosis of micro abscesses. Initial antibiotic regimen included cefotaxime, metronidazole, and oxacillin. Due to the epidemiology of close contact with kittens, diagnosis of CSD was considered and confirmed by serologic tests. Therefore, the initial antibiotics were replaced by clarithromycin orally for 14 days followed by fever defervescence and clinical improvement. The authors call attention to this uncommon diagnosis in a child presenting with FUO and multiple hepatic images suggestive of micro abscesses.

  19. Cat-scratch disease presenting as multiple hepatic lesions: case report and literature review

    Directory of Open Access Journals (Sweden)

    Mariana Andrade Baptista

    2014-06-01

    Full Text Available Although infectious diseases are the most prevalent cause of fevers of unknown origin (FUO, this diagnosis remains challenging in some pediatric patients. Imaging exams, such as computed tomography (CT are frequently required during the diagnostic processes. The presence of multiple hypoattenuating scattered images throughout the liver associated with the history of cohabitation with cats should raise the suspicion of the diagnosis of cat-scratch disease (CSD, although the main etiologic agent of liver abscesses in childhood is Staphylococcus aureus. Differential diagnosis by clinical and epidemiological data with Bartonella henselae is often advisable. The authors report the case of a boy aged 2 years and 9 months with 16-day history of daily fever accompanied by intermittent abdominal pain. Physical examination was unremarkable. Abdominal ultrasound performed in the initial work up was unrevealing, but an abdominal CT that was performed afterwards disclosed multiple hypoattenuating hepatic images compatible with the diagnosis of micro abscesses. Initial antibiotic regimen included cefotaxime, metronidazole, and oxacillin. Due to the epidemiology of close contact with kittens, diagnosis of CSD was considered and confirmed by serologic tests. Therefore, the initial antibiotics were replaced by clarithromycin orally for 14 days followed by fever defervescence and clinical improvement. The authors call attention to this uncommon diagnosis in a child presenting with FUO and multiple hepatic images suggestive of micro abscesses.

  20. Inflammatory bowel disease is presenting sooner after immigration in more recent US immigrants from Cuba.

    Science.gov (United States)

    Damas, O M; Avalos, D J; Palacio, A M; Gomez, L; Quintero, M A; Deshpande, A R; Sussman, D A; McCauley, J L; Lopez, J; Schwartz, S J; Abreu, M T

    2017-08-01

    Despite a rising incidence of inflammatory bowel disease (IBD) in Hispanics in the United States, there are no studies examining the relationship between immigrant generation and IBD onset among Hispanics. To determine whether age of IBD diagnosis, time from immigration to IBD diagnosis and IBD phenotype, differed across immigration periods in South Florida Cuban immigrants. This was a cohort of consecutively identified Cuban-born adults who developed IBD in the United States and were followed in gastroenterology (GI) clinic. We divided time cohorts of immigration by historical relevance: before 1980, 1980-1994 and 1995-to-present. We examined differences across time cohorts in diagnosis age, time from immigration to IBD diagnosis, and IBD phenotype (ie, IBD type, disease location). A total of 130 Cuban patients with IBD were included. Age of IBD diagnosis was older in Cubans arriving before 1980 than in those arriving between 1980-1994 or after 1995 (44.7 vs 33.79 and 33.71, respectively, Pimmigration and diagnosis was shorter in patients arriving to the US after 1980 (31.77 years, Standard deviation (SD) 12.83 (immigration in Cubans, suggesting that environmental changes either in the United States, Cuba or both are resulting in faster IBD onset in younger immigrant generations. These studies can inform the search for environmental triggers that may result in IBD. © 2017 John Wiley & Sons Ltd.

  1. IgG4-Related Disease Presenting as Recurrent Mastoiditis With Central Nervous System Involvement

    Directory of Open Access Journals (Sweden)

    April L. Barnado MD

    2013-09-01

    Full Text Available We report a case of a 43-year-old female who presented with right ear fullness and otorrhea. She was initially diagnosed with mastoiditis that was not responsive to multiple courses of antibiotics and steroids. She was then diagnosed with refractory inflammatory pseudotumor, and subsequent treatments included several mastoidectomies, further steroids, and radiation therapy. The patient went on to develop mastoiditis on the contralateral side as well as central nervous system involvement with headaches and right-sided facial paresthesias. Reexamination of the mastoid tissue revealed a significantly increased number of IgG4-positive cells, suggesting a diagnosis of IgG4-related disease. The patient improved clinically and radiographically with rituximab and was able to taper off azathioprine and prednisone. IgG4-related disease should be considered in patients with otologic symptoms and be on the differential diagnosis in patients with inflammatory pseudotumor. Staining for IgG and IgG4 is essential to ensure a prompt diagnosis and treatment.

  2. Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future

    Directory of Open Access Journals (Sweden)

    Jovanka King

    2017-08-01

    Full Text Available Primary immunodeficiency diseases (PID are a heterogeneous group of disorders caused by inborn errors of immunity, with affected children presenting with severe, recurrent or unusual infections. Over 300 distinct genetic molecular abnormalities resulting in PID have been identified, and this number continues to rise. Newborn screening for PID has been established in many countries, with the majority of centers using a PCR-based T cell receptor excision circle (TREC assay to screen for severe combined immunodeficiency (SCID and other forms of T cell lymphopenia. Multiplexed screening including quantitation of kappa-recombining exclusion circles (KREC has also been described, offering advantages over TREC screening alone. Screening technologies are also expanding to include protein-based assays to identify complement deficiencies and granulocyte disorders. Given the rapid advances in genomic medicine, a potential future direction is the application of next-generation sequencing (NGS technologies to screen infants for a panel of genetic mutations, which would enable identification of a wide range of diseases. However, several ethical and economic issues must be considered before moving towards this screening strategy.

  3. An Unusual Presentation of Plasma Cells – Castleman Disease: A Case Report

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    Mihăilă Mariana

    2016-06-01

    Full Text Available We present the case of a 76 year old female patient admitted in the Department of Cardiology for physical asthenia, profuse sweating and dyspnea with orthopnea for about one month. Clinical and paraclinical assessments performed at admission confirmed the diagnosis of cardiac tamponade. Surgical intervention was performed and 400 mL of clear effusion were drained. Post-operative evolution was marked by recurrence of symptoms, requiring after 3 weeks a new drainage of 600 mL of clear effusion, and biopsy of the pericardium was performed. Pathological exam described serous pericarditis with chronic inflammatory infiltrate, xanthogranulomatous reaction intricated in the pericardium and mesothelial hyperplasia. The patient was subsequently transferred to the Department of Internal Medicine for further investigations. Physical examination showed a patient with altered general status, pallor, vesicular murmur absent in both bases, presenting cutaneous hyperpigmentation at the level of the right hemi-abdomen and hip with posterior extension, and a peripheral indurated erythematous plaque. The patient presented nodular masses of 3 cm in the right latero-cervical and bilateral axillary regions, non-adherent to the superficial structures, as well as adenopathic blocks in both inguinal regions. CT scan of the thorax and abdomen showed moderate bilateral pleuresia, minimal pericardial effusion (15 mm and multiple adenopathies on both sides of the diaphragm. Skin biopsy was performed, as well as bone marrow aspirate and excision of a right axillary lymph node. Pathological exams and immunohistochemistry tests confirmed the diagnosis of Plasma Cells Castleman disease.

  4. An Unusual Presentation of Plasma Cells - Castleman Disease: A Case Report.

    Science.gov (United States)

    Mihăilă, Mariana; Herlea, V; Dobrea, Camelia; Lupescu, Ioana; Munteanu, Gina Rusu; Chiriac, Grethi; Micu, L; Serescu, R; Copaci, I

    2016-01-01

    We present the case of a 76 year old female patient admitted in the Department of Cardiology for physical asthenia, profuse sweating and dyspnea with orthopnea for about one month. Clinical and paraclinical assessments performed at admission confirmed the diagnosis of cardiac tamponade. Surgical intervention was performed and 400 mL of clear effusion were drained. Post-operative evolution was marked by recurrence of symptoms, requiring after 3 weeks a new drainage of 600 mL of clear effusion, and biopsy of the pericardium was performed. Pathological exam described serous pericarditis with chronic inflammatory infiltrate, xanthogranulomatous reaction intricated in the pericardium and mesothelial hyperplasia. The patient was subsequently transferred to the Department of Internal Medicine for further investigations. Physical examination showed a patient with altered general status, pallor, vesicular murmur absent in both bases, presenting cutaneous hyperpigmentation at the level of the right hemi-abdomen and hip with posterior extension, and a peripheral indurated erythematous plaque. The patient presented nodular masses of 3 cm in the right latero-cervical and bilateral axillary regions, non-adherent to the superficial structures, as well as adenopathic blocks in both inguinal regions. CT scan of the thorax and abdomen showed moderate bilateral pleuresia, minimal pericardial effusion (15 mm) and multiple adenopathies on both sides of the diaphragm. Skin biopsy was performed, as well as bone marrow aspirate and excision of a right axillary lymph node. Pathological exams and immunohistochemistry tests confirmed the diagnosis of Plasma Cells Castleman disease.

  5. Present status of doctors' awareness for radiation-induced carotid artery disease in Japan

    International Nuclear Information System (INIS)

    Taguchi, Yoshiharu; Takashima, Shutaro; Tanaka, Kortaro

    2013-01-01

    Radiation-induced carotid artery disease (RCAD) often develops in patients who have received neck radiotherapy for the treatment of various malignant tumors. However, the doctors who ordered or performed neck radiotherapy seem to pay little attention to RCAD which may subsequently occur, and the present status of the awareness in these doctors for RCAD is unclear in Japan. Therefore, we conducted a questionnaire survey of the present status of these doctors' awareness for RCAD. A questionnaire form regarding the recognition of RCAD was sent to 368 departments of otolaryngology, oral surgery, or radiology of university hospitals in Japan. Responses to the questionnaire were received from 213 of the 368 departments of otolaryngology, oral surgery or radiology of university hospitals (response collection rate: 57.9%). One hundred and sixty-one departments (75.9%) were aware of the existence of RCAD, but only 20 departments (9.4%) conducted regular examinations for RCAD after neck radiotherapy such as ultrasound neck echography and MR angiography. Only 6.3% departments took preventive measures for RCAD such as reduction in radiation dose or administration of antiplatelets. The present survey revealed that many patients who had undergone neck radiotherapy for the treatment of malignancy did not receive proper medical attention for RCAD in Japan. Healthcare providers should be given adequate education about RCAD including its risk factors, possible preventive measures, diagnostic modalities, and treatment. Furthermore, a systematic clinical network should be established in which stroke specialists conduct proper examinations for early diagnosis of RCAD. (author)

  6. Genetic Alzheimer Disease and Sporadic Dementia With Lewy Bodies: A Comorbidity Presenting as Primary Progressive Aphasia.

    Science.gov (United States)

    Picková, Tereza; Matěj, Radoslav; Bezdicek, Ondrej; Keller, Jiří; van der Zee, Julie; Van Broeckhoven, Christine; Cséfalvay, Zsolt; Rusina, Robert

    2017-03-01

    We report a 44-year-old woman, with a family history of early-onset dementia, presenting with primary progressive aphasia. This clinically variable syndrome has multiple underlying pathologies, and correlations between clinical manifestations and postmortem neuropathologic findings are controversial. Our patient suffered worsening language impairment with major word-finding difficulties but preserved comprehension. She also developed episodic memory impairment. Her condition progressed to dementia with behavioral changes. Magnetic resonance imaging showed early left perisylvian and bitemporal atrophy. The patient died shortly afterward from colon cancer. Neuropathologic examination revealed advanced early-onset Alzheimer and Lewy body disease, plus a clinically nonrelevant metastasis of her colon cancer in her left parietal lobe. Genetic examination revealed a p.Glu184Asp mutation in the presenilin1 gene. Our findings confirm the importance of a thorough appreciation for the clinical and neuropathologic correlations in patients with atypical neurodegenerative dementias.

  7. Wilson’s disease presenting with HELLP syndrome; A case report

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    Sümeyra Nergiz Avcıoğlu

    2015-03-01

    Full Text Available Wilson’s disease (WD is an autosomal recessive disorder. It is characterized by toxic accumulation of copper mainly in the liver and brain but also in cornea and kidney due to a defect in biliary excretion of copper. The hepatic manifestation of WD is diverse and may include asymptomatic elevation of aminotransferase, chronic hepatitis, cirrhosis, or acute/fulminant hepatic failure. Characteristic of acute hepatic failure in WD is concomitance of acute intravascular hemolytic anemia. Acute intravascular hemolytic anemia and thrombocytopenia in WD may be interpreted as a feature of Hemolysis, Elevated Liver Enzymes, Low Platelet Count (HELLP syndrome besides acute liver failure. The differential diagnosis may be very difficult. Here, WD in pregnancy presenting with clinical symptoms of HELLP syndrome and developing acute liver failure in postpartum period is discussed.

  8. In situ follicular neoplasia/lymphoma: Three illustrative cases exemplifying unique disease presentations

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    Uma Sakhadeo

    2012-01-01

    Full Text Available We report three elderly patients with follicular lymphoma in situ (FLIS each highlighting a unique pattern of disease presentation and progression. The first patient had incidentally detected FLIS with peripheral blood spill and yet had an 11-year uneventful follow up. The second patient with an overt follicular lymphoma (FL developed high-grade transformation in jejunum with FLIS extensively involving the Payers patches. The third patient had a FLIS but that qualified as higher grade and was treated in spite of lack of overt FL mainly because of higher grade and patient subsequently did develop overt FL. The first case of typical FLIS confirms that peripheral blood spill does not connote poor prognosis in FLIS, the second case illustrates that FLIS may colonize mucosa-associated lymphoid tissue as part of homing in process of a disseminated FL and the third case validates the aggressive nature of high-grade FLIS.

  9. Non-IPSID small intestinal lymphoma: Evidence for disseminated disease at presentation

    International Nuclear Information System (INIS)

    Milanovic, N.; Jelic, S.; Kovcin, V.; Opric, M.; Marinkovic, M.; Jovanovic, V.

    1994-01-01

    During the period 1984-1989 the authors have observed 20 patients with non-immuno-proliferative small intestinal disease (non-IPSID) small intestinal lymphomas, 11 males and 9 females. In 11 patients the first symptoms were abdominal cramps requiring laparotomy, in 4 ills, and in 5 perforation with peritonitis. Resection of the involved part of the intestine was performed in 17 patients. Lymphoma tissue was present in 4 of 5 retrogradely examined resection lines on macroscopically normal small intestine. According to Working Formulation, 3 patients had low grade, 3 intermediate grade and 14 high grade histology. Affection of extra intestinal/mesenteric structures was found in 18 of 20 patients, with a total of other lymphoma localizations. 8 of 20 affection of the nasopharynx and/or Waldeyer's ring. According to Crowther's classification 55 % patients were in Stage IV, 35 % in Stage III and 10 % in stage Ib. All patients were treated with chemotherapy, 13 with ProMACE regimen and 7 with CHOP-type regimens. Ten of twenty patients are alive and in complete remission for over 5 years (7 of 11 of Stage IV and 3 of 9 of Stage Ib/III; 8 of 14 with high grade and 2 of 6 with intermediate/low grade histology). Our results point to the fact that in non-IPSID lymphoma of the small intestine, lymphoma involvement of the intestinal wall might be present beyond obvious lymphoma lesions. Most patients with apparently primary small intestinal lymphoma have a widespread disease. Thus, local forms of treatment such as surgery and/or radiotherapy can not be expected to be curative in the majority of patients. Data from this study suggest that following initial surgery the chemotherapy is the treatment of choice for these patients. (author)

  10. Celiac Disease Presenting with Peripheral Neuropathy in Children: A Case Report.

    Science.gov (United States)

    Pacitto, Alessandra; Paglino, Alessandra; Di Genova, Lorenza; Leonardi, Alberto; Farinelli, Edoardo; Principi, Nicola; di Cara, Giuseppe; Esposito, Susanna

    2017-07-14

    Background: Clinically relevant neurological manifestations in children with celiac disease (CD) are unusual, especially when they are considered as signs of the onset of the disease. In this paper, a case of Guillain-Barrè syndrome (GBS) as the first manifestation of CD in a 23-month-old child is reported. Case presentation: We describe a case of CD onset with peripheral neuropathy in a 23-month-old Bulgarian boy presenting with a sudden refusal to walk and absence of deep tendon reflexes in both lower limbs. Neurological symptoms were preceded by two months of gastrointestinal symptoms such as vomiting, abdominal distention, and clear signs of malnutrition and weight loss. When we evaluated the child six months after the onset of the symptoms, clinical and laboratory findings showed clear signs of peripheral neuropathy associated with malnutrition. Serum deamidated gliadin and tissue transglutaminase antibodies were therefore measured. The anti-gliadin levels were more than sixteen times higher than normal and the IgA anti-transglutaminase levels were four times higher than normal. Anti-endomysium antibodies were positive, and human leukocyte antigens (HLA) II typing confirmed a genetic predisposition to CD (DQ2 positive and DQ8 negative). Given the association between the clinical evidence of the disease and the results of the celiac screening tests, a diagnosis of CD was made without biopsy confirmation of the enteropathy. The child began a restricted gluten-free diet that led to complete recovery of the peripheral neuropathy, walking, reflexes, and overall improvement after three months on the diet. Conclusion: Our case underlines the rare but possible associations between CD and peripheral neuropathy in children as an onset symptom, even in the absence of gastrointestinal manifestations, thus suggesting that CD should always be considered in the differential diagnosis of peripheral neuropathy in children. A good knowledge of the extra

  11. Orofacial granulomatosis in children can be the initial manifestation of systemic disease: a presentation of two cases

    DEFF Research Database (Denmark)

    Simonsen, Anne Birgitte; Deleuran, Mette

    2014-01-01

    Orofacial granulomatosis is a chronic granulomatous condition characterized by relapsing and remitting lip swelling and oral involvement that may include deep ulcers, tags and cobblestone formation. It occurs as an independent entity but also in conjunction with systemic diseases...... such as tuberculosis, sarcoidosis and Crohn's disease. The clinical presentation is not indicative of concomitant systemic disease. To highlight the importance of thorough examination to rule out systemic disease, we present two childhood cases of orofacial granulomatosis, one of which was associated to Crohn......'s disease....

  12. Defecation of a colon cast as a rare presentation of acute graft-versus-host disease

    International Nuclear Information System (INIS)

    Al Ashgar, Hamad; Peedikayil, Musthafa; Chaudhri, Naeem; AlGhamdi, Abdulmonem

    2009-01-01

    Diffuse involvement of the gastrointestinal tract by graft versus host disease (GVHD) is a common complication of allogeneic hematopoietic stem cell transplant (HSCT). Gastrointestinal GVHD usually presents 3 or more weeks after HSCT and is characterized by profuse diarrhea, anorexia, nausea, vomiting, abdominal pain and gastrointestinal bleeding. We report a case of a 23 year old male who had undergone allogeneic HSCT and presented with bloody diarrhea on the 90th day post-HSCT. On the fourth day of admission, the patient passed per rectum a 27-cm long pinkish colored fleshy material recognized as a colon cast. Sigmoidoscopy showed a congested and erythematous rectum with the remaining portion of the colon cast attached to the proximal part of the sigmoid colon. A biopsy from the rectal wall was suggestive of grade 4 GVHD. The patient was treated with methylprednisolone, cyclosporine and mycophenolate mofetil, with a partial response (diarrhea and abdominal pain improved), but then he developed multiple other medical complications and died after 3 months. (author)

  13. The role of fungal sensitisation in clinical presentation in patients with chronic obstructive pulmonary disease.

    Science.gov (United States)

    Agarwal, Kshitij; Gaur, Shailendra Nath; Chowdhary, Anuradha

    2015-09-01

    Atopic patients with chronic obstructive pulmonary disease (COPD) demonstrate more severe symptoms than their non-atopic counterparts. Also, Aspergillus hypersensitivity is known in COPD. However, allergic sensitisation to non-Aspergillus fungi has never been studied in COPD patients. To evaluate the prevalence of fungal sensitisation and its impact on the clinical presentation and outcome of COPD patients. Sensitisation to 17 fungi was studied in 55 COPD patients through skin prick tests, fungus-specific IgE, precipitating antibodies, total IgE and eosinophil counts. The clinical symptoms of patients were monitored thorough a patient-administered questionnaire. Overall, 5.4% (n = 3) of COPD patients were fungus sensitive. The sensitisation was noted to Alternaria alternata and Schizophyllum commune in two patients each, whereas another was sensitive to A. tamarii, Rhizopus spp. and Aspergillus fumigatus. Eosinophils were higher in fungus-sensitised patients (P = 0.001 vs. 0.003). No differences were noted in the clinical presentation of patients sensitised to fungi compared to those not sensitised to fungi or non-atopic. Although low, fungal sensitisation occurs in COPD but it is not limited to Aspergilli alone. Fungus-sensitised patients exhibit greater eosinophilia, implying more severe inflammation. Thus, such patients should be followed up regularly to recognise clinical worsening or development of ABPM. © 2015 Blackwell Verlag GmbH.

  14. Osler-Weber-Rendu disease presenting with hepatocellular carcinoma: radiologic and genetic findings.

    Science.gov (United States)

    Lee, Joo Ho; Lee, Yung Sang; Kim, Pyo Nyun; Lee, Beom Hee; Kim, Gu Whan; Yoo, Han Wook; Heo, Nae Yun; Lim, Young Suk; Lee, Han Chu; Chung, Young Hwa; Suh, Dong Jin

    2011-12-01

    This is a case report of a 68-year-old man with hepatocellular carcinoma (HCC) accompanied by hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, and hepatic vascular malformation. HHT is an autosomal dominant disorder of the fibrovascular tissue that is characterized by recurrent epistaxis, mucocutaneous telangiectasias, and visceral arteriovenous malformations. HHT is caused by mutation of the genes involved in the signaling pathway of transforming growth factor-β, which plays an important role in the formation of vascular endothelia. Hepatic involvement has been reported as occurring in 30-73% of patients with HHT. However, symptomatic liver involvement is quite rare, and the representative clinical presentations of HHT in hepatic involvement are high-output heart failure, portal hypertension, nodular regenerative hyperplasia, and symptoms of biliary ischemia. Some cases of HCC in association with HHT have been reported, but are very rare. We present herein the characteristic radiologic and genetic findings of HHT that was diagnosed during the evaluation and treatment of HCC.

  15. Effects of rhythmic stimulus presentation on oscillatory brain activity: the physiology of cueing in Parkinson's disease.

    Science.gov (United States)

    te Woerd, Erik S; Oostenveld, Robert; Bloem, Bastiaan R; de Lange, Floris P; Praamstra, Peter

    2015-01-01

    The basal ganglia play an important role in beat perception and patients with Parkinson's disease (PD) are impaired in perception of beat-based rhythms. Rhythmic cues are nonetheless beneficial in gait rehabilitation, raising the question how rhythm improves movement in PD. We addressed this question with magnetoencephalography recordings during a choice response task with rhythmic and non-rhythmic modes of stimulus presentation. Analyses focused on (i) entrainment of slow oscillations, (ii) the depth of beta power modulation, and (iii) whether a gain in modulation depth of beta power, due to rhythmicity, is of predictive or reactive nature. The results show weaker phase synchronisation of slow oscillations and a relative shift from predictive to reactive movement-related beta suppression in PD. Nonetheless, rhythmic stimulus presentation increased beta modulation depth to the same extent in patients and controls. Critically, this gain selectively increased the predictive and not reactive movement-related beta power suppression. Operation of a predictive mechanism, induced by rhythmic stimulation, was corroborated by a sensory gating effect in the sensorimotor cortex. The predictive mode of cue utilisation points to facilitation of basal ganglia-premotor interactions, contrasting with the popular view that rhythmic stimulation confers a special advantage in PD, based on recruitment of alternative pathways.

  16. A rare presentation of adult onset Still’s disease in an elderly patient

    Directory of Open Access Journals (Sweden)

    Mariya Apostolova

    2011-10-01

    Full Text Available Adult onset Still’s disease (AOSD is a rare inflammatory disorder of unknown etiology that usually affects young adults. Very few patients older than 70-year-old have been reported. Clinical features include quotidian fevers, arthralgias, arthritis, pharyngitis, lymphadenopathy and an evanescent rash. AOSD should be considered in the differential diagnosis of fever of unknown origin. Early diagnosis is often difficult since it is a diagnosis of exclusion and the presence of infectious, neoplastic and autoimmune conditions needs to be ruled out before the diagnosis is made. No specific laboratory tests are available to aid in the diagnosis of AOSD. As a result, a set of diagnostic criteria that define the clinical features of this condition, termed the Yamaguchi criteria, have been most commonly used to establish the diagnosis. We describe the case of a 72-year-old Caucasian male with past medical history significant for generalized anxiety disorder, depression, BPH, and hypertriglyceridemia, who presented to a tertiary institution complaining of profound generalized weakness and weight loss that started three weeks prior to presentation. Initial laboratory studies showed leukocytosis, elevated ESR, CRP, ferritin and liver dysfunction. Cultures, ANA and rheumatoid factor studies were negative. The patient underwent further extensive workup that excluded the presence of infectious, neoplastic and autoimmune disorders and was subsequently diagnosed with AOSD and new onset diabetes mellitus. For the management of AOSD he was started on prednisone with significant improvement in markers of inflammation, symptoms and level of function.

  17. Occupational diseases in the Netherlands: incidence, type, consequences and risk factors: abstract and presentation

    NARCIS (Netherlands)

    Venema, A.; Steenbeek, R.; Dam, L. van; Vroome, E. de

    2017-01-01

    Objectives: Occupational diseases are common and result in a substantial disease burden and high sickness absence. Reliable data on the incidence and a better understanding of the risk factors will help to develop preventive measures. Methods: Several sources of measuring occupational diseases were

  18. Patterns of presentation of chronic ischemic heart disease with and without previous myocardial infarction

    International Nuclear Information System (INIS)

    Ahmad, R.; Rabbani, A.; Awan, Z.A.

    2009-01-01

    The prevalence of Ischemic Heart Disease (IHD) is on the rise, from increasing lifespan of population and availability of better medical facilities. We studied chronic IHD cases with and without previous myocardial infarction, in Hazara, NWFP, Pakistan to evaluate left ventricular (LV) dysfunction, wall motion abnormalities and complications of IHD. All patients presenting with history of chest pain in Medical 'C' Unit, Ayub Teaching Hospital, Abbottabad from June 2004 to May 2005 were included in the study. Patients with non-cardiac chest pain were excluded from the study. Cases with congenital and rheumatic heart disease, cardiomyopathies, unstable angina and acute MI were excluded. Patients with IHD with or without myocardial infarction (MI) were studied for left ventricular dysfunction (ejection fraction, left atrial size, E/A ratio), wall motion abnormalities and complications of IHD (Mitral regurgitation, Ventricular Septal Defect (VSD), LV aneurysm, LV clot). Clinical and echocardiographic evaluation was done in each case. Out of 183 cases of chronic IHD, 123 patients were without previous MI and 60 had had previous MI. Ejection fraction (EF) was 45%+-15 in the group without MI and 35+-11% in cases with MI. Left Atrium (LA) size was 35+-6 mm and 39+-4 mm in the two groups respectively. LV diastolic dysfunction was seen in 17% in the first and 24% in the second group respectively. Global hypokinesia was seen in 8% and 17% in the 2 groups respectively. Regional Wall Motion Abnormality (RWMA) was observed in 12% in patients without MI and in 58% cases with MI. Mitral regurgitation was seen in 10 and 20% in the 2 groups respectively LV clots, VSD, LV and aneurysm were seen in 8.4, 5, and 6.5% respectively, only in cases with previous MI. LV dysfunction, wall motion abnormalities and mitral regurgitation were more common in IHD cases with previous heart attack. (author)

  19. Clinical presentation of patients with Ebola virus disease in Conakry, Guinea.

    Science.gov (United States)

    Bah, Elhadj Ibrahima; Lamah, Marie-Claire; Fletcher, Tom; Jacob, Shevin T; Brett-Major, David M; Sall, Amadou Alpha; Shindo, Nahoko; Fischer, William A; Lamontagne, Francois; Saliou, Sow Mamadou; Bausch, Daniel G; Moumié, Barry; Jagatic, Tim; Sprecher, Armand; Lawler, James V; Mayet, Thierry; Jacquerioz, Frederique A; Méndez Baggi, María F; Vallenas, Constanza; Clement, Christophe; Mardel, Simon; Faye, Ousmane; Faye, Oumar; Soropogui, Baré; Magassouba, Nfaly; Koivogui, Lamine; Pinto, Ruxandra; Fowler, Robert A

    2015-01-01

    In March 2014, the World Health Organization was notified of an outbreak of Zaire ebolavirus in a remote area of Guinea. The outbreak then spread to the capital, Conakry, and to neighboring countries and has subsequently become the largest epidemic of Ebola virus disease (EVD) to date. From March 25 to April 26, 2014, we performed a study of all patients with laboratory-confirmed EVD in Conakry. Mortality was the primary outcome. Secondary outcomes included patient characteristics, complications, treatments, and comparisons between survivors and nonsurvivors. Of 80 patients who presented with symptoms, 37 had laboratory-confirmed EVD. Among confirmed cases, the median age was 38 years (interquartile range, 28 to 46), 24 patients (65%) were men, and 14 (38%) were health care workers; among the health care workers, nosocomial transmission was implicated in 12 patients (32%). Patients with confirmed EVD presented to the hospital a median of 5 days (interquartile range, 3 to 7) after the onset of symptoms, most commonly with fever (in 84% of the patients; mean temperature, 38.6°C), fatigue (in 65%), diarrhea (in 62%), and tachycardia (mean heart rate, >93 beats per minute). Of these patients, 28 (76%) were treated with intravenous fluids and 37 (100%) with antibiotics. Sixteen patients (43%) died, with a median time from symptom onset to death of 8 days (interquartile range, 7 to 11). Patients who were 40 years of age or older, as compared with those under the age of 40 years, had a relative risk of death of 3.49 (95% confidence interval, 1.42 to 8.59; P=0.007). Patients with EVD presented with evidence of dehydration associated with vomiting and severe diarrhea. Despite attempts at volume repletion, antimicrobial therapy, and limited laboratory services, the rate of death was 43%.

  20. HMGB1 in vascular diseases : Its role in vascular inflammation and atherosclerosis

    NARCIS (Netherlands)

    de Souza, A. W. S.; Westra, J.; Limburg, P. C.; Bijl, M.; Kallenberg, C. G. M.

    2012-01-01

    The nuclear protein high mobility group box 1 (HMGB1) has been suggested to be involved in the pathogenesis of several vascular diseases such as systemic vasculitis and atherosclerosis. In systemic vasculitides including ANCA-associated vasculitis and Kawasaki disease, serum HMGB1 levels are higher

  1. IgG4-related lung disease presenting as interstitial lung disease with bronchiolitis: A case report.

    Science.gov (United States)

    Chen, Chiu-Fan; Chu, Kuo-An; Tseng, Yen-Chiang; Wu, Chang-Che; Lai, Ruay-Sheng

    2017-12-01

    IgG4-related disease is a rare and novel disease entity that tends to involve multiple organs. The pulmonary manifestation of this disease is highly variable and may mimic lung cancer, pneumonia, interstitial lung disease (ILD), sarcoidosis, and so forth. Small airway disease is rarely reported in IgG4-related lung disease (IgG4-RLD). In the current study, we describe a rare case of IgG4-RLD with patterns of ILD and bronchiolitis. A 43-year-old man had chronic cough and dyspnea on exertion for 4 years. Initial chest radiography showed diffuse interstitial infiltration. Follow-up chest computed tomography 4 years later revealed bilateral diffuse centrilobular nodules with tree-in-bud pattern, bronchial wall thickening, and mediastinal lymph nodes. Bilateral diffuse multifocal ground-glass opacities and mosaic attenuation were also observed. Pulmonary function test revealed mixed restrictive and obstructive ventilatory impairment. Video-assisted thoracoscopic surgery (VATS) lung biopsy showed interstitial fibrosis with lymphoplasmacytic infiltration rich in IgG4-positive plasma cells. Serum IgG4 level also showed remarkable elevation. Therefore, IgG4-RLD is confirmed. VATS wedge resection of right upper lobe and mediastinal lymph node. The patient responded well to steroid and immunosuppression therapy, and was regular followed-up in outpatient clinic. IgG4-RLD should be considered not only in ILD, but also in small airway disease. Serum IgG4 level may be a useful tool for screening.

  2. Coeliac disease - clinical presentation and diagnosis by anti tissue transglutaminase antibodies titre in children

    International Nuclear Information System (INIS)

    Hussain, S.; Sabir, M.U.D.; Afzal, M.; Asghar, I.

    2014-01-01

    Objective: To study the spectrum of clinical presentation of coeliac disease and the role of IgA anti-tissue transglutaminase antibodies titer in the diagnosis and effect of gluten-free diet on such titers in children. Methods: The prospective study was conducted in the paediatric department of Combined Military Hospital, Kharian from Sep 2011 to Sep 2012. Children of 1-12 years of age presenting with chronic diarrhoea, malnutrition and failure to thrive were included regardless of gender, socioeconomic status, ethnicity and geographical distribution. Anti-tissue transglutaminase antibodies titers were done on enrolment. Patients with levels more than 30u/ml were enrolled. They were advised strict gluten-free diet for six months. These titers were repeated after six months to document the effect of gluten-free diet on these titers. Paediatric endoscopy and duodenal biopsy facilities were not available at the study site, so the response was monitored through titers. Data was analysed using SPSS-20. Results: Out of 61 patients with IgA levels more than 10 u/ml, 52 (85.24%) were found to have a positive (>30u/ml) anti-tissue transglutaminase antibodies titers with a mean value of 42.67+-7.60 U/ml. These 52 patients were then put on a trial of gluten-free diet for six months after which significant reduction in titer was noticed, with a mean value of 13.25+-2.59 U/ml. This reduction in titer was associated with marked clinical improvement and regression of symptoms. Frequency of different clinical features in descending order revealed that chronic diarrhoea, abdominal distension, iron deficiency anaemia, failure to thrive, pallor and rickets were present in 38 (73.1%), 30 (57.7%), 29 (55.8%), 29 (53.8%), 28 (53.8%) patients respectively. Conclusion: Chronic diarrhoea, failure to thrive, pallor, abdominal distention and iron deficiency anaemia were common modes of presentation. The antibodies were strongly positive in most of the cases. All children showed significant

  3. Cushing Disease Presenting as Primary Psychiatric Illness: A Case Report and Literature Review.

    Science.gov (United States)

    Rasmussen, Sean A; Rosebush, Patricia I; Smyth, Harley S; Mazurek, Michael F

    2015-11-01

    We report the case of a woman with long-standing refractory depression and psychotic features who was eventually diagnosed with Cushing disease. After surgical treatment of a pituitary adenoma, she experienced gradual psychiatric recovery and was eventually able to discontinue all psychotropic medication. We review the psychiatric components of Cushing disease, implications of psychiatric illnesses for the treatment and prognosis of Cushing disease, and potential pathophysiological mechanisms linking glucocorticoid excess to psychiatric illness.

  4. Relationship of activin A levels with clinical presentation, extent, and severity of coronary artery disease.

    Science.gov (United States)

    Bouzidi, Nadia; Betbout, Fethi; Maatouk, Faouzi; Gamra, Habib; Miled, Abdelhedi; Ferchichi, Salima

    2017-12-01

    We aimed to evaluate the relationship of serum activin A levels with risk factors, clinical presentation, biochemical marker levels, extent, and severity of atherosclerotic coronary artery disease (CAD). In total, 310 CAD patients [92 with ST-segment elevation myocardial infarction (STEMI), 111 with non-STEMI (NSTEMI), and 107 with unstable angina (UA)] and 207 healthy subjects (controls) were enrolled. Activin A levels in all participants were measured using ELISA. Angiographic measurements were performed in patients and not in the healthy subjects. Activin A levels were higher in all patient groups than in controls (patients vs. controls, p=0.041; NSTEMI vs. UA, p=0.744; STEMI vs. UA, p=0.172; NSTEMI vs. STEMI, p=0.104). According to the cut-off value of activin A level, patients with high and low activin A levels had a similar distribution of clinical and biochemical variables but the prevalence of severe stenosis was observed in groups with high activin A levels. Our results revealed that activin A levels did not decrease as thrombolysis in myocardial infarction (risk score increased (p=0.590). The area under the ROC curve for activin A levels in patients was 0.590±0.047 (95% CI: 0.439-0.591, p=0.193). In multiple analysis of the overall population, male gender (ß=-0.260; 95% CI: -617.39 to -110.04; p=0.005) was an independent predictor of activin A levels. This study indicated that activin A can not be a predictive marker in CAD and is not associated with extensive and severe CAD. In contrast, the increase in activin A levels in patients, especially in patients with different clinical groups of acute coronary syndromes, suggested its involvement in atherosclerosis.

  5. Hyaline vascular-type castleman disease presenting as an esophageal submucosal tumor: case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ki Nam; Lee, Ki Nam; Kang, Myong Jin; Roh, Mee Sook; Choi, Pil Jo; Yang, Doo Kyung [Donga University, Pusan (Korea, Republic of)

    2006-03-15

    Castleman disease is a relatively rare disorder of lymphoid tissue that involves the gastrointestinal tract in a variety of clinical and pathologic manifestation. A submucosal location has never been described in the medical literature. We report a case of esophageal Castleman disease involving the submucosal layer in a 62-year-old man, which was confirmed on pathology. Esophagography and CT demonstrated an intramural tumor, and a leiomyoma or leiomyosarcoma was suspected based on the known incidence of such tumors.

  6. Timing of Intravenous Immunoglobulin Treatment and Risk of Coronary Artery Abnormalities in Children with Kawasaki Disease

    Directory of Open Access Journals (Sweden)

    Aswine K. Bal

    2014-10-01

    Conclusion: The results of this study suggest that although IVIG treatment within 10 days is important to minimize development of cardiac pathology, neither occurrence of CA lesions in IVIG-treated children nor the time frame for resolution of established CA abnormalities was associated with the timing of IVIG administration. Age 40 mm/hour predict a delay in resolution of CA lesions among children with KD.

  7. Bilateral painful parotid lumps and a lump in the groin: An uncommon presentation of common Kikuchi's disease

    Directory of Open Access Journals (Sweden)

    Sumeet Prakash Mirgh

    2016-01-01

    Full Text Available Kikuchi-Fujimoto disease (KFD is an under-recognized disease most commonly presenting with cervical lymphadenopathy, fever, and cytopenias in young females. Bilateral parotid enlargement is usually caused by infections (e.g., mumps and autoimmune conditions (e.g., Sjogren syndrome. Parotid enlargement, inguinal lymphadenopathy, and pyrexia of unknown origin are uncommon presenting features of KFD and should be suspected in the appropriate setting.

  8. Visualization of coronary arteries in patients after childhood Kawasaki syndrome: value of multidetector CT and MR imaging in comparison to conventional coronary catheterization

    International Nuclear Information System (INIS)

    Arnold, Raoul; Ley, Sebastian; Ley-Zaporozhan, Julia; Kauczor, Hans-Ulrich; Eichhorn, Joachim; Ulmer, Herbert; Schenk, Jens-Peter

    2007-01-01

    After childhood Kawasaki syndrome (KS) the coronary arteries undergo a lifelong dynamic pathological change, and follow-up coronary artery imaging is essential. At present, conventional coronary catheterization (CCC) and angiography is still regarded as the gold standard. Less-invasive methods such as multidetector CT angiography (MDCT-A) and MRI have been used sporadically. To compare the diagnostic quality of MDCT-A and MRI with that of CCC for coronary imaging in a group of patients with coronary artery pathology after childhood KS. A total of 16 patients (aged 5-27 years) underwent CCC and 16-row MDCT-A and 14 patients MRI (1.5 T). There was 100% agreement between MDCT-A and CCC in the detection of coronary aneurysms and stenoses. MDCT-A was superior for the visualization of calcified lesions. MRI and CCC showed 93% agreement for the detection of aneurysms. Visualization of coronary artery stenoses was difficult using MRI - one stenosis was missed. MDCT-A has excellent correlation with CCC regarding all changes affecting the coronary arteries in the follow-up of childhood KS. In comparison to MDCT-A and CCC, MRI is less precise in the detection of stenotic lesions. Due to its high image quality and ease of performance MDCT-A should be the primary diagnostic modality in patients following childhood KS. (orig.)

  9. Wilson?s disease presenting as rapid eye movement sleep behavior disorder: a possible window to early treatment

    Directory of Open Access Journals (Sweden)

    Gotthard G. Tribl

    2014-09-01

    Full Text Available Objective To describe characteristics of REM sleep behavior disorder in Wilson’s disease. Method Questionnaire-based interviews (patients and relatives, neurological examinations, two-week prospective dream-diary, video-polysomnography, transcranial sonography, MRI. Results Four Wilson’s disease cases with REM sleep behavior disorder were described; three had REM sleep behavior disorder as initial symptom. All showed mesencephalic tegmental/tectal sonographic hyperechogenicities and two presented ponto-mesencephalic tegmental MRI hyperintensities. Conclusion This first description of REM sleep behavior disorder in Wilson’s disease in literature documents REM sleep behavior disorder as a possible presenting symptom of Wilson’s disease and adds further evidence to the parallelism of Parkinson’s disease and Wilson’s disease in phenotype and brainstem topography, which ought to be further studied. REM sleep behavior disorder has prognostic relevance for neurodegeneration in α-synucleinopathies. In Wilson’s disease, usefulness of early diagnosis and treatment are already well established. REM sleep behavior disorder in Wilson’s disease offers a possible theoretical model for potential early treatment in this extrapyramidal and brainstem paradigm syndrome, previewing the possibility of neuroprotective treatment for REM sleep behavior disorder in “pre-clinical” Parkinson’s disease.

  10. Steroid-responsive IgG4-related disease with isolated prostatic involvement: An unusual presentation with elevated serum PSA

    Directory of Open Access Journals (Sweden)

    Vikas Jain

    2016-01-01

    Full Text Available Autoimmune prostatitis is known to occur as a part of multisystem fibro-inflammatory disorder known as IgG4 related disease (IgG4 RD. The usual presentation is with symptoms of gastro-intestinal disease with prostatic involvement presenting as lower urinary tract symptoms. The disease responds to corticosteroids. We report an asymptomatic young man who was diagnosed to have IgG4 related prostatitis on TRUS-guided prostate biopsy done for elevated serum PSA, in the absence of any other systemic involvement. The treatment with steroid resulted in normalization of S PSA levels.

  11. Unexplained infertility as primary presentation of celiac disease, a case report and literature review

    Directory of Open Access Journals (Sweden)

    Mohammadreza Ghadir

    2011-01-01

    Full Text Available Background: Celiac sprue (gluten sensitive enteropathy is an autoimmune disease which is hereditary and its pathology mainly bases on immunologic intolerance to gluten. It has a vast variety of signs and symptoms and its clinical features range from a silent disease to a typical gastrointestinal disorder. In this study we reviewed and summarized some other related issues about this disease and its relation with infertility.Case: The case is a 26 years old lady who had referred to a gynecologist because of infertility for 2 years and later it revealed that she has celiac sprue.Conclusion: Screening for its silent or subtle types especially among suspicious cases such as unexplained infertility seems to be a cost effective action. Meanwhile, in time administration of a gluten-free diet can lead to an almost complete cure

  12. Small molecule therapeutics for inflammation-associated chronic musculoskeletal degenerative diseases: Past, present and future.

    Science.gov (United States)

    Chen, Yangwu; Huang, Jiayun; Tang, Chenqi; Chen, Xiao; Yin, Zi; Heng, Boon Chin; Chen, Weishan; Shen, Weiliang

    2017-10-01

    Inflammation-associated chronic musculoskeletal degenerative diseases (ICMDDs) like osteoarthritis and tendinopathy often results in morbidity and disability, with consequent heavy socio-economic burden. Current available therapies such as NSAIDs and glucocorticoid are palliative rather than disease-modifying. Insufficient systematic research data on disease molecular mechanism also makes it difficult to exploit valid therapeutic targets. Small molecules are designed to act on specific signaling pathways and/or mechanisms of cellular physiology and function, and have gradually shown potential for treating ICMDDs. In this review, we would examine and analyze recent developments in small molecule drugs for ICMDDs, suggest possible feasible improvements in treatment modalities, and discuss future research directions. Copyright © 2017. Published by Elsevier Inc.

  13. The present and future disease burden of hepatitis C virus (HCV) infection with today's treatment paradigm

    DEFF Research Database (Denmark)

    Razavi, H; Waked, I; Sarrazin, C

    2014-01-01

    The disease burden of hepatitis C virus (HCV) is expected to increase as the infected population ages. A modelling approach was used to estimate the total number of viremic infections, diagnosed, treated and new infections in 2013. In addition, the model was used to estimate the change in the total...... number of HCV infections, the disease progression and mortality in 2013-2030. Finally, expert panel consensus was used to capture current treatment practices in each country. Using today's treatment paradigm, the total number of HCV infections is projected to decline or remain flat in all countries...

  14. Calcium pyrophosphate dihydrate crystal deposition disease presenting as a pseudotumor of the temporomandibular joint

    International Nuclear Information System (INIS)

    Vargas, A.; Teruel, J.; Pont, J.; Velayos, A.; Trull, J.; Lopez, E.

    1997-01-01

    We report a case of a 66-year-old white woman with calcium pyrophosphate dihydrate (CPPD) crystal deposition disease. The patient related a 2-month history of swelling with tenderness over the left pre-auricular region. A CT scan suggested a synovial chondromatosis. Surgical removal was done and histologic study showed CPPD crystals. This disease rarely involves the temporomandibular joint (TMJ) and is not usually considered in the differential diagnosis. To our knowledge, only 14 cases have been reported in the literature. (orig.)

  15. Omega-3 polyunsaturated fatty acids for cardiovascular diseases: present, past and future.

    Science.gov (United States)

    Watanabe, Yasuhiro; Tatsuno, Ichiro

    2017-08-01

    Large-scale epidemiological studies on Greenlandic, Canadian and Alaskan Eskimos have examined the health benefits of omega-3 fatty acids consumed as part of the diet, and found statistically significant relative reduction in cardiovascular risk in people consuming omega-3 fatty acids. Areas covered: This article reviews studies on omega-3 fatty acids during the last 50 years, and identifies issues relevant to future studies on cardiovascular (CV) risk. Expert commentary: Although a meta-analysis of large-scale prospective cohort studies and randomized studies reported that fish and fish oil consumption reduced coronary heart disease-related mortality and sudden cardiac death, omega-3 fatty acids have not yet been shown to be effective in secondary prevention trials on patients with multiple cardiovascular disease (CVD) risk factors. The ongoing long-term CV interventional outcome studies investigate high-dose, prescription-strength omega-3 fatty acids. The results are expected to clarify the potential role of omega-3 fatty acids in reducing CV risk. The anti-inflammatory properties of omega-3 fatty acids are also important. Future clinical trials should also focus on the role of these anti-inflammatory mediators in human arteriosclerotic diseases as well as inflammatory diseases.

  16. Clinical presentation resembling mucosal disease associated with 'HoBi'-like pestivirus in a field outbreak

    Science.gov (United States)

    The genus Pestivirus of the family Flaviviridae consists of four recognized species: Bovine viral diarrhea virus 1 (BVDV-1), Bovine viral diarrhea virus 2 (BVDV-2), Classical swine fever virus (CSFV) And Border disease virus (BDV). Recently, atypical pestiviruses (‘HoBi’-like pestiviruses) were iden...

  17. Effects of rhythmic stimulus presentation on oscillatory brain activity: the physiology of cueing in Parkinson's disease

    NARCIS (Netherlands)

    Woerd, E.S. te; Oostenveld, R.; Bloem, B.R.; Lange, F.P. de; Praamstra, P.

    2015-01-01

    The basal ganglia play an important role in beat perception and patients with Parkinson's disease (PD) are impaired in perception of beat-based rhythms. Rhythmic cues are nonetheless beneficial in gait rehabilitation, raising the question how rhythm improves movement in PD. We addressed this

  18. A child that presents with an acute limp: Legg-Calvé-Perthes disease

    African Journals Online (AJOL)

    Legg-Calvé-Perthes disease describesan idiopathic avascular necrosis of the proximal femoral epiphysis. Initial therapy includes maintenance of the femoral head within the acetabulum by an abduction splint. Additionally, daily abduction stretching exercises and physical therapy are recommended. Surgical containment ...

  19. Microsporum spp. onychomycosis: disease presentation, risk factors and treatment responses in an urban population

    Directory of Open Access Journals (Sweden)

    Erick Martínez

    2014-03-01

    Conclusion: This is the largest reported series of Microsporum onychomycosis and demonstrates such a disease in an urban population. In 27.78% of the cases risk factors for infection were associated to comorbid states. We also report the first 2 cases of successfully treated M. canis onychomycosis with photodynamic therapy and a rare case of M. canis associated dermatophytoma.

  20. Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.

    Science.gov (United States)

    Jaiyeola, P; El-Metwally, D; Viscardi, R; Greene, C; Woo, H

    2015-01-01

    Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. Haddad syndrome is CCHS with Hirschsprung's disease. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.

  1. IgG4-related pleural disease presenting as a massive bilateral effusion.

    Science.gov (United States)

    Ishida, Atsuko; Furuya, Naoki; Nishisaka, Takashi; Mineshita, Masamichi; Miyazawa, Teruomi

    2014-07-01

    A 74-year-old woman with massive bilateral pleural effusion, which was exudative in nature, and with mononuclear cell predominance underwent a pleuroscopy. Parietal pleura were thickened and partly reddish in color. Biopsy specimens taken from the parietal pleura revealed lymphoplasmacytic inflammation with fibrosis. As her performance status rapidly worsened with thoracentesis, we performed bilateral pleurodesis using talc. Pathologic evaluation of the pleural biopsy specimen with immunohistochemical staining revealed 91 IgG4-positive plasma cells per high-power field and an IgG4/IgG ratio of 91%. Thus, the diagnosis of pleuritis from IgG4-related disease was established. Our case suggests that IgG4-related disease is one of the causes of pleural effusion, and it should be included in the differential diagnosis of unexplained pleuritis.

  2. Acute renal dysfunction in a patient presenting with rhabdomyolysis due to Hypothyroidism attributed to Hashimoto's Disease

    OpenAIRE

    Nikolaidou, C; Gouridou, E; Ilonidis, G; Boudouris, G

    2010-01-01

    We describe a patient with rhabdomyolysis and acute renal dysfunction due to hypothyroidism, attributed to Hashimoto's disease. Though rhabdomyolysis could be life-threatening, it is a rare complication of hypothyroidism, especially when other precipitating factors, such as exercise, alcohol, medications or renal failure, are absent. Nevertheless, hypothyroidism can be an authentic cause of rhabdomyolysis and should always be considered when elevated creatine kinase (CK) and other muscle enzy...

  3. Nitromedicine: translating alternative medicine to evidence based medicine and redefining disease (Conference Presentation)

    Science.gov (United States)

    Halasa, Salaheldin; Arany, Praveen; Hamblin, Michael R.

    2016-03-01

    Nitromedicine is a new medical treatment paradigm, focused on increasing nitric oxide (NO) bioavailability and modulating redox-signaling pathways combined with phototherapy, electrotherapy and stem cell therapy. It has been known since the discovery of the biological role of NO in the 1980s, that supplying NO donors such can have many beneficial effects in different conditions by stimulating stem cells and modulating the immune response, but there also exists a substantial risk of side-effects with long-term use. Excess NO can inhibit mitochondrial metabolism by binding to cytochrome c oxidase (CCO) and can also produce reactive nitrogen species (Peroxynitrite) by interacting with reactive oxygen species (ROS). To avoid these potential damaging side-effects we propose to combine the use of NO donors with three additional components. Firstly we believe that addition of antioxidants such as hydrogen sulfide donors, polyphenols and vitamins can neutralize ROS and RNS. Secondly we believe that application of appropriate wavelengths and dosages of light (blue, red or near infrared depending on the exact condition being treated) will dissociate NO from CCO (and other storage sites) thus restoring mitochondrial ATP production and stimulating healing in many situations. Thirdly delivering electrons to the body might help to saturate the free radicals with electrons, eliminate underlying oxidative stress, stabilize mitochondria, prevent further formation of pathological free radicals and increase the nitric oxide bioavailability. This combination therapy may be applied to treat a large variety of oxidative stressed related diseases such as degenerative diseases, immunological diseases, chronic infectious diseases, cancers and a broad range of unmet medical needs involving chronic inflammation with an emphasis on pain management.

  4. Osler-Weber-Rendu disease presenting with hepatocellular carcinoma: radiologic and genetic findings

    OpenAIRE

    Lee, Joo Ho; Lee, Yung Sang; Kim, Pyo Nyun; Lee, Beom Hee; Kim, Gu-Whan; Yoo, Han-Wook; Heo, Nae-Yun; Lim, Young-Suk; Lee, Han Chu; Chung, Young-Hwa; Suh, Dong Jin

    2011-01-01

    This is a case report of a 68-year-old man with hepatocellular carcinoma (HCC) accompanied by hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, and hepatic vascular malformation. HHT is an autosomal dominant disorder of the fibrovascular tissue that is characterized by recurrent epistaxis, mucocutaneous telangiectasias, and visceral arteriovenous malformations. HHT is caused by mutation of the genes involved in the signaling pathway of transforming growth f...

  5. Cilioretinal artery occlusion and anterior ischemic optic neuropathy as the initial presentation in a child female carrier of Fabry disease.

    Science.gov (United States)

    Ersoz, M Giray; Ture, Gamze

    2018-04-01

    To report the youngest female carrier of Fabry disease, complicated by cilioretinal artery occlusion and anterior ischemic optic neuropathy (AION). Case report. An 11-year-old girl was referred to our clinic with painless, acute loss of vision in her right eye. Posterior segment examination and fluorescein angiography revealed cilioretinal artery occlusion and AION. Systemic evaluations were unremarkable, except for a low blood α-galactosidase A enzyme level of 242.27 pmol/spot*20 h (reference range: 450-2000 pmol/spot*20 h). The patient was diagnosed with female carrier of Fabry disease. Retinal vascular occlusions are rare in childhood, and Fabry disease may present with retinal vascular occlusion. Ophthalmological examinations may be contributing for early detection of the disease. To the best of our knowledge, this is the first report of a child female carrier of Fabry disease, complicated by cilioretinal artery occlusion and AION.

  6. Ophthalmologic complications of systemic disease.

    Science.gov (United States)

    Klig, Jean E

    2008-02-01

    The human eye, as an organ, can offer critical clues to the presence of systemic disease. This article discusses the various ophthalmologic manifestations of systemic disease that can be evident on examination by an emergency department provider, as well as some findings that can be discerned with specialty consultation. The following topics are reviewed with respect to potential ocular signs and complications: syphilis, herpes zoster, Lyme disease, acquired immunodeficiency syndrome, Reiter's syndrome, Kawasaki's disease, temporal arteritis, endocarditis, hypertension, and diabetes mellitus. Indications for emergent ophthalmologic consultation are also emphasized.

  7. Risk factors for late-stage HIV disease presentation at initial HIV diagnosis in Durban, South Africa.

    Directory of Open Access Journals (Sweden)

    Paul K Drain

    Full Text Available After observing persistently low CD4 counts at initial HIV diagnosis in South Africa, we sought to determine risk factors for late-stage HIV disease presentation among adults.We surveyed adults prior to HIV testing at four outpatient clinics in Durban from August 2010 to November 2011. All HIV-infected adults were offered CD4 testing, and late-stage HIV disease was defined as a CD4 count <100 cells/mm(3. We used multivariate regression models to determine the effects of sex, emotional health, social support, distance from clinic, employment, perceived barriers to receiving healthcare, and foregoing healthcare to use money for food, clothing, or housing ("competing needs to healthcare" on presentation with late-stage HIV disease.Among 3,669 adults screened, 830 were enrolled, newly-diagnosed with HIV and obtained a CD4 result. Among those, 279 (33.6% presented with late-stage HIV disease. In multivariate analyses, participants who lived ≥5 kilometers from the test site [adjusted odds ratio (AOR 2.8, 95% CI 1.7-4.7], reported competing needs to healthcare (AOR 1.7, 95% CI 1.2-2.4, were male (AOR 1.7, 95% CI 1.2-2.3, worked outside the home (AOR 1.5, 95% CI 1.1-2.1, perceived health service delivery barriers (AOR 1.5, 95% CI 1.1-2.1, and/or had poor emotional health (AOR 1.4, 95% CI 1.0-1.9 had higher odds of late-stage HIV disease presentation.Independent risk factors for late-stage HIV disease presentation were from diverse domains, including geographic, economic, demographic, social, and psychosocial. These findings can inform various interventions, such as mobile testing or financial assistance, to reduce the risk of presentation with late-stage HIV disease.

  8. Spontaneous Perforation of Common Bile Duct: A Rare Presentation of Gall Stones Disease

    Directory of Open Access Journals (Sweden)

    Duminda Subasinghe

    2016-01-01

    Full Text Available Background. Spontaneous perforation of the extrahepatic biliary system is a rare presentation of gall stones. Very few cases of bile duct perforation have been reported in adults. It is rarely suspected or correctly diagnosed preoperatively. Case Presentation. A 66-year-old female presented at the surgical emergency with 3 days’ history of severe upper abdominal pain with distension and repeated episodes of vomiting, as she had evidence of generalized peritonitis and underwent an exploratory laparotomy. A single 0.5 cm × 0.5 cm free perforation was present on the anterolateral surface of the common bile duct at the junction of cystic duct. A cholecystectomy and the CBD exploration were performed. Conclusion. Spontaneous perforation of the extrahepatic bile duct is a rare but important presentation of gall stones in adults. Therefore, awareness of the clinical presentation, expert ultrasound examination, and surgery are important aspects in the management.

  9. Hepatic tuberculosis presenting with extreme hyperferritinemia masquerading as adult-onset Still’s disease: a case report

    Directory of Open Access Journals (Sweden)

    Manoj Edirisooriya

    2012-07-01

    Full Text Available Abstract Introduction Isolated hepatic tuberculosis is an uncommon manifestation of one of the most common infections worldwide, caused by Mycobacterium tuberculosis. Extremely high serum ferritin, which is regarded as a marker of adult onset Still’s disease, has not been observed in patients with tuberculosis of the liver. We report a case of hepatic tuberculosis who presented with clinical criteria of adult-onset Still’s disease and extreme hyperferritinemia, which posed a diagnostic confusion. Case presentation Our patient was a 48-year-old Sri Lankan man who presented with fever, polyarthralgia and a generalized skin rash of three months duration. He had marked constitutional symptoms, oral ulcers, hair loss, anemia and hepatomegaly. Laboratory investigations disclosed an inflammatory syndrome, evidence of hepatic dysfunction, bone marrow suppression and a raised serum ferritin level of 34,674 ng/ml. A rapidly deteriorating course of illness prompted treatment based on a presumptive diagnosis of adult-onset Still’s disease until liver histology was available. The patient died of sepsis followed by multi-organ dysfunction. Later, the liver histology revealed tuberculosis. Conclusion Extrapulmonary tuberculosis, although well known to present with peculiar manifestations, has not been reported to be associated with extremely high levels of serum ferritin in immunocompetent individuals. Isolated hepatic tuberculosis presenting with clinical criteria of adult-onset Still’s disease is remarkable. Since tuberculosis remains a potentially curable disease, an awareness of its’ protean manifestations is essential.

  10. Canadian experiences with avian influenza: a look at regional disease control--past, present, and future.

    Science.gov (United States)

    Vaillancourt, J-P

    2009-04-01

    Over the past 5 yr, the poultry industry in Canada has had a few H5 or H7 avian influenza (AI) epidemics. An analysis of these outbreaks by government officials highlighted the need to establish a better partnership between those responsible for controlling the disease and public health officials responsible for protecting the public and those participating in eradication efforts. These officials also agreed that compensations had to be reviewed, that national biosecurity standards needed to be established to better prevent AI, that a national mortality disposal plan was needed, and finally that the current emergency disease management protocols had to be reviewed. Industry representatives stressed the need for early detection and reporting; for more effective tools for decision making, including using local expertise for trace-back activities and quick interventions; for better communications within industry, but mainly between industry and governmental authorities at the federal, provincial, and municipal levels; and finally, for better planning to minimize the impact of eradication efforts on poultry production and for the recovery following the epidemic. These observations triggered a series of initiatives. A National Office of Animal Biosecurity was created by federal authorities, with the mandate to establish national biosecurity standards. A Canadian Animal Health Surveillance Network was also put in place to improve the capacity of early detection of the disease and to increase the surge capacity of the Canadian laboratory system. Wildlife and commercial poultry AI surveillance programs have also been put in place. Provincial poultry grower organizations have established AI control and eradication plans that are increasing their ability to intervene early and to assist government authorities once AI is confirmed in the field. This includes the creation of industry incident command centers with emphasis on confidentiality agreements between government and

  11. Present situation and new strategies for Chagas disease chemotherapy: a proposal

    Directory of Open Access Journals (Sweden)

    José Rodrigues Coura

    2009-07-01

    Full Text Available Treatments for Chagas disease have been administered since the first attempts by Mayer & Rocha Lima (1912, 1914 and up to the drugs currently in use (nifurtimox and benznidazole, along with potential drugs such as allopurinol and first, second and third-generation antifungal agents (imidazoles and triazoles, in separate form. Several diseases such as tuberculosis, leprosy and AIDS only came under control after they were treated with associations of drugs with different mechanisms of action. This not only boosts the action of the different compounds, but also may avoid the development of parasite resistance .To this end, over the short term, we propose experimental studies on laboratory animals and clinical trials with the following associations: (i nifurtimox (8 mg/kg/day + benznidazole (5 mg/kg/day x 60 consecutive days; (ii nifurtimox (8 mg/kg/day or benznidazole (5 mg/kg/day + allopurinol (8-10 mg/kg/day x 60 days and (iii nifurtimox (8 mg/kg/day or benznidazole (5 mg/kg/day + ketoconazole, fluconazole or itraconazole (5-6 mg/kg/day x 60 consecutive days. The doses of the drugs and the treatment schedules for the clinical trials must be adapted according to the side effects. From these, other double or triple associations could be made, using drugs with different mechanisms of action. This proposal does not exclude investigations on new drugs over the median and long terms, targeting other aspects of the metabolism of Trypanosoma cruzi. Until such time as the ideal drug for specific treatment of Chagas disease might be discovered, we need to develop new strategies for achieving greater efficacy with the old drugs in associations and to develop rational experimentation with new drugs.

  12. Racial/Ethnic Differences in the Incidence of Kawasaki Syndrome among Children in Hawai‘i

    Science.gov (United States)

    Christensen, Krista Y; Belay, Ermias D; Steiner, Claudia A; Effler, Paul V; Miyamura, Jill; Forbes, Susan; Schonberger, Lawrence B; Melish, Marian

    2010-01-01

    Objective To describe the occurrence of Kawasaki syndrome (KS) among different racial/ethnic groups in Hawai‘i. Methods Retrospective analysis of children <18 years of age, with a focus on children <5 years of age, living in Hawai‘i who were hospitalized with KS using the 1996–2006 Hawai‘i State Inpatient Data. Results Children <5 years of age accounted for 84% of the 528 patients <18 years of age with KS. The average annual incidence among this age group was 50.4 per 100,000 children <5 years of age, ranging from 45.5 to 56.5. Asian and Pacific Islander children accounted for 92% of the children <5 years of age with KS during the study period; the average annual incidence was 62.9 per 100,000. Within this group, Japanese children had the highest incidence (210.5), followed by Native Hawaiian children (86.9), other Asian children (84.9), and Chinese children (83.2). The incidence for white children (13.7) was lower than for these racial/ethnic groups. The median age of KS admission for children <5 years of age was 21 months overall, 24 months for Japanese children, 14.5 months for Native Hawaiian children and 26.5 months for white children. Conclusions The high average annual KS incidence for children <5 years of age in Hawai‘i compared to the rest of the United States population reflects an increased KS incidence among Asian and Pacific Islander children, especially Japanese children. The incidence for white children was slightly higher than or similar to that generally reported nationwide. PMID:20845285

  13. Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations.

    Science.gov (United States)

    Core, Jason Q; Mehrabi, Mehrsa; Robinson, Zachery R; Ochs, Alexander R; McCarthy, Linda A; Zaragoza, Michael V; Grosberg, Anna

    2017-01-01

    Nuclear shape defects are a distinguishing characteristic in laminopathies, cancers, and other pathologies. Correlating these defects to the symptoms, mechanisms, and progression of disease requires unbiased, quantitative, and high-throughput means of quantifying nuclear morphology. To accomplish this, we developed a method of automatically segmenting fluorescently stained nuclei in 2D microscopy images and then classifying them as normal or dysmorphic based on three geometric features of the nucleus using a package of Matlab codes. As a test case, cultured skin-fibroblast nuclei of individuals possessing LMNA splice-site mutation (c.357-2A>G), LMNA nonsense mutation (c.736 C>T, pQ246X) in exon 4, LMNA missense mutation (c.1003C>T, pR335W) in exon 6, Hutchinson-Gilford Progeria Syndrome, and no LMNA mutations were analyzed. For each cell type, the percentage of dysmorphic nuclei, and other morphological features such as average nuclear area and average eccentricity were obtained. Compared to blind observers, our procedure implemented in Matlab codes possessed similar accuracy to manual counting of dysmorphic nuclei while being significantly more consistent. The automatic quantification of nuclear defects revealed a correlation between in vitro results and age of patients for initial symptom onset. Our results demonstrate the method's utility in experimental studies of diseases affecting nuclear shape through automated, unbiased, and accurate identification of dysmorphic nuclei.

  14. Diagnosis and management of Alzheimer's disease: past, present and future ethical issues.

    Science.gov (United States)

    Gauthier, S; Leuzy, A; Racine, E; Rosa-Neto, P

    2013-11-01

    There is great interest in the ethical issues associated with Alzheimer's disease (AD) and related dementias given the prevalence of AD and the evolving neuroscience landscape in matters of diagnoses and therapeutics. Much of the ethics discussion arises in the tension between the principle of not doing harm (principle of non-maleficence) in this vulnerable population and the development of effective treatments (principle of beneficence). Autonomy and capacity issues are also numerous, wide-ranging, and concern (1) day to day affairs such as driving safely and spending money wisely, (2) life-time events such as designating a legal representative in case of incapacity, making a will, (3) consenting to treatment and diagnostic procedures, (4) participating in research. The latter issue is particularly thorny and illustrates well the complexity of tackling concerns related to capacity. The impetus to protect AD patients has partly led to ethics regulation and policies making research on inapt patients more difficult because of stringent requirements for signed informed consent or for showing the value of the research to this specific patient population. New issues are arising that relate to earlier diagnosis using biomarkers and (possibly soon) the use of drugs that modify disease progression. We here summarize and discuss the different ethical issues associated with AD from a historical perspective, with emphasis on diagnostic and treatments issues. Copyright © 2013 Elsevier Ltd. All rights reserved.

  15. Zika virus infection: Past and present of another emerging vector-borne disease.

    Science.gov (United States)

    Sakkas, Hercules; Economou, Vangelis; Papadopoulou, Chrissanthy

    2016-01-01

    Zika virus infection is an emerging mosquito-borne disease, first identified in Uganda in 1947. It is caused by the Zika arbovirus, and transmitted by the bites of infected mosquitoes of the genus Aedes. For almost half a century, the Zika virus was reported as the causative agent of sporadic human infections. In 2007, the Zika virus emerged outside Asia and Africa causing an epidemic on the Island of Yap in Micronesia. The manifestation of the newly acquired human infection varies from asymptomatic to self-limiting acute febrile illness with symptoms and clinical features similar to those caused by the Dengue virus ('Dengue-like syndrome'). The real-time PCR and serological methods have been successfully applied for the diagnosis of the disease. The treatment is symptomatic, since there is no specific antiviral treatment or a vaccine. During the recent outbreaks in French Polynesia and Brazil, incidents of Guillain-Barrι syndrome and microcephaly were associated with Zika virus infection, giving rise to fears of further global spread of the virus. Prevention and vector control strategies have to be urgently implemented by national health authorities in order to contain future outbreaks in vulnerable populations. This review summarizes the existing information on Zika virus characteristics, pathogenesis and epidemiology, the available methods for the diagnosis of Zika virus infection and recent approaches for prevention and control.

  16. Acquired hepatocerebral degeneration and hepatic encephalopathy: correlations and variety of clinical presentations in overt and subclinical liver disease

    Directory of Open Access Journals (Sweden)

    Fernando G. Romeiro

    2011-06-01

    Full Text Available Acquired hepatocerebral degeneration (AHD and hepatolenticular degeneration can have similar clinical presentations, but when a chronic liver disease and atypical motor findings coexist, the distinction between AHD and hepatic encephalopathy (HE can be even more complicated. We describe three cases of AHD (two having HE with different neuroimaging findings, distinct hepatic diseases and similar motor presentations, all presenting chronic arterial hypertension and weight loss before the disease manifestations. The diagnosis and physiopathology are commented upon and compared with previous reports. In conclusion, there are many correlations among HE, hepatolenticular degeneration and AHD, but the overlapping of AHD and HE could be more common depending on the clinical knowledge and diagnostic criteria adopted for each condition. Since AHD is not considered a priority that affects the liver transplant list, the prognosis in AHD patients remains poor, and flow interruption in portosystemic shunts must always be taken into account.

  17. Presentations and treatment of childhood scleroderma: localized scleroderma, eosinophilic fasciitis, systemic sclerosis, and graft-versus-host disease.

    Science.gov (United States)

    Hedrich, Christian Michael; Fiebig, Barbara; Hahn, Gabriele; Suttorp, Meinolf; Gahr, Manfred

    2011-07-01

    Juvenile scleroderma is a rare connective tissue disease that involves the skin and subcutaneous tissue. Among all presentations of juvenile scleroderma, localized scleroderma (JLSc) is the most frequent, followed by systemic disease (JSSc) and eosinophilic fasciitis (EF). In posttransplantation chronic graft-versus-host disease (GvHD), scleroderma-like skin involvement can occur. Systemic forms of juvenile scleroderma and GvHD can affect the internal organs, such as the lungs, the gastrointestinal tract, the heart, and kidneys and cause disability and severe, sometimes lethal, complications. Here, the authors give an overview of different presentations of juvenile scleroderma. They report their experience with the different forms and presentations of scleroderma, diagnostic workups, treatment, and outcome of all forms of childhood scleroderma in the context of the existing literature.

  18. The Prevalence of Anti-Aquaporin 4 Antibody in Patients with Idiopathic Inflammatory Demyelinating Diseases Presented to a Tertiary Hospital in Malaysia: Presentation and Prognosis

    Directory of Open Access Journals (Sweden)

    S. Abdullah

    2017-01-01

    Full Text Available Background. There have been inconsistent reports on the prevalence and pathogenicity of anti-Aquaporin 4 (AQP4 in patients presented with idiopathic inflammatory demyelinating diseases (IIDDs. Objective. To estimate the prevalence of anti-AQP4 antibody in patients with IIDDs presented to University Malaya Medical Centre in terms of patients’ clinical and radiological presentations and prognoses. Methods. Retrospective data review of IIDDs patients presented from 2005 to 2015. Patients were classified into classical multiple sclerosis (CMS, opticospinal (OS presentation, optic neuritis (ON, transverse myelitis (TM, brainstem syndrome (BS, and tumefactive MS. Anti-Aquaporin 4 antibody was tested using the Indirect Immunofluorescence Test (IIFT cell-based assay. Statistical analysis was done using the SPSS version 20. Results. Anti-AQP4 antibody was detected in 53% of patients presented with IIDDs. CMS was more common in the seronegative group, 27/47 (57.45%; p<0.001. Conversely, OS involvement was more common in the seropositive group, 26/53 (49.06%; p<0.001. Longitudinally extensive spinal cord lesions (LESCLs on MRI were also more common in the seropositive group, 29/40 (72.50%; p=0.004. Only 2/40 (5.00% had MRI evidence of patchy or multiple short-segment spinal cord lesions in the AQP4-positive group (p=0.003. The relapse rate and Expanded Disability Status Scale (EDSS were also higher in the seropositive group (5.43 versus 3.17, p=0.005; 4.07 versus 2.51, p=0.006, resp.. Typical clinical presentations that defined NMO were also seen in the seronegative patients, but in a lower frequency. Conclusion. Our cohort of patients had a higher prevalence of seropositivity of anti-AQP4 antibody as compared to those in Western countries. This was also associated with a more typical presentation of opticospinal involvement with LESCLs on MRI, a higher rate of relapse, and EDSS.

  19. Orbital Pseudotumor: Uncommon Initial Presentation of IgG4-Related Disease

    Directory of Open Access Journals (Sweden)

    Teresa Carbone

    2015-01-01

    Full Text Available IgG4-related disease (IgG4-RD encompasses a group of fibroinflammatory conditions recognized in recent times. The main clinical features include variable degrees of tissue fibrosis, tumorlike expansions, perivascular lymphocytic infiltration rich in IgG4-positive plasma cells, and elevated serum IgG4. A case has been reported of an elderly patient with an unexplained unilateral exophthalmia; biopsy was performed and revealed lymphocytic infiltration, suggesting IgG4-RD. High serum levels of IgG4, in association with a good response to steroid therapy and to the exclusion of other diagnoses, confirmed the hypothesis of orbital pseudotumor by IgG4-RD.

  20. The glymphatic system in CNS health and disease: past, present and future

    Science.gov (United States)

    Plog, Benjamin A.; Nedergaard, Maiken

    2018-01-01

    The central nervous system (CNS) is unique in being the only organ system lacking lymphatic vessels to assist in the removal of interstitial metabolic waste products. Recent work has led to the discovery of the glymphatic system, a glial-dependent perivascular network that subserves a pseudo-lymphatic function in the brain. Within the glymphatic pathway, cerebrospinal fluid (CSF) enters brain via periarterial spaces, passes into the interstitium via perivascular astrocytic aquaporin-4, and then drives the perivenous drainage of interstitial fluid (ISF) and its solute. Here we review the role of the glymphatic pathway in CNS physiology, factors known to regulate glymphatic flow, and pathologic processes where a breakdown of glymphatic CSF-ISF exchange has been implicated in disease initiation and progression. Important areas of future research, including manipulation of glymphatic activity aiming to improve waste clearance and therapeutic agent delivery, will also be discussed. PMID:29195051

  1. The Glymphatic System in Central Nervous System Health and Disease: Past, Present, and Future.

    Science.gov (United States)

    Plog, Benjamin A; Nedergaard, Maiken

    2018-01-24

    The central nervous system (CNS) is unique in being the only organ system lacking lymphatic vessels to assist in the removal of interstitial metabolic waste products. Recent work has led to the discovery of the glymphatic system, a glial-dependent perivascular network that subserves a pseudolymphatic function in the brain. Within the glymphatic pathway, cerebrospinal fluid (CSF) enters the brain via periarterial spaces, passes into the interstitium via perivascular astrocytic aquaporin-4, and then drives the perivenous drainage of interstitial fluid (ISF) and its solute. Here, we review the role of the glymphatic pathway in CNS physiology, the factors known to regulate glymphatic flow, and the pathologic processes in which a breakdown of glymphatic CSF-ISF exchange has been implicated in disease initiation and progression. Important areas of future research, including manipulation of glymphatic activity aiming to improve waste clearance and therapeutic agent delivery, are also discussed.

  2. PRESENTATION AND MANAGEMENT OF PERFORATED PEPTIC ULCER DISEASE IN A TERTIARY CENTRE IN SOUTH SOUTH NIGERIA.

    Science.gov (United States)

    Dodiyi-Manuel, A; Wichendu, P N; Enebeli, V C

    2015-01-01

    Perforations of the stomach and duodenum are common complications of peptic ulcer disease (PUD), abuse of non steroidal anti inflammatory drugs (NSAIDS) and gastric cancer. Being a life threatening complication of PUD, it needs special attention with prompt resuscitation and appropriate surgical management if morbidity and mortality are to be avoided. To determine the pattern and management outcome of perforated peptic ulcer disease PUD as seen in University of Port Harcourt Teaching Hospital (UPTH), Port Harcourt, Rivers State, Nigeria). All the patients with perforated PUD that were managed at UPTH between January 2006 and December 2014 were studied. Relevant data were extracted from the case notes and analysed using the Statistical Package for Social Sciences (SPSS) version 17. Thirty six patients with perforated PUD were evaluated consisting of 28 males and 8 females with a male to female ratio of 3.5:1. Their ages ranged from 24 to 65 years with a mean of 42.1± 12.3 years and the peak age was at the third decade. After adequate resuscitation, all the patients had exploratory laparotomy. In 26 (72.2%) patients, the perforation was in the duodenum while in 10 (27.8%), it was in the stomach. Thirty two (88.9%) patients had Graham's omental patch repair of the perforation while simple closure only was done in 4 (11.1%) patients. Surgical site infection was the commonest post operative complication which was seen in 7 (19.4%) patients while 4 patients died giving a mortality rate of 11.1%. Perforated peptic ulcer predominantly affected young males and Graham's omental patch followed by Helicobacter pylori eradication was an effective treatment modality.

  3. Persistently and asymptomatic raised liver enzymes as a form of presentation of Wilson's disease at pediatric age

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    Catarina Matos

    2015-06-01

    Full Text Available Background: Wilson`s disease is a rare autosomal recessive disorder characterized by a change in the transport of copper in the liver, with progressive accumulation in this and other organs such as brain, kidney and cornea. Phenotypic expression of the disease varies widely and can range from elevated liver enzymes, fatty liver or gallstones in asymptomatic patients, to cirrhosis and fulminant hepatic failure, or disabling neuropsychiatric disease. Aim: To characterize a sample of patients with Wilson´s disease. Patients and Methods: Retrospective survey including children diagnosed with Wilson´s disease between 2002 and 2011 according to the criteria of the European Association for the Study of the Liver (2012. We analyzed family history; age, clinical data, imaging and histology at the time of diagnosis; genetic analysis; treatment and side effects; follow-up and current status. Results: We identified five patients. Three had a family history of disease. All were asymptomatic and had maintained raised liver enzymes. No patient had clinical stigmata of chronic liver disease. One female patient had overweight. All were treated with D-penicillamine, withdrawn in two patients because of side effects. Currently all patients remain asymptomatic, without evidence of progression of liver disease, with a median follow-up of 5 years and 3 months. Discussion: Our series show that Wilson´s disease may be present with raised liver enzymes in asymptomatic children. The overweight patient alerts us to screen the disease in overweight/obese patients with raised liver enzymes and/or steatosis persisting for more than six months after weight loss.

  4. Primary pigmented nodular adrenocortical disease presenting with a unilateral adrenocortical nodule treated with bilateral laparoscopic adrenalectomy: a case report

    Directory of Open Access Journals (Sweden)

    Kaltsas Gregory

    2010-07-01

    Full Text Available Abstract Introduction Primary pigmented nodular adrenocortical disease is a rare cause of adrenocorticotropic hormone-independent Cushing's syndrome. We report an uncommon primary pigmented nodular adrenocortical disease case presenting with a unilateral adrenocortical nodule and provide a brief overview of the existing literature. Case presentation A 27-year-old Caucasian woman was admitted to our Department with adrenocorticotropic hormone-independent Cushing's syndrome. Its cause was initially considered a left adrenocortical adenoma based on computer tomography imaging. The patient underwent left laparoscopic adrenalectomy and histological examination revealed pigmented micronodular adrenal hyperplasia. Evaluation for the presence of Carney complex was negative. Six months later recurrence of hypercortisolism was documented and a right laparoscopic adrenalectomy was performed further establishing the diagnosis of primary pigmented nodular adrenocortical disease. After a nine-year follow-up there is no evidence of residual disease. Conclusions Even though primary pigmented nodular adrenocortical disease is a rare cause of Cushing's syndrome, it should be included in the differential diagnosis of adrenocorticotropic hormone-independent Cushing's syndrome, especially because adrenal imaging can be misleading mimicking other adrenocortical diseases. Bilateral laparoscopic adrenalectomy is the preferred treatment in these subjects.

  5. An alarming presentation of Creutzfeldt-Jakob disease following a self-inflicted gunshot wound to the head.

    Science.gov (United States)

    Harnish, Carissa; Gross, Brian; Rittenhouse, Katelyn; Bupp, Katherine; Vellucci, Ashley; Anderson, Jeffrey; Riley, Deborah; Rogers, Frederick B

    2015-05-01

    Transmissible spongiform encephalopathies (TSE), also known as prion diseases, are characterized by rapid and fatal neurological decline. They not only detrimentally affect the patient, but also present additional challenges to healthcare systems due to the infectivity of the tissues and the difficulty of inactivating the prion. The most common TSE is Creutzfeldt-Jakob disease (CJD), which can occur after familial, spontaneous or acquired transmission. TSEs received more attention after the development of variant CJD (vCJD), also known as Mad Cow Disease, in the UK during the mid-1990s. Unlike familial or spontaneous CJD, this variant was connected to consumption of cattle contaminated with the prion disease, bovine spongiform encephalopathy.This development increased interest in the etiology of CJD and other TSEs and the risk it presents as an infectious disease. The following details the case of a 59-year-old male infected with CJD presented to our level II trauma center for treatment following a self-inflicted gunshot wound to the head. Copyright © 2014 Elsevier Ltd. All rights reserved.

  6. Lithium-induced Nephrotoxicity: A Case Report of Renal Cystic Disease Presenting as a Mass Lesion

    Directory of Open Access Journals (Sweden)

    Yvonne McCartney

    2014-11-01

    Full Text Available Lithium is an effective therapeutic agent used in the management of bipolar disorder. However, lithium is also associated with several side effects, including renal toxicity. We present a case of a symptomatic cystic mass lesion in the kidney of a patient who had a history of lithium therapy for the management of bipolar disorder.

  7. Application of stem cell-derived retinal pigmented epithelium in retinal degenerative diseases: present and future

    Directory of Open Access Journals (Sweden)

    Mingyue Luo

    2018-01-01

    Full Text Available As a constituent of blood-retinal barrier and retinal outer segment (ROS scavenger, retinal pigmented epithelium (RPE is fundamental to normal function of retina. Malfunctioning of RPE contributes to the onset and advance of retinal degenerative diseases. Up to date, RPE replacement therapy is the only possible method to completely reverse retinal degeneration. Transplantation of human RPE stem cell-derived RPE (hRPESC-RPE has shown some good results in animal models. With promising results in terms of safety and visual improvement, human embryonic stem cell-derived RPE (hESC-RPE can be expected in clinical settings in the near future. Despite twists and turns, induced pluripotent stem cell-derived RPE (iPSC-RPE is now being intensely investigated to overcome genetic and epigenetic instability. By far, only one patient has received iPSC-RPE transplant, which is a hallmark of iPSC technology development. During follow-up, no major complications such as immunogenicity or tumorigenesis have been observed. Future trials should keep focusing on the safety of stem cell-derived RPE (SC-RPE especially in long period, and better understanding of the nature of stem cell and the molecular events in the process to generate SC-RPE is necessary to the prosperity of SC-RPE clinical application.

  8. Application of stem cell-derived retinal pigmented epithelium in retinal degenerative diseases: present and future.

    Science.gov (United States)

    Luo, Mingyue; Chen, Youxin

    2018-01-01

    As a constituent of blood-retinal barrier and retinal outer segment (ROS) scavenger, retinal pigmented epithelium (RPE) is fundamental to normal function of retina. Malfunctioning of RPE contributes to the onset and advance of retinal degenerative diseases. Up to date, RPE replacement therapy is the only possible method to completely reverse retinal degeneration. Transplantation of human RPE stem cell-derived RPE (hRPESC-RPE) has shown some good results in animal models. With promising results in terms of safety and visual improvement, human embryonic stem cell-derived RPE (hESC-RPE) can be expected in clinical settings in the near future. Despite twists and turns, induced pluripotent stem cell-derived RPE (iPSC-RPE) is now being intensely investigated to overcome genetic and epigenetic instability. By far, only one patient has received iPSC-RPE transplant, which is a hallmark of iPSC technology development. During follow-up, no major complications such as immunogenicity or tumorigenesis have been observed. Future trials should keep focusing on the safety of stem cell-derived RPE (SC-RPE) especially in long period, and better understanding of the nature of stem cell and the molecular events in the process to generate SC-RPE is necessary to the prosperity of SC-RPE clinical application.

  9. [The association of fibromyalgia and systemic lupus erythematosus change the presentation and severity of both diseases?].

    Science.gov (United States)

    de Araújo, Ana Luiza P Kasemodel; Paliares, Isabella Cristina; de Araújo, Maria Izabel P Kasemodel; Novo, Neil Ferreira; Cadaval, Ricardo Augusto M; Martinez, José Eduardo

    2015-01-01

    The association of fibromyalgia (FM) and systemic lupus erythematosus (SLE) have been investigated, with conflicting results regarding the impact of a condition on the other. To determine the frequency of FM in a sample of patients with SLE treated at the Hospital Complex of Sorocaba (CHS) and the impact of FM in SLE activity and quality of life, as well as of SLE in FM. Descriptive and correlational study. Patients who met the American College of Rheumatology (ACR) criteria for SLE and/or FM were included. The total sample was divided into three groups: FM/SLE (patients with association of SLE and FM), SLE (SLE patients only) and FM (FM patients only). The following variables were used: Fibromyalgia Impact Questionnaire (FIQ), activity index of SLE (SLEDAI), Indices of Diagnostic Criteria for Fibromyalgia 2010 (SSI end GPI) and SF-36. The prevalence of patients with FM among SLE patients was 12%. FIQ showed no difference between groups, indicating that SLE did not affect the impact caused by FM alone. The presence of FM in SLE patients did not influence the clinical activity of this disease. A strong impact of FM on the quality of life in patients with SLE was observed; the opposite was not observed. The prevalence of FM observed in SLE patients is 12%. The presence of FM adversely affects the quality of life of patients with SLE. Copyright © 2014 Elsevier Editora Ltda. All rights reserved.

  10. [Two cases of Vogt-Koyanagi-Harada disease presenting shallow anterior chamber].

    Science.gov (United States)

    Takemoto, Daisuke; Ijiri, Shigeyuki; Shimizu, Michiharu; Higashide, Tomomi; Sugiyama, Kazuhisa

    2015-05-01

    We report two cases of Vogt-Koyanagi-Harada disease (VKH) in which shallow anterior chambers were improved after steroid pulse therapy. The patients were women aged 65 and 72. They had headaches, decreased visual acuity and shallow anterior chamber in both eyes. There was no inflammation in the anterior chamber. Ultrasound biomicroscopy (UBM) showed ciliary edema, ciliochoroidal detachment, and angle closure. One case showed high intraocular pressure (IOP), and a diagnosis of acute primary angle closure was made. Although cataract surgery was performed in the left eye, postoperative optical coherence tomography (OCT) revealed serous retinal detachment in both eyes. The shallow anterior chamber and UBM findings were improved and serous retinal detachment disappeared after steroid pulse therapy in both cases. VKH may cause shallow anterior chamber and angle closure. The inflammatory changes of VKH in the anterior segment, i. e. ciliary edema and ciliochoroidal detachment, may exacerbate the shallow anterior chambers and narrow angles and result in an acute increase in IOP in eyes with short axial length. VKH associated with shallow anterior chamber may be misdiagnosed as acute primary angle closure. For differential diagnosis, examinations of the ocular fundus including OCT are useful.

  11. Idiopathic mitral valve disease in a patient presenting with Axenfeld-Rieger syndrome.

    Science.gov (United States)

    Antevil, Jared; Umakanthan, Ramanan; Leacche, Marzia; Brewer, Zachary; Solenkova, Natalia; Byrne, John G; Greelish, James P

    2009-05-01

    A 33-year-old, previously healthy male presented with respiratory distress and underwent intubation. A physical examination revealed a holosystolic murmur and pupillary abnormalities. Echocardiography revealed a flail anterior mitral valve leaflet with ruptured chordae and severe mitral regurgitation. The patient underwent urgent mitral valve replacement and tolerated the procedure well. The mitral valve leaflet was myxomatous and calcified -- an unusual find in such a patient. An ophthalmology consultation was obtained and the patient diagnosed with Axenfeld-Rieger syndrome, a disorder of the anterior ocular chamber that has been associated with cardiac malformations. The present case report adds to the body of literature which suggests a correlation between Axenfeld-Rieger syndrome and valvular abnormalities. Hence, it is believed prudent that patients with Axenfeld-Rieger syndrome should undergo echocardiographic screenings for valvular abnormalities.

  12. MM1+2C sporadic Creutzfeldt-Jakob disease presenting as rapidly progressive nonfluent aphasia.

    Science.gov (United States)

    Allegri, Ricardo F; Bartoloni, Leonardo; Iturry, Mónica; Romero, Carlos; Begué, Christián; Sevlever, Gustavo; Taratuto, Ana Lía

    2014-01-01

    We report a 77-year-old man, presenting with progressive aphasia as an initial symptom, who developed severe dementia over the course of 20 months. Frontal cortex PrPSc western blot was type 2 and codon 129 was MM; brain neuropathology showed cortical vacuoles with perivacuolar PrP immunostaining characteristic of MM2C. Cerebellum showed focal coarse, patchy staining in different sections of the molecular layer, diffuse fine punctuate and coarse PrP immunopositive deposits in the granule cell layer, and focal synaptic immunostaining in the molecular layer, suggestive of MM1+2C by histotyping. This clinical presentation has not yet been described in an MM1+2C subtype by histotyping.

  13. Isolated ileal perforation in infancy: a lethal initial presentation of Hirschsprung’s disease

    Directory of Open Access Journals (Sweden)

    Fadi Iskandarani

    2017-06-01

    Full Text Available A rare case of ileal perforation, as a fatal initial presentation of total colonic aganglionosis (TCA in infancy is reported. A 10-week-old boy, was brought to the emergency department with symptoms of complicated intestinal obstruction. He looked ill, was lethargic, markedly dehydrated and had a severely distended abdomen. An abdominal X-ray revealed multiple air fluid levels seen in a distended small intestine. During exploratory laparotomy the ileum was massively dilated with distal segment perforation. Ileal perforation repair was performed. A totally collapsed microcolon was identified. Biopsies were taken from the high rectum, sigmoid and hepatic flexure. Appendectomy and ileostomy were performed. All biopsies, as well as the appendix, showed absence of ganglion cells. Despite this procedure the patient progressively deteriorated and later died due to sepsis. Ileal perforation in infants is a rare, but potentially fatal initial presentation of TCA. Early detection is essential to prevent life-threatening complications.

  14. Aggressive natural killer-cell leukemia: Classical presentation of a rare disease

    Directory of Open Access Journals (Sweden)

    Priya M Jacob

    2014-01-01

    Full Text Available Aggressive natural killer-cell leukaemia is a rare aggressive form of natural killer-cell neoplasm. We report a case of a 40-year-old male who presented with jaundice, raised blood counts,generalised lymphadenopathy and hepatosplenomegaly. The diagnosis was established by flow cytometric analysis of bone marrow aspirate. The patient, however, succumbed to his illness within 2 weeks of starting chemotherapy. To the best of our knowledge, this is the third reported case from India.

  15. Secondary Pulmonary Hypertension and Right-Sided Heart Failure at Presentation in Grave's Disease

    OpenAIRE

    Ganeshpure, Swapnil Panjabrao; Vaidya, Gaurang Nandkishor; Gattani, Vipul

    2012-01-01

    A young female presented with evidence of right-sided heart failure and was subsequently found to have significant pulmonary artery hypertension (PAH). Because of her normal left ventricular function and pulmonary capillary wedge pressure, the most probable site of etiology seemed to be the pulmonary vasculature. All the common possible secondary causes of PAH were ruled out, but during the investigations, she was found to have elevated thyroid function tests compatible with the diagnosis of...

  16. Temporal shifts in clinical presentation and underlying mechanisms of atherosclerotic disease.

    Science.gov (United States)

    Pasterkamp, Gerard; den Ruijter, Hester M; Libby, Peter

    2017-01-01

    The concept of the 'vulnerable plaque' originated from pathological observations in patients who died from acute coronary syndrome. This recognition spawned a generation of research that led to greater understanding of how complicated atherosclerotic plaques form and precipitate thrombotic events. In current practice, an increasing number of patients who survive their first event present with non-ST-segment elevation myocardial infarction (NSTEMI) rather than myocardial infarction (MI) with ST-segment elevation (STEMI). The culprit lesions that provide the pathological substrate for NSTEMI can vary considerably from the so-called 'vulnerable plaque'. The shift in clinical presentation of MI and stroke corresponds temporally to a progressive change in the characteristics of human plaques away from the supposed characteristics of vulnerability. These alterations in the structure and function of human atherosclerotic lesions might mirror the modifications that are produced in experimental plaques by lipid lowering, inspired by the vulnerable plaque construct. The shift in the clinical presentations of the acute coronary syndromes mandates a critical reassessment of the underlying mechanisms, proposed risk scores, the results and interpretation of preclinical experiments, as well as recognition of the limitations of the use of population data and samples collected before the application of current preventive interventions.

  17. Identifying asthma and chronic obstructive pulmonary disease in patients with persistent cough presenting to general practitioners : descriptive study

    NARCIS (Netherlands)

    Thiadens, HA; de Bock, GH; Deker, FW; Huysman, JAN; Springer, MP; Postma, DS

    1998-01-01

    Objective: To determine the prevalence of asthma and chronic obstructive pulmonary disease in patients not known to have these disorders, who present in general practice with persistent cough, and to ascertain criteria to help general practitioners in diagnosis. Design: Descriptive study. Setting:

  18. Arterial tortuosity syndrome: An extremely rare disease presenting as a mimic of pulmonary sling

    Directory of Open Access Journals (Sweden)

    Amy Farkas, MD

    2018-02-01

    Full Text Available Pulmonary sling is the anatomic variant defined by the aberrant origin of the left pulmonary artery from the right pulmonary artery. This patient presented with a mimic of pulmonary sling as a result of an extremely rare condition, arterial tortuosity syndrome (ATS. The patient was first diagnosed with pulmonary sling on prenatal echocardiogram performed by cardiology. Computed tomography angiography of the chest obtained at birth to evaluate respiratory depression demonstrated ATS. The early detection of ATS has been demonstrated to improve patient outcome. This case provides an overview of the typical imaging features of ATS to aid radiologists in making this uncommon diagnosis.

  19. Clinical presentations and outcomes of patients with Ebola virus disease in Freetown, Sierra Leone.

    Science.gov (United States)

    Ji, Ying-Jie; Duan, Xue-Zhang; Gao, Xu-Dong; Li, Lei; Li, Chen; Ji, Dong; Li, Wen-Gang; Wang, Li-Fu; Meng, Yu-Hua; Yang, Xiao; Ling, Bin-Fang; Song, Xue-Ai; Gu, Mei-Lei; Jiang, Tao; Koroma, She-Ku M; Bangalie, James; Duan, Hui-Juan

    2016-11-03

    Clinical and laboratory data were collected and analysed from patients with Ebola virus disease (EVD) in Jui Government Hospital in Freetown, Sierra Leone, where patients with EVD were received and/or treated from October 1, 2014 to March 21, 2015 during the West Africa EVD outbreak. The study admitted 285 patients with confirmed EVD and followed them up till the endpoint (recovery or death). EVD was confirmed by quantitative RT-PCR assays detecting blood Ebola virus (EBOV). Among the 285 lab-confirmed EVD cases in Jui Government Hospital, 146 recovered and 139 died, with an overall survival rate of 51.23 %. Patients under the age of 6 years had a lower survival rate (37.50 %). Most non-survivors (79.86 %) died within 7 days after admission and the mean hospitalization time for non-survivors was 5.56 ± 6.11 days. More than half survivors (63.69 %) turned blood EBOV negative within 3 weeks after admission and the mean hospitalization time for survivors was 20.38 ± 7.58 days. High blood viral load (≥10 6 copies/ml) was found to be predictive of the non-survival outcome as indicated by the Receiver Operating Characteristic (ROC) curve analysis. The probability of patients' survival was less than 15 % when blood viral load was greater than 10 6 copies/ml. Multivariate analyses showed that blood viral load (P = 0.005), confusion (P = 0.010), abdominal pain (P = 0.003), conjunctivitis (P = 0.035), and vomiting (P = 0.004) were factors independently associated with the outcomes of EVD patients. Most death occurred within 1 week after admission, and patients at the age of 6 or younger had a lower survival rate. Most surviving patients turned blood EBOV negative within 1-4 weeks after admission. Factors such as high blood viral load, confusion, abdominal pain, vomiting and conjunctivitis were associated with poor prognosis for EVD patients.

  20. Late onset ‘en coup de sabre’ following trauma: Rare presentation of a rare disease

    Directory of Open Access Journals (Sweden)

    Tasleem Arif

    2015-01-01

    Full Text Available En coup de sabre (linear scleroderma of face is a rare type of morphea (localized scleroderma involving frontoparietal area of the forehead and scalp. Many triggering factors have been implicated in the development of morphea like trauma, immobilization, bacille Calmette–Guérin (BCG vaccination, injections of vitamin K, mechanical compression from clothing, etc. Linear scleroderma primarily affects the pediatric population, with 67% of patients diagnosed before 18 years of age. In this article, we describe a case of 26 year old female who presented with a three months history of brownish indurated plaque of skin on the frontal and forehead regions of the head. The patient gave a history of trauma at the same site six years back. The diagnosis of morphea was made clinically supported by histopathological features of the skin biopsy. Her neurological examination was normal. ANA was negative. Brain MRI didn’t reveal any abnormality. She was treated with topical tacrolimus 0.1% ointment. The late onset en coup de sabre is a rare presentation and hence reported.

  1. Koch’s Disease Presenting as an Isolated Testicular Mass- An Unusual Occurance

    Science.gov (United States)

    Das, Deepak; Sherpa, Mingma

    2014-01-01

    Isolated testicular tuberculosis (TB) is rarely seen. A 72-year-old, farmer presented with complaints of discharging sinus from scrotum along with pain and swelling. The patient had no sign of tuberculosis. On examination a hard mass arising from the left testis was noted along with a discharging fistula on the overlying scrotal skin. Chest x-ray and ultrasound examination of the abdomen were within normal limits. After assessing the testicular mass, an informed consent was taken thereafter left orchiectomy and fistulectomy performed. Histopathological examination revealed caseating granulomas along with numerous Langhan’s giant cells consistent with tuberculous orchitis. The patient received anti-TB treatment for six months. The rare involvement of testis by tuberculosis needs to be mentioned. PMID:25386448

  2. Koch's Disease Presenting as an Isolated Testicular Mass- An Unusual Occurance.

    Science.gov (United States)

    Lamichaney, Rachna; Das, Deepak; Sherpa, Mingma

    2014-09-01

    Isolated testicular tuberculosis (TB) is rarely seen. A 72-year-old, farmer presented with complaints of discharging sinus from scrotum along with pain and swelling. The patient had no sign of tuberculosis. On examination a hard mass arising from the left testis was noted along with a discharging fistula on the overlying scrotal skin. Chest x-ray and ultrasound examination of the abdomen were within normal limits. After assessing the testicular mass, an informed consent was taken thereafter left orchiectomy and fistulectomy performed. Histopathological examination revealed caseating granulomas along with numerous Langhan's giant cells consistent with tuberculous orchitis. The patient received anti-TB treatment for six months. The rare involvement of testis by tuberculosis needs to be mentioned.

  3. A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture

    Directory of Open Access Journals (Sweden)

    Ji-Yeon Song

    2017-09-01

    Full Text Available Cushing disease in children and adolescents, especially with multiple pituitary adenomas (MPAs, is very rare. We report 17-year-old boy with MPAs. He presented with a vertebral compression fracture, weight gain, short stature, headache, and hypertension. On magnetic resonance imaging (MRI, only a left pituitary microadenoma was found. After surgery, transient clinical improvement was observed but headache and hypertension were observed again after 3 months later. Follow-up MRI showed a newly developed right pituitary microadenoma 6 months after the surgery. The need for careful clinical and radiographic follow-up should be emphasized in the search for potential MPAs in patients with persistent Cushing disease.

  4. A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture.

    Science.gov (United States)

    Song, Ji-Yeon; Mun, Sue-Jean; Sung, Soon-Ki; Hwang, Jae-Yeon; Baik, Seung-Kug; Kim, Jee Yeon; Cheon, Chong-Kun; Kim, Su-Young; Kim, Yoo-Mi

    2017-09-01

    Cushing disease in children and adolescents, especially with multiple pituitary adenomas (MPAs), is very rare. We report 17-year-old boy with MPAs. He presented with a vertebral compression fracture, weight gain, short stature, headache, and hypertension. On magnetic resonance imaging (MRI), only a left pituitary microadenoma was found. After surgery, transient clinical improvement was observed but headache and hypertension were observed again after 3 months later. Follow-up MRI showed a newly developed right pituitary microadenoma 6 months after the surgery. The need for careful clinical and radiographic follow-up should be emphasized in the search for potential MPAs in patients with persistent Cushing disease.

  5. Case report 457: Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) presenting as lesion in the sacrum

    Energy Technology Data Exchange (ETDEWEB)

    Unni, K K

    1988-03-01

    A 19-year-old women presented with a lytic lesion in the sacrum, associated with pain. Sinus histiocytosis (Rosai-Dorfman disease) was not diagnosed correctly until a biopsy specimen of an enlarged cervical lymph node showed the changes typical of sinus histiocytosis with massive lymphadenopathy. The disease was persistent in the patient and eventually involved the sternum. The patient improved with steroid therapy. The clinical, radiological and pathological aspects of this entity were discussed. It was stressed that radiologists, orthopedic surgeons and pathologists must be aware that sinus histiocytosis with massive lymphadenopathy may manifest initially as a bone 'tumor'.

  6. Recurrent Iliofemoral Venous Thrombosis in the Setting of May-Thurner Syndrome as the Presenting Symptom of Behcet's Disease.

    Science.gov (United States)

    Lakha, Sameer; Png, Chien Yi Maximilian; Chun, Kevin; Ting, Windsor

    2018-02-23

    Vascular manifestations including pulmonary artery aneurysms and venous thrombosis are seen in up to 14% of patients with Behcet's disease. We report a patient who had recurrent deep vein thrombosis (DVT) as the presenting symptom of Behcet's Disease. A 19-year-old male who presented with acute iliofemoral DVT, confirmed by intravascular ultrasound (IVUS) and venogram. May-Thurner syndrome was also observed. Repeated catheter-based pharmacomechanical thrombolysis, thrombectomy, and subsequent iliac vein stenting were performed. The patient was then discharged on rivaroxaban and aspirin. Five months later, the patient experienced left calf pain. In the interim, he had been diagnosed with Behcet's disease by a rheumatologist who was consulted due to oral ulcers and skin lesions and accordingly started on prednisone, colchicine, and azathioprine. At this time, IVUS and venogram revealed thrombotic occlusion of the previously placed stent. Tissue plasminogen activator was infused into the stent, and pharmacomechanical thrombectomy restored flow through the left iliac veins. Follow-up laboratory workup revealed that subtherapeutic azathioprine dosing, and after appropriate adjustment, the patient has been asymptomatic for 12 months. Acute refractory DVT is a possible presenting symptom of Behcet's disease, which may be complicated by May-Thurner syndrome. Such patients should receive therapeutic immunosuppression in addition to anticoagulation. Copyright © 2018 Elsevier Inc. All rights reserved.

  7. Addison's Disease and Possible Cannabis Withdrawal Syndrome Presenting as an Eating Disorder in a Thirty-Year-Old Female.

    Science.gov (United States)

    Lazare, Kimberly

    2017-01-01

    A 30-year-old female with a history of anxiety, cannabis use, and Avoidant/Restrictive Food Intake Disorder presented for residential treatment of a Cannabis Use Disorder. Upon arrival, she had not eaten for two days and was found to be hypotensive with electrolyte disturbances. She was admitted to a nearby hospital, where the Internist diagnosed her with Addison's disease. She was treated with corticosteroid therapy, with rapid normalization of her electrolytes, eating, and anxiety. This is the first published case of undiagnosed Addison's disease presenting as an eating disorder, with cannabis use likely contributing to symptoms. This case elucidates the importance of ruling out other biologic and psychologic causes of clinical presentations before an eating disorder diagnosis can be made.

  8. 'Cardiogenic vertigo'--true vertigo as the presenting manifestation of primary cardiac disease.

    Science.gov (United States)

    Newman-Toker, David E; Camargo, Carlos A

    2006-03-01

    A 90-year-old woman presented to a hospital emergency department with a brief loss of consciousness that was heralded by spinning vertigo lasting approximately 2 min. She had a long history of intermittent brief episodes of rotatory vertigo, presyncope, and non-vertiginous dizziness, occurring either with or without loss of consciousness. Although initially attributed to symptomatic carotid artery stenosis, these episodes persisted, despite surgical restoration of carotid artery blood flow 1 year after her first syncope. Her medical history was otherwise notable for hypertension, mild depression and a gradual decline in gait and balance function attributed to left hip arthritis and older age. Bedside history and examination, non-contrast head CT scan, electrocardiogram, transthoracic echocardiogram, and bedside cardiac telemetry. Sick sinus syndrome or severe reflex bradycardia with asystole causing recurrent, episodic vertigo, presyncope, non-vertiginous dizziness and syncope (Stokes-Adams attacks). Placement of a temporary pacing wire, followed by surgical implantation of a single-chamber ventricular (VVI) pacemaker.

  9. Clonal heterogeneity and chromosomal instability at disease presentation in high hyperdiploid acute lymphoblastic leukemia.

    Science.gov (United States)

    Talamo, Anna; Chalandon, Yves; Marazzi, Alfio; Jotterand, Martine

    2010-12-01

    Although aneuploidy has many possible causes, it often results from underlying chromosomal instability (CIN) leading to an unstable karyotype with cell-to-cell variation and multiple subclones. To test for the presence of CIN in high hyperdiploid acute lymphoblastic leukemia (HeH ALL) at diagnosis, we investigated 20 patients (10 HeH ALL and 10 non-HeH ALL), using automated four-color interphase fluorescence in situ hybridization (I-FISH) with centromeric probes for chromosomes 4, 6, 10, and 17. In HeH ALL, the proportion of abnormal cells ranged from 36.3% to 92.4%, and a variety of aneuploid populations were identified. Compared with conventional cytogenetics, I-FISH revealed numerous additional clones, some of them very small. To investigate the nature and origin of this clonal heterogeneity, we determined average numerical CIN values for all four chromosomes together and for each chromosome and patient group. The CIN values in HeH ALL were relatively high (range, 22.2-44.7%), compared with those in non-HeH ALL (3.2-6.4%), thus accounting for the presence of numerical CIN in HeH ALL at diagnosis. We conclude that numerical CIN may be at the origin of the high level of clonal heterogeneity revealed by I-FISH in HeH ALL at presentation, which would corroborate the potential role of CIN in tumor pathogenesis. Copyright © 2010 Elsevier Inc. All rights reserved.

  10. [The novel approaches to the rehabilitation of the patients presenting with gastroesophageal reflux disease and co-morbid pathology].

    Science.gov (United States)

    Komleva, N E; Marjanovsky, A A; Danilov, A N; Agasarov, L G

    This paper was designed to discuss the problems of co-morbidity and approaches to the rehabilitation of the patients presenting with gastroesophageal reflux disease and a concomitant pathology and to analyze the issues concerning the possible vertebro-visceral correlations inherent in the diseases of the internal organs. To evaluate the vertebro-neurological status of the thoracic segment of the vertebral column in the patients suffering from gastroesophageal reflux disease and to further improve the methods for their treatment taking into consideration the concomitant pathology, if any. A total of 290 patients at the age varying from 25 to 60 (mean 44,3±11,3) years with the non-erosive form of gastroesophageal reflux disease were examined in the phase of its exacerbation. They included 132 (45.5%) men and 158 (54.5%) women. The duration of the disease averaged 13.1±3.3 years and that of the exacerbation period 1.2±0.5 months. All the patients underwent the vertebro-neurological examination. The visual analog scale was used to obtain the subjective characteristics of the pain syndrome associated with thoracalgia The quality of life of the patients was estimated based on the Medical Outcomes Study Short Form-36 (scores of MOS SF-36). To evaluate the effectiveness of the proposed approach to the treatment of the gastroesophageal reflux disease, the 260 participants of the study were randomly allocated to two groups, the main and control ones. The latter group was comprised of 130 patients given the standard treatment including the use of histamine H2-receptor antagonists, proton pump inhibitors, stimulators of the motility of the gastrointestinal tract, alginates, and other drugs, as indicated. The former group consisted of the remaining 130 patients undergoing the standard course of pharmacopuncture to correct the functional disorders in the thoracic segment of the vertebral column. The medications of choice for the purpose were the anti-homotoxic agents, such as

  11. Habitat choice of multiple pollinators in almond trees and its potential effect on pollen movement and productivity: A theoretical approach using the Shigesada-Kawasaki-Teramoto model.

    Science.gov (United States)

    Yong, Kamuela E; Li, Yi; Hendrix, Stephen D

    2012-07-21

    California's almond industry, valued at $2.3 billion per year, depends on the pollinator services of honey bees, although pollination by other insects, mainly solitary wild bees, is being investigated as an alternative because of recent declines in the number of honey bee colonies. Our objective is to model the movements of honey bees and determine the conditions under which they will forage in less favorable areas of a tree and its surroundings when other pollinators are present. We hypothesize that foraging in less favorable areas leads to increased movement between trees and increased cross pollination between varieties which is required for successful nut production. We use the Shigesada-Kawasaki-Teramoto model (1979) which describes the density of two species in a two-dimensional environment of variable favorableness with respect to intrinsic diffusions and intra and interspecific interactions of species. The model is applied to almond pollination by honey bees and other pollinators with environmental favorableness based on the distribution of flowers in trees. Using the spectral-Galerkin method in a rectangular domain, we numerically approximated the two-dimensional nonlinear parabolic partial differential system arising in the model. When cross-diffusion or interspecific effects of other pollinators was high, honey bees foraged in less favorable areas of the tree. In the model, high cross-diffusion also resulted in increased activity in honey bees which manifested itself in the field in terms of accelerations, decelerations, and changes in direction, indicating rapid redistribution of densities to an equilibrium state. Empirical analysis of the number of honey bees and other visitors in 2-min intervals to almond trees shows a negative relationship, indicating cross-diffusion effects in nature with the potential to increase movement to a different tree with a more favorable environment, potentially increasing nut production. Copyright © 2012 Elsevier Ltd

  12. Cushing's disease due to mixed pituitary adenoma-gangliocytoma of the posterior pituitary gland presenting with Aspergillus sp. sinus infection.

    Science.gov (United States)

    Bridenstine, Mark; Kerr, Janice M; Lillehei, Kevin O; Kleinschmidt-DeMasters, Bette K

    2013-01-01

    Gangliocytic lesions of the pituitary gland producing Cushing's disease are extremely rare entities that may exist with or without a pituitary adenoma. The latter have been designated mixed pituitary adenoma-gangliocytomas, the majority of which produce growth hormone, not adrenocorticotropin (ACTH), and are localized to the anterior gland. We now report an immunocompetent woman with hypercortisolism who presented with an intranasal aspergilloma eroding the bony sellar floor. The fungal ball was contiguous with, and extended into, a large neurohypophyseal-centered mass. Transsphenoidal resection revealed a gangliocytic lesion of the posterior gland with small clusters of intimately admixed ACTH-immunoreactive adenoma cells as the cause of her Cushing's disease. Rare transitional sizes and shapes of cells coupled with immunohistochemical findings supported interpretation as advanced neuronal metaplasia within an ACTH adenoma. This mixed ACTH adenoma-gangliocytoma is the first example to present clinically with an opportunistic infection.

  13. Addison's Disease and Possible Cannabis Withdrawal Syndrome Presenting as an Eating Disorder in a Thirty-Year-Old Female

    OpenAIRE

    Lazare, Kimberly

    2017-01-01

    A 30-year-old female with a history of anxiety, cannabis use, and Avoidant/Restrictive Food Intake Disorder presented for residential treatment of a Cannabis Use Disorder. Upon arrival, she had not eaten for two days and was found to be hypotensive with electrolyte disturbances. She was admitted to a nearby hospital, where the Internist diagnosed her with Addison’s disease. She was treated with corticosteroid therapy, with rapid normalization of her electrolytes, eating, and anxiety. This is ...

  14. Effects of rhythmic stimulus presentation on oscillatory brain activity: the physiology of cueing in Parkinson’s disease

    OpenAIRE

    te Woerd, Erik S.; Oostenveld, Robert; Bloem, Bastiaan R.; de Lange, Floris P.; Praamstra, Peter

    2015-01-01

    The basal ganglia play an important role in beat perception and patients with Parkinson's disease (PD) are impaired in perception of beat-based rhythms. Rhythmic cues are nonetheless beneficial in gait rehabilitation, raising the question how rhythm improves movement in PD. We addressed this question with magnetoencephalography recordings during a choice response task with rhythmic and non-rhythmic modes of stimulus presentation. Analyses focused on (i) entrainment of slow oscillations, (ii) ...

  15. Primary angiitis of the central nervous system presenting with subacute and fatal course of disease: a case report

    Directory of Open Access Journals (Sweden)

    Börnke Christian

    2005-09-01

    Full Text Available Abstract Background Primary angiitis of the central nervous system is an idiopathic disorder characterized by vasculitis within the dural confines. The clinical presentation shows a wide variation and the course and the duration of disease are heterogeneous. This rare but treatable disease provides a diagnostic challenge owing to the lack of pathognomonic tests and the necessity of a histological confirmation. Case presentation A 28-year-old patient presenting with headache and fluctuating signs of encephalopathy was treated on the assumption of viral meningoencephalitis. The course of the disease led to his death 10 days after hospital admission. Postmortem examination revealed primary angiitis of the central nervous system. Conclusion Primary angiitis of the central nervous system should always be taken into consideration when suspected infectious inflammation of the central nervous system does not respond to treatment adequately. In order to confirm the diagnosis with the consequence of a modified therapy angiography and combined leptomeningeal and brain biopsy should be considered immediately.

  16. Impact of Helminth Infection on the Clinical and Microbiological Presentation of Chagas Diseases in Chronically Infected Patients.

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    Fernando Salvador

    2016-04-01

    Full Text Available Helminth infections are highly prevalent in tropical and subtropical countries, coexisting in Chagas disease endemic areas. Helminth infections in humans may modulate the host immune system, changing the Th1/Th2 polarization. This immunological disturbance could modify the immune response to other infections. The aim of this study is to evaluate the relationship between clinical, microbiological and epidemiological characteristics of Chagas disease patients, with the presence of helminth infection.A prospective observational study was conducted at Vall d'Hebron University Hospital (Barcelona, Spain. Inclusion criteria were: age over 18 years, diagnosis of Chagas disease, and not having received specific treatment for Chagas disease previously to the inclusion. The study protocol included Chagas disease assessment (cardiac and digestive evaluation, detection of T. cruzi DNA measured by PCR in peripheral blood, and helminth infection diagnosis (detection of IgG anti-Strongyloides stercoralis by ELISA, microscopic examination of stool samples from three different days, and specific faecal culture for S. stercoralis larvae.Overall, 65 patients were included, median age was 38 years, 75.4% were women and most of them came from Bolivia. Cardiac and digestive involvement was present in 18.5% and 27.7% of patients respectively. T. cruzi PCR was positive in 28 (43.1% patients. Helminth infection was diagnosed in 12 (18.5% patients. No differences were observed in clinical and epidemiological characteristics between patients with and without helminth infection. Nevertheless, the proportion of patients with positive T. cruzi PCR was higher among patients with helminth infection compared with patients without helminth infection (75% vs 35.8%, p = 0.021.We observed a high prevalence of S. stercoralis infection among chronic Chagas disease patients attended in our tropical medicine unit. Strongyloidiasis was associated with significantly higher proportion of

  17. Genetically influenced resistance to stress and disease in salmonids in relation to present-day breeding practice - a short review

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    Jan Mendel

    2018-01-01

    Full Text Available While intensive fish production has many advantages, it also has a number of drawbacks as regards disease and stress. To date, there has been no conclusive review of disease resistance at Czech fish farms. The aim of the study was to describe briefly the existing salmonid breeding practice in the Czech Republic and to point out the trends and new possibilities gaining ground around Europe. However, the present situation in the Czech stocks is not rare at all and therefore it is used here as a model example representing numerous breeding practices in Europe. Stress and disease resistance in fish is polygenic and quantitative, making selection for such traits difficult. In recent years, however, fish breeding methods have developed rapidly, with the use of genetic analysis tools, for example, now allowing much greater selection accuracy. Gradual progress in understanding the importance of individual genetic markers offers many new options that can be utilised in breeding practice. New selection methods, such as quantitative trait loci (QTLs and genomic selection, are increasingly employed in European aquaculture. Next generation sequencing techniques now help in the finding of new and promising QTLs that can be used in assisted selection. This review maps the current progress in improving salmonid resistance to stress and disease in aquaculture and at the same time provides the breeders with a short overview of the latest tools of genetically controlled breeding and of the newest products available at the European market.

  18. Palaeopathology and its relevance to understanding health and disease today: the impact of the environment on health, past and present

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    Roberts Charlotte Ann

    2016-03-01

    Full Text Available This paper considers the discipline of palaeopathology, how it has developed, how it is studied, and what limitations present challenges to analysis. The study of disease has a long history and has probably most rapidly developed over the last 40-50 years with the development of methods, and particularly ancient pathogen DNA analysis. While emphasizing that palaeopathology has close synergies to evolutionary medicine, it focuses then on three ‘case studies’ that illustrate the close interaction people have had with their environments and how that has impacted their health. Upper and lower respiratory tract disease has affected sinuses and ribs, particularly in urban contexts, and tuberculosis in particular has been an ever present disease throughout thousands of years of our existence. Ancient DNA methods are now allowing us to explore how strains of the bacteria causing TB have changed through time. Vitamin D deficiency and ‘phossy jaw’ are also described, both potentially related to polluted environments, and possibly to working conditions in the industrial period. Access to UV light is emphasized as a preventative factor for rickets and where a person lives is important (latitude. The painful stigmatizing ‘phossy jaw’ appears to be a condition related to the match making industries. Finally, thoughts for the future are outlined, and two key concerns: a close consideration of ethical issues and human remains, especially with destructive analyses, and thinking more about how palaeopathological research can impact people beyond academia.

  19. 'Disease, disaster and despair'? The presentation of health in low- and middle-income countries on Australian television.

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    Michelle Imison

    2010-11-01

    Full Text Available In high-income nations mainstream television news remains an important source of information about both general health issues and low- and middle-income countries (LMICs. However, research on news coverage of health in LMICs is scarce.The present paper examines the general features of Australian television coverage of LMIC health issues, testing the hypotheses that this coverage conforms to the general patterns of foreign news reporting in high-income countries and, in particular, that LMIC health coverage will largely reflect Australian interests. We analysed relevant items from May 2005 - December 2009 from the largest health-related television dataset of its kind, classifying each story on the basis of the region(s it covered, principal content relating to health in LMICs and the presence of an Australian reference point. LMICs that are culturally proximate and politically significant to Australia had higher levels of reportage than more distant and unengaged nations. Items concerning communicable diseases, injury and aspects of child health generally consonant with 'disease, disaster and despair' news frames predominated, with relatively little emphasis given to chronic diseases which are increasingly prevalent in many LMICs. Forty-two percent of LMIC stories had explicit Australian content, such as imported medical expertise or health risk to Australians in LMICs.Media consumers' perceptions of disease burdens in LMICs and of these nations' capacity to identify and manage their own health priorities may be distorted by the major news emphasis on exotic disease, disaster and despair stories. Such perceptions may inhibit the development of appropriate policy emphases in high-income countries. In this context, non-government organisations concerned with international development may find it more difficult to strike a balance between crises and enduring issues in their health programming and fundraising efforts.

  20. Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene

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    Teva Brender

    2015-01-01

    Full Text Available Pelizaeus-Merzbacher disease (PMD is neurodegenerative leukodystrophy caused by dysfunction of the proteolipid protein 1 (PLP1 gene on Xq22, which codes for an essential myelin protein. As an X-linked condition, PMD primarily affects males; however there have been a small number of affected females reported in the medical literature with a variety of different mutations in this gene. No affected females to date have a deletion like our patient. In addition to this, our patient has skewed X chromosome inactivation which adds to her presentation as her unaffected mother also carries the mutation.