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Sample records for resembling hypereosinophilic syndrome

  1. Hypereosinophilic syndromes

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    Giuseppe Civardi

    2013-04-01

    Full Text Available Background: The last few years have seen a complete change in the etiopathogenetic features, classification and therapeutic approach of the hypereosinophilic syndrome (HES, a multiorgan targeted blood disease. The discovery of a genetic mutation and the occurrence of a new fusion gene, named FIP1L1-PDGFRA (FIP gene, in some patients allowed the identification of a new myeloproliferative disorder, M-HES: thereafter, the pivotal therapeutic role of the tyrosine kinase inhibitors, particularly, imatinib mesylate, was clearly detected. In the same period a new pathogenetic mechanism has been detected: some authors described the presence of a CD3-CD4 +Tcell clone correlating with the overproduction of IL5, a potent eosinophilic cell line stimulating cytokine. As a consequence an international consensus committee proposed a new classification for these syndromes, in accordance with these new pathogenetic features. The disease is characterized by an extensive tissue and organ damage due to an eosinophilic cell infiltration and leading to the release of toxic cytokines and subsequent organ dysfunction. The heart, lungs, gastrointestinal apparatus, skin and central nervous system are affected. Moreover the released cytokines can induce a thrombophilic status and thromboembolic events can occur throughout the body. Aim of the study: We describe the diagnostic procedures that are necessary in order to obtain a correct diagnosis and classification of the disease and to evaluate the presence of an organ and tissue damage. In particular, bone marrow biopsy and cytogenetic examination of blood and marrow are necessary for detecting M-HES cases that are positive for the FIP gene. In these patients, imatinib mesylate has a leading role for obtaining complete remission of the disease in a high percentage of cases. We also examine the therapeutic options for the other forms of the disease: prednisone, interferon, hydroxiurea are effective therapeutic tools in

  2. Current differential diagnosis of hypereosinophilic syndrome

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    Dinić-Uzurov Vera

    2007-01-01

    Full Text Available Introduction. Hypereosinophilic syndrome (HES is a group of idiopathic disorders associated with single or multiple organ system dysfunction. HES must be distinguished from reactive eosinophilia in parasitic infections, allergic diseases, and especially from hematological diseases of clonal origin. Reactive eosinophilia due to infectious and parasitic diseases. Tissue helminth infections, especially toxocariasis, cause severe and long-standing hypereosinophilia. Despite specific therapy, eosinophilia may persist for over a year after diagnosis, and decreases slowly. Other helminth infections, such as trichinellosis, strongyloidosis, and rarely taeniasis and cysticercosis may also be diagnosed in patients with eosinophilia. Hematologic and other neoplastic diseases. Numerous neoplastic diseases, like Hodgkin's and other malignant lymphomas, myeloproliferative diseases, systemic mastocytosis etc., may be associated with marked eosinophilia. We had two patients with clinical and histological features resembling chronic eosinophilic leukemia, and many others with T-cell lymphoma, planocellular or adenocarcinoma etc. where eosinophilia persisted. Drug-induced eosinophilia. Drugs associated with eosinophilia include penicillins, tetracyclines, especially minocycline, clarithromycin, tetrazepam, mefloquine, and many others. Toxins associated with L-tryptophan cause eosinophilia-myalgia syndrome and toxic oil syndrome, also belonging in this group. Treatment includes drug discontinuation and administration of corticosteroids. Hypereosinophilia with organ dysfunction. Many severe diseases, such as sarcoidosis, Churg-Strauss syndrome, pemphigus vulgaris, eosinophilic gastrointestinal diseases, inflammatory bowel disease and many others are associated with hypereosinophilia and target organ damage, e.g. involvement of the heart, lungs, skin, or nervous tissue. Conclusion. Eosinophilia can be classified as either familial or acquired. Hypereosinophilic

  3. [The Hypereosinophilic Syndromes in Childhood].

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    Leu, T; Simon, H-U; Hebestreit, H; Kunzmann, S

    2015-11-01

    The hypereosinophilic syndromes are rare disorders in childhood and require extensive differential diagnostic considerations. In the last years the earlier "idiopathic HES" called syndromes could be differentiated into molecular biologically, immunophenotypically and clinically more characterized heterogeneous diseases with high therapeutic and prognostic relevance. Nowadays the term HES summarizes diseases, which go hand in hand with a local or systemic hypereosinophilia (HE) connected with an organ damage. Depending on the cause of the HE one differentiates primary/neoplastic HES (HESN) from secondary/reactive HES (HESR). The latter develops reactively in connection with allergies, parasitosis, medications, neoplasia or a clonal increase of T-lymphocytes among others. With HESN the HE results from a clonal increase of eosinophilic granulocytes. While for some subgroups of the HESN (among others FIP1L1-PDGFRA fusion gene) the administration of a tyrosine kinase inhibitor is a new and effective therapy option, glucocorticoids still represent the medication of first choice for many not PDGFRA associated variants. Different immunomodulatory drugs or cytostatic agents are necessary to allow dose reduction of glucocorticoids. The promising therapy with anti-IL-5 antibodies is still not approved in infancy, could however become a treatment option in the future. Due to the present lack of knowledge about the HES in infancy the establishment of a register should be aimed for the treatment of HES in infancy.

  4. Hypereosinophilic syndrome and proliferative diseases.

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    Ionescu, Marius A; Wang, Li; Janin, Anne

    2009-01-01

    Therapy principles of the last decade and recent advances in the research of polynuclear eosinophil have led to a new approach in the hypereosinophilic syndrome (HES), with important consequences on the development of new and effective therapies. HES is defined by persistent and marked eosinophilia and eosinophil-related organ damage in the absence of any evident cause of hypereosinophilia. Two variants of HES have been characterized, with different prognosis and possible associations with malignant diseases such as myeloid leukemia or T-cell lymphomas. The lymphocytic variant of HES (L-HES) is characterized by the presence of T cell clones, IL-5 expression and possible progression to T-cell lymphoma. Besides steroid therapy, the anti-IL-5 monoclonal antibody mepolizumab is considered as a target therapy for L-HES. The myeloproliferative variant of HES (M-HES) is associated with an increased risk of myeloid leukemia and good response to anti-tyrosine-kinase therapy. The imatinib target is a kinase resulting from an 800-kb deletion on chromosome 4. The fusion gene Fip1-like 1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRA) has been validated as a marker of response to anti-tyrosine-kinase therapy. Early identification of HES variants is crucial for the rapid introduction of early and appropriately adjusted therapy.

  5. Refining the definition of hypereosinophilic syndrome

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    Simon, Hans-Uwe; Rothenberg, Marc E.; Bochner, Bruce S.; Weller, Peter Fahey; Wardlaw, Andrew J.; Wechsler, Michael E.; Rosenwasser, Lanny J.; Roufosse, Florence; Gleich, Gerald J.; Klion, Amy D.

    2010-01-01

    Because of advances in our understanding of the hypereosinophilic syndrome (HES) and the availability of novel therapeutic agents, the original criteria defining these disorders are becoming increasingly problematic. Here, we discuss shortcomings with the current definition of HES and recent developments in the classification of these disorders. Despite significant progress in our understanding of the pathogenesis of some forms of HES, the current state of knowledge is still insufficient to f...

  6. Refining the definition of hypereosinophilic syndrome

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    Simon, Hans-Uwe; Rothenberg, Marc E.; Bochner, Bruce S.; Weller, Peter F.; Wardlaw, Andrew J.; Wechsler, Michael E.; Rosenwasser, Lanny J.; Roufosse, Florence; Gleich, Gerald J.; Klion, Amy D.

    2012-01-01

    Because of advances in our understanding of the hypereosinophilic syndrome (HES) and the availability of novel therapeutic agents, the original criteria defining these disorders are becoming increasingly problematic. Here, we discuss shortcomings with the current definition of HES and recent developments in the classification of these disorders. Despite significant progress in our understanding of the pathogenesis of some forms of HES, the current state of knowledge is still insufficient to formulate a new comprehensive etiologic definition of HESs. Nevertheless, we suggest a new working definition that overcomes some of the most obvious limitations with the original definition. PMID:20639008

  7. Hypereosinophilic syndrome with hepatic involvement in a young child

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    Jung, Mi Ran; Goo, Hyun Woo; Hong, Seong Sook; Yoon, Chong Hyun [Ulsan University College of Medicine, Seoul (Korea, Republic of)

    2003-09-01

    Hypereosinophilic syndrome, whose etiology in unknown, involves the infiltration of various organs by a large number of eosinophils. The sites of involvement are the heart, skin, lung, liver, nervous system, and gastrointestinal tract. The disorder occurs mostly in middle-aged men and is characterized by striking peripheral eosinophilia. There have been few reports of hypereosinophilic syndrome in patients younger than 15 years and the disease also shows a predilection for males. We report a case of hypereosinophilic syndrome with hepatic involvement in a 17-month-old girl, and correlate the imaging features with the pathologic findings.

  8. Peripheral neuropathy in hypereosinophilic syndrome with vasculitis

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    Osvaldo Nascimento

    1991-12-01

    Full Text Available A 53-year-old woman with non-productive cough of unexplained aetiology for two years, developed a sub-acute symmetrical polyneuropathy involving all four limbs, accompanied by fever, cutaneous rash and myalgia in lower limbs. Laboratory studies revealed a leukocytosis with 70% eosinophils and excluded any cause for the hypereosinophilia. An echocardiogram showed increase in thickness of the atrial septum. Motor and sensory conduction velocity were reduced in ulnar and median nerve, and unrecordable in peroneal and tibial nerves. A sural nerve biopsy showed an axonal degeneration involving myelinated and unmyelinated fibers as well as a vasculitis with fibrinoid necrosis and perivascular infiltration of eosinophils. There was considerable clinical and laboratorial improvement with the use of steroids. The differential diagnosis between idiopathic hypereosinophilic syndrome and other disorders known to course with vasculitis and hypereosinophilia is discussed.

  9. Portal, Splenic and Mesenteric Thrombosis in Hypereosinophilic Syndrome: A Case Report

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    Hwang, Su Yeon; Jang, Kyung Mi; Kim, Min Jeong; Lee, Kwan Seop; Koh, Sung Hye; Jeon, Eui Yong; Lee, Hyun; Choi, Ju Hyun; Yie, Mi Yeon [Hallym University, Chuncheon (Korea, Republic of)

    2009-07-15

    Idiopathic hypereosinophilic syndrome is a spectrum of diseases characterized by prominent peripheral eosinophilic leukocytosis without an identifiable cause. Several reports have described hepatic involvement as depicted on sonography and CT imaging in patients with hypereosinophilic syndrome. However, thrombosis of the portal, splenic and mesenteric veins in hypereosinophilic syndrome has been rarely reported. We present here a case of portal, splenic and mesenteric thrombosis in a 33-year-old man with hypereosinophilic syndrome.

  10. Wells Syndrome with Multiorgan Involvement Mimicking Hypereosinophilic Syndrome.

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    Carlesimo, M; Fidanza, L; Mari, E; Feliziani, G; Narcisi, A; De Marco, G; Bartolazzi, A; Camplone, G

    2009-09-12

    Eosinophil-associated diseases represent a spectrum of heterogeneous disorders, where blood and cutaneous eosinophilia is the most important feature and eosinophils are the principal cause of cutaneous lesions. These diseases show some similarities in the clinical features but also many distinctive characteristics [Saurat et al., Dermatologia e malattie sessualmente trasmesse, Milano, Masson, 2000]. Wells syndrome is one of these disorders and is an uncommon recurrent inflammatory dermatosis, rarely associated to signs and symptoms of multiple organ involvement [Arch Dermatol 2006;142:1157-1161]. Hypereosinophilic syndrome, in contrast, constitutes a group of idiopathic disorders characterized by blood eosinophilia for at least 6 months, associated with single or multiple organ system dysfunction [Arch Dermatol 2006;142:1157-1161]. Clinically atypical Wells syndrome with multiorgan involvement is reported here. A correct diagnosis is difficult in this case, but clinical and histopathological features are compatible with this diagnosis. The reported condition likely represents a borderline hypereosinophilic disease, in which clinical features of both hypereosinophilic syndrome and Wells syndrome are present.

  11. MRI findings of muscle involvement in idiopathic hypereosinophilic syndrome

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    Hundt, W.; Staebler, A.; Reiser, M. [Department of Diagnostic Radiology, Klinikum Grosshadern, Muenchen (Germany)

    1999-04-01

    A 40-year-old white man presented with fever, muscle pain, skin nodules and persistent hypereosinophilia over a period of 1 year. In addition, he had ventricular arrhythmias with episodes of tachycardia. Besides a lack of response to antiparasitic therapy, laboratory and pathological data excluded the diagnosis of trichinosis or any other parasitic infection. The patient`s course of the disease over the previous 1{sup 1}/{sub 2} years was compatible with hypereosinophilic syndrome. In a muscle biopsy several eosinophilic perivascular and leucocytic intravascular infiltrates were found, indicative of muscle involvement by the disease. This is a report on the MRI findings of muscle involvement in idiopathic hypereosinophilic syndrome. (orig.) With 3 figs., 25 refs.

  12. Eosinophilic Pleural Effusion: A Rare Manifestation of Hypereosinophilic Syndrome

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    Ndubuisi C. Okafor

    2009-01-01

    Full Text Available Several causes of eosinophilic pleural effusions have been described with malignancy being the commonest cause. Hypereosinophilic syndrome (HES is a rare disease and very few cases have been reported of HES presenting as eosinophilic pleural effusion (EPE. We report a case of a 26-year-old male who presented with shortness of breath. He had bilateral pleural effusions, generalized lymphadenopathy, splenomegaly, and leukocytosis with marked peripheral blood eosinophilia. The pleural fluid was exudative, with 25%–30% eosinophilis, and absence of neoplastic cells. Hypereosinophilic syndrome was diagnosed after other causes of eosinophilia were excluded. He continued to be dyspneic with persistent accumulation of eosinophilic pleural fluid, even after his peripheral eosinophil count had normalized in response to treatment. This patient represents a very unusual presentation of HES with dyspnea and pleural effusions and demonstrates that treatment based on response of peripheral eosinophil counts, as is currently recommended, may not always be clinically adequate.

  13. Idiopathic hypereosinophilic syndrome associated with rheumatoid arthritis A case report

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    P. Quattrocchi

    2011-09-01

    Full Text Available The idiopathic hypereosinophilic sindrome (HES is a disease characterized by persistent blood eosinophilia (> 1500 eosinophils/mm3 > 6 months-in absence of other ethiologies for eosinophilia (parasitic, allergic, immunological or malignant diseases-associated with multiple organ involvement (heart, lung, central nervous system, skin, bone marrow, gastrointestinal tract. Reports on rheumatologic manifestations in patients with HES are very rare. In the case we report a typical rheumatoid arthritis developed in a 58-year-old woman with HES treated with glucocorticoids. Because of the marked glucocorticoids side effects shown by the patient(cushingoid habitus, hyperglycemia, we stopped this treatment and replaced it at first by methotrexate and later by cyclosporin, both of them associated with sulfasalazine. These drugs revealed very efficacious both on articular pathology and on the clinical and laboratory manifestations of HES. These data suggest that common pathogenetic mechanisms are likely acting in rheumatoid arthritis and idiopathic hypereosinophilic syndrome.

  14. A Case Report of Eosinophilic Esophagitis Accompanying Hypereosinophilic Syndrome

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    Mahreema Jawairia

    2012-01-01

    Full Text Available Hypereosinophilic syndrome is a blood disorder characterized by the overproduction of eosinophils in the bone marrow with persistent peripheral eosinophilia, associated with organ damage by the release of eosinophilic mediators. Although HES can involve multiple organ systems, GI tract involvement is very rare. Few cases of HES presenting with gastritis or enteritis have been reported worldwide. To date, HES presenting with esophagus involvement has only been reported once. Here, we present a 39-year-old Hispanic female patient with history of HES presenting with complaints of dysphagia and generalized pruritus.

  15. Pulmonary involvement of hypereosinophilic syndrome : high-resolution CT finding in three patients

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    Kang, Eun Young; Lee, Mee Ran; Shim, Jae Jeong [Korea Univ. College of Medicine, Seoul (Korea, Republic of)

    1996-09-01

    Hypereosinophilic syndrome is a rare entity of eosinophilic lung disease characterized by idiopathic prolonged eosinophilia of marked degree and variable organ involvement. Pulmonary involvement of hypereosinophilic syndrome occurs in up to 40% of patients. We report HRCT findings of three patients with pulmonary involvement of hypereosinophilic syndrome diagnosed by clinical manifestation, bronchoalveolar lavage and transbronchial lung biopsy. On HRCT, several small nodules were seen in both lungs, especially in peripheral lung areas of the three patients. One had nodules with ground-glass attenuation halo and also focal areas of ground-glass attenuation in this area.

  16. A Hypereosinophilic Syndrome Associated with HIV Infection

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    1992-01-01

    mucosa of patients with coeliac disease . J Exp Med 1992; 175: 293 29. Enockihara H, Kajitani H, Nagashima S, et al. Interleukin-5 activity in sera...exhibited clinical and histopathologic similarities to the idiopathic hypereominophilic syndrome as well as acute graft -versus -host disease . A serum...MD **** Paul M Benson LTC MC USA * and the Military Medical Consortium for Applied Retroviral Research * Department of Bacterial Diseases Walter Reed

  17. [Hypereosinophilic syndrome as paraneoplastic presentation in an adolescent].

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    Arias-Martínez, Isabel; Venancio-Hernández, Marco

    2013-01-01

    Hypereosinophilic syndrome is characterized by peripheral eosinophilia over 1,500 cell/mm3 and/or tissue eosinophilia, with dysfunction or damage to organ, once other causes were ruled out. This paper presents a case of hypereosinophilic syndrome (HS) which presented as lymphoblastic leukemia in a teenager. This is a 13 year old female, with B cell lymphoblastic leukemia at 9 years old, who received chemotherapy for 2 years achieving remission. One year after remission she presented malar rash, hair loss, arthralgias, conjuntival redness, dyspnea and thoracic oppression. The initial blood count only showed hypereosinophilia, and a bone marrow biopsy did not show blasts and had a negative immunophenotyping. Autoantibodies were negative, except for ANA (1:1,280 in one determination after one negative), complement was normal, lupic band in skin was negative for complement and immunoglobulins; serum IgG 2,195 mg/dL, IgA 231, IgM 327, IgE 109 U/mL; skin testing for aeroallergens and food allergens were negative. Prednisone was started at 1 mg/kg. Abdominal ultrasound only reported biliary sludge flow and hepatosplenomegaly; chest tomography showed centrolobullar interstitial pattern, suggesting eosinophilic pneumonitis. The patient started with a generalized dermatosis, and a biopsy reported leucocytoclastic vasculitis. Six months after the onset of symptomatology there were generalized malaise, uncontrolled fever, gingival haemorrhage, asthenia and adynamia; a blood cell count reported blasts, and bone marrow smear confirmed the diagnosis of cell B lymphoblastic leukemia. The patient deteriorated rapidly showing signs of respiratory difficulty and acute pulmonary edema, therefore chemotherapy was started without response, and finally the patient died. There are several causes of HS, yet one of the least frequent presentations in childhood is the association with neoplasms.

  18. Exacerbation of hypereosinophilic syndrome with pulmonary involvement in two consecutive pregnancies: a case report and review of the literature

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    Itai Ghersin

    2014-08-01

    Full Text Available Hypereosinophilic syndrome represents a heterogeneous group of disorders with the common feature of prolonged eosinophilia of unknown cause and organ system dysfunction including the pulmonary system. Hypereosinophilic syndrome, with and without pulmonary involvement, in association with pregnancy is very rare, and to the best of our knowledge only one case of hypereosinophilic syndrome with pulmonary involvement during pregnancy has been previously reported in the medical literature. We describe a case of a patient with previously symptomatic hypereosinophilic syndrome with pulmonary involvement who experienced exacerbations of her disease during two consecutive pregnancies. To the best of our knowledge this is the first report which demonstrates a worsening effect of pregnancy on both eosinophil count and end organ involvement in a patient with previous diagnosis of hypereosinophilic syndrome. [Int J Res Med Sci 2014; 2(4.000: 1774-1776

  19. [The idiopathic hypereosinophilic syndrome and chronic eosinophilic leukemia].

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    Chrobák, L; Voglová, J

    2005-12-01

    Idiopathic hypereosinophilic syndrome is a heterogenous group of hematological disorders characterized by eosinophilia (> 1.5 x 10(9)/l) persistent for more than 6 months, exclusion of reactive eosinophilia from other causes, such as parasitic infections or allergy, and evidence of end-organ damage. According to World Health Organization the exclusion includes all neoplastic disorders in which eosinophils are part of the neoplastic clone. Excluded should be also T cell population with aberant phenotype and abnormal cytokine production, recently considert also as "lymphocytic" variants of the HES [42]. HES has to be reclassified as chronic eosinophilic leukemia (CEL) when there is evidence for clonality based on the presence of chromosomal abnormalities or inactivation of X-chromosome in female patients. The successful empiric treatment of patients with tyrosine kinase inhibitor imatinib (Glivec) suggested the presence of an imatinib-sensitive tyrosine kinase inhibitor. The identification of a specific intersticial chromosome deletion del(4)(q12;q12) creating the FIP1L1-PDGFRA fusion gene confirmed this hypothesis. Patients carrying this gene should be reclassified as CEL and detection of this gene is a positive predictor for response to imatinib therapy. Effective doses of imatinib are 100 mg/day. The side effects are minimal. The only exception is an acute left ventricular dysfunction which has been reported in three patients within the first week of treatment with imatinib. Imatinib has been successfully used also in some patients with the constitutively activated thyrosine kinase ETV6-PDGFRbeta [1] and in systemic mast cell disease associated with eosinophilia. Other therapeutical options for HES/CEL have been mentioned. The resistence to imatinib and the possibilities how to overcome it are discussed.

  20. A patient with hypereosinophilic syndrome that manifested with acquired hemophilia and elevated IgG4: a case report

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    Nagao Yoshiro

    2012-02-01

    Full Text Available Abstract Introduction Hypereosinophilic syndrome is defined as a prolonged state (more than six months of eosinophilia (greater than 1500 cells/μL, without an apparent etiology and with end-organ damage. Hypereosinophilic syndrome can cause coagulation abnormalities. Among hypereosinophilic syndrome types, the lymphocytic variant (lymphocytic hypereosinophilic syndrome is derived from a monoclonal proliferation of T lymphocytes. Here, we describe the case of a patient with lymphocytic hypereosinophilic syndrome who presented with a coagulation abnormality. To the best of our knowledge, this is the first such report including a detailed clinical picture and temporal cytokine profile. Case presentation A 77-year-old Japanese man presented to our facility with massive hematuria and hypereosinophilia (greater than 2600 cells/μl. His eosinophilia first appeared five years earlier when he developed femoral artery occlusion. He manifested with multiple hematomas and prolonged activated partial thromboplastin time. His IgG4 level was remarkably elevated (greater than 2000 mg/dL. Polymerase chain reaction tests of peripheral blood and bone marrow identified lymphocytic hypereosinophilic syndrome. His prolonged activated partial thromboplastin time was found to be due to acquired hemophilia. Glucocorticoids suppressed both the hypereosinophilia and coagulation abnormality. However, tapering of glucocorticoids led to a relapse of the coagulation abnormality alone, without eosinophilia. Tumor necrosis factor α, interleukin-5, and/or eotaxin-3 may have caused the hypereosinophilia, and interleukin-10 was correlated with the coagulation abnormality. Conclusions To the best of our knowledge, this is the first case in which lymphocytic hypereosinophilic syndrome and IgG4-related disease have overlapped. In addition, our patient is only the second case of hypereosinophilic disease that manifested with acquired hemophilia. Our patient relapsed with the

  1. Management of F/P+/- hypereosinophilic syndromes: case report and treatment review.

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    Kalra, Ankur; Palaniswamy, Chandrasekar; Kalra, Ankit; Wig, Naveet; Sood, Rita

    2012-09-01

    Eosinophilia in clinical practice can occur due to various pathologic processes. Causes of eosinophilia include idiopathic eosinophilia, reactive eosinophilia, idiopathic hypereosinophilic syndrome (HES), chronic eosinophilic leukemia, and other hematopoietic neoplasms (myeloid, lymphatic, or mast cell). We present a case of a 22-year-old man with HES with remarkable clinical manifestations and treatment challenges.

  2. Renal thrombotic microangiopathy and FIP1L1/PDGFRα-associated myeloproliferative variant of hypereosinophilic syndrome.

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    Langlois, Anne Lyse; Shehwaro, Nathalie; Rondet, Claire; Benbrik, Youssef; Maloum, Karim; Gueutin, Victor; Rouvier, Philippe; Izzedine, Hassane

    2013-08-01

    We report a case of renal thrombotic microangiopathy (TMA) in a myeloproliferative variant of hypereosinophilic syndrome (HES) in a 24-year-old man which resolved with imatinib therapy. This is one of a few cases in the literature to date describing TMA in HES, suggesting that the pathogenesis of thrombosis is at least in part related to damage from activated eosinophils.

  3. Idiopathic hypereosinophilic syndrome involving the liver: CT features vs. peripheral eosinophilia

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    Kim, Kyung Sook; Lee, Moon Gyu; Won, Young Chul; Lee, Eun Hye; Noh, Han Na; Ha, Hyun Kwon; Kim, Pyo Nyun; Auh, Yong Ho [Ulsan Univ. College of Medicine, Seoul (Korea, Republic of)

    1997-10-01

    To correlate CT features with peripheral eosinophilia in patients with idiopathic hypereosinophilic syndrome involving the liver. During the last three years, features of liver involvement in nine of 20 patients with idiopathic hypereosinophilic syndrome were evaluated on CT. The shape and distribution of intrahepatic low densities and the presence of hepatomegaly and/or splenomegaly were reviewed on CT, and the percentage of eosinophils in peripheral blood was also determined. In seven cases, interval change in hepatic lesion and the percentage of eosinophils were reviewed on follow-up examination. On initial CT, varying low-density patterns were seen in the liver in all cases; hepatomegaly was seen in four cases, and hepatosplenomegaly in two. The percentage of eosinophils was 89% in a case with diffuse patch low densities in the liver, 65-85% in three cases with numerous nodular low density lesions, 12-29% in four cases with multiple (below ten) nodular or small geographic hypodense lesions, and 24% in a case with a single nodular hypodense lesion. On follow-up CT, seven patients showed a decrease in the percentage of eosinophils, and in six, improved intrahepatic low densities were seen. On CT, intrahepatic low densities were seen in patients with idiopathic hypereosinophilic syndrome, and these were distributed more extensively when peripheral eosinophilia was more severe. With improvement in peripheral eosinophilia, the low densities also improved.

  4. Hypereosinophilic syndrome as a cause of fatal thrombosis: two case reports with histological study.

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    Fujita, Kumi; Ishimaru, Hiroyasu; Hatta, Kazuhiro; Kobashi, Yoichiro

    2015-08-01

    Herein we present two cases of hypereosinophilic syndrome with a unique clinical presentation. One patient showed severe systemic thrombosis with splenic rupture and the other patient showed finger gangrene with various systemic symptoms. Both patients were examined histologically, and several characteristics were noted. First, fresh or organized thrombosis with marked eosinophilic infiltration was observed in the cavity and walls of the thrombosed vessels. Second, many eosinophils showed degranulation and were positive for eosinophilic cationic protein on immunohistological examination. Third, the structures of thrombosed vessels were well preserved, which is not observed in systemic vasculitis. These patients exhibited no neoplastic features and were treated with prednisolone with excellent therapeutic results.

  5. Hypereosinophilic syndrome with isolated Loeffler′s endocarditis: Complete resolution with corticosteroids

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    Sen T

    2008-01-01

    Full Text Available Hypereosinophilic syndrome (HES is classically defined as prolonged, unexplained peripheral eosinophilia in a patient presenting with evidence of end-organ damage. The heart is involved in two forms; endomyocardial fibrosis (Davies disease and eosinophilic endocarditis (Loffler′s endocarditis. It was first reported in 1968 by Hard and Anderson. Chusid and co-workers formulated a definition with strict criteria for the diagnosis of HES as 1 peripheral blood eosinophilia more than 1500 cells/cu mm for at least six months duration 2signs, symptoms of end-organ (heart, lungs, gastrointestinal tract, skin, bone-marrow, brain involvement with eosinophil tissue infiltration/injury 3 exclusion of known secondary causes of eosinophilia. We report a case of hypereosinophilic syndrome with Loffler′s endocarditis, in the absence of endomyocardial fibrosis. The patient presented with a eosinophilic vegetation over the posterior leaflet of the mitral valve. There was complete resolution of the vegetation after two months of corticosteroid therapy.

  6. Hypereosinophilic syndrome, Churg-Strauss syndrome and parasitic diseases: possible links between eosinophilia and thrombosis.

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    Maino, Alberto; Rossio, Raffaella; Cugno, Massimo; Marzano, Angelo V; Tedeschi, Alberto

    2012-09-01

    Throughout the past decade, a possible role of eosinophils in blood coagulation and thrombosis has been suggested. We conducted a Pubmed (MEDLINE) search of case and series referring to any kind of thrombotic events described in three conditions characterised by persistent blood eosinophilia, i.e. the hypereosinophilic syndrome (HES), the Churg Strauss syndrome (CSS), and parasitic infestations from 1966 to date. One hundred and ninety-two articles were found regarding thrombotic events in HES and CSS, and 209 cases of thrombosis were extracted. One hundred and seventy- seven articles dealing with parasitic diseases and thrombosis were found, but only 15 manuscripts reporting thrombosis of unknown origin in 22 patients were selected. In HES, arterial thromboses were more frequent than in CSS (p=0.006), representing almost half of the cases (45%), while venous and mixed artero-venous thrombosis were respectively 28% and 27%. In contrast, in CSS there was a predominance of venous thrombosis (56%, p=0.006), with arterial thrombosis representing 38% of total thrombotic events, and mixed thrombosis being the least frequent (4%). The higher incidence of arterial thrombosis in HES patients can be explained by the common cardiac involvement (64% of patients). In the 22 patients with parasitoses and thrombosis, 15 had arterial thrombosis (68%) and 7 had venous thrombosis (32 %). Literature analysis shows that there are numerous reports of thrombotic events in patients with eosinophil-related disorders supporting a role for eosinophils in thrombosis. This observation raises the problem of prevention and treatment of thromboembolism particularly in HES and CSS patients.

  7. A Case of Idiopathic Hypereosinophilic Syndrome Causing Mitral Valve Papillary Muscle Rupture

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    Tiffany Tamse

    2015-01-01

    Full Text Available Idiopathic Hypereosinophilic Syndrome (IHES is a rare disease that can be difficult to diagnose as the differential is broad. This disease can cause significant morbidity and mortality if left untreated. Our patient is a 17-year-old adolescent female who presented with nonspecific symptoms of abdominal pain and malaise. She was incidentally found to have hypereosinophilia of 16,000 on complete blood count and nonspecific colitis and pulmonary edema on computed tomography. She went into cardiogenic shock due to papillary rupture of her mitral valve requiring extreme life support measures including intubation and extracorporal membrane oxygenation (ECMO as well as mitral valve replacement. Pathology of the valve showed eosinophilic infiltration as the underlying etiology. The patient was diagnosed with IHES after the exclusion of infectious, rheumatologic, and oncologic causes. She was treated with steroids with improvement of her symptoms and scheduled for close follow-up. In general patients with IHES that have cardiac involvement have poorer prognoses.

  8. Hypereosinophilic Syndrome and Clonal Eosinophilia: Point-of-Care Diagnostic Algorithm and Treatment Update

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    Tefferi, Ayalew; Gotlib, Jason; Pardanani, Animesh

    2010-01-01

    Acquired eosinophilia is operationally categorized into secondary, clonal, and idiopathic types. Causes of secondary eosinophilia include parasite infections, allergic or vasculitis conditions, drugs, and lymphoma. Clonal eosinophilia is distinguished from idiopathic eosinophilia by the presence of histologic, cytogenetic, or molecular evidence of an underlying myeloid malignancy. The World Health Organization classification system for hematologic malignancies recognizes 2 distinct subcategories of clonal eosinophilia: chronic eosinophilic leukemia, not otherwise specified and myeloid/lymphoid neoplasms with eosinophilia and mutations involving platelet-derived growth factor receptor α/β or fibroblast growth factor receptor 1. Clonal eosinophilia might also accompany other World Health Organization—defined myeloid malignancies, including chronic myelogenous leukemia, myelodysplastic syndromes, chronic myelomonocytic leukemia, and systemic mastocytosis. Hypereosinophilic syndrome, a subcategory of idiopathic eosinophilia, is defined by the presence of a peripheral blood eosinophil count of 1.5 × 109/L or greater for at least 6 months (a shorter duration is acceptable in the presence of symptoms that require eosinophil-lowering therapy), exclusion of both secondary and clonal eosinophilia, evidence of organ involvement, and absence of phenotypically abnormal and/or clonal T lymphocytes. The presence of the latter defines lymphocytic variant hyper eosinophilia, which is best classified under secondary eosinophilia. In the current review, we provide a simplified algorithm for distinguishing the various causes of clonal and idiopathic eosinophilia and discuss current therapy, including new drugs (imatinib mesylate, alemtuzumab, and mepolizumab). PMID:20053713

  9. Idiopathic hypereosinophilic syndrome resulting in distal aortic thromboembolism in a dog.

    Science.gov (United States)

    Madden, Valerie R; Schoeffler, Gretchen L

    2016-11-01

    To describe clinically significant thromboembolism as the result of idiopathic hypereosinophilic syndrome (HES) in a dog. A 3-year-old neutered female Boxer was evaluated for 2-week history of progressive respiratory difficulty and hemoptysis. A brief thoracic ultrasound performed shortly after presentation identified a presumed thrombus within the left atrium. Initial blood work revealed a marked eosinophilia 6.8 × 10(9) /L (6.8 × 10(3) /μL; reference interval, 0.1-2.1 × 10(9) /L [0.1-2.1 × 10(3) /μL]) and evidence of organ dysfunction. Within 24 hours of admission the patient developed acute paraparesis with absent femoral pulses and was euthanized. Necropsy findings included marked infiltration of multiple organs with large numbers of histologically normal eosinophils and numerous thrombi including a large aortic thrombus. This combination of findings resulted in a final diagnosis of HES with associated thromboembolism. Thromboembolism occurs relatively commonly in people with HES. While there are a few case reports of HES in the veterinary literature, this is the first to describe thromboembolism as a manifestation of this disease in a canine patient. © Veterinary Emergency and Critical Care Society 2016.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1993-07-15

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

  11. A lethal syndrome resembling branchio-oculo-facial syndrome.

    Science.gov (United States)

    Hing, A V; Torack, R; Dowton, S B

    1992-02-01

    Branchio-oculo-facial syndrome, a recently delineated autosomal dominant condition, is characterized by branchial cleft sinuses, ocular anomalies, and unusual facial appearance. A patient with branchial cleft fistulae, microphthalmia, nasomaxillary dysplasia, in addition to cardiac and CNS malformation (holoprosencephaly and meningo-encephalocele), is described. Although many features of this lethal malformation complex resemble those seen in the branchio-oculo-facial syndrome, the complex may represent a new multiple malformation syndrome.

  12. F-18 FDG PET scan findings in patients with pulmonary involvement in the hypereosinophilic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jae Hoon; Kim, Tae Hoon; Yun, Mi Jin [College of Medicine, Yonsei University, Seoul (Korea, Republic of)] (and others)

    2005-08-15

    Hypereosinophilic syndrome (HES) is an infiltrative disease of eosinophils affecting multiple organs including the lung. F-18 2-fluoro-2-deoxyglucose (F-18 FDG) may accumulate at sites of inflammation or infection, making interpretation of whole body PET scan difficult in patients with cancer. This study was to evaluate the PET findings of HES with lung involvement and to find out differential PET features between lung malignancy and HES with lung involvement. F-18 FDG PET and low dose chest CT scan was performed for screening of lung cancer. Eight patients who showed ground-glass attenuation (GGA) and consolidation on chest CT scan with peripheral blood eosinophilia were included in this study. The patients with history of parasite infection, allergy and collagen vascular disease were excluded. CT features and FDG PET findings were meticulously evaluated for the distribution of GGA and consolidation and nodules on CT scan and mean and maximal SUV of abnormalities depicted on F-18 FDG PET scan. In eight patients, follow-up chest CT scan and FDG PET scan were done one or two weeks after initial study. F-18 FDG PET scan identified metabolically active lesions in seven out of eight patients. Maximal SUV was ranged from 2.8 to 10.6 and mean SUV was ranged from 2.2 to 7.2. Remaining one patient had maximal SUV of 1.3. On follow-up FDG PET scan taken on from one to four weeks later showed decreased degree of initially noted FDG uptakes or migration of previously noted abnormal FDG uptakes. Lung involvement in the HES might be identified as abnormal uptake foci on FDG PET scan mimicking lung cancer. Follow-up FDG PET and CT scan for the identification of migration or resolution of abnormalities and decrement of SUV would be of help for the differentiation between lung cancer and HES with lung involvement.

  13. Carisoprodol withdrawal syndrome resembling neuroleptic malignant syndrome: Diagnostic dilemma

    Directory of Open Access Journals (Sweden)

    Gunchan Paul

    2016-01-01

    Full Text Available Soma (Carisoprodol is N-isopropyl-2 methyl-2-propyl-1,3-propanediol dicarbamate; a commonly prescribed, centrally acting skeletal muscle relaxant. Neuroleptic malignant syndrome (NMS is a potentially life-threatening adverse effect of antipsychotic agents. Although diagnostic criteria for NMS have been established, it should be recognized that atypical presentations occur and more flexible diagnostic criteria than currently mandated, may be warranted. We wish to report a postoperative case of bilateral knee replacement who presented with carisoprodol (Soma withdrawal resembling NMS that was a diagnostic dilemma. Subsequently, it was successfully treated with oral baclofen in absence of sodium dantrolene.

  14. Carisoprodol withdrawal syndrome resembling neuroleptic malignant syndrome: Diagnostic dilemma

    Science.gov (United States)

    Paul, Gunchan; Parshotam, Gautam L; Garg, Rajneesh

    2016-01-01

    Soma (Carisoprodol) is N-isopropyl-2 methyl-2-propyl-1,3-propanediol dicarbamate; a commonly prescribed, centrally acting skeletal muscle relaxant. Neuroleptic malignant syndrome (NMS) is a potentially life-threatening adverse effect of antipsychotic agents. Although diagnostic criteria for NMS have been established, it should be recognized that atypical presentations occur and more flexible diagnostic criteria than currently mandated, may be warranted. We wish to report a postoperative case of bilateral knee replacement who presented with carisoprodol (Soma) withdrawal resembling NMS that was a diagnostic dilemma. Subsequently, it was successfully treated with oral baclofen in absence of sodium dantrolene. PMID:27625493

  15. CD3-CD4+ lymphoid variant of hypereosinophilic syndrome: nodal and extranodal histopathological and immunophenotypic features of a peripheral indolent clonal T-cell lymphoproliferative disorder.

    Science.gov (United States)

    Lefèvre, Guillaume; Copin, Marie-Christine; Roumier, Christophe; Aubert, Hélène; Avenel-Audran, Martine; Grardel, Nathalie; Poulain, Stéphanie; Staumont-Sallé, Delphine; Seneschal, Julien; Salles, Gilles; Ghomari, Kamel; Terriou, Louis; Leclech, Christian; Morati-Hafsaoui, Chafika; Morschhauser, Franck; Lambotte, Olivier; Ackerman, Félix; Trauet, Jacques; Geffroy, Sandrine; Dumezy, Florent; Capron, Monique; Roche-Lestienne, Catherine; Taieb, Alain; Hatron, Pierre-Yves; Dubucquoi, Sylvain; Hachulla, Eric; Prin, Lionel; Labalette, Myriam; Launay, David; Preudhomme, Claude; Kahn, Jean-Emmanuel

    2015-08-01

    The CD3(-)CD4(+) lymphoid variant of hypereosinophilic syndrome is characterized by hypereosinophilia and clonal circulating CD3(-)CD4(+) T cells. Peripheral T-cell lymphoma has been described during this disease course, and we observed in our cohort of 23 patients 2 cases of angio-immunoblastic T-cell lymphoma. We focus here on histopathological (n=12 patients) and immunophenotypic (n=15) characteristics of CD3(-)CD4(+) lymphoid variant of hypereosinophilic syndrome. Atypical CD4(+) T cells lymphoid infiltrates were found in 10 of 12 CD3(-)CD4(+) L-HES patients, in lymph nodes (n=4 of 4 patients), in skin (n=9 of 9) and other extra-nodal tissues (gut, lacrymal gland, synovium). Lymph nodes displayed infiltrates limited to the interfollicular areas or even an effacement of nodal architecture, associated with proliferation of arborizing high endothelial venules and increased follicular dendritic cell meshwork. Analysis of 2 fresh skin samples confirmed the presence of CD3(-)CD4(+) T cells. Clonal T cells were detected in at least one tissue in 8 patients, including lymph nodes (n=4 of 4): the same clonal T cells were detected in blood and in at least one biopsy, with a maximum delay of 23 years between samples. In the majority of cases, circulating CD3(-)CD4(+) T cells were CD2(hi) (n=9 of 14), CD5(hi) (n=12 of 14), and CD7(-)(n=4 of 14) or CD7(low) (n=10 of 14). Angio-immunoblastic T-cell lymphoma can also present with CD3(-)CD4(+) T cells; despite other common histopathological and immunophenotypic features, CD10 expression and follicular helper T-cell markers were not detected in lymphoid variant of hypereosinophilic syndrome patients, except in both patients who developed angio-immunoblastic T-cell lymphoma, and only at T-cell lymphoma diagnosis. Taken together, persistence of tissular clonal T cells and histopathological features define CD3(-)CD4(+) lymphoid variant of hypereosinophilic syndrome as a peripheral indolent clonal T-cell lymphoproliferative

  16. Hypereosinophilic syndrome associated with ulcerative colitis presenting with recurrent Loeffler’s endocarditis and left ventricular thrombus treated successfully with immune suppressive therapy and anticoagulation

    Science.gov (United States)

    Koneru, Srikanth; Koshy, George; Sharp, Colin; Khalafallah, Alhossain A

    2013-01-01

    We reported a case of a 28-year-old Caucasian woman with hypereosinophilic syndrome (HES) associated with ulcerative colitis who presented on separate occasions with Loeffler’s endocarditis. She was admitted in 2008 with fever, headache, confusion and visual loss. Diagnostic workup uncovered an eosinophilia of 3.1×109/L and major ECG abnormalities. Subsequent echocardiography revealed left ventricular wall motion abnormalities with mural thrombus. MRI brain scan showed multiple white matter lesions consistent with acute infarcts. She recovered rapidly with corticosteroids and anticoagulation. Four years later she re-presented with headache, fatigue and an eosinophilia of 13.4×109/L. This occurred 3 months after cessation of immunosuppression and within 12 months of total colectomy for fulminant ulcerative colitis. Echocardiography was suggestive of hypereosinophilic endomyocardial fibrosis with left ventricular thrombus. Anticoagulation and corticosteroids were resumed with good effect. This report highlights the findings, treatment and outcome of ulcerative colitis-associated HES manifesting as recurrent Loeffler’s endocarditis. PMID:24014425

  17. Hypereosinophilic syndrome associated with ulcerative colitis presenting with recurrent Loeffler's endocarditis and left ventricular thrombus treated successfully with immune suppressive therapy and anticoagulation.

    Science.gov (United States)

    Koneru, Srikanth; Koshy, George; Sharp, Colin; Khalafallah, Alhossain A

    2013-09-05

    We reported a case of a 28-year-old Caucasian woman with hypereosinophilic syndrome (HES) associated with ulcerative colitis who presented on separate occasions with Loeffler's endocarditis. She was admitted in 2008 with fever, headache, confusion and visual loss. Diagnostic workup uncovered an eosinophilia of 3.1×10⁹/L and major ECG abnormalities. Subsequent echocardiography revealed left ventricular wall motion abnormalities with mural thrombus. MRI brain scan showed multiple white matter lesions consistent with acute infarcts. She recovered rapidly with corticosteroids and anticoagulation. Four years later she re-presented with headache, fatigue and an eosinophilia of 13.4×10⁹/L. This occurred 3 months after cessation of immunosuppression and within 12 months of total colectomy for fulminant ulcerative colitis. Echocardiography was suggestive of hypereosinophilic endomyocardial fibrosis with left ventricular thrombus. Anticoagulation and corticosteroids were resumed with good effect. This report highlights the findings, treatment and outcome of ulcerative colitis-associated HES manifesting as recurrent Loeffler's endocarditis.

  18. Hypereosinophilic Syndrome (HES)

    Science.gov (United States)

    ... your health care providers regarding the risks and benefits of the treatment for your specific HES- related ... Prognosis The prognosis in HES depends on the organ systems involved, disease severity and response ... Corporate Donations / Matching Funds: fundraise@apfed.org For assistance in ...

  19. Ventricular Tachycardia and Resembling Acute Coronary Syndrome During Pheochromocytoma Crisis

    Science.gov (United States)

    Li, Shi-jun; Wang, Tao; Wang, Lin; Pang, Zhan-qi; Ma, Ben; Li, Ya-wen; Yang, Jian; Dong, He

    2016-01-01

    Abstract Pheochromocytomas are neuroendocrine tumors, and its cardiac involvement may include transient myocardial dysfunction, acute coronary syndrome (ACS), and even ventricular arrhythmias. A patient was referred for evaluation of stuttering chest pain, and his electrocardiogram showed T-wave inversion over leads V1 to V4. Coronary angiography showed 90% stenosis in the mid-left anterior descending coronary artery (LAD), which was stented. Five days later, the patient had ventricular tachycardia, and severe hypertension, remarkable blood pressure fluctuation between 224/76 and 70/50 mm Hg. The patient felt abdominal pain and his abdominal ultrasound showed suspicious right adrenal gland tumor. Enhanced computed tomography of adrenal gland conformed that there was a tumor in right adrenal gland accompanied by an upset level of aldosterone. The tumor was removed by laparoscope, and the pathological examination showed pheochromocytoma. After the surgery, the blood pressure turned normal gradually. There was no T-wave inversion in lead V1-V4. Our case illustrates a rare pheochromocytoma presentation with a VT and resembling ACS. In our case, the serious stenosis in the mid of LAD could be explained by worsen the clinical course of myocardial ischemia or severe coronary vasospasm by the excessive amounts of catecholamines released from the tumor. Coronary vasospasm was possible because he had no classic coronary risk factors (e.g. family history and smoking habit, essential hypertension, hyperglycemia and abnormal serum lipoprotein, high body mass index). Thus, pheochromocytoma was missed until he revealed the association of his symptoms with abdominalgia. As phaeochromocytomas that present with cardiovascular complications can be fatal, it is necessary to screen for the disease when patients present with symptoms indicating catecholamine excess. PMID:27057898

  20. 嗜酸粒细胞增多综合征的治疗进展%Therapeutic Progress of Hypereosinophilic Syndrome

    Institute of Scientific and Technical Information of China (English)

    李奎

    2012-01-01

    嗜酸粒细胞增多综合征(HES)是一组病因不明,以骨髓、外周血和组织中嗜酸粒细胞增多为特点,并累及多器官的疾病.随着HES发病机制的研究,越来越多的亚类被独立出来,发病机制明确的(如FIP1L1-PDGFRA)融合基因阳性导致的HES有特效的治疗药物--伊马替尼,病因不明的HES以糖皮质激素为主.同时,新型生物制剂(如美泊利单抗、阿伦单抗)也显示出了良好的应用前景.%As a group of idiopathic diseases of unknown origin,hypereosinophilic syndrome( HES )is characterized by eosinophilia in bone marrow,peripheral blood and tissue usually with multiple-organ involvement. With the the progress of research of HES pathogenesis, more and more varieties were defined. Clear pathogenesis of HES such as FIP1 L1 -PDGFRA fusion gene positive HES has a special efficient drug-imatinib, and the rest with unclear pathogenesis are mainly treated with glucocorticoid. Meanwhile, new biological agents such as mepolizumab and alemtuzumab have also shown a promising prospect.

  1. Cardiac Manifestations from Non-FIP1L1-PDGFR-Associated Hypereosinophilic Syndrome in a 13-Year-Old African American Boy

    Directory of Open Access Journals (Sweden)

    Cindy M. Salm

    2009-01-01

    Full Text Available Hypereosinophilic syndrome (HES is a rare disorder typically seen in males, aged 20 to 50, with a predisposition for Caucasians. It is marked by overproduction of eosinophils (>1,500/L and multiorgan system damage due to eosinophilic infiltration and mediator release. There are multiple variants of HES. Cardiac complications are more common in myeloproliferative HES associated with the FIP1L1-PDGFR mutation. Sequelae range from acute necrosis and thrombus formation to fibrosis of the endomyocardium. We describe a young boy who presented with chest pain and dyspnea. A diagnosis of HES was made after all other etiologies of eosinophilia were excluded. Although he was found to be negative for the FIP1L1-PDGFR mutation, his cardiac complications included pericardial effusion and restrictive cardiomyopathy, without myocardial necrosis. Multi-organ involvement resulted in pericarditis, pleuritis, nephritis, and dermatitis. In this paper, we review his case and discuss the known subtypes of HES, the classic cardiac complications, and available treatment strategies.

  2. 嗜酸粒细胞增多综合征和嗜酸性皮肤病%Hypereosinophilic syndrome and eosinophilic dermatoses

    Institute of Scientific and Technical Information of China (English)

    章星琪

    2012-01-01

    Hypereosinophilic syndrome (HES) constitutes a heterogeneous group of disorders characterized by persistent peripheral blood eosinophilia,associated with organ damage or dysfunction.There are many subtypes of HES,including myeloproliferative,lymphocytic,overlap,familial,associated,and undefined variants,which may be of benign or malignant origins.Eosinophilic dermatoses refer to a heterogeneous group of diseases characterized by an inflammatory infiltration of eosinophils in skin tissue,such as insect bites,drug eruption, pregnancy-related dermatoses, urticaria, angioedema, allergic contact dermatitis, and atopic dermatitis,as well as a group of diseases with distinct histological features,such as Well's syndrome,Kimura's disease,eosinophilic pustular folliculitis,granuloma faciale,etc.%嗜酸粒细胞增多综合征是一组以外周血嗜酸粒细胞持续性升高,伴有器官损害或功能不全的疾病,可分为髓系增生性、淋巴细胞性、重叠型、家族性、伴随现象和未分类等临床亚型,其中包括良性和恶性疾病.嗜酸性皮病是指以皮肤组织炎性浸润中存在嗜酸粒细胞为特征的一组皮肤病,常见的有昆虫叮咬、药疹、妊娠性皮病、荨麻疹、血管性水肿、过敏性接触性皮炎和特应性皮炎等,还包括一些具有组织病理特点的疾病,如Well综合征、木村病、嗜酸粒细胞增多性脓疱性毛囊炎、面部肉芽肿等.

  3. Two sisters resembling Gorlin-Chaudhry-Moss syndrome.

    Science.gov (United States)

    Aravena, Teresa; Passalacqua, Cristóbal; Pizarro, Oscar; Aracena, Mariana

    2011-10-01

    The Gorlin-Chaudhry-Moss syndrome (GCMS), was describe initially by Gorlin et al. [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and normal intelligence. Two other sporadic instances have been documented. Here, we report on two sisters with a condition with some similarities to GCMS as well as some differences, which could represent either previously unreported variability in GCMS, or it may represent a novel disorder.

  4. A new lysosomal storage disorder resembling Morquio syndrome in sibs.

    Science.gov (United States)

    Perrin, Laurence; Fenneteau, Odile; Ilharreborde, Brice; Capri, Yline; Gérard, Marion; Quoc, Emmanuel Bui; Passemard, Sandrine; Ghoumid, Jamal; Caillaud, Catherine; Froissart, Roseline; Tabet, Anne-Claude; Lebon, Sophie; El Ghouzzi, Vincent; Mazda, Keyvan; Verloes, Alain

    2012-03-01

    We report two male sibs, born from unrelated French Caribbean parents, presenting with an unclassifiable storage disorder. Pregnancy and delivery were uneventful. Stunted growth was noted during the first year of life. Both children have short stature (below - 4SD) with short trunk, barrel chest, micromelia with rhizomelic shortening, severe kyphoscoliosis, pectus carinatum, short hands and feet with metatarsus adductus, and excessive joint laxity of the small joints. Learning difficulties with borderline intelligence quotient (IQ) were noted in one of them. They had no hepatomegaly, no splenomegaly, and no dysmorphism. Skeletal X-rays survey demonstrated generalized platyspondyly with tongue-like deformity of the anterior part of the vertebral bodies, hypoplasia of the odontoid process, generalized epiphyseal dysplasia and abnormally shaped metaphyses. The acetabular roofs had a trident aspect. Ophthalmologic and cardiac examinations were normal. Spine deformity required surgical correction in one of the patient at age 4 years. Lysosomal enzymes assays including N-acetylgalactosamine-6-sulfate sulfatase and β-galactosidase were normal, excluding mucopolysaccharidoses type IV A and IV B (Morquio syndrome), respectively. Qualitative analysis found traces of dermatan and chondroitin-sulfates in urine, but quantitative glycosaminoglycan excretion fell within normal limits. They were no vacuolated lymphocytes. Abnormal coarse inclusions were present in eosinophils. Mild Alder anomaly was observed in polymorphonuclears. Granulations were discretely metachromatic with toluidine blue. Those morphological anomalies are in favor of a lysosomal storage disease. No inclusions were found in skin fibroblasts. We hypothesize that these two boys have a distinct autosomal recessive or X-linked lysosomal storage disorder of unknown origin that shares clinical and radiological features with Morquio disease.

  5. Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome).

    Science.gov (United States)

    Pruszewicz, Antoni; Wiskirska-Woźnica, Bożena; Wojnowski, Waldemar; Czerniejewska, Hanna; Jackowska, Joanna; Jarmuż, Małgorzata; Szyfter, Krzysztof; Leszczyńska, Małgorzata

    2014-01-01

    Female, 6 FINAL DIAGNOSIS: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: - - Clinical Procedure: - Specialty: Otolaryngology. Congenital defects. Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertions, and trisomies) such as Down syndrome (trisomy 21), Turner syndrome, Edwards syndrome (trisomy 18), or Patau syndrome (trisomy 13). Sometimes phenotype may delusively correspond to the characteristic features of a given syndrome, but genotype tests do not confirm its presence. We present the case of a 6-year-old girl admitted to the Clinic of Phoniatrics and Audiology for the assessment of communication in the course of congenital malformations with phenotype characteristic for trisomy 18 (Edwards syndrome). Immediately upon birth, dysmorphic changes suggesting trisomy 18 (Edwards syndrome) were observed, but trisomy 18 was excluded after karyotype test results were normal (46, XX). DISTURBED ARTICULATION WAS DIAGNOSED: deformed linguo-dental and palatal sounds, interdental realization with flat tongue of the /s/, /z/, /c/, /dz/, /ś/, /ź/, /ć/, /dz/ sounds (sigmatismus interdentalis). Hearing loss was confirmed.

  6. Intrathecal baclofen withdrawal resembling serotonin syndrome in an adolescent boy with cerebral palsy.

    Science.gov (United States)

    Salazar, Maria L; Eiland, Lea S

    2008-10-01

    Intrathecal baclofen (ITB) is increasingly being used to reduce spasticity among children with cerebral palsy, dystonia, and spinal cord injuries. However, complications such as withdrawal, which is a potentially life-threatening condition, can occur. Intrathecal baclofen withdrawal should be differentiated with autonomic dysreflexia, malignant hyperthermia, neuroleptic malignant syndrome, and serotonin syndrome. We report a case of ITB withdrawal secondary to low residual volume in the pump reservoir and resembling serotonin syndrome in an adolescent with cerebral palsy. He presented with agitation, diaphoresis, increasing spasticity, rigidity, jitteriness, hyperreflexia, clonus, tachycardia, hypertension, and rhabdomyolysis. Treatment consisted of emergent refilling of the pump, intravenous diazepam, and oral cyproheptadine. We also emphasize the importance of prompt recognition of ITB withdrawal among high-risk patients.

  7. Status dystonicus resembling the intrathecal baclofen withdrawal syndrome: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Muirhead William

    2010-08-01

    Full Text Available Abstract Introduction Status dystonicus is a rare but life-threatening disorder characterized by increasingly frequent and severe episodes of generalized dystonia that may occur in patients with primary or secondary dystonia. Painful and repetitive spasms interfere with respiration and may cause metabolic disturbances such as hyperpyrexia, dehydration, respiratory insufficiency, and acute renal failure secondary to rhabdomyolysis. Intrathecally administered baclofen, delivered by an implantable pump system, is widely used for the treatment of refractory spasticity. Abrupt cessation of intrathecal baclofen infusion has been associated with a severe withdrawal syndrome comprised of dystonia, autonomic dysfunction, hyperthermia, end-organ failure and sometimes death. The aetiology of this syndrome is not well understood. Status dystonicus describes the episodes of acute and life-threatening generalized dystonia, which occasionally manifest themselves in patients with dystonic syndromes. Case presentation We present the case of a nine-year-old Caucasian boy who experienced a severe episode of status dystonicus with no known cause and clinical features resembling those described in intrathecal baclofen withdrawal. Our patient subsequently underwent the placement of an intrathecal baclofen pump without incident. Conclusion The similarity between the clinical features of the case we present and those reported in connection to abrupt withdrawal of intrathecal baclofen is emphasized. Several drugs, although not intrathecal baclofen withdrawal, have previously been associated with status dystonicus. The similarity between the life-threatening dystonic episode experienced by our patient, and those reported in intrathecal baclofen withdrawal, highlights the possibility that, rather than representing a true physiological withdrawal syndrome, abrupt withdrawal of intrathecal baclofen may simply precipitate an episode of status dystonicus in susceptible

  8. An unusual clinical presentation resembling superior vena cava syndrome post heart surgery

    Directory of Open Access Journals (Sweden)

    Pellegrini Ronald

    2005-10-01

    Full Text Available Abstract Background An unusual sequence of post operative events heralded by hemodynamic deterioration followed by dyspnea and rapidly progressive dilatation of superficial neck and facial veins, resembling a superior vena cava syndrome, two days post surgical resection of filamentous aortic valve masses, closure of a patent foramen ovale, and performance of a modified Maze procedure for atrial fibrillation in a patient that presented with transient neurologic findings is presented. Case Presentation Although both clinical findings and hemodynamic derangements completely resolved following tricuspid valve repair aimed to correct the new onset severe tricuspid regurgitation noted post operatively; a clear mechanism was not readily obvious and diagnostic testing data somewhat conflictive. We present a careful retrospective examination of all clinical data and review possible clinical entities that could have been implicated in this particular case and recognize that transesophageal echocardiographic findings were most useful in identifying the best course of action. Conclusion After reviewing all clinical data and despite the inconclusive nature of test results; the retrospective examination of transesophageal echocardiographic findings proved to be most useful in identifying the best course of action. We postulate that in our case, resolution of the suspected pulmonary embolism with anticoagulation and reestablishment of a normal right ventricular geometry with tricuspid valve repair worked in unison in restoring normal hemodynamics and resolving both dyspnea and venous dilatation.

  9. Neuropatia periférica e miosite na síndrome hipereosinofílica idiopática: relato de caso Peripheral neuropathy and myositis in idiopathic hypereosinophilic syndrome: case report

    Directory of Open Access Journals (Sweden)

    Rosana Herminia Scola

    2004-03-01

    Full Text Available Descrevemos um caso de síndrome hipereosinofílica idiopática, com manifestações clínicas de neuropatia periférica e sinais de miosite inflamatória. Trata-se de mulher de 20 anos de idade, que apresentou dificuldade progressiva para caminhar com quedas freqüentes e edema de membros inferiores até o nível do joelho, associado a parestesias e cãibras. O exame neurológico revelou hipotonia, arreflexia e redução da força e sensibilidade nos membros inferiores. O exame parasitológico de fezes foi negativo e o hemograma mostrou 24 % de eosinófilos (1848/mm³. Estudo eletrodiagnóstico mostrou comprometimento axonal sensitivo-motor nos nervos dos membros inferiores. A biópsia muscular mostrou discreta reação inflamatória perivascular e intersticial. Tratada com prednisona a paciente apresentou remissão dos sintomas em dois meses.We describe a case of idiopathic hypereosinophilic syndrome manifested by an axonal sensoriomotor polyneuropathy (ASMP and signals of myositis. A 20 years old woman began with progressive gait impairment with drops and presented with subacute lower limb edema associated with paresthesis and cramps. She showed hypotonia in the lower limbs, absence of knee and ankle jerks, steppage gait, and decreased sensation on both legs. Examinations of stools were negative. Blood examination showed 7700 leukocytes with 24% (1848/mm³ eosinophils. Electrodiagnostic studies showed axonal lesion in sensory and motor nerves. Muscle biopsy showed type 2 muscle fibers atrophy with discrete inflammatory cells, predominantly lymphocytic in perivascular and interstitial locations. She was treated with prednisone and all the symptoms subsided after two months.

  10. When a death apparently associated to sexual assault is instead a natural death due to idiopathic hypereosinophilic syndrome: The importance of gamma-hydroxybutyric acid analysis in vitreous humor.

    Science.gov (United States)

    Busardò, Francesco Paolo; Portelli, Francesca; Montana, Angelo; Rotolo, Maria Concetta; Pichini, Simona; Maresi, Emiliano

    2017-05-01

    We here report a case involving a 21-year-old female, found dead in a central square of a city in the south of Italy. Initial evidences and circumstances were suggestive of a death associated with a sexual assault. Two peripheral blood and two vitreous humor samples were collected for the purpose of gamma-hydroxybutyric acid (GHB) testing from the dead body at two different post-mortem intervals (PMIs): approximately 2 (t0) and 36 (t1) hours. The obtained results showed that, between t0 and t1, there was an increase of GHB concentrations in peripheral blood and vitreous humor of 66.3% and 8.1%, respectively. This case was the first evidence of GHB post mortem production in a dead body and not in vitro, showing that vitreous humor is less affected than peripheral blood in GHB post-mortem production. The value detected at t1 in peripheral blood (53.4µg/mL) exceeded the proposed cut-off and if interpreted alone would have led to erroneous conclusions. This was not the case of vitreous humor GHB, whose post-mortem increase was minimal and it allowed to exclude a GHB exposure. Only after a broad forensic investigation including a complete autopsy, serological, histological, toxicological and haematology analyses, a diagnosis of idiopathic hypereosinophilic syndrome, a myeloproliferative disorder characterized by persistent eosinophilia associated with damage to multiple organs, was made and the cause of death was due to a pulmonary eosinophilic vasculitis responsible for an acute respiratory failure. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. Ventricular Tachycardia and Resembling Acute Coronary Syndrome During Pheochromocytoma Crisis: A Case Report.

    Science.gov (United States)

    Li, Shi-Jun; Wang, Tao; Wang, Lin; Pang, Zhan-Qi; Ma, Ben; Li, Ya-Wen; Yang, Jian; Dong, He

    2016-04-01

    Pheochromocytomas are neuroendocrine tumors, and its cardiac involvement may include transient myocardial dysfunction, acute coronary syndrome (ACS), and even ventricular arrhythmias.A patient was referred for evaluation of stuttering chest pain, and his electrocardiogram showed T-wave inversion over leads V1 to V4. Coronary angiography showed 90% stenosis in the mid-left anterior descending coronary artery (LAD), which was stented. Five days later, the patient had ventricular tachycardia, and severe hypertension, remarkable blood pressure fluctuation between 224/76 and 70/50 mm Hg. The patient felt abdominal pain and his abdominal ultrasound showed suspicious right adrenal gland tumor. Enhanced computed tomography of adrenal gland conformed that there was a tumor in right adrenal gland accompanied by an upset level of aldosterone.The tumor was removed by laparoscope, and the pathological examination showed pheochromocytoma. After the surgery, the blood pressure turned normal gradually. There was no T-wave inversion in lead V1-V4. Our case illustrates a rare pheochromocytoma presentation with a VT and resembling ACS. In our case, the serious stenosis in the mid of LAD could be explained by worsen the clinical course of myocardial ischemia or severe coronary vasospasm by the excessive amounts of catecholamines released from the tumor. Coronary vasospasm was possible because he had no classic coronary risk factors (e.g. family history and smoking habit, essential hypertension, hyperglycemia and abnormal serum lipoprotein, high body mass index). Thus, pheochromocytoma was missed until he revealed the association of his symptoms with abdominalgia.As phaeochromocytomas that present with cardiovascular complications can be fatal, it is necessary to screen for the disease when patients present with symptoms indicating catecholamine excess.

  12. Report one child with idiopathic hypereosinophilic syndrome%儿童特发性嗜酸性粒细胞增多综合征1例报告

    Institute of Scientific and Technical Information of China (English)

    王怀立; 张园园; 禚志红; 王叼; 谢垒; 陈晓昕; 李海英

    2014-01-01

    目的:探讨儿童特发性嗜酸性粒细胞增多综合征(IHES)的诊断与治疗。方法回顾性分析1例6岁的IHES患儿的病程及诊治过程。结果患儿以腹部不适起病,短期内出现腹胀、呼吸困难、黄疸、四肢水肿,且肝脾进行性增大。血常规示嗜酸性粒细胞186.39×109/L,骨髓涂片示成熟嗜酸性粒细胞比例明显增加至90.4%,FIL1P1-PDG-FRα融合基因检测、寄生虫、自身抗体检测均为阴性,CT及其他检查提示消化、循环、血液、神经系统均受累。诊断考虑IHES。给予羟基脲联合激素应用,嗜酸性粒细胞数明显下降,但症状、体征无缓解,后出现多脏器功能衰竭。结论儿童IHES临床罕见,治疗、预后有待于进一步探讨。%Objective To discuss the diagnosis and treatment of idiopathic hypereosinophilic syndrome (IHES) in children. Method The course and treatment process of a 6-year-old child with IHES had been retrospectively analyzed. Result The boy was admitted for abdominal discomfort and poor appetite, quickly developed into abdominal distension, dyspnea, jaundice, edema, and worsen hepatosplenomegaly. Routine blood test showed that the eosinophilia was 186.39×109/L. Bone marrow smear showed that the mature eosinophilcell granulocyles signiifcantly increased to 90.4%. The FIL1P1-PDGFRαfusion gene detection, parasites and antibodies tests were all negative. CT and other examinations indicated that the digestion, circulation, blood and nervous system were all affected. The diagnosis of IHES was considered. Hydroxycarbamide and steroids applied, the eosinophil decrease, however, the symptoms no relief, eventually developed to the multiple organ failure. Conclusion IHES is rare in children. Further studies are necessary regarding the treatment and prognosis.

  13. Acute paretic syndrome in juvenile White Leghorn chickens resembles late stages of acute inflammatory demyelinating polyneuropathies in humans

    Directory of Open Access Journals (Sweden)

    Preisinger Rudolf

    2010-01-01

    Full Text Available Abstract Background Sudden limb paresis is a common problem in White Leghorn flocks, affecting about 1% of the chicken population before achievement of sexual maturity. Previously, a similar clinical syndrome has been reported as being caused by inflammatory demyelination of peripheral nerve fibres. Here, we investigated in detail the immunopathology of this paretic syndrome and its possible resemblance to human neuropathies. Methods Neurologically affected chickens and control animals from one single flock underwent clinical and neuropathological examination. Peripheral nervous system (PNS alterations were characterised using standard morphological techniques, including nerve fibre teasing and transmission electron microscopy. Infiltrating cells were phenotyped immunohistologically and quantified by flow cytometry. The cytokine expression pattern was assessed by quantitative real-time PCR (qRT-PCR. These investigations were accomplished by MHC genotyping and a PCR screen for Marek's disease virus (MDV. Results Spontaneous paresis of White Leghorns is caused by cell-mediated, inflammatory demyelination affecting multiple cranial and spinal nerves and nerve roots with a proximodistal tapering. Clinical manifestation coincides with the employment of humoral immune mechanisms, enrolling plasma cell recruitment, deposition of myelin-bound IgG and antibody-dependent macrophageal myelin-stripping. Disease development was significantly linked to a 539 bp microsatellite in MHC locus LEI0258. An aetiological role for MDV was excluded. Conclusions The paretic phase of avian inflammatory demyelinating polyradiculoneuritis immunobiologically resembles the late-acute disease stages of human acute inflammatory demyelinating polyneuropathy, and is characterised by a Th1-to-Th2 shift.

  14. Murine adenovirus infection of SCID mice induces hepatic lesions that resemble human Reye syndrome.

    OpenAIRE

    Pirofski, L.; Horwitz, M S; Scharff, M. D.; Factor, S. M.

    1991-01-01

    Murine adenovirus type 1 (MAV-1) infection of CB-17 SCID mice (which are homozygous for the severe combined immunodeficiency mutation) induces hepatic histopathologic and ultrastructural features that are strikingly similar to human Reye syndrome. Gross pathologic examination of MAV-1-infected mice revealed only pale yellow liver tissue. Histopathologic studies of tissue from MAV-1-infected mice revealed diffuse hepatic injury manifested by microvesicular fatty degenerative changes of hepatoc...

  15. Chronic Pituitary Failure Resembling Sheehan's Syndrome Following a Bite of Russell's Viper. A Case Report.

    Science.gov (United States)

    Srinivasan, K G; Srividya, S; Usha Nandhini, K P; Ramprabananth, S

    2010-03-01

    Hypopituitarism can be the sequela of a variety of causes like postpartum pituitary necrosis or Sheehan's syndrome, lymphocytic hypophysitis, trauma and encephalitis. A very rare cause is envenomation by a bite of a Russell's viper. Very few cases with documented imaging findings of chronic pituitary failure resulting from snake bite have been reported. We describe a case of hypopituitarism with clinical, endocrine and magnetic resonance (MR) imaging studies occurring as a delayed complication of snake bite.

  16. Eosinofilia reacional, leucemia eosinofílica crônica e síndrome hipereosinofílica idiopática Reactive eosinophilia, chronic eosinophilic leukemia and idiopathic hypereosinophilic syndrome

    Directory of Open Access Journals (Sweden)

    Maria de Lourdes Lopes Ferrari Chauffaille

    2010-01-01

    Full Text Available A eosinofilia é freqüente na prática clínica, principalmente quando os valores estão entre 500 e 1000 eosinófilos/uL e indica a presença de doença parasitária, alérgica ou reação a medicamentos. Afora essas situações, a eosinofilia pode ser devida a doenças do tecido conjuntivo, infecções e, mais raramente, a doença hematológica maligna ou a tumores sólidos. Os critérios estabelecidos na década de 70 para a definição para a definição da síndrome hipereosinofílica idiopática se tornaram insuficientes para caracterizar todas as entidades albergadas sob o termo eosinofilia e, hoje, melhor compreendidas graças aos avanços na biologia celular e molecular, que proporcionaram a caracterização de doenças distintas e que envolvem células das linhagens mieloide e linfoide. Nesse contexto, as eosinofilias sanguíneas são categorizadas como reacionais, clonais e idiopáticas (SHE. O advento de terapia antitirosinoquinase (a exemplo do mesilato de imatinibe, eficaz para os casos com o rearranjo gênico FIP1L1/PDGFR, também abriu novas perspectivas para o controle ideal da leucemia eosinofílica crônica. Daí a importância do diagnóstico preciso e rápido para a indicação terapêutica ideal, antes que se instalem as complicações orgânicas, em especial cardíacas, que são irreversíveis. O presente manuscrito objetiva rever as situações de eosinofilia sanguínea e oferecer uma atualização da investigação diagnóstica e terapêutica.Mild eosinophilia with values of less than 1000 eosinophils/µL is commonly seen in the clinical practice and can be secondary to parasitic, inflammatory or allergic diseases or to drug reactions. Additionally, eosinophilia may be due to connective tissue disorders, infections and occasionally to hematopoietic malignancies or solid tumors. The criteria established in the 1970s, for the definition of idiopathic hypereosinophilic syndrome is today unsatisfactory to characterize all

  17. Adult eosinophilic gastroenteritis and hypereosinophilic syndromes

    Institute of Scientific and Technical Information of China (English)

    Hugh James Freeman

    2008-01-01

    Eosinophilic gastroenteritJs (EGE) in the adult is a distinctive pathologically-based disorder characterized by an eosinophil-predominant mucosal inflammatory process. Most often, the disorder is detected during endoscopic investigation for abdominal pain or diarrhea. Other causes of gastric and intestinal mucosal eosinophilia require exclusion, including parasitic infections and drug-induced causes. Occasionally, the muscle wall or serosal surface may be involved. EGE appears to be more readily recognized, in large part, due to an evolution in the imaging methods used to evaluate abdominal pain and diarrhea, in particular, endoscopic imaging and mucosal biopsies. Definition of EGE, however, may be difficult, as the normal ranges of eosinophil numbers in normal and abnormal gastric and intestinal mucosa are not well standardized. Also, the eosinophilic inflammatory process may be either patchy or diffuse and the detection of the eosinophilic infiltrates may vary depending on the method of biopsy fixation. Treatment has traditionally focused on resolution of symptoms, and, in some instances, eosinophil quantification in pre-treatment and post-treatment biopsies. Future evaluation and treatment of EGE may depend on precise serological biomarkers to aid in definition of the long-term natural history of the disorder and its response to pharmacological or biological forms of therapy.

  18. White Feces Syndrome of Shrimp Arises from Transformation, Sloughing and Aggregation of Hepatopancreatic Microvilli into Vermiform Bodies Superficially Resembling Gregarines

    Science.gov (United States)

    Sriurairatana, Siriporn; Boonyawiwat, Visanu; Gangnonngiw, Warachin; Laosutthipong, Chaowanee; Hiranchan, Jindanan; Flegel, Timothy W.

    2014-01-01

    Accompanying acute hepatopancreatic necrosis disease (AHPND) in cultivated Asian shrimp has been an increasing prevalence of vermiform, gregarine-like bodies within the shrimp hepatopancreas (HP) and midgut. In high quantity they result in white fecal strings and a phenomenon called white feces syndrome (WFS). Light microscopy (LM) of squash mounts and stained smears from fresh HP tissue revealed that the vermiform bodies are almost transparent with widths and diameters proportional to the HP tubule lumens in which they occur. Despite vermiform appearance, they show no cellular structure. At high magnification (LM with 40-100x objectives), they appear to consist of a thin, outer membrane enclosing a complex of thicker, inter-folded membranes. Transmission electron microscopy (TEM) revealed that the outer non-laminar membrane of the vermiform bodies bore no resemblance to a plasma membrane or to the outer layer of any known gregarine, other protozoan or metazoan. Sub-cellular organelles such as mitochondria, nuclei, endoplasmic reticulum and ribosomes were absent. The internal membranes had a tubular sub-structure and occasionally enclosed whole B-cells, sloughed from the HP tubule epithelium. These internal membranes were shown to arise from transformed microvilli that peeled away from HP tubule epithelial cells and then aggregated in the tubule lumen. Stripped of microvilli, the originating cells underwent lysis. By contrast, B-cells remained intact or were sloughed independently and whole from the tubule epithelium. When sometimes engulfed by the aggregated, transformed microvilli (ATM) they could be misinterpreted as cyst-like structures by light microscopy, contributing to gregarine-like appearance. The cause of ATM is currently unknown, but formation by loss of microvilli and subsequent cell lysis indicate that their formation is a pathological process. If sufficiently severe, they may retard shrimp growth and may predispose shrimp to opportunistic pathogens

  19. White spot syndrome virus induces metabolic changes resembling the warburg effect in shrimp hemocytes in the early stage of infection.

    Science.gov (United States)

    Chen, I-Tung; Aoki, Takashi; Huang, Yun-Tzu; Hirono, Ikuo; Chen, Tsan-Chi; Huang, Jiun-Yan; Chang, Geen-Dong; Lo, Chu-Fang; Wang, Han-Ching

    2011-12-01

    The Warburg effect is an abnormal glycolysis response that is associated with cancer cells. Here we present evidence that metabolic changes resembling the Warburg effect are induced by a nonmammalian virus. When shrimp were infected with white spot syndrome virus (WSSV), changes were induced in several metabolic pathways related to the mitochondria. At the viral genome replication stage (12 h postinfection [hpi]), glucose consumption and plasma lactate concentration were both increased in WSSV-infected shrimp, and the key enzyme of the pentose phosphate pathway, glucose-6-phosphate dehydrogenase (G6PDH), showed increased activity. We also found that at 12 hpi there was no alteration in the ADP/ATP ratio and that oxidative stress was lower than that in uninfected controls. All of these results are characteristic of the Warburg effect as it is present in mammals. There was also a significant decrease in triglyceride concentration starting at 12 hpi. At the late stage of the infection cycle (24 hpi), hemocytes of WSSV-infected shrimp showed several changes associated with cell death. These included the induction of mitochondrial membrane permeabilization (MMP), increased oxidative stress, decreased glucose consumption, and disrupted energy production. A previous study showed that WSSV infection led to upregulation of the voltage-dependent anion channel (VDAC), which is known to be involved in both the Warburg effect and MMP. Here we show that double-stranded RNA (dsRNA) silencing of the VDAC reduces WSSV-induced mortality and virion copy number. For these results, we hypothesize a model depicting the metabolic changes in host cells at the early and late stages of WSSV infection.

  20. The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome.

    Science.gov (United States)

    Bourgeois, P; Bolcato-Bellemin, A L; Danse, J M; Bloch-Zupan, A; Yoshiba, K; Stoetzel, C; Perrin-Schmitt, F

    1998-06-01

    Most targeted gene mutations are recessive and analyses of gene function often focus on homozygous mutant phenotypes. Here we describe parts of the expression pattern of M-twist in the head of developing wild-type mice and present our analysis of the phenotype of heterozygous twist- null animals at around birth and in adults. A number of twist -null heterozygous mice present skull and limb defects and, in addition, we observed other malformations, such as defects in middle ear formation and the xyphoïd process. Our study is of interest to understand bone formation and the role of M-twist during this process, as within the same animal growth of some bones can be accelerated while for others it can be delayed. Moreover, we show here that expressivity of the mouse mutant heterozygous phenotype is dependent on the genetic background. This information might also be helpful for clinicians, since molecular defects affecting one allele of the human H-twist ( TWIST ) gene were identified in patients affected with Saethre-Chotzen syndrome (SCS). Expressivity of this syndrome is variable, although most patients present craniofacial and limb malformations resembling those seen in mutant mice. Thus the mutant mouse twist -null strain might be a useful animal model for SCS. The twist -null mutant mouse model, combined with other mutant mouse strains, might also help in an understanding of the etiology of morphological abnormalities that appear in human patients affected by other syndromes.

  1. A novel acquired cryptic three-way translocation t(2;11;5)(p21.3;q13.5;q23.2) with a submicroscopic deletion at 11p14.3 in an adult with hypereosinophilic syndrome.

    Science.gov (United States)

    Kjeldsen, Eigil

    2015-08-01

    Hypereosinophilic syndrome (HES) is a clinically and pathologically heterogeneous disease entity. It is characterized by persistent eosinophilia and organ damage after excluding other causes. Clonal eosinophilia is distinguished from idiopathic eosinophilia by the presence of histologic, cytogenetic, or molecular evidence of an underlying malignancy. There are two distinct subcategories of clonal eosinophilia: chronic eosinophilic leukemia, not otherwise specified and myeloid/lymphoid neoplasms with eosinophilia and mutations involving platelet-derived growth factor receptor α/β or fibroblast growth factor receptor 1. More than 50% of HES are without knowledge of underlying pathogenic molecular pathways. Here we examined a HES patient by oligo-based aCGH analysis and molecular cytogenetic methods. Examination for the common eosinophilia-related cytogenetic abnormalities involving the genes PDGFRA, PDGFRB, and FGFR1 together with BCR-ABL fusion gene was negative. Cytogenetic analysis and multi-color FISH analysis revealed a novel cryptic three-way translocation t(2;11;5)(p21.3;q13.5;q23.2). By oaCGH analysis we could not find any copy number changes related to the cytogenetic breakpoints but instead detected a 0.9Mb submicroscopic deletion at 11p14.3. The deleted region involved the 5'-upstream sequences and exons 1-4 of the LUZP2 gene, which encodes a leucine zipper protein. Analysis of surrogate germ-line cells revealed a normal result showing that the detected chromosomal aberrations were acquired. This is the first report on a HES patient associated with a novel complex three-way translocation t(2;11;5)(p21.3;q13.5;q23.2) and a submicroscopic deletion in chromosome band 11p14.3. The study also demonstrates the benefits of oligo-based aCGH analysis in detecting hidden disease related chromosomal abnormalities. The present findings provide additional clues to unravel important molecular pathways in HES to obtain the full spectrum of acquired chromosomal and

  2. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

    Directory of Open Access Journals (Sweden)

    Christel Depienne

    2009-02-01

    Full Text Available Dravet syndrome (DS is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular analyses in a large series of patients with DS, 27% of whom were negative for mutations or rearrangements in SCN1A. In order to identify new genes responsible for the disorder in the SCN1A-negative patients, 41 probands were screened for micro-rearrangements with Illumina high-density SNP microarrays. A hemizygous deletion on chromosome Xq22.1, encompassing the PCDH19 gene, was found in one male patient. To confirm that PCDH19 is responsible for a Dravet-like syndrome, we sequenced its coding region in 73 additional SCN1A-negative patients. Nine different point mutations (four missense and five truncating mutations were identified in 11 unrelated female patients. In addition, we demonstrated that the fibroblasts of our male patient were mosaic for the PCDH19 deletion. Patients with PCDH19 and SCN1A mutations had very similar clinical features including the association of early febrile and afebrile seizures, seizures occurring in clusters, developmental and language delays, behavioural disturbances, and cognitive regression. There were, however, slight but constant differences in the evolution of the patients, including fewer polymorphic seizures (in particular rare myoclonic jerks and atypical absences in those with PCDH19 mutations. These results suggest that PCDH19 plays a major role in epileptic encephalopathies, with a clinical spectrum overlapping that of DS. This disorder mainly affects females. The identification of an affected mosaic male strongly supports the hypothesis that cellular interference is the pathogenic mechanism.

  3. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

    Science.gov (United States)

    Depienne, Christel; Bouteiller, Delphine; Keren, Boris; Cheuret, Emmanuel; Poirier, Karine; Trouillard, Oriane; Benyahia, Baya; Quelin, Chloé; Carpentier, Wassila; Julia, Sophie; Afenjar, Alexandra; Gautier, Agnès; Rivier, François; Meyer, Sophie; Berquin, Patrick; Hélias, Marie; Py, Isabelle; Rivera, Serge; Bahi-Buisson, Nadia; Gourfinkel-An, Isabelle; Cazeneuve, Cécile; Ruberg, Merle; Brice, Alexis; Nabbout, Rima; Leguern, Eric

    2009-02-01

    Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular analyses in a large series of patients with DS, 27% of whom were negative for mutations or rearrangements in SCN1A. In order to identify new genes responsible for the disorder in the SCN1A-negative patients, 41 probands were screened for micro-rearrangements with Illumina high-density SNP microarrays. A hemizygous deletion on chromosome Xq22.1, encompassing the PCDH19 gene, was found in one male patient. To confirm that PCDH19 is responsible for a Dravet-like syndrome, we sequenced its coding region in 73 additional SCN1A-negative patients. Nine different point mutations (four missense and five truncating mutations) were identified in 11 unrelated female patients. In addition, we demonstrated that the fibroblasts of our male patient were mosaic for the PCDH19 deletion. Patients with PCDH19 and SCN1A mutations had very similar clinical features including the association of early febrile and afebrile seizures, seizures occurring in clusters, developmental and language delays, behavioural disturbances, and cognitive regression. There were, however, slight but constant differences in the evolution of the patients, including fewer polymorphic seizures (in particular rare myoclonic jerks and atypical absences) in those with PCDH19 mutations. These results suggest that PCDH19 plays a major role in epileptic encephalopathies, with a clinical spectrum overlapping that of DS. This disorder mainly affects females. The identification of an affected mosaic male strongly supports the hypothesis that cellular interference is the pathogenic mechanism.

  4. Mazabraud's Syndrome Coexisting with a Uterine Tumor Resembling an Ovarian Sex Cord Tumor (UTROSCT): a Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Calisir, Cuneyt; Inan, Ulukan; Yavas, Ulas Savas; Isiksoy, Serap; Kaya, Tamer [Eskisehir Osmangazi University, Eskiseh (Korea, Republic of)

    2007-10-15

    Intramuscular myxoma is a relatively uncommon benign soft tissue tumor. Its association with fibrous dysplasia of bone represents a rare syndrome described by Mazabraud and Girard in 1957. The relationship between fibrous dysplasia and myxoma remains unclear. A common histogenesis has been proposed for both lesions. Wirth et al. has suggested a basic metabolic error of both tissues during the initial growth period, restricted to the region of bone involvement. Myxomas may appear at any age, but have a predilection for older individuals, occurring most commonly during the sixth and seventh decades of life. They are often located in the large muscles of the thigh, shoulder and buttocks. The majority of intramuscular myxomas are solitary. Cross-sectional techniques are essential in the preoperative planning of excision of soft tissue tumors. The ability to evaluate soft tissue myxomas is best accomplished with MR imaging. Myxomas typically demonstrate the following MR features: very sharply defined contour and homogeneous signal intensity. In particular, the lesions are significantly low in signal intensity on T1-weighted images and high in signal intensity on T2-weighted images. In the patient of this case, the MR appearance was in agreement with previously reported cases.

  5. The fungus Trichophyton redellii sp. nov. causes skin infections that resemble white-nose syndrome of hibernating bats

    Science.gov (United States)

    Lorch, Jeffrey M.; Minnis, Andrew M.; Meteyer, Carol U.; Redell, Jennifer A.; White, J. Paul; Kaarakka, Heather M.; Muller, Laura K.; Lindner, David L.; Verant, Michelle L.; Shearn-Bochsler, Valerie I.; Blehert, David S.

    2014-01-01

    Before the discovery of white-nose syndrome (WNS), a fungal disease caused by Pseudogymnoascus destructans, there were no reports of fungal skin infections in bats during hibernation. In 2011, bats with grossly visible fungal skin infections similar in appearance to WNS were reported from multiple sites in Wisconsin, USA, a state outside the known range of P. destructans and WNS at that time. Tape impressions or swab samples were collected from affected areas of skin from bats with these fungal infections in 2012 and analyzed by microscopy, culture, or direct DNA amplification and sequencing of the fungal internal transcribed spacer region (ITS). A psychrophilic species ofTrichophyton was isolated in culture, detected by direct DNA amplification and sequencing, and observed on tape impressions. Deoxyribonucleic acid indicative of the same fungus was also detected on three of five bat carcasses collected in 2011 and 2012 from Wisconsin, Indiana, and Texas, USA. Superficial fungal skin infections caused by Trichophyton sp. were observed in histopathology for all three bats. Sequencing of the ITS of Trichophyton sp., along with its inability to grow at 25 C, indicated that it represented a previously unknown species, described herein as Trichophyton redellii sp. nov. Genetic diversity present within T. redellii suggests it is native to North America but that it had been overlooked before enhanced efforts to study fungi associated with bats in response to the emergence of WNS.

  6. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.

    Science.gov (United States)

    Bicknell, Louise S; Walker, Sarah; Klingseisen, Anna; Stiff, Tom; Leitch, Andrea; Kerzendorfer, Claudia; Martin, Carol-Anne; Yeyati, Patricia; Al Sanna, Nouriya; Bober, Michael; Johnson, Diana; Wise, Carol; Jackson, Andrew P; O'Driscoll, Mark; Jeggo, Penny A

    2011-02-27

    Studies into disorders of extreme growth failure (for example, Seckel syndrome and Majewski osteodysplastic primordial dwarfism type II) have implicated fundamental cellular processes of DNA damage response signaling and centrosome function in the regulation of human growth. Here we report that mutations in ORC1, encoding a subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. We establish that these mutations disrupt known ORC1 functions including pre-replicative complex formation and origin activation. ORC1 deficiency perturbs S-phase entry and S-phase progression. Additionally, we show that Orc1 depletion in zebrafish is sufficient to markedly reduce body size during rapid embryonic growth. Our data suggest a model in which ORC1 mutations impair replication licensing, slowing cell cycle progression and consequently impeding growth during development, particularly at times of rapid proliferation. These findings establish a novel mechanism for the pathogenesis of microcephalic dwarfism and show a surprising but important developmental impact of impaired origin licensing.

  7. A Pyloric Gland-Phenotype Ovarian Mucinous Tumor Resembling Lobular Endocervical Glandular Hyperplasia in a Patient with Peutz-Jeghers Syndrome.

    Science.gov (United States)

    Kim, Eun Na; Kim, Gu-Hwan; Kim, Jiyoon; Park, In Ah; Shin, Jin Ho; Chai, Yun; Kim, Kyu-Rae

    2017-03-01

    We describe an ovarian mucinous neoplasm that histologically resembles lobular endocervical glandular hyperplasia (LEGH) containing pyloric gland type mucin in a patient with Peutz-Jeghers syndrome (PJS). Although ovarian mucinous tumors rarely occur in PJS patients, their pyloric gland phenotype has not been clearly determined. The histopathologic features of the ovarian mucinous tumor were reminiscent of LEGH. The cytoplasmic mucin was stained with periodic acid-Schiff reaction after diastase treatment but was negative for Alcian blue pH 2.5, suggesting the presence of neutral mucin. Immunohistochemically, the epithelium expressed various gastric markers, including MUC6, HIK1083, and carbonic anhydrase-IX. Multiple ligation-dependent probe amplification detected a germline heterozygous deletion mutation at exons 1-7 of the STK11 gene (c.1-?_920+?del) in peripheral blood leukocytes and mosaic loss of heterozygosity in ovarian tumor tissue. Considering that LEGH and/or gastric-type cervical adenocarcinoma can be found in patients with PJS carrying germline and/or somatic STK11 mutations, our case indicates that STK11 mutations have an important role in the proliferation of pyloric-phenotype mucinous epithelium at various anatomical locations.

  8. Facial resemblance enhances trust.

    Science.gov (United States)

    DeBruine, Lisa M

    2002-07-07

    Organisms are expected to be sensitive to cues of genetic relatedness when making decisions about social behaviour. Relatedness can be assessed in several ways, one of which is phenotype matching: the assessment of similarity between others' traits and either one's own traits or those of known relatives. One candidate cue of relatedness in humans is facial resemblance. Here, I report the effects of an experimental manipulation of facial resemblance in a two-person sequential trust game. Subjects were shown faces of ostensible playing partners manipulated to resemble either themselves or an unknown person. Resemblance to the subject's own face raised the incidence of trusting a partner, but had no effect on the incidence of selfish betrayals of the partner's trust. Control subjects playing with identical pictures failed to show such an effect. In a second experiment, resemblance of the playing partner to a familiar (famous) person had no effect on either trusting or betrayals of trust.

  9. Childhood idiopathic hypereosinophilic syndrome: report of a case.

    Science.gov (United States)

    Kao, Chun-Chieh; Ou, Liang-Shiou; Lin, Shy-Jae; Huang, Jing-Long

    2002-06-01

    We described a 15-year-old girl who presented with persistent fever, bilateral flank pain, and worsening dyspnea. The peripheral blood cell count showed remarkable eosinophilia at the time of admission. Severe pleural effusion with eosinophilic Infiltrations as well as pericardial effusion were noted thereafter. Bone marrow examination disclosed markedly increased eosinophils. Bilateral ectasia of the renal pelvis was found in an ultrasonographic study of the kidneys. Spiking fever and progressive shortness of breath persisted despite treatment with empiric antibiotics for infection. Based on the clinical course and histological findings, a tentative diagnosis of idiopathic HES was made. After treatment with oral prednisolone daily (1 mg/kg/day) for one week, there was a rapid improvement in her clinical condition. She was discharged a few days later and the steroids were withdrawn gradually when she was asymptomatic. The absolute eosinophil count (AEC) was monitored during follow-up. At 3 weeks, the AEC had fallen from 8,060/mm3 to 4,792/mm3 and it further fell to 1,591/mm3 at 5 months, and to 855/mm3 at 8 months during follow-up. There is no evidence of any other organ involvement until now. The clinical manifestations, diagnosis and management of idiopathic HES in children are also reviewed.

  10. New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV.

    Science.gov (United States)

    Jukkola, A; Kauppila, S; Risteli, L; Vuopala, K; Risteli, J; Leisti, J; Pajunen, L

    1998-06-01

    We describe the clinical findings and biochemical features of a male child suffering from a so far undescribed lethal connective tissue disorder characterised by extreme hypermobility of the joints, lax skin, cataracts, severe growth retardation, and insufficient production of type I and type III procollagens. His features are compared with Ehlers-Danlos type IV, De Barsy syndrome, and geroderma osteodysplastica, as these disorders show some symptoms and signs shared with our patient. The child died because of failure of the connective tissue structures joining the skull and the spine, leading to progressive spinal stenosis. The aortic valve was translucent and insufficient. The clinical symptoms and signs, together with histological findings, suggested a collagen defect. Studies on both skin fibroblast cultures and the patient's serum showed reduced synthesis of collagen types I and III at the protein and RNA levels. The sizes of the mRNAs and newly synthesised proteins were normal, excluding gross structural abnormalities. These findings are not in accordance with any other collagen defect characterised so far.

  11. Chromoblastomycosis resembling sporotrichosis

    Directory of Open Access Journals (Sweden)

    Nair Pradeep

    1993-01-01

    Full Text Available A 21-year old man presented with multiple noduloulcerative lesions in a linear form resembling sporotrichosis. Histopathology showed the fungal bodies suggestive of chromoblastomycosis and the patient responded to potassium iodide therapy.

  12. 以胃肠道表现为主的特发性嗜酸粒细胞增多综合征9例报告及文献复习%Idiopathic hypereosinophilic syndrome with gastrointestinal manifestations:A report of 9 cases and literature review

    Institute of Scientific and Technical Information of China (English)

    周长丽; 程洪晶; 白焕焕; 白蔷薇; 孙逊; 孟祥伟

    2016-01-01

    Objective:To investigate the clinical characteristics of idiopathic hypereosinophilic syndrome (IHES) with gastrointestinal manifestations,and to improve the level of diagnosis and treatment of IHES. Methods:The clinical materials, process of diagnosis and treatment and prognosis of 9 patients diagnosed as IHES with gastrointestinal manifestations were retrospectively analyzed. Results:The average age of 9 patients was (22.66± 12.86)years old,and the ratio of male and female was about 1.25∶ 1. The main clinical manifestations included abdominal pain,diarrhea and abdominal distension.The eosinophil percentages in peripheral blood and bone marrow of the patients were (42.66 ± 19.88 )% and (39.33 + 15.99 )%, respectively.The ascites exudate cytology examination showed eosinophil infiltrated.The results of gastroscope or colonoscope showed mucosal hyperemia and edema,scattered bleeding spots, and dark red granular hyperplasia; the colon was affected frecuently.The histological biopsy confirmed that the mucosal was infiltrated by eosinophils.The abdominal CT of 6 patients showed that the walls of stomach or bowel were thickened.The abdominal symptoms disappeared,and the ascites was absorpted in 9 patients after the treatment of glucocorticoid.After 2 years of follow up,2 patients had relapse, others had no recurrence.Conclusion:Performing the routine diagnosis and treatment of gastrointestinal diseases, the clinicians should consider the possibility of IHES in order to avoid the misdiagnosis and delayed treatment. When IHES is diagnosed,steroid treatment should be performed in preference.%目的:探讨以胃肠道表现为主的特发性嗜酸粒细胞增多综合征(IHES)的临床特点,提高该病的诊疗水平。方法:回顾性分析符合 IHES 诊断标准的9例以胃肠道表现为主的 IHES 患者临床资料、诊治经过及预后。结果:9例患者平均年龄(22.66±12.86)岁,男女比例1.25∶1,以腹痛、腹泻和

  13. A Novel Rasopathy Caused by Recurrent De Novo Missense Mutations In PPP1CB Closely Resembles Noonan Syndrome with Loose Anagen Hair

    Science.gov (United States)

    Gripp, Karen W.; Aldinger, Kimberly A.; Bennett, James T.; Baker, Laura; Tusi, Jessica; Powell-Hamilton, Nina; Stabley, Deborah; Sol-Church, Katia; Timms, Andrew E.; Dobyns, William B.

    2016-01-01

    Noonan syndrome is a rasopathy caused by mutations in multiple genes encoding components of the RAS/MAPK pathway. Despite its variable phenotype, limited genotype-phenotype correlations exist. Noonan syndrome with loose anagen hair (NS-LAH) is characterized by its distinctive hair anomalies, developmental differences and structural brain abnormalities and is caused by a single recurrent missense SHOC2 mutation. SHOC2 forms a complex with protein phosphatase 1 (PP1C). Protein phosphatases counterbalance kinases and control activation of signaling proteins, such as the mitogen activated protein kinases of the RAS/MAPK pathway. Here we report four patients with de novo missense mutations in protein phosphatase 1 catalytic subunit beta (PPP1CB), sharing a recognizable phenotype. Three individuals had the recurrent PPP1CB c.146G>C, p.Pro49Arg mutation, the fourth had a c.166G>C, p.Ala56Pro change. All had relative or absolute macrocephaly, low-set and posteriorly angulated ears and developmental delay. Slow growing and/or sparse hair and/or an unruly hair texture was present in all. Three individuals had feeding difficulties requiring feeding tubes. One of two males had cryptorchidism, another had pectus excavatum. Short stature was present in three. A female with the recurrent mutation had a Dandy-Walker malformation and optic nerve hypoplasia. Mild ventriculomegaly occurred in all, cerebellar tonsillar ectopia was seen in two and progressed to Chiari 1 malformation in one individual. Based on the combination of phenotypic findings and PPP1CB’s effect on RAF dephosphorylation within the RAS/MAPK pathway, this novel condition can be considered a rasopathy, most similar to NS-LAH. Collectively, these mutations meet the standardized criteria for pathogenicity. PMID:27264673

  14. Stars resembling the Sun

    Science.gov (United States)

    Cayrel de Strobel, G.

    stars tightly neighbouring the Sun in mass, chemical composition and state of evolution. The surprising result is that the stars occupy in this HR Diagram a rather extended region around the Sun, many of them seem more evolved and older than the Sun, and only 4 of the evolved stars seem younger. The age of some stars in the sample is also discussed in terms of chromospheric activity and Li-content. Our conclusion is much the same as that contained in previous papers we have written on the subject: in spite of a much larger number of stars, we have not been able to nominate a single star of the sample for a ``perfect good solar twin''. Another aim in beginning, 25 years ago, this search for solar analogues, was to have ready a bunch of stars resembling the Sun and analysed spectroscopically in detail, in order that, when planets hunters of solar type stars, finally would have found such a specimen, we would have been able to immediately compare the physical parameters of this star to those of the Sun. We have been lucky enough: one of the good solar analogues we present herewith, is 51 Pegasi (HD 217014) which, according to the very recent observations by Mayor and Queloz (1995), has a planet orbiting around it. And what is more: two other stars possessing planets: 47 Ursae Majoris (HD 95128) and 70 Virginis (HD 117176), have just been discovered by Marcy and Butler (187th Meeting of the AAS, January 1996). One of them, 47 Ursae Majoris, is also included in the list of photometric solar analogues. The other star, 70 Virginis, has only been included after the ``Planets News'', because the colour index (B-V) of this star is slightly higher than the prescribted limit of the selection, (B-V = 0.71, instead, 0.69). It would have been a pity to leave the third '' planet star out of the competition.

  15. Seroprevalence of toxocariasis in hypereosinophilic individuals in Ahwaz, south-western Iran.

    Science.gov (United States)

    Maraghi, S; Rafiei, A; Hajihossein, R; Sadjjadi, S M

    2012-06-01

    Eosinophilia in human peripheral blood is caused by different agents, including toxocariasis. The present study aimed to evaluate the prevalence of toxocariasis in hypereosinophilic individuals in the city of Ahwaz, located in south-western Iran, using enzyme-linked immunosorbent assay and Western blot techniques. Serum samples were examined from 100 individuals with peripheral blood eosinophilia and also from another 100 individuals without eosinophilia as the control group. In hypereosinophilic individuals seroprevalence antibodies against Toxocara were found in 19 (19%), of whom 12 (63.15%) were female and 7 (36.85%) were male. Positive sera were subsequently confirmed by Western blot. All of the observed bands ranged from 24 to 100 kDa. Antibodies against Toxocara were found in 1% of the control group, but were not confirmed by Western blot. The results showed significant differences between the frequency of infection within age and gender (P toxocariasis as a hygienic problem among hypereosinophilic individuals in this area. It is, therefore, necessary to examine these individuals for toxocariasis.

  16. Behandling af ideopatisk hypereosinofilt syndrom med imatinib

    DEFF Research Database (Denmark)

    Sørensen, Anne Louise; Larsen, Herdis

    2008-01-01

    We here report a case of idiopathic hypereosinophilic syndrome with prompt response to treatment with imatinib. The patient presented with chest pain, myalgias, fatigue and weakness. Blood tests and bone marrow examination revealed striking eosinophilia. Clonal or reactive disorders were excluded...

  17. A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV Resembling Human Warburg Micro Syndrome 1 (WARBM1

    Directory of Open Access Journals (Sweden)

    Michaela Wiedmer

    2016-02-01

    Full Text Available We observed a hereditary phenotype in Alaskan Huskies that was characterized by polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV. The affected dogs developed a progressive severe ataxia, which led to euthanasia between 8 and 16 months of age. The pedigrees were consistent with a monogenic autosomal recessive inheritance. We localized the causative genetic defect to a 4 Mb interval on chromosome 19 by a combined linkage and homozygosity mapping approach. Whole genome sequencing of one affected dog, an obligate carrier, and an unrelated control revealed a 218-bp SINE insertion into exon 7 of the RAB3GAP1 gene. The SINE insertion was perfectly associated with the disease phenotype in a cohort of 43 Alaskan Huskies, and it was absent from 541 control dogs of diverse other breeds. The SINE insertion induced aberrant splicing and led to a transcript with a greatly altered exon 7. RAB3GAP1 loss-of-function variants in humans cause Warburg Micro Syndrome 1 (WARBM1, which is characterized by additional developmental defects compared to canine POANV, whereas Rab3gap1-deficient mice have a much milder phenotype than either humans or dogs. Thus, the RAB3GAP1 mutant Alaskan Huskies provide an interesting intermediate phenotype that may help to better understand the function of RAB3GAP1 in development. Furthermore, the identification of the presumed causative genetic variant will enable genetic testing to avoid the nonintentional breeding of affected dogs.

  18. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.

    Science.gov (United States)

    Boyle, Martine Isabel; Jespersgaard, Cathrine; Nazaryan, Lusine; Ravn, Kirstine; Brøndum-Nielsen, Karen; Bisgaard, Anne-Marie; Tümer, Zeynep

    2015-11-01

    Deletions within 11q12.3-11q13.1 are very rare and to date only two cases have been described in the literature. In this study we describe a 23-year-old male patient with intellectual disability, behavioral problems, dysmorphic features, dysphagia, gastroesophageal reflux and skeletal abnormalities. Cornelia de Lange syndrome (CdLS, OMIM #122470; #300590; #610759; #300882; #614701) was suggested as a differential diagnosis in childhood although he lacked some of the features typical for this disorder. He does not have a mutation in any of the five known CdLS genes (NIPBL, SMC1A, SMC3, HDAC8, RAD21), but a 1.6Mb deletion at chromosome region 11q12.3-11q13.1 was detected by chromosome microarray. The deletion contains several genes including PPP2R5B, which has been associated with intellectual disability and overgrowth; NRXN2, which has been associated with intellectual disability and autism spectrum disorder; and CDCA5, which is part of the cohesin pathway, as are all the five known CdLS genes. It is therefore possible that deletion of CDCA5 may account for some of the CdLS like features of the present case. Copyright © 2015 Elsevier B.V. All rights reserved.

  19. Does facial resemblance enhance cooperation?

    Directory of Open Access Journals (Sweden)

    Trang Giang

    Full Text Available Facial self-resemblance has been proposed to serve as a kinship cue that facilitates cooperation between kin. In the present study, facial resemblance was manipulated by morphing stimulus faces with the participants' own faces or control faces (resulting in self-resemblant or other-resemblant composite faces. A norming study showed that the perceived degree of kinship was higher for the participants and the self-resemblant composite faces than for actual first-degree relatives. Effects of facial self-resemblance on trust and cooperation were tested in a paradigm that has proven to be sensitive to facial trustworthiness, facial likability, and facial expression. First, participants played a cooperation game in which the composite faces were shown. Then, likability ratings were assessed. In a source memory test, participants were required to identify old and new faces, and were asked to remember whether the faces belonged to cooperators or cheaters in the cooperation game. Old-new recognition was enhanced for self-resemblant faces in comparison to other-resemblant faces. However, facial self-resemblance had no effects on the degree of cooperation in the cooperation game, on the emotional evaluation of the faces as reflected in the likability judgments, and on the expectation that a face belonged to a cooperator rather than to a cheater. Therefore, the present results are clearly inconsistent with the assumption of an evolved kin recognition module built into the human face recognition system.

  20. Lichenoid Sarcoidosis Resembling Lichen Scrofulosorum

    OpenAIRE

    Thami Gurvinder P; Kanwar Amrinder J

    1998-01-01

    An old man with lichenoid popular lesions, dyspnoea and bilateral hilar lymphadenopathy resembling lichen scrofulosorum diagnosed as lichenoid sarcofulosorum and therapeutic response to corticosteroids is discussed.

  1. A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome.

    Science.gov (United States)

    Takahashi, Yumi; Hosoki, Kana; Matsushita, Masafumi; Funatsuka, Makoto; Saito, Kayoko; Kanazawa, Hiroshi; Goto, Yu-Ichi; Saitoh, Shinji

    2011-12-01

    SLC9A6 mutations have been reported in families in whom X-linked mental retardation (XMR) mimics Angelman syndrome (AS). However, the relative importance of SLC9A6 mutations in patients with an AS-like phenotype or XMR has not been fully investigated. Here, the involvement of SLC9A6 mutations in 22 males initially suspected to have AS but found on genetic testing not to have AS (AS-like cohort), and 104 male patients with XMR (XMR cohort), was investigated. A novel SLC9A6 mutation (c.441delG, p.S147fs) was identified in one patient in the AS-like cohort, but no mutation was identified in XMR cohort, suggesting mutations in SLC9A6 are not a major cause of the AS-like phenotype or XMR. The patient with the SLC9A6 mutation showed the typical AS phenotype, further demonstrating the similarity between patients with AS and those with SLC9A6 mutations. To clarify the effect of the SLC9A6 mutation, we performed RT-PCR and Western blot analysis on lymphoblastoid cells from the patient. Expression of the mutated transcript was significantly reduced, but was restored by cycloheximide treatment, indicating the presence of nonsense mediated mRNA decay. Western blot analysis demonstrated absence of the normal NHE6 protein encoded for by SLC9A6. Taken together, these findings indicate a loss-of-function mutation in SLC9A6 caused the phenotype in our patient. Copyright © 2011 Wiley-Liss, Inc.

  2. Circulating Human Eosinophils Share a Similar Transcriptional Profile in Asthma and Other Hypereosinophilic Disorders

    Science.gov (United States)

    Barnig, Cindy; Dembélé, Doulaye; Paul, Nicodème; Poirot, Anh; Uring-Lambert, Béatrice; Georgel, Philippe; de Blay, Fréderic; Bahram, Seiamak

    2015-01-01

    Eosinophils are leukocytes that are released into the peripheral blood in a phenotypically mature state and are capable of being recruited into tissues in response to appropriate stimuli. Eosinophils, traditionally considered cytotoxic effector cells, are leukocytes recruited into the airways of asthma patients where they are believed to contribute to the development of many features of the disease. This perception, however, has been challenged by recent findings suggesting that eosinophils have also immunomodulatory functions and may be involved in tissue homeostasis and wound healing. Here we describe a transcriptome-based approach–in a limited number of patients and controls—to investigate the activation state of circulating human eosinophils isolated by flow cytometry. We provide an overview of the global expression pattern in eosinophils in various relevant conditions, e.g., eosinophilic asthma, hypereosinophilic dermatological diseases, parasitosis and pulmonary aspergillosis. Compared to healthy subjects, circulating eosinophils isolated from asthma patients differed in their gene expression profile which is marked by downregulation of transcripts involved in antigen presentation, pathogen recognition and mucosal innate immunity, whereas up-regulated genes were involved in response to non-specific stimulation, wounding and maintenance of homeostasis. Eosinophils from other hypereosinophilic disorders displayed a very similar transcriptional profile. Taken together, these observations seem to indicate that eosinophils exhibit non-specific immunomodulatory functions important for tissue repair and homeostasis and suggest new roles for these cells in asthma immunobiology. PMID:26524763

  3. Excess of nerve growth factor in the ovary causes a polycystic ovary-like syndrome in mice, which closely resembles both reproductive and metabolic aspects of the human syndrome.

    Science.gov (United States)

    Wilson, Jenny L; Chen, Weiyi; Dissen, Gregory A; Ojeda, Sergio R; Cowley, Michael A; Garcia-Rudaz, Cecilia; Enriori, Pablo J

    2014-11-01

    Polycystic ovarian syndrome (PCOS), the most common female endocrine disorder of unknown etiology, is characterized by reproductive abnormalities and associated metabolic conditions comprising insulin resistance, type 2 diabetes mellitus, and dyslipidemia. We previously reported that transgenic overexpression of nerve growth factor (NGF), a marker of sympathetic hyperactivity, directed to the ovary by the mouse 17α-hydroxylase/C17-20 lyase promoter (17NF mice), results in ovarian abnormalities similar to those seen in PCOS women. To investigate whether ovarian overproduction of NGF also induces common metabolic alterations of PCOS, we assessed glucose homeostasis by glucose tolerance test, plasma insulin levels, and body composition by dual-energy x-ray absorptiometry scan in young female 17NF mice and wild-type mice. 17NF mice exhibited increased body weight and alterations in body fat distribution with a greater accumulation of visceral fat compared with sc fat (P NGF in the ovary may suffice to cause both reproductive and metabolic alterations characteristic of PCOS and support the hypothesis that sympathetic hyperactivity may contribute to the development and/or progression of PCOS.

  4. An experimental renal acidification defect in patients with hereditary fructose intolerance. II. Its distinction from classic renal tubular acidosis; its resemblance to the renal acidification defect associated with the Fanconi syndrome of children with cystinosis.

    Science.gov (United States)

    Morris, R C

    1968-07-01

    In adult patients with hereditary fructose intolerance (HFI) fructose induces a renal acidification defect characterized by (a) a 20-30% reduction in tubular reabsorption of bicarbonate (T HCO(3) (-)) at plasma bicarbonate concentrations ranging from 21-31 mEq/liter, (b) a maximal tubular reabsorption of bicarbonate (Tm HCO(3) (-)) of approximately 1.9 mEq/100 ml of glomerular filtrate, (c) disappearance of bicarbonaturia at plasma bicarbonate concentrations less than 15 mEq/liter, and (d) during moderately severe degrees of acidosis, a sustained capacity to maintain urinary pH at normal minima and to excrete acid at normal rates. In physiologic distinction from this defect, the renal acidification defect of patients with classic renal tubular acidosis is characterized by (a) just less than complete tubular reabsorption of bicarbonate at plasma bicarbonate concentrations of 26 mEq/liter or less, (b) a normal Tm HCO(3) (-) of approximately 2.8 mEq/100 ml of glomerular filtrate, and (c) during acidosis of an even severe degree, a quantitatively trivial bicarbonaturia, as well as (d) a urinary pH of greater than 6. That the fructose-induced renal acidification defect involves a reduced H(+) secretory capacity of the proximal nephron is supported by the magnitude of the reduction in T HCO(3) (-) (20-30%) and the simultaneous occurrence and the persistence throughout administration of fructose of impaired tubular reabsorption of phosphate, alpha amino nitrogen and uric acid.A reduced H(+) secretory capacity of the proximal nephron also appears operative in two unrelated children with hyperchloremic acidosis, Fanconi's syndrome, and cystinosis. In both, T HCO(3) (-) was reduced 20-30% at plasma bicarbonate concentrations ranging from 20-30 mEq/liter. The bicarbonaturia disappeared at plasma bicarbonate concentrations ranging from 15-18 mEq/liter, and during moderate degrees of acidosis, urinary pH decreased to less than 6, and the excretion rate of acid was normal.

  5. Multiple ureterolithiasis resembling steinstrasse: An unusual presentation

    OpenAIRE

    Praveen Kumar Pandey; Suruchi Shukla; Anup Kumar Kundu; Pramod Kumar Sharma; Mukesh Kumar Vijay

    2014-01-01

    Steinstrasse or “stone street” is an expected complication after extracorporeal shock wave lithotripsy in patients with high stone burden. However, there are published reports of multiple ureterolithiasis resembling steinstrasse in patients with distal renal tubular acidosis. Here we report an uncommon case of a 60-year-old woman who presented with right renal calculi. Her right ureter was studded with multiple calculi up to the vesicoureteric junction. The affected right kidney was nonfuncti...

  6. Multiple ureterolithiasis resembling steinstrasse: An unusual presentation

    Directory of Open Access Journals (Sweden)

    Praveen Kumar Pandey

    2014-12-01

    Full Text Available Steinstrasse or “stone street” is an expected complication after extracorporeal shock wave lithotripsy in patients with high stone burden. However, there are published reports of multiple ureterolithiasis resembling steinstrasse in patients with distal renal tubular acidosis. Here we report an uncommon case of a 60-year-old woman who presented with right renal calculi. Her right ureter was studded with multiple calculi up to the vesicoureteric junction. The affected right kidney was nonfunctional and was managed by nephroureterectomy.

  7. Genetic and phenotypic characterization of the lymphocytic variant of the Hypereosinophilic Syndrome : a model of T lymphomagenesis

    OpenAIRE

    Sibille, Catherine

    2010-01-01

    L-HES is a rare disease characterized by symptoms linked with the persistence and proliferation of a CD4+ T-cell clone producing cytokines that induce polyclonal hypereosinophilia. This disease shares several characteristics with allergic diseases (allergic rhinitis, asthma, etc…), that exhibit hypereosinophilia driven by allergen specific CD4+ Th2 cells. The CD3-CD4+ T-cell clones detected in L-HES patients however are not directed to a specific antigen, thereby excluding the possibility o...

  8. Churg-Strauss vasculitis and idiopathic hypereosinophyl syndrome: role of molecular biology in the differential diagnosis of hypereosinophyl syndrome

    Directory of Open Access Journals (Sweden)

    A. d'Ascanio

    2011-09-01

    Full Text Available Objective: Hypereosinophilic syndromes are a heterogeneous group of uncommon disorders characterized by the presence of marked peripheral blood eosinophilia, tissue eosinophilia, or both, resulting in a wide variety of clinical manifestations, often without an identifiable cause. Churg-Strauss syndrome is a systemic vasculitis characterized by prominent peripheral eosinophilia, asthma and systemic involvement. The presence of mild to severe eosinophilia and systemic involvement raise the search of many trigger factor that need to be ruled out. Distinguishing CSS from idiopathic hypereosinophilic syndrome may be particularly challenging, especially in ANCA negative patients. Methods: The aim of the present study was to present a small case series of patients referred to a Rheumatology Unit for mild to severe eosinophilia and signs and symptoms of systemic involvement and to outline the clinical significance of molecular biology in the work-up of hypereosinophilia. Results: Eleven patients with moderate to severe peripheral eosinophylia, were referred to our Unit from 1996 to 2007. Female to male ratio was 7/4, mean age 40.54 (range 22-75. Three out of eleven patients resulted positive for molecular biology. The diagnosis of idiopathic hypereosinophylia was confirmed in one out of three on the basis of the clinical picture and bone marrow biopsy. Conclusions: Molecular biology may be useful in the screening and in the follow-up of a new hypereosinophylic patient.

  9. Pareidolia in Neuroendocrinology: A Pituitary Macroadenoma Resembling "Big Bird".

    Science.gov (United States)

    de Herder, Wouter W

    2016-04-01

    The MRI picture of a pituitary macroadenoma with supra- and perisellar expansion resembled a famous character from a children's television series demonstrating that pareidolia is also observed in neuro-endocrinology and -radiology.

  10. Eosinophilic Enteritis with Ascites in a Patient with Overlap Syndrome

    Directory of Open Access Journals (Sweden)

    Spyros Aslanidis

    2009-01-01

    Full Text Available Gastrointestinal involvement is frequent in patients with systemic lupus erythematosus (SLE. Eosinophilic gastroenteritis, however, has only rarely been described in rheumatological conditions, despite its reported connection to autoimmune diseases, such as hypereosinophilic syndrome, vasculitides, and systemic mastoidosis. It presents typically with abdominal pain and diarrhea and is only exceptionally associated with ascites. Diagnosis can be problematic, as several other clinical conditions (malignancies, infection/tuberculosis, and inflammatory bowel diseases have to be ruled out. It is basically a nonsurgical disease, with excellent recovery on conservative treatment. We report the rare case of a young woman with overlap syndrome who presented with abdominal pain and ascites. The diagnosis of eosinophilic enteritis was made based on clinical, radiological, and laboratory criteria. The patient was treated with corticosteroids with excellent response.

  11. The Resemblances Between Wuthering Height and Jane Eyre

    Institute of Scientific and Technical Information of China (English)

    Li yichun

    2008-01-01

    Large difference in style from appearance, "Jane Evre"and "Wuthering Heights" have greet resemblance in reality. As the principal expressions: The protagonist's pursuing for individual value and vindicating of personal dignity; The writer's pursuit of an ideal love; The works" creative method of illusion and symbolism.

  12. The challenge of unravelling family resemblance related to illness behaviour.

    NARCIS (Netherlands)

    Cardol, M.; Groenewegen, P.P.; Spreeuwenberg, P.; Dijk, L. van; Bosch, W. van den; Bakker, D.H. de

    2005-01-01

    Background: Efforts to promote health or prevent disease may conflict with patients’ habits at home. Irrespective of the national setting, families are important social contexts in which illness occurs and resolves. Family members resemble each other in their illness behaviour, even across generatio

  13. Allergic Contact Dermatitis to Benzoyl Peroxide Resembling Impetigo.

    Science.gov (United States)

    Kim, Changhyun; Craiglow, Brittany G; Watsky, Kalman L; Antaya, Richard J

    2015-01-01

    A 17-year-old boy presented with recurring severe dermatitis of the face of 5-months duration that resembled impetigo. He had been treated with several courses of antibiotics without improvement. Biopsy showed changes consistent with allergic contact dermatitis and patch testing later revealed sensitization to benzoyl peroxide, which the patient had been using for the treatment of acne vulgaris.

  14. RESEMBLANCE OF INDIRECTNESS IN POLITENESS OF EFL LEARNERS’ REQUEST REALIZATIONS

    Directory of Open Access Journals (Sweden)

    Indawan Syahri

    2013-07-01

    Full Text Available Abstract: Politeness principles are universally utilized by the speakers of any language when realizing various speech acts. However, the speakers of particular languages relatively apply politeness due to the cultural norms embedded. The present study attempts to delineate how the Indonesian learners of English (ILE apply the politeness principles in request realizations. Specifically it devotes to the types of politeness strategies applied and resemblance of the indirectness in politeness strategies in requesting acts. The FTAs and indirectness are the theoretical bases used to trace the typologies of both politeness and request strategies. The data werere collected by means of certain elicitation techniques, i.e. DCTs and Role-plays. The analyses werere done through three stages; determining request strategies, politeness strategies, and resemblance of indirectness in politeness. The results show that the indirectness generally is parallel to politeness. Besides, some pragmatic transfers are found in terms of applying native-culture norms in realizing target speech acts.

  15. Resemblance Argument” and Controversies over Mimesis

    Directory of Open Access Journals (Sweden)

    Nives Delija

    2004-06-01

    Full Text Available Contrary to the common interpretation of Platonic art that supports the view that it is ontologically and gnoseologically irrelevant because it is mainly defined by mimetic concept as a mere imitation of the material world, and is therefore banished from the Republic, we will offer some different interpretations. Namely, it is possible to show that mimetic principle is not the reason why Plato condemns art, and that the notion of artistic mimesis in fact stems from the metaphysical notion of mimesis as approximation or gradual resemblance to the paradigm. In this case artistic mimesis achieves higher ontological authenticity and imitates the ideal by means of the sensory. Parmenides’ “resemblance argument” may constitute a serious obstacle for the acceptance of, on the one hand, the idea of the relation of resemblance (homoiotes between Forms and particulars, that is between the paradigm and its image, and on the other hand it may question the idea of approximation in which mimetic principle has metaphysical foundation. However, when Form is seen as a synthetic unity of many things (hen epi pollon, it then represents the right standpoint for the explanation of the phenomena, and it becomes questionable when it is placed on the same level with its exemplars. If the relation of resemblance between the paradigm and its image is determined by the “dynamic”, and not by “symmetric resemblance” in which both parts are on the same level of ontological authenticity, then the view of philosophical mimesis as approximation on which relies artistic mimetic concept is legitimate.

  16. Resemblance operations and conceptual complexity in animal metaphors

    Directory of Open Access Journals (Sweden)

    Aneider Iza Ervitia

    2012-07-01

    Full Text Available For over thirty years cognitive linguists have devoted much effort to the study of metaphors based on the correlation of events in human experience to the detriment of the more traditional notion of resemblance metaphor, which exploits perceived similarities among objects. Grady (1999 draws attention to this problem and calls for a more serious study of the latter type of metaphor. The present paper takes up this challenge on the basis of a small corpus of ‘animal’ metaphors in English, which are essentially based on resemblance. Contrary to previous analyses by cognitive linguists (e.g. Lakoff & Turner 1989, Ruiz de Mendoza Ibáñez, 1998, who claim that such metaphors are based on a single mapping generally involving comparable behavioral attributes, I will argue that we have a more complex situation which involves different patterns of conceptual interaction. In this respect, I have identified cases of (i animal metaphors interacting with high-level (i.e. grammatical metaphors and metonymies, of (ii (situational animal metaphors whose source domains are constructed metonymically (cf. Goossens 1990; Ruiz de Mendoza Ibáñez & Díez Velasco 2002, and of (iii animal metaphors interacting with other metaphors thereby giving rise to metaphoric amalgams (cf. Ruiz de Mendoza Ibáñez & Galera Masegosa 2011.

  17. Ritodrine-induced pustular eruptions distinctly resembling impetigo herpetiformis.

    Science.gov (United States)

    Kuwabara, Yoshimitsu; Sato, Atsuki; Abe, Hiroko; Abe, Sumino; Kawai, Naoki; Takeshita, Toshiyuki

    2011-01-01

    A 27-year-old nulligravida woman without a history of dermatosis was hospitalized for threatened preterm labor at 29 weeks' gestation; therefore, continuous infusion of ritodrine hydrochloride was started. At 31 weeks' gestation, erythematous plaques appeared and spread over the body surface; therefore, a topical steroid preparation was applied. At 32 weeks' gestation, the eruptions developed into irregular annular areas of erythema with multiple pustules accompanied by severe itching, and oral prednisolone treatment was started. Bacterial cultures of the pustules were negative, and a crural cutaneous biopsy revealed Kogoj's spongiform pustules. Based on the clinicopathological findings, the most likely diagnosis was impetigo herpetiformis, which causes cutaneous symptoms closely resembling pustular psoriasis in pregnant females without a history of psoriasis. To rule out ritodrine-induced pustular eruptions, the ritodrine infusion was stopped and treatment with an MgSO(4) preparation was started at 33 weeks' 3 days' gestation; however, the uterine contractions could not be suppressed. Because of the patient's highly edematous, severely painful feet, a cesarean section was performed the same day. Within several days of delivery, the eruptions began to resolve, and no recurrence was observed after treatment with oral prednisolone was stopped 31 days after delivery. On the basis of a positive patch test for ritodrine, we diagnosed pustular drug eruptions caused by ritodrine hydrochloride. Although ritodrine-induced pathognomonic cutaneous eruptions are rare, we would like to emphasize that ritodrine can cause drug-induced pustular eruptions distinctly resembling life-threatening impetigo herpetiformis.

  18. Palmaris brevis spasm syndrome.

    OpenAIRE

    SERRATRICE, G.; Azulay, J.P.; Serratrice, J; Pouget, J

    1995-01-01

    Palmaris brevis spasm syndrome is a rare and benign condition of localised muscular hyperactivity. In five men, the hypothenar eminence underwent spontaneous, irregular, tonic contractions of the palmaris brevis muscle. An EMG showed spontaneous high frequency discharges of normal motor units, without evidence of neuropathy or of nerve compression. This syndrome resembles other restricted muscle hyperactivity syndromes although there are some differences. Curiously, the palmaris brevis muscle...

  19. Episode resembling immune complex disease after cholera vaccination

    OpenAIRE

    Mall, Thomas; Gyr, Klaus

    2017-01-01

    The case of a 25-year-old patient is reported who suffered from a syndrome similar to immune complex disease following cholera revaccination. The clinical picture included fever, muscle, joint and abdominal pain, vomiting, serositis, hepatitis, suspected myocarditis, anaemia and thrombocytopenia. Clinical symptoms subsided spontaneously within two weeks. This case illustrates a hazard of cholera vaccination so far not reported in the literature

  20. Differentiated human stem cells resemble fetal, not adult, β cells.

    Science.gov (United States)

    Hrvatin, Sinisa; O'Donnell, Charles W; Deng, Francis; Millman, Jeffrey R; Pagliuca, Felicia Walton; DiIorio, Philip; Rezania, Alireza; Gifford, David K; Melton, Douglas A

    2014-02-25

    Human pluripotent stem cells (hPSCs) have the potential to generate any human cell type, and one widely recognized goal is to make pancreatic β cells. To this end, comparisons between differentiated cell types produced in vitro and their in vivo counterparts are essential to validate hPSC-derived cells. Genome-wide transcriptional analysis of sorted insulin-expressing (INS(+)) cells derived from three independent hPSC lines, human fetal pancreata, and adult human islets points to two major conclusions: (i) Different hPSC lines produce highly similar INS(+) cells and (ii) hPSC-derived INS(+) (hPSC-INS(+)) cells more closely resemble human fetal β cells than adult β cells. This study provides a direct comparison of transcriptional programs between pure hPSC-INS(+) cells and true β cells and provides a catalog of genes whose manipulation may convert hPSC-INS(+) cells into functional β cells.

  1. PERCEPTUAL RESEMBLANCE OF FACIAL IMAGES: A NEAR SET APPROACH

    Directory of Open Access Journals (Sweden)

    A.MUSTAFI

    Full Text Available In this paper, we introduce a near set approach to image analysis. Near sets result from generalization of rough settheory. One set X is near another set Y to the extent that the description of at least one of the objects in X matches thedescription of at least one of the objects in Y. Near set Evaluation And Recognition (NEAR system is used to measure thedegree of resemblance between facial images. The goal of the NEAR system is to extract perceptual information fromimages using near set theory, which provides a framework for measuring the perceptual nearness of objects. In this work,we have used images from Japanese Female Facial Expression (JAFFE database. The images were first converted intoLocal Binary Patterns (LBP images and then divided into non-overlapping blocks. The degree of nearness of histogramsof all the blocks of one image is measured with the corresponding blocks of another image by using NEAR system

  2. Familial Resemblance in Dietary Intakes of Children, Adolescents, and Parents

    DEFF Research Database (Denmark)

    Bogl, Leonie H.; Silventoinen, Karri; Hebestreit, Antje

    2017-01-01

    children using repeated 24-h dietary recalls, from which the usual energy and food intakes were estimated with the U.S. National Cancer Institute Method. Food items were categorized as healthy or unhealthy based on their sugar, fat, and fiber content. Interclass and intraclass correlations were calculated......Information on familial resemblance is important for the design of effective family-based interventions. We aimed to quantify familial correlations and estimate the proportion of variation attributable to genetic and shared environmental effects (i.e., familiality) for dietary intake variables...... and determine whether they vary by generation, sex, dietary quality, or by the age of the children. The study sample consisted of 1435 families (1007 mothers, 438 fathers, 1035 daughters, and 1080 sons) from the multi-center I.Family study. Dietary intake was assessed in parents and their 2–19 years old...

  3. RESEMBLANCE OPERATIONS AND CONCEPTUAL COMPLEXY IN ANIMAL METAPHORS

    Directory of Open Access Journals (Sweden)

    Aneider Iza Ervitia

    2012-07-01

    Full Text Available

    For over thirty years cognitive linguists have devoted much effort to the study of metaphors based on the correlation of events in human experience to the detriment of the more traditional notion of resemblance metaphor, which exploits perceived similarities among objects. Grady (1999 draws attention to this problem and calls for a more serious study of the latter type of metaphor. The present paper takes up this challenge on the basis of a small corpus of ‘animal’ metaphors in English, which are essentially based on resemblance. Contrary to previous analyses by cognitive linguists (e.g. Lakoff & Turner 1989, Ruiz de Mendoza Ibáñez, 1998, who claim that such metaphors are based on a single mapping generally involving comparable behavioral attributes, I will argue that we have a more complex situation which involves different patterns of conceptual interaction. In this respect, I have identified cases of (i animal metaphors interacting with high-level (i.e. grammatical metaphors and metonymies, of (ii (situational animal metaphors whose source domains are constructed metonymically (cf. Goossens 1990; Ruiz de Mendoza Ibáñez & Díez Velasco 2002, and of (iii animal metaphors interacting with other metaphors thereby giving rise to metaphoric amalgams (cf. Ruiz de Mendoza Ibáñez & Galera Masegosa 2011.

  4. Teebi hypertelorism syndrome: further observations.

    Science.gov (United States)

    Tsukahara, M; Uchida, M; Shinohara, T

    1995-10-23

    A new autosomal dominant syndrome resembling craniofrontonasal syndrome was identified by Teebi [1987: Am J Med Genet 28:581-591]. We report on an additional case of Teebi hypertelorism syndrome. A 6-year-old girl presented with brachycephaly, peculiar facial appearance resembling mild frontonasal "dysplasia", small hands and feet with interdigital webbing. In addition, she had previously undescribed manifestations including ventricular septal defect, lipoma of the occipital area, and hypoplastic left hemisphere of the cerebellum. These seem to expand the phenotype of Teebi hypertelorism syndrome. The proposita's father had mild manifestations of the condition including flat occiput, widow's peak, small ears, bulbous nose, brachydactyly with interdigital webbing, and mild shawl scrotum.

  5. A case of Hypereosinophilic Syndrome Accompanied with Lung Cancer%嗜酸细胞增多性皮炎伴肺癌1例

    Institute of Scientific and Technical Information of China (English)

    宋文婷; 赵广

    2012-01-01

    患者女,60岁,躯干、四肢皮肤干燥、脱屑伴瘙痒1年余,加重1月.近5月出现咳嗽、咳痰,加重伴胸闷、憋气一周.皮肤组织病理:表皮内水肿,棘层肥厚,皮突延长,真皮血管周围见大量嗜酸性粒细胞.胸部CT:肺恶性肿瘤.胸部肿物病理示:低分化腺癌,局灶伴鳞癌分化.诊断:嗜酸细胞增多性皮炎;肺癌.%Female patient, 60 years old, presented with a one-year history of skin dryness and peeling with pruritus on the trunk and four limbs, worsing for one month. In recent 5 months,the patient have been suffered from worsing cough and expectoration for one week accompanied with dyspnea. Pathological examination showed epidermis with dropsy, acanthosis and elongation of the rete ridge. Infiltration of dense eosinophils surrounding of vessels were seen in the dermis. Chest CT showed lung cancer. Histopathology showed poorly differen-tiated adenocareinoma with focal differentiation of squamous cell carcinoma. Diagnosis of eosinophilia dermatitis accompanied with lung cancer was made.

  6. Whole-exome sequencing and genome-wide methylation analyses identify novel disease associated mutations and methylation patterns in idiopathic hypereosinophilic syndrome

    DEFF Research Database (Denmark)

    Andersen, Christen Lykkegaard; Nielsen, Helene Myrtue; Kristensen, Lasse Sommer

    2015-01-01

    reactive eosinophilic conditions to known clonal and suspected clonal eosinophilia. Somatic missense mutations in cancer-related genes were detected in three IHES patients. These included the spliceosome gene PUF60 and the cadherin gene CDH17. Furthermore, reactive eosinophilia samples could...... be differentiated from known- and suspected clonal eosinophilia samples based on 285 differentially methylated CpG sites corresponding to 128 differentially methylated genes. Using Ingenuity pathway analysis, we found that differentially methylated genes were highly enriched in functional pathways such as cancer...... or hypermethylated tumor suppressor genes. In addition, we identified a DNA methylation signature that is relevant for distinguishing clonal and suspected clonal eosinophilia from reactive eosinophilia per se, which may be useful in daily clinical work....

  7. A para-canalicular abscess resembling an inflamed chalazion.

    Science.gov (United States)

    Almaliotis, Diamantis; Nakos, Elias; Siempis, Thomas; Koletsa, Triantafyllia; Kostopoulos, Ioannis; Chatzipantazi, Maria; Karampatakis, Vasileios

    2013-01-01

    Background. Lacrimal infections by Actinomyces are rare and commonly misdiagnosed for long periods of time. They account for 2% of all lacrimal diseases. Case Report. We report a case of a 70-year-old female patient suffering from a para-canalicular abscess in the medial canthus of the left eye, beside the lower punctum lacrimale, resembling a chalazion. Purulence exited from the punctum lacrimale due to inflammation of the inferior canaliculus (canaliculitis). When pressure was applied to the mass, a second exit of purulence was also observed under the palpebral conjunctiva below the lacrimal caruncle. A surgical excision was performed followed by administration of local antibiotic therapy. The histopathological examination of the extracted mass revealed the existence of actinomycosis. Conclusion. Persistent or recurrent infections and lumps of the eyelids should be thoroughly investigated. Actinomyces as a causative agent should be considered. Differential diagnosis is broad and should include canaliculitis, chalazion, and multiple types of neoplasias. For this reason, in nonconclusive cases, a histopathological examination should be performed.

  8. A neural network dynamics that resembles protein evolution

    Science.gov (United States)

    Ferrán, Edgardo A.; Ferrara, Pascual

    1992-06-01

    We use neutral networks to classify proteins according to their sequence similarities. A network composed by 7 × 7 neurons, was trained with the Kohonen unsupervised learning algorithm using, as inputs, matrix patterns derived from the bipeptide composition of cytochrome c proteins belonging to 76 different species. As a result of the training, the network self-organized the activation of its neurons into topologically ordered maps, wherein phylogenetically related sequences were positioned close to each other. The evolution of the topological map during learning, in a representative computational experiment, roughly resembles the way in which one species evolves into several others. For instance, sequences corresponding to vertebrates, initially grouped together into one neuron, were placed in a contiguous zone of the final neural map, with sequences of fishes, amphibia, reptiles, birds and mammals associated to different neurons. Some apparent wrong classifications are due to the fact that some proteins have a greater degree of sequence identity than the one expected by phylogenetics. In the final neural map, each synaptic vector may be considered as the pattern corresponding to the ancestor of all the proteins that are attached to that neuron. Although it may be also tempting to link real time with learning epochs and to use this relationship to calibrate the molecular evolutionary clock, this is not correct because the evolutionary time schedule obtained with the neural network depends highly on the discrete way in which the winner neighborhood is decreased during learning.

  9. A Para-Canalicular Abscess Resembling an Inflamed Chalazion

    Directory of Open Access Journals (Sweden)

    Diamantis Almaliotis

    2013-01-01

    Full Text Available Background. Lacrimal infections by Actinomyces are rare and commonly misdiagnosed for long periods of time. They account for 2% of all lacrimal diseases. Case Report. We report a case of a 70-year-old female patient suffering from a para-canalicular abscess in the medial canthus of the left eye, beside the lower punctum lacrimale, resembling a chalazion. Purulence exited from the punctum lacrimale due to inflammation of the inferior canaliculus (canaliculitis. When pressure was applied to the mass, a second exit of purulence was also observed under the palpebral conjunctiva below the lacrimal caruncle. A surgical excision was performed followed by administration of local antibiotic therapy. The histopathological examination of the extracted mass revealed the existence of actinomycosis. Conclusion. Persistent or recurrent infections and lumps of the eyelids should be thoroughly investigated. Actinomyces as a causative agent should be considered. Differential diagnosis is broad and should include canaliculitis, chalazion, and multiple types of neoplasias. For this reason, in nonconclusive cases, a histopathological examination should be performed.

  10. Gait analysis in a mouse model resembling Leigh disease.

    Science.gov (United States)

    de Haas, Ria; Russel, Frans G; Smeitink, Jan A

    2016-01-01

    Leigh disease (LD) is one of the clinical phenotypes of mitochondrial OXPHOS disorders and also known as sub-acute necrotizing encephalomyelopathy. The disease has an incidence of 1 in 77,000 live births. Symptoms typically begin early in life and prognosis for LD patients is poor. Currently, no clinically effective treatments are available. Suitable animal and cellular models are necessary for the understanding of the neuropathology and the development of successful new therapeutic strategies. In this study we used the Ndufs4 knockout (Ndufs4(-/-)) mouse, a model of mitochondrial complex I deficiency. Ndusf4(-/-) mice exhibit progressive neurodegeneration, which closely resemble the human LD phenotype. When dissecting behavioral abnormalities in animal models it is of great importance to apply translational tools that are clinically relevant. To distinguish gait abnormalities in patients, simple walking tests can be assessed, but in animals this is not easy. This study is the first to demonstrate automated CatWalk gait analysis in the Ndufs4(-/-) mouse model. Marked differences were noted between Ndufs4(-/-) and control mice in dynamic, static, coordination and support parameters. Variation of walking speed was significantly increased in Ndufs4(-/-) mice, suggesting hampered and uncoordinated gait. Furthermore, decreased regularity index, increased base of support and changes in support were noted in the Ndufs4(-/-) mice. Here, we report the ability of the CatWalk system to sensitively assess gait abnormalities in Ndufs4(-/-) mice. This objective gait analysis can be of great value for intervention and drug efficacy studies in animal models for mitochondrial disease.

  11. Predator-Resembling Aversive Conditioning for Managing Habituated Wildlife

    Directory of Open Access Journals (Sweden)

    Elsabé Louise Kloppers

    2005-06-01

    Full Text Available Wildlife habituation near urban centers can disrupt natural ecological processes, destroy habitat, and threaten public safety. Consequently, management of habituated animals is typically invasive and often includes translocation of these animals to remote areas and sometimes even their destruction. Techniques to prevent or reverse habituation and other forms of in situ management are necessary to balance ecological and social requirements, but they have received very little experimental attention to date. This study compared the efficacy of two aversive conditioning treatments that used either humans or dogs to create sequences resembling chases by predators, which, along with a control category, were repeatedly and individually applied to 24 moderately habituated, radio-collared elk in Banff National Park during the winter of 2001-2002. Three response variables were measured before and after treatment. Relative to untreated animals, the distance at which elk fled from approaching humans, i.e., the flight response distance, increased following both human and dog treatments, but there was no difference between the two treatments. The proportion of time spent in vigilance postures decreased for all treatment groups, without differences among groups, suggesting that this behavior responded mainly to seasonal effects. The average distance between elk locations and the town boundary, measured once daily by telemetry, significantly increased for human-conditioned elk. One of the co-variates we measured, wolf activity, exerted counteracting effects on conditioning effects; flight response distances and proximity to the town site were both lower when wolf activity was high. This research demonstrates that it is possible to temporarily modify aspects of the behavior of moderately habituated elk using aversive conditioning, suggests a method for reducing habituation in the first place, and provides a solution for Banff and other jurisdictions to manage

  12. Facial resemblance to emotions: group differences, impression effects, and race stereotypes.

    Science.gov (United States)

    Zebrowitz, Leslie A; Kikuchi, Masako; Fellous, Jean-Marc

    2010-02-01

    The authors used connectionist modeling to extend previous research on emotion overgeneralization effects. Study 1 demonstrated that neutral expression male faces objectively resemble angry expressions more than female faces do, female faces objectively resemble surprise expressions more than male faces do, White faces objectively resemble angry expressions more than Black or Korean faces do, and Black faces objectively resemble happy and surprise expressions more than White faces do. Study 2 demonstrated that objective resemblance to emotion expressions influences trait impressions even when statistically controlling possible confounding influences of attractiveness and babyfaceness. It further demonstrated that emotion overgeneralization is moderated by face race and that racial differences in emotion resemblance contribute to White perceivers' stereotypes of Blacks and Asians. These results suggest that intergroup relations may be strained not only by cultural stereotypes but also by adaptive responses to emotion expressions that are overgeneralized to groups whose faces subtly resemble particular emotions.

  13. Aortic tear and dissection related to connective tissues abnormalities resembling Marfan syndrome in a Great Dane.

    Science.gov (United States)

    Lenz, Jennifer A; Bach, Jonathan F; Bell, Cynthia M; Stepien, Rebecca L

    2015-06-01

    Aortic tears and acute aortic dissection are rarely reported in dogs. This report describes a case of aortic dissection and probable sinus of Valsalva rupture in a young Great Dane with associated histopathologic findings suggestive of a connective tissue abnormality.

  14. The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome.

    OpenAIRE

    LYON, M. F.; Peters, J; Glenister, P H; Ball, S; Wright, E.

    1990-01-01

    The X chromosome-linked scurfy (sf) mutant of the mouse is recognized by the scaliness of the skin from which the name is derived and results in death of affected males at about 3-4 weeks of age. Consideration of known man-mouse homologies of the X chromosome prompted hematological studies, which have shown that the blood is highly abnormal. The platelet and erythrocyte counts are both reduced and become progressively lower relative to normal as the disease progresses. There is gastrointestin...

  15. Pulmonary Extramedullary Hematopoiesis in a Patient with Chronic Asthma Resembling Lung Cancer: A Case Report

    Directory of Open Access Journals (Sweden)

    Massood Hosseinzadeh

    2012-01-01

    Full Text Available Background. Extramedullary hematopoiesis is most often seen in reticuloendothelial organs specially spleen, liver, or lymph nodes, and it is rarely seen in lung parenchyma. Almost all reported cases of pulmonary extramedullary hematopoiesis occurred following myeloproliferative disorders specially myelofibrosis. Other less common underlying causes are thalassemia syndromes and other hemoglobinopathies. There was not any reported case of pulmonary extramedullary hematopoiesis in asthmatic patients in the medical literature. Case. Here we reported a 65-year-old lady who was a known case of bronchial asthma with recent developed right lower lobe lung mass. Chest X-ray and CT studies showed an infiltrating mass resembling malignancy. Fine needle aspiration cytology of mass revealed pulmonary extramedullary hematopoiesis. The patient followed for 10 months with serial physical examination and laboratory evaluations which were unremarkable. Conclusion. Extramedullary hematopoiesis of lung parenchyma can be mistaken for lung cancer radiologically. Although previous reported cases occurred with myelofibrosis or hemoglobinopathies, we are reporting the first case of asthma-associated extramedullary hematopoiesis.

  16. Unmasking diogenes syndrome

    Directory of Open Access Journals (Sweden)

    Kashinath Nayak

    2015-01-01

    Full Text Available Diogenes syndrome is characterized by extreme self-neglect, social withdrawal, and poor personal and domestic hygiene. We report a case of Diogenes syndrome presenting with dermatitis passivata. An unusual "mask" of dirt resembling a carapace, onset of neglect after awareness of a breast lump and resumption of personal grooming and social activities after removal of the lump and counseling were seen.

  17. Features Resembling Pseudotachylyte at Enchanted Rock Batholith, Texas

    Science.gov (United States)

    Buchanan, P. C.; Degenhardt, J. J., Jr.; Reid, A. M.

    1995-09-01

    Enchanted Rock batholith in central Texas is a granitic pluton of ~250 km^2 area [1]. The batholith intrudes Precambrian metamorphic rocks and is dated by Rb-Sr at 1,048+/-34 m.y. [2]. Plutonic rocks are exposed in a series of exfoliation domes located along the southeastern edge of the batholith. Numerous subvertical fractures occur along the outer margins of the intrusion and, in a few cases, between exfoliation domes. A number of these fractures contain veins described as pseudotachylytes by Barnes [3]. In hand specimen, the veins resemble pseudotachylytes, forming a branching network and containing angular fragments of local country rock in a fine-grained matrix that locally exhibits an apparent flow texture. Some smaller veins appear to have been injected into host rock. The veins range in width up to ~30 cm with boundaries which are sharp and smooth with undulating surfaces. Thin (~4-5 cm) aplite dikes cut the granite and generally show small amounts of displacement where intersected by the fracture veins (maximum measured apparent displacement ~75 cm). Matrix material in veins includes fragments of quartz, feldspar, biotite, and opaques. Matrix biotite is generally associated with opaques and occurs as numerous, tiny, oriented flakes between fragments of feldspar and quartz in areas which are darker than surrounding matrix. The flow-like textures of matrix materials are defined by these darker areas which are elongated subparallel to fracture direction. The finer-grained matrix biotite apparently derives from comminution of larger grains from host rock. Larger clasts include rock fragments and fragments of alkali feldspar and quartz, with a tendency for the larger fragments to concentrate in the centers of veins. Clasts are irregular in shape and are commonly angular and rarely contorted. Rock fragments are derived from host rock and also include "breccia within breccia" fragments. Single-mineral fragments display evidence of strain; quartz commonly shows

  18. Hummingbirds at artificial flowers made to resemble ornithophiles versus melittophiles

    Directory of Open Access Journals (Sweden)

    Wyndee A. Guzman

    2012-06-01

    Full Text Available Certain floral characteristics are associated with specific pollinators. Hummingbird-pollinated flowers are usually red, lack a landing platform, lack nectar guides, and contain a high amount of dilute sucrose-rich nectar. Here we test hypotheses concerning the reasons for these characters to the extent that they involve hummingbird responses. An array was set up of 16 artificial plants, each with five artificial flowers. (1 Flowers made to differ only in colour elicited a slight preference for red. (2 When colour was associated with nectar offerings, and birds generally learned to visit flowers that provided much more nectar but did not associatively learn differences as little as 2 µL. (3 Birds were offered 8 µL of 12% sucrose versus 2 µL of 48% hexose, and they did not prefer the dilute nectar; they showed no evidence of discerning sucrose from hexose; however, they preferred 48% over 12% sucrose when both were offered in the same quantity. (4 Birds preferred flowers that lacked landing platforms over those with landing platforms. (5 Birds were offered flowers with nectar guides, associated with differing nectar volumes, and they did not associate the higher nectar reward with either flower type. In summary, the feedback from hummingbirds reflects some of the differences between bird- and bee-adapted flowers, but nectar seemed less predictive than expected. Factors other than the behavioural proclivities of hummingbirds, such as adaptation to discourage bees, are discussed as additional causes for the differences between the syndromes. We also discuss significance testing for field experiments involving one unreplicated array.

  19. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.

    1982-11-01

    This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

  20. Genetics Home Reference: isodicentric chromosome 15 syndrome

    Science.gov (United States)

    ... isodicentric chromosome 15 syndrome include hyperactivity, anxiety, and frustration leading to tantrums. Other behaviors resemble features of ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...

  1. The Texas Adoption Project: adopted children and their intellectual resemblance to biological and adoptive parents.

    Science.gov (United States)

    Horn, J M

    1983-04-01

    Intelligence test scores were obtained from parents and children in 300 adoptive families and compared with similar measures available for the biological mothers of the same adopted children. Results supported the hypothesis that genetic variability is an important influence in the development of individual differences for intelligence. The most salient finding was that adopted children resemble their biological mothers more than they resemble the adoptive parents who reared them from birth. A small subset of the oldest adopted children did not resemble their biological mothers. The suggestion that the influence of genes declines with age is treated with caution since other adoption studies report a trend in the opposite direction.

  2. Effects of parenting quality on adolescents' personality resemblance to their parents. The TRAILS study.

    Science.gov (United States)

    Langenhof, M Rohaa; Komdeur, Jan; Oldehinkel, Albertine J

    2016-08-01

    This study considers the development of resemblance between 741 adolescents and their biological parents, across six NEO-PI-R personality traits known to be important in psychological problems: anger-hostility, impulsiveness, vulnerability, assertiveness, excitement-seeking, and self-discipline. We modelled the association between perceived parental warmth and rejection at age eleven and personality resemblance to parents at about age sixteen. Parenting experienced during early adolescence was related to the degree and direction in which adolescents resembled their parents five years later in life. Rejection, especially from fathers, significantly predicted a smaller resemblance to both the parents. Girls were more strongly affected by parental quality than boys, and there was some indication that adolescents responded in opposite ways to parenting from mothers and fathers. This study is a first step in uncovering the complex interplay between parenting, gender, and the current generation's ability to develop personality traits independent from the previous generation.

  3. Pathologic features of the eye in Down's syndrome with relationship to other chromosomal anomalies.

    Science.gov (United States)

    Ginsberg, J; Bofinger, M K; Roush, J R

    1977-06-01

    A 2,990-g newborn female mongoloid had narrow palpebral fissures with a mongoloid slant and Brushfield's spots. Pathologic ocular findings resembled those found in patients with trisomy 21 syndrome. Many lesions reflected excessive genetic material and qualitatively resembled those lesions in trisomy 13 and 18 syndromes.

  4. Who resembles whom? Mimetic and coincidental look-alikes among tropical reef fishes.

    Science.gov (United States)

    Robertson, D Ross

    2013-01-01

    Studies of mimicry among tropical reef-fishes usually give little or no consideration to alternative explanations for behavioral associations between unrelated, look-alike species that benefit the supposed mimic. I propose and assess such an alternative explanation. With mimicry the mimic resembles its model, evolved to do so in response to selection by the mimicry target, and gains evolved benefits from that resemblance. In the alternative, the social-trap hypothesis, a coincidental resemblance of the model to the "mimic" inadvertently attracts the latter to it, and reinforcement of this social trapping by learned benefits leads to the "mimic" regularly associating with the model. I examine three well known cases of supposed aggressive mimicry among reef-fishes in relation to nine predictions from these hypotheses, and assess which hypothesis offers a better explanation for each. One case, involving precise and complex morphological and behavioral resemblance, is strongly consistent with mimicry, one is inconclusive, and one is more consistent with a social-trap based on coincidental, imprecise resemblance. Few cases of supposed interspecific mimicry among tropical reef fishes have been examined in depth, and many such associations may involve social traps arising from generalized, coincidental resemblance. Mimicry may be much less common among these fishes than is generally thought.

  5. Rett syndrome: a study of the face

    NARCIS (Netherlands)

    J.E. Allanson; R.C.M. Hennekam; U. Moog; E.E. Smeets

    2011-01-01

    Rett syndrome is a unique disorder of neurodevelopment that is characterized by an evolving behavioral and developmental phenotype, which emerges after an apparently normal early infantile period. It almost exclusively affects females. The face of Rett syndrome is said to resemble that of Angelman s

  6. Anti-Lipid IgG Antibodies Are Produced via Germinal Centers in a Murine Model Resembling Human Lupus

    Science.gov (United States)

    Wong-Baeza, Carlos; Reséndiz-Mora, Albany; Donis-Maturano, Luis; Wong-Baeza, Isabel; Zárate-Neira, Luz; Yam-Puc, Juan Carlos; Calderón-Amador, Juana; Medina, Yolanda; Wong, Carlos; Baeza, Isabel; Flores-Romo, Leopoldo

    2016-01-01

    Anti-lipid IgG antibodies are produced in some mycobacterial infections and in certain autoimmune diseases [such as anti-phospholipid syndrome, systemic lupus erythematosus (SLE)]. However, few studies have addressed the B cell responses underlying the production of these immunoglobulins. Anti-lipid IgG antibodies are consistently found in a murine model resembling human lupus induced by chlorpromazine-stabilized non-bilayer phospholipid arrangements (NPA). NPA are transitory lipid associations found in the membranes of most cells; when NPA are stabilized they can become immunogenic and induce specific IgG antibodies, which appear to be involved in the development of the mouse model of lupus. Of note, anti-NPA antibodies are also detected in patients with SLE and leprosy. We used this model of lupus to investigate in vivo the cellular mechanisms that lead to the production of anti-lipid, class-switched IgG antibodies. In this murine lupus model, we found plasma cells (Gr1−, CD19−, CD138+) producing NPA-specific IgGs in the draining lymph nodes, the spleen, and the bone marrow. We also found a significant number of germinal center B cells (IgD−, CD19+, PNA+) specific for NPA in the draining lymph nodes and the spleen, and we identified in situ the presence of NPA in these germinal centers. By contrast, very few NPA-specific, extrafollicular reaction B cells (B220+, Blimp1+) were found. Moreover, when assessing the anti-NPA IgG antibodies produced during the experimental protocol, we found that the affinity of these antibodies progressively increased over time. Altogether, our data indicate that, in this murine model resembling human lupus, B cells produce anti-NPA IgG antibodies mainly via germinal centers. PMID:27746783

  7. Scheie syndrome

    Science.gov (United States)

    ... Hurler syndrome) MPS II (Hunter syndrome) MPS IV (Morquio syndrome) MPS III (Sanfilippo syndrome) Causes Scheie syndrome ... Autosomal recessive Cloudy cornea Hearing loss Hurler syndrome Morquio syndrome Review Date 4/20/2015 Updated by: ...

  8. Older Adults' Trait Impressions of Faces Are Sensitive to Subtle Resemblance to Emotions.

    Science.gov (United States)

    Franklin, Robert G; Zebrowitz, Leslie A

    2013-09-01

    Younger adults (YA) attribute emotion-related traits to people whose neutral facial structure resembles an emotion (emotion overgeneralization). The fact that older adults (OA) show deficits in accurately labeling basic emotions suggests that they may be relatively insensitive to variations in the emotion resemblance of neutral expression faces that underlie emotion overgeneralization effects. On the other hand, the fact that OA, like YA, show a 'pop-out' effect for anger, more quickly locating an angry than a happy face in a neutral array, suggests that both age groups may be equally sensitive to emotion resemblance. We used computer modeling to assess the degree to which neutral faces objectively resembled emotions and assessed whether that resemblance predicted trait impressions. We found that both OA and YA showed anger and surprise overgeneralization in ratings of danger and naiveté, respectively, with no significant differences in the strength of the effects for the two age groups. These findings suggest that well-documented OA deficits on emotion recognition tasks may be more due to processing demands than to an insensitivity to the social affordances of emotion expressions.

  9. PIRIFORMIS SYNDROME: A REVIEW

    OpenAIRE

    Subhasis Ranjan; Souvik; Alok Sovon; Arijit; Rajib; Amit Kumar

    2014-01-01

    Piriformis syndrome is a painful musculoskeletal condition resembling sciatica, secondary to sciatic nerve entrapment in piriformis muscle at the greater sciatic notch and responsible for 6%cases of low back pain, also called back pocket sciatica or wallet sciatica, first described in 1928 by Yeoman. It usually occurs due to abnormalities in piriformis muscle such as hypertrophy, inflammation and anatomic variations resulting in irritation and entrapment of sciatic nerve. ...

  10. PIRIFORMIS SYNDROME: A REVIEW

    Directory of Open Access Journals (Sweden)

    Subhasis Ranjan

    2014-04-01

    Full Text Available Piriformis syndrome is a painful musculoskeletal condition resembling sciatica, secondary to sciatic nerve entrapment in piriformis muscle at the greater sciatic notch and responsible for 6%cases of low back pain, also called back pocket sciatica or wallet sciatica, first described in 1928 by Yeoman. It usually occurs due to abnormalities in piriformis muscle such as hypertrophy, inflammation and anatomic variations resulting in irritation and entrapment of sciatic nerve. The diagnosis of piriformis syndrome is made by clinical features, electromyography and nerve conduction velocity, computed tomography, magnetic resonance imaging and bone scan. Management of piriformis syndrome includes nonsurgical and surgical interventions. Non-surgical management includes- nonsteroidal anti-inflammatory drugs, physical therapy, ultrasound, correction of biomechanical abnormality, lifestyle modifications, local anesthetic and/or steroid injection into the piriformis muscle. Surgical management includes-surgical release of piriformis muscle and decompression of the sciatic nerve. Piriformis Syndrome- a review.

  11. From similitude to success: The effects of facial resemblance on perceptions of team effectiveness.

    Science.gov (United States)

    Wang, Ze; He, Xin; Liu, Fan

    2016-03-01

    Scant empirical research has focused on how impressions of teams are formed based on members' collective appearance, even though team photos are omnipresent in visual communications and teamwork is a common theme to elicit positive responses. Across 4 studies, we show that a subtle increase in the facial resemblance among team members enhances observers' evaluations of team effectiveness. This resemblance effect is mediated by perceived cooperative intent among team players. Furthermore, we demonstrate a reversal of the resemblance effect through the moderating role of information valence and extend the finding from team perception to behavioral intention. These results hold across different manipulations, contexts, stimuli, and sample characteristics. Collectively, this research presents the first empirical evidence that inferences based on facial morphology persist well beyond evaluations of individuals to influence the way a team, as a whole, is perceived.

  12. MRI findings of uterine tumor resembling ovarian sex-cord tumor: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Sung Hwan; Kim, Hee Jin; Han, Hyun Young; Hwang, In Taek; Kim, Ju Heon; Lee, Seung Yeon [Eulji University Hospital, Eulji University School of Medicine, Daejeon (Korea, Republic of)

    2017-04-15

    Uterine tumor resembling ovarian sex-cord tumor is a very rare uterine neoplasm that was first described by Clement and Scully in 1976. Since then, approximately 70 cases have been reported. However, these case reports have mainly described and discussed the pathologic and clinical features, and few radiologic findings have been presented. We experienced a case of a uterine tumor resembling ovarian sex-cord tumor, which was considered a uterine leiomyoma or leiomyosarcoma upon initial impression at preoperative evaluation including transvaginal ultrasonography and pelvic magnetic resonance imaging. Its diagnosis was pathologically confirmed after total abdominal hysterectomy.

  13. ECG phenomena: pseudopreexcitation and repolarization disturbances resembling ST-elevation myocardial infarction caused by an intraatrial rhabdomyoma in a newborn.

    Science.gov (United States)

    Paech, Christian; Gebauer, Roman Antonin

    2014-01-01

    As is known from other reports, a rhabdomyoma or tumor metastasis may alter intracardiac electrical conduction, producing electrical phenomena like pseudopreexcitation or repolarization disturbances resembling ST-elevation myocardial infarction or Brugada's syndrome. We present a newborn with a giant atrial rhabdomyoma and additionally multiple ventricular rhabdomyomas. He presented with several electrocardiogram (ECG) phenomena due to tumor-caused atrial depolarization and repolarization disturbances. Except from the cardiac tumors, the physical status was within normal range. Initial ECG showed a rapid atrial tachycardia with a ventricular rate of 230 bpm, which was terminated by electrical cardioversion. Afterwards, the ECG showed atrial rhythm with frequent atrial premature contractions and deformation of the PR interval with large, broad P waves and loss of discret PR segment, imposing as pseudopreexcitation. The following QRS complex was normal, with seemingly abnormal ventricular repolarization resembeling ST-elevation myocardial infarction. The atrial tumor was resected with consequent vast atrial reconstruction using patch plastic. The ventricular tumors were left without manipulation. After surgery, pseudopreexcitation and repolarization abnormalities vanished entirely and an alternans between sinus rhythm and ectopic atrial rhythm was present. These phenomena were supposably caused by isolated atrial depolarization disturbances due to tumor-caused heterogenous endocardial activation. The seemingly abnormal ventricular repolarization is probably due to repolarization of the atrial mass, superimposed on the ventricular repolarization. Recognizably, the QRS complex before and after surgical resection of the rhabdomyoma is identical, underlining the atrial origin of the repolarization abnormalities before surgery.

  14. A novel and automatic mammographic texture resemblance marker is an independent risk factor for breast cancer

    DEFF Research Database (Denmark)

    Nielsen, Mads; Karemore, Gopal; Loog, Marco

    2011-01-01

    Objective: We investigated whether breast cancer is predicted by a breast cancer risk mammographic texture resemblance (MTR) marker. Methods: A previously published case-control study included 495 women of which 245 were diagnosed with breast cancer. In baseline mammograms, 2-4 years prior...

  15. Mammographic texture resemblance generalizes as an independent risk factor for breast cancer

    NARCIS (Netherlands)

    Nielsen, M.; Vachon, C.M.; Scott, C.G.; Chernoff, K.; Karemore, G.; Karssemeijer, N.; Lillholm, M.; Karsdal, M.A.

    2014-01-01

    Breast density has been established as a major risk factor for breast cancer. We have previously demonstrated that mammographic texture resemblance (MTR), recognizing the local texture patterns of the mammogram, is also a risk factor for breast cancer, independent of percent breast density. We exami

  16. Effects of parenting quality on adolescents' personality resemblance to their parents. The TRAILS study

    NARCIS (Netherlands)

    Langenhof, M Rohaa; Komdeur, Jan; Oldehinkel, Albertine J

    2016-01-01

    This study considers the development of resemblance between 741 adolescents and their biological parents, across six NEO-PI-R personality traits known to be important in psychological problems: anger-hostility, impulsiveness, vulnerability, assertiveness, excitement-seeking, and self-discipline. We

  17. Family resemblance in fat intake, nutrition attitudes and beliefs : a study among three generations of women

    NARCIS (Netherlands)

    Stafleu, A.

    1994-01-01

    In this thesis nutrition attitudes, beliefs, and fat intake in three generations of women are described. The aim of the study was twofold: the development of methods, and to study family resemblance in food habits. Based on literature study and qualitative pilot studies a questionnaire on

  18. Conjugal plasmid transfer in Streptomyces resembles bacterial chromosome segregation by FtsK/SpoIIIE

    OpenAIRE

    Vogelmann, Jutta; Ammelburg, Moritz; Finger, Constanze; Guezguez, Jamil; LINKE, Dirk; Flötenmeyer, Matthias; Stierhof, York-Dieter; Wohlleben, Wolfgang; Muth, Günther

    2011-01-01

    Most bacteria share virulence and resistance genes by transferring single-stranded DNA through a type IV secretion system. Streptomycetes, however, exchange dsDNA, using a system found to closely resemble machineries for prokaryotic chromosome segregation or DNA translocation during spore formation.

  19. Family resemblance in fat intake, nutrition attitudes and beliefs: a study among three generations of women.

    NARCIS (Netherlands)

    Stafleu, A.

    1994-01-01

    In this thesis nutrition attitudes, beliefs, and fat intake in three generations of women are described. The aim of the study was twofold: the development of methods, and to study family resemblance in food habits. Based on literature study and qualitative pilot studies a questionnaire on beliefs an

  20. Startle eye-blink modulation by facial self-resemblance and current mood.

    Science.gov (United States)

    Finke, Johannes B; Larra, Mauro F; Schilling, Thomas M; Lass-Hennemann, Johanna; Blumenthal, Terry D; Schächinger, Hartmut

    2015-06-01

    Although salient stimuli are known to modulate startle eye-blink responses, and one's own face is considered of particular salience, effects of facial self-resemblance on startle responsiveness have not been systematically investigated. For the present study, pictures from the FACES database (rated as neutral) were digitally morphed to resemble the participants' (N=37) faces to varying degrees (25-50-75%). Perceptually matched geometrical shapes served as a control condition. At SOAs of either 300ms or 3000ms after picture onset, startle responses were elicited by white noise (50ms, 105dB), and recorded at the orbicularis oculi via EMG. Prior to the experiment, self-reported mood was assessed by means of the PANAS. Relative to non-face stimuli, the presentation of faces reduced startle magnitude at short, but not long, lead intervals. Furthermore, for probes presented at a SOA of 300ms, a linear decrease in startle magnitude with higher levels of self-resemblance was observed, presumably reflecting higher salience of the self-face. The startle modulating effect of self-resembling faces during longer lead intervals was moderated by the participants' current mood: negative affect predicted stronger patterns of attenuation, which might be interpreted as an increase in self-focus resulting from more negative mood.

  1. A novel and automatic mammographic texture resemblance marker is an independent risk factor for breast cancer

    NARCIS (Netherlands)

    Nielsen, M.; Karemore, G.; Loog, M.; Raundahl, J.; Karssemeijer, N.; Otten, J.D.M.; Karsdal, M.A.; Vachon, C.M.; Christiansen, C.

    2011-01-01

    OBJECTIVE: We investigated whether breast cancer is predicted by a breast cancer risk mammographic texture resemblance (MTR) marker. METHODS: A previously published case-control study included 495 women of which 245 were diagnosed with breast cancer. In baseline mammograms, 2-4 years prior to diagno

  2. Postoperative spindle cell nodules of genitourinary tract resembling sarcomas. A report of eight cases.

    Science.gov (United States)

    Proppe, K H; Scully, R E; Rosai, J

    1984-02-01

    Eight cases of proliferative spindle cell nodules that developed 5 weeks to 3 months after operations on the lower genital tract of four women, and the lower urinary tract of four men, are described. The lesions ranged up to 4 cm in diameter, resembled spindle cell sarcomas on microscopical examination, and were initially interpreted as such in most of the cases. Six of the lesions were treated by local excision alone, and two by a radical surgical procedure, followed by radiation therapy in one case. The six patients whose lesions were treated inadequately on the assumption that they were sarcomas were free of disease 9-60 months (average, 28 months) postoperatively, and the two men who were treated by radical procedures were well 18 and 60 months later. The microscopic features, the unusual clinical setting, and the favorable prognosis of these lesions suggest that they were examples of a hitherto undescribed form of benign reactive lesion resembling a sarcoma.

  3. Blood differential test

    Science.gov (United States)

    ... glands do not produce enough hormones) Allergic reaction Cancer Chronic myelogenous leukemia Collagen vascular disease Hypereosinophilic syndromes Parasitic infection An increased percentage of basophils may be ...

  4. On Resemblance Between the Protagonists in Wuthering Heights and the Author——Emily Bront?

    Institute of Scientific and Technical Information of China (English)

    郭丹

    2015-01-01

    Wuthering Heights has been puzzling readers in many respects.People have been wondering how an unmarried lady like Emily Bront?could create the most intense,the most beautiful and at the same time the most horrible love story and where her experience came from.This article makes attempt to compare the resemblance between the protagonists and the author to discuss the source of the story’s creation and answer the above questions.

  5. Gastrointestinal symptoms resembling ulcerative proctitis caused by larvae of the drone fly Eristalis tenax.

    Science.gov (United States)

    Desoubeaux, Guillaume; Gaillard, Julien; Borée-Moreau, Diane; Bailly, Éric; Andres, Christian R; Chandenier, Jacques

    2014-04-01

    We report a case of facultative intestinal myiasis due to larvae of the drone fly Eristalis tenax, also named the rat-tailed maggots. The development of larvae in the lower bowel was responsible for non-specific gastrointestinal symptoms that resembled ulcerative proctitis. The diagnosis was established upon the observation of four spontaneously excreted mobile larvae. The definite identification of the E. tenax species was made possible by scanning electron microscopy. The clinical outcome was satisfactory.

  6. Parent-child resemblance in weight status and its correlates in the United States.

    Directory of Open Access Journals (Sweden)

    Yinghui Liu

    Full Text Available BACKGROUND: Few studies have examined parent-child resemblance in body weight status using nationally representative data for the US. DESIGN: We analyzed Body Mass Index (BMI, weight status, and related correlates for 4,846 boys, 4,725 girls, and their parents based on US nationally representative data from the 2006 and 2007 Medical Expenditure Panel Survey (MEPS. Pearson partial correlation coefficients, percent agreement, weighted kappa coefficients, and binary and multinomial logistic regression were used to examine parent-child resemblance, adjusted for complex sampling design. RESULTS: Pearson partial correlation coefficients between parent and child's BMI measures were 0.15 for father-son pairs, 0.17 for father-daughter pairs, 0.20 for mother-son pairs, and 0.23 for mother-daughter pairs. The weighted kappa coefficients between BMI quintiles of parent and child ranged from -0.02 to 0.25. Odds ratio analyses found children were 2.1 (95% confidence interval (CI: 1.6, 2.8 times more likely to be obese if only their father was obese, 1.9 (95% CI: 1.5, 2.4 times more likely if only their mother was obese, and 3.2 (95% CI: 2.5, 4.2 times more likely if both parents were obese. CONCLUSIONS: Parent-child resemblance in BMI appears weak and may vary across parent-child dyad types in the US population. However, parental obesity status is associated with children's obesity status. Use of different measures of parent-child resemblance in body weight status can lead to different conclusions.

  7. Facial Resemblance Exaggerates Sex-Specific Jealousy-Based Decisions1

    Directory of Open Access Journals (Sweden)

    Steven M. Platek

    2007-01-01

    Full Text Available Sex differences in reaction to a romantic partner's infidelity are well documented and are hypothesized to be attributable to sex-specific jealousy mechanisms which are utilized to solve adaptive problems associated with risk of extra-pair copulation. Males, because of the risk of cuckoldry become more upset by sexual infidelity, while females, because of loss of resources and biparental investment tend to become more distressed by emotional infidelity. However, the degree to which these sex-specific reactions to jealousy interact with cues to kin are completely unknown. Here we investigated the interaction of facial resemblance with decisions about sex-specific jealousy scenarios. Fifty nine volunteers were asked to imagine that two different people (represented by facial composites informed them about their romantic partner's sexual or emotional infidelity. Consistent with previous research, males ranked sexual infidelity scenarios as most upsetting and females ranked emotional infidelity scenarios most upsetting. However, when information about the infidelity was provided by a face that resembled the subject, sex-specific reactions to jealousy were exaggerated. This finding highlights the use of facial resemblance as a putative self-referent phenotypic matching cue that impacts trusting behavior in sexual contexts.

  8. Dumping Syndrome

    Science.gov (United States)

    ... System & How it Works Digestive Diseases A-Z Dumping Syndrome What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ... the colon and rectum—and anus. What causes dumping syndrome? Dumping syndrome is caused by problems with ...

  9. Resembling a viper: implications of mimicry for conservation of the endangered smooth snake.

    Science.gov (United States)

    Valkonen, Janne K; Mappes, Johanna

    2014-12-01

    The phenomenon of Batesian mimicry, where a palatable animal gains protection against predation by resembling an unpalatable model, has been a core interest of evolutionary biologists for 150 years. An extensive range of studies has focused on revealing mechanistic aspects of mimicry (shared education and generalization of predators) and the evolutionary dynamics of mimicry systems (co-operation vs. conflict) and revealed that protective mimicry is widespread and is important for individual fitness. However, according to our knowledge, there are no case studies where mimicry theories have been applied to conservation of mimetic species. Theoretically, mimicry affects, for example, frequency dependency of predator avoidance learning and human induced mortality. We examined the case of the protected, endangered, nonvenomous smooth snake (Coronella austriaca) that mimics the nonprotected venomous adder (Vipera berus), both of which occur in the Åland archipelago, Finland. To quantify the added predation risk on smooth snakes caused by the rarity of vipers, we calculated risk estimates from experimental data. Resemblance of vipers enhances survival of smooth snakes against bird predation because many predators avoid touching venomous vipers. Mimetic resemblance is however disadvantageous against human predators, who kill venomous vipers and accidentally kill endangered, protected smooth snakes. We found that the effective population size of the adders in Åland is very low relative to its smooth snake mimic (28.93 and 41.35, respectively).Because Batesian mimicry is advantageous for the mimic only if model species exist in sufficiently high numbers, it is likely that the conservation program for smooth snakes will fail if adders continue to be destroyed. Understanding the population consequences of mimetic species may be crucial to the success of endangered species conservation. We suggest that when a Batesian mimic requires protection, conservation planners should

  10. Right atrial aneurysm with downward displacement of the anterior leaflet that resembled Ebstein's anomaly.

    Science.gov (United States)

    Yamauchi, Sanae; Suzuki, Yasuyuki; Daitoku, Kazuyuki; Kimura, Masaomi; Okumura, Ken; Fukuda, Ikuo

    2016-06-08

    A 13-year-old boy presented with right atrial aneurysm and downward displacement of the anterior leaflet in the tricuspid valve into the right ventricle, without tricuspid valve regurgitation. Paroxysmal atrial flutter was caused by an abnormal electrical re-entry circuit, which could not be treated using catheter radiofrequency ablation. Therefore, the patient underwent surgical ablation and resection of the enlarged right atrial wall. The anterior leaflet of the tricuspid valve was plastered and displaced downward into the right ventricle, which resembled Ebstein's anomaly. Pathological evaluation revealed a thin wall that contained fibrous tissue with lipomatous degeneration and few muscular elements. No postoperative arrhythmia was observed.

  11. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... exogenous Cushing syndrome . Prednisone, dexamethasone, and ...

  12. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... two medicines that affect the body's level of serotonin are taken together at the same time. The ...

  13. Familial resemblance of borderline personality disorder features: genetic or cultural transmission?

    Directory of Open Access Journals (Sweden)

    Marijn A Distel

    Full Text Available Borderline personality disorder is a severe personality disorder for which genetic research has been limited to family studies and classical twin studies. These studies indicate that genetic effects explain 35 to 45% of the variance in borderline personality disorder and borderline personality features. However, effects of non-additive (dominance genetic factors, non-random mating and cultural transmission have generally not been explored. In the present study an extended twin-family design was applied to self-report data of twins (N = 5,017 and their siblings (N = 1,266, parents (N = 3,064 and spouses (N = 939 from 4,015 families, to estimate the effects of additive and non-additive genetic and environmental factors, cultural transmission and non-random mating on individual differences in borderline personality features. Results showed that resemblance among biological relatives could completely be attributed to genetic effects. Variation in borderline personality features was explained by additive genetic (21%; 95% CI 17-26% and dominant genetic (24%; 95% CI 17-31% factors. Environmental influences (55%; 95% CI 51-60% explained the remaining variance. Significant resemblance between spouses was observed, which was best explained by phenotypic assortative mating, but it had only a small effect on the genetic variance (1% of the total variance. There was no effect of cultural transmission from parents to offspring.

  14. Like father, like son: young children's understanding of how and why offspring resemble their parents.

    Science.gov (United States)

    Solomon, G E; Johnson, S C; Zaitchik, D; Carey, S

    1996-02-01

    4 studies investigated the broad claim that preschoolers understand biological inheritance. In Study 1, 4-7-year-old children were told a story in which a boy was born to one man and adopted by another. The biological father was described as having one set of features (e.g., green eyes) and the adoptive father as having another (e.g., brown eyes). Subjects were asked which man the boy would resemble when he grew up. Preschoolers showed little understanding that selective chains of processes mediate resemblance to parents. It was not until age 7 that children substantially associated the boy with his biological father on physical features and his adoptive father on beliefs. That is, it was not until age 7 that children demonstrated that they understood birth as part of a process selectively mediating the acquisition of physical traits and learning or nurturance as mediating the acquisition of beliefs. In Study 2, subjects were asked whether, as a boy grew up, various of his features could change. Children generally shared our adult intuitions, indicating that their failure in Study 1 was not due to their having a different sense of what features can change. Studies 3 and 4 replicated Study 1, with stories involving mothers instead of fathers and with lessened task demands. Taken together, the results of the 4 studies refute the claim that preschoolers understand biological inheritance. The findings are discussed in terms of whether children understand biology as an autonomous cognitive domain.

  15. [Kearns-Sayre syndrome: two case reports].

    Science.gov (United States)

    Zago Filho, Luiz Alberto; Shiokawa, Naoye

    2009-01-01

    Two cases in which patients had progressive loss of visual acuity in four years and eight months respectively are described. Clinical examination revealed fundoscopic alterations of the retina, pigment epithelium and choriocapillaris showing marked atrophy. The clinical picture resembles Kearns-Sayre syndrome. Etiological investigation is fundamental, because most of time this condition is associated with more serious systemic complications which need specific care.

  16. Syndromes with congenital brittle bones

    Directory of Open Access Journals (Sweden)

    Plotkin Horacio

    2004-08-01

    Full Text Available Abstract Background There is no clear definition of osteogenesis imperfecta (OI. The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI. Discussion A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in "OI" (those secondary to mutations in the type I pro-collagen genes, and "syndromes resembling OI" (those secondary to mutations other that the type I pro-collagen genes, identified or not. A definition for OI is proposed as a syndrome of congenital brittle bones secondary to mutations in the genes codifying for pro-collagen genes (COL1A1 and COL1A2. Summary A debate about the definition of OI and a possible clinical and prognostic classification are warranted.

  17. Gardner Syndrome

    Science.gov (United States)

    ... Home > Types of Cancer > Gardner Syndrome Request Permissions Gardner Syndrome Approved by the Cancer.Net Editorial Board , 06/2014 What is Gardner syndrome? Gardner syndrome is a subtype of familial ...

  18. Derivation and validation of murine histologic alterations resembling asthma, with two proposed histologic grade parameters

    Directory of Open Access Journals (Sweden)

    Sutherland Mhairi

    2009-10-01

    Full Text Available Abstract Background The objective was to define murine histologic alterations resembling asthma in a BALB/c OVA model and to suggest grading criteria. Identified were six salient histologic findings in lungs with putative allergic inflammation: 1 bronchoarterial space inflammation; 2 peri-venular inflammation; 3 inflammation about amuscular blood vessels; 4 inter-alveolar space inflammation, not about capillaries; 5 pleural inflammation; and 6 eosinophils within the inflammatory aggregates. An initial study comprised six groups of twelve mice each: 1 stressed, control; 2 stressed, sensitized; 3 stressed, challenged; 4 not physically stressed, control; 5 not physically stressed, sensitized; 6 not physically stressed, challenged. A second study comprised four experimental groups of twenty mice each: 1 stressed, control; 2 stressed, challenged; 3 not physically stressed, control; 4 not physically stressed, challenged. A third study evaluated two grading criteria, 1 the proportion of non-tracheal respiratory passages with inflammatory aggregates and 2 mitoses in the largest two non-tracheal respiratory passages, in five groups of five mice each, evaluated at different times after the last exposure. Results The first study suggested the six histological findings might reliably indicate the presence of alterations resembling asthma: whereas 82.4% of mice with a complete response had detectable interleukin (IL-5, only 3.8% of mice without one did; whereas 77.8% of mice with a complete response were challenged mice, only 6.7% of mice without complete responses were. The second study revealed that the six histological findings provided a definition that was 97.4% sensitive and 100% specific. The third study found that the odds of a bronchial passage's having inflammation declined 1 when mitoses were present (OR = 0.73, 0.60 - 0.90, and 2 with one day increased time (OR = 0.75, 0.65 - 0.86. Conclusion A definition of murine histologic alterations

  19. American alligator proximal pedal phalanges resemble human finger bones: Diagnostic criteria for forensic investigators.

    Science.gov (United States)

    Ferraro, Joseph V; Binetti, Katie M

    2014-07-01

    A scientific approach to bone and tooth identification requires analysts to pursue the goal of empirical falsification. That is, they may attribute a questioned specimen to element and taxon only after having ruled out all other possible attributions. This requires analysts to possess a thorough understanding of both human and non-human osteology, particularly so for remains that may be morphologically similar across taxa. To date, forensic anthropologists have identified several potential 'mimics' for human skeletal remains, including pig teeth and bear paws. Here we document another possible mimic for isolated human skeletal elements--the proximal pedal phalanges of American alligators (Alligator mississippiensis) closely resemble the proximal and intermediate hand phalanges of adult humans. We detail morphological similarities and differences between these elements, with the goal of providing sufficient information for investigators to confidently falsify the hypothesis that a questioned phalanx is derived from an American alligator.

  20. An insulinoma with clinical and electroencephalographic features resembling complex partial seizures

    Institute of Scientific and Technical Information of China (English)

    Shuang WANG; Hai-tao HU; Shu-qun WEN; Zhong-jin WANG; Bao-rong ZHANG; Mei-ping DING

    2008-01-01

    We described a female patient with insulinoma who experienced recurrent episodes of automatism, confusion and convulsion. Furthermore, her electroencephalography (EEG) findings resembled the pattern in complex partial seizures with secondary generalization. The interictal EEG showed spikes and sharp waves, as well as focal slowing over the left temporal lobe, and the ictal EEG revealed generalized spikes and sharp waves associated with diffused slowing. She was initially misdiagnosed as pharmacoresistant epilepsy. After the insulinoma was found and surgically removed, her EEG turned normal and she was seizure-free during the 4-year follow-up. This report highlights the need for careful reassessment of all seizures refractory to medication, even for the patients associated with epileptiform discharges on EEG.

  1. Frontal lobe epilepsy with atypical seizure semiology resembling shuddering attacks or wet dog shake seizures.

    Science.gov (United States)

    Jahodova, Alena; Krsek, Pavel; Komarek, Vladimir; Kudr, Martin; Kyncl, Martin; Zamecnik, Josef; Tichy, Michal

    2012-03-01

    We report a girl with a drug-resistant frontal lobe epilepsy caused by focal cortical dysplasia, who exhibited uncommon seizures. The seizures consisted of shoulder or whole body shuddering after a short psychic aura and face grimacing. Consciousness was fully preserved. The seizures resembled "wet dog shake" seizures described in rat models of epilepsy or shuddering attacks in infants. EEG findings were inconclusive, however, MRI showed a clear dysplastic lesion in the right frontal mesial and polar structures. The patient underwent an extended lesionectomy guided by neuronavigation and intraoperative electrocorticography. Focal cortical dysplasia type Ib was histologically confirmed and the patient has been seizure-free for the three years following resection. [Published with video sequences].

  2. The heat-pipe resembling action of boiling bubbles in endovenous laser ablation.

    Science.gov (United States)

    van der Geld, Cees W M; van den Bos, Renate R; van Ruijven, Peter W M; Nijsten, Tamar; Neumann, H A Martino; van Gemert, Martin J C

    2010-11-01

    Endovenous laser ablation (EVLA) produces boiling bubbles emerging from pores within the hot fiber tip and traveling over a distal length of about 20 mm before condensing. This evaporation-condensation mechanism makes the vein act like a heat pipe, where very efficient heat transport maintains a constant temperature, the saturation temperature of 100 degrees C, over the volume where these non-condensing bubbles exist. During EVLA the above-mentioned observations indicate that a venous cylindrical volume with a length of about 20 mm is kept at 100 degrees C. Pullback velocities of a few mm/s then cause at least the upper part of the treated vein wall to remain close to 100 degrees C for a time sufficient to cause irreversible injury. In conclusion, we propose that the mechanism of action of boiling bubbles during EVLA is an efficient heat-pipe resembling way of heating of the vein wall.

  3. Ethionamide-induced pellagroid dermatitis resembling lichen simplex chronicus: A report of two cases

    Directory of Open Access Journals (Sweden)

    Gaurav Garg

    2011-01-01

    Full Text Available Pellagra is a niacin deficiency disorder characterized clinically by diarrhea, dermatitis, and dementia. However, few drugs also cause pellagroid dermatitis. Recently, we encountered two cases of pellagroid dermatitis; both were on second line of antituberculosis drugs. Case 1 was of multidrug-resistant pulmonary tuberculosis. Patient was on ethionamide since one year before developing pellagroid dermatitis. Case 2 was of central nervous system tuberculoma and was on second line of antitubercular drugs. This patient was on ethionamide and isoniazid (INH since six months before developing pellagroid dermatitis. This patient had previously taken first line of antituberculous therapy, inclusive of INH, for 1 year without any dermatitis. The skin lesions in both patients were symmetric hyperpigmented thickened plaques with prominent skin markings resembling lichen simplex chronicus. Nicotinamide 300 mg in three divided doses healed the lesions completely within 4 weeks and 3 weeks in first and second patient, respectively.

  4. Mammographic texture resemblance generalizes as an independent risk factor for breast cancer

    DEFF Research Database (Denmark)

    Nielsen, Mads; Vachon, Celine M.; Scott, Christopher G.

    2014-01-01

    density. We examine if these findings generalize to another population.METHODS:Texture patterns were recorded in digitalized pre-diagnosis (3.7years) film mammograms of a nested case-control study within the Dutch screening program (S1) comprising of 245 breast cancers and 250 matched controls....... The patterns were recognized in the same study using cross-validation to form resemblance scores associated with breast cancer. Texture patterns from S1 were examined in an independent nested case-control study within the Mayo Mammography Health Study cohort (S2) of 226 cases and 442 matched controls......: mammograms on average 8.5years prior to diagnosis, risk factor information and percent mammographic density (PD) estimated using Cumulus were available. MTR scores estimated from S1, S2 and S1+S2 (the latter two as cross-validations) were evaluated in S2. MTR scores were analyzed as both quartiles...

  5. Silica deposits on Mars with features resembling hot spring biosignatures at El Tatio in Chile

    Science.gov (United States)

    Ruff, Steven W.; Farmer, Jack D.

    2016-11-01

    The Mars rover Spirit encountered outcrops and regolith composed of opaline silica (amorphous SiO2.nH2O) in an ancient volcanic hydrothermal setting in Gusev crater. An origin via either fumarole-related acid-sulfate leaching or precipitation from hot spring fluids was suggested previously. However, the potential significance of the characteristic nodular and mm-scale digitate opaline silica structures was not recognized. Here we report remarkably similar features within active hot spring/geyser discharge channels at El Tatio in northern Chile, where halite-encrusted silica yields infrared spectra that are the best match yet to spectra from Spirit. Furthermore, we show that the nodular and digitate silica structures at El Tatio that most closely resemble those on Mars include complex sedimentary structures produced by a combination of biotic and abiotic processes. Although fully abiotic processes are not ruled out for the Martian silica structures, they satisfy an a priori definition of potential biosignatures.

  6. Exophytic Colon Cancer: Resemblance to a Gastrointestinal Stromal Tumor of the Stomach: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Chul Hi; Kim, Ha Na; Byun, Sung Su; Ha, Seung Yeon [Gachon University of Medicine and Science, Incheon (Korea, Republic of)

    2009-04-15

    An exophytic adenocarcinoma of the colon is very rare with only a few reports to date. To the best of our knowledge, the CT appearance of colon cancer, which simulated the classic appearance of a GIST has only been reported once in the world's literature. We recently evaluated a patient with a large lobulated mass involving the stomach, pancreas and colon. The CT appearance of the case was consistent with the diagnosis of an exophytic gastric GIST. However, at surgery, the patient was found to have a large ulcerated carcinoma of the colon near the splenic flexure that had invaded the stomach and pancreas. We report a case of an exophytic adenocarcinoma of the colon that resembled the classic appearance of a gastrointestinal stromal tumor of the stomach.

  7. A universal, easy-to-apply light-quality index based on natural light spectrum resemblance

    Science.gov (United States)

    Jou, Jwo-Huei; Chou, Kun-Yi; Yang, Fu-Chin; Agrawal, Abhishek; Chen, Sun-Zen; Tseng, Jing-Ru; Lin, Ching-Chiao; Chen, Po-Wei; Wong, Ken-Tsung; Chi, Yun

    2014-05-01

    Light-quality is extremely crucial for any light source to be used for illumination. However, a proper light-quality index is still missing although numerous electricity-driven lighting measures have been introduced since past 150 yr. We present in this communication a universal and easy-to-apply index for quantifying the quality of any given lighting source, which is based on direct comparison of its lumen spectrum with the natural light counterpart having the same color temperature. A general principle for creating high quality pseudo-natural light is accordingly derived. By using organic light-emitting diode technology, for example, daylight-style emission with a 96% natural light resemblance is obtained as a high number of organic emitters with diffused colors spanning throughout the entire visible range are employed. The same principle can be extended to other lighting technology such as light-emitting diode to generate natural light-style emission.

  8. Juvenile nephropathy in a Boxer dog resembling the human nephronophthisis-medullary cystic kidney disease complex.

    Science.gov (United States)

    Basile, Angelo; Onetti-Muda, Andrea; Giannakakis, Konstantinos; Faraggiana, Tullio; Aresu, Luca

    2011-12-01

    A juvenile nephropathy in a 4-year-old male Boxer dog, closely resembling the Nephronophthisis (NPHP)-Medullary Cystic Kidney Disease Complex (MCKD) in humans is described. Gross examination of the kidneys revealed several multiple cysts at the corticomedullary junction and in the medulla. Histological examination was characterized by a widespread tubular atrophy and dilatation, with a marked thickening of the tubular basement membrane, interstitial lymphocytic infiltration and fibrosis. Ultrastructural studies revealed dilated tubules with irregular basement membrane thickening and splitting. Lectin histochemistry investigation revealed that the cysts originated in the distal convoluted tubule and collecting duct. Having excluded all other known cystic diseases of the kidney, and based on the lectin histochemistry results, the macroscopic and histological findings of our case are highly compatible with a diagnosis of the NPHP-MCKD complex. To our knowledge, this is the first report describing this particular lesion.

  9. Westermarck, Freud, and the incest taboo: does familial resemblance activate sexual attraction?

    Science.gov (United States)

    Fraley, R Chris; Marks, Michael J

    2010-09-01

    Evolutionary psychological theories assume that sexual aversions toward kin are triggered by a nonconscious mechanism that estimates the genetic relatedness between self and other. This article presents an alternative perspective that assumes that incest avoidance arises from consciously acknowledged taboos and that when awareness of the relationship between self and other is bypassed, people find individuals who resemble their kin more sexually appealing. Three experiments demonstrate that people find others more sexually attractive if they have just been subliminally exposed to an image of their opposite-sex parent (Experiment 1) or if the face being rated is a composite image based on the self (Experiment 2). This finding is reversed when people are aware of the implied genetic relationship (Experiment 3). These findings have implications for a century-old debate between E. Westermarck and S. Freud, as well as contemporary research on evolution, mate choice, and sexual imprinting.

  10. Menstrual blood closely resembles the uterine immune micro-environment and is clearly distinct from peripheral blood

    NARCIS (Netherlands)

    Molen, R.G. van der; Schutten, J.H.; Cranenbroek, B. van; Meer, M. ter; Donckers, J.; Scholten, R.R.; Heijden, O.W.H. van der; Spaanderman, M.E.A.; Joosten, I.

    2014-01-01

    STUDY QUESTION: Is menstrual blood a suitable source of endometrial derived lymphocytes? SUMMARY ANSWER: Mononuclear cells isolated from menstrual samples (menstrual blood mononuclear cells (MMC)) are clearly distinct from peripheral blood mononuclear cells (PBMC) and show a strong resemblance with

  11. Takotsubo syndrome with transient complete atrioventricular block

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    @@ Takotsubo syndrome (transient left ventricular apical ballooning syndrome) is a novel cardiac syndrome of left ventricular apical ballooning involving reversible left ventricular apical ballooning (during systole) of acute onset with chest pain, electrocardiographic changes, and minimal elevation of cardiac enzymes resembling acute myocardial infarction, but without evidence of myocardial ischemia or injury. Patients have no angiographic evidence of coronary artery stenosis and there is almost always a complete recovery of left ventricular function in days to weeks. The precise etiologic basic of this syndrome is not clear but most likely it is a non-ischemic, metabolic syndrome caused by stress-induced activation of the cardiac adrenoceptors in absence of ischemia and reperfusion.1-3 Reported here is a case of stress-induced transient left ventricular apical ballooning syndrome in an elderly Chinese woman.

  12. Effect of facial self-resemblance on the startle response and subjective ratings of erotic stimuli in heterosexual men.

    Science.gov (United States)

    Lass-Hennemann, Johanna; Deuter, Christian E; Kuehl, Linn K; Schulz, Andre; Blumenthal, Terry D; Schachinger, Hartmut

    2011-10-01

    Cues of kinship are predicted to increase prosocial behavior due to the benefits of inclusive fitness, but to decrease approach motivation due to the potential costs of inbreeding. Previous studies have shown that facial resemblance, a putative cue of kinship, increases prosocial behavior. However, the effects of facial resemblance on mating preferences are equivocal, with some studies finding that facial resemblance decreases sexual attractiveness ratings, while other studies show that individuals choose mates partly on the basis of similarity. To further investigate this issue, a psychophysiological measure of affective processing, the startle response, was used in this study, assuming that differences in approach motivation to erotic pictures will modulate startle. Male volunteers (n = 30) viewed 30 pictures of erotic female nudes while startle eyeblink responses were elicited by acoustic noise probes. The female nude pictures were digitally altered so that the face either resembled the male participant or another participant, or were not altered. Non-nude neutral pictures were also included. Importantly, the digital alteration was undetected by the participants. Erotic pictures were rated as being pleasant and clearly reduced startle eyeblink magnitude as compared to neutral pictures. Participants showed greater startle inhibition to self-resembling than to other-resembling or non-manipulated female nude pictures, but subjective pleasure and arousal ratings did not differ among the three erotic picture categories. Our data suggest that visual facial resemblance of opposite-sex nudes increases approach motivation in men, and that this effect was not due to their conscious evaluation of the erotic stimuli.

  13. Human endomembrane H sup + pump strongly resembles the ATP-synthetase of Archaebacteria

    Energy Technology Data Exchange (ETDEWEB)

    Suedhof, T.C.; Stone, D.K.; Johnston, P.A.; Xie, Xiaosong (Univ. of Texas Southwestern Medical Center, Dallas (USA)); Fried, V.A. (Saint Jude Children' s Research Hospital, Memphis, TN (USA))

    1989-08-01

    Preparations of mammalian H{sup +} pumps that acidify intracellular vesicles contain eight or nine polypeptides, ranging in size from 116 to 17 kDa. Biochemical analysis indicates that the 70- and 58-kDa polypeptides are subunits critical for ATP hydrolysis. The amino acid sequences of the major catalytic subunits (58 and 70 kDa) of the endomembrane H{sup +} pump are unknown from animal cells. The authors report here the complete sequence of the 58-kDa subunit derived from a human kidney cDNA clone and partial sequences of the 70- and 58-kDa subunits purified from clathrin-coated vesicles of bovine brain. The amino acid sequences of both proteins strongly resemble the sequences of the corresponding subunits of the vacuolar H{sup +} pumps of Archaebacteria, plants, and fungi. The archaebacterial enzyme is believed to use a H{sup +} gradient to synthesize ATP. Thus, a common ancestral protein has given rise to a H{sup +} pump that synthesizes ATP in one organism and hydrolyzes it in another and is highly conserved from prokaryotes to humans. The same pump appears to mediate the acidification of intracellular organelles, including coated vesicles, lysosomes, and secretory granules, as well as extracellular fluids such as urine.

  14. Neurogenesis in Aplysia californica resembles nervous system formation in vertebrates. [Sponges

    Energy Technology Data Exchange (ETDEWEB)

    Jacob, M.H.

    1984-05-01

    The pattern of neurogenesis of the central nervous system of Aplysia californica was investigated by (/sup 3/H)thymidine autoradiography. Large numbers of animals at a series of early developmental stages were labeled with (/sup 3/H)thymidine for 24 or 48 hr and were subsequently sampled at specific intervals throughout the life cycle. I found that proliferative zones, consisting of columnar and placodal ectodermal cells, are established in regions of the body wall adjacent to underlying mesodermal cells. Mitosis in the proliferative zones generates a population of cells which leave the surface and migrate inward to join the nearby forming ganglia. Tracing specific (/sup 3/H)thymidine-labeled cells from the body wall to a particular ganglion and within the ganglion over time suggests that the final genomic replication of the neuronal precursors occurs before the cells join the ganglion while glial cell precursors and differentiating glial cells continue to divide within the ganglion for some time. Ultrastructural examination of the morphological features of the few mitosing cells observed within the Aplysia central nervous system supports this interpretation. The pattern of neurogenesis in the Aplysia central nervous system resembles the proliferation of cells in the neural tube and the migration of neural crest and ectodermal placode cells in the vertebrate nervous system but differs from the pattern described for other invertebrates.

  15. Granular cell ameloblastoma: case report of a particular ameloblastoma histologically resembling oncocytoma.

    Science.gov (United States)

    Matsushita, Yuki; Fujita, Shuichi; Kawasaki, Goro; Hirota, Yoshinosuke; Rokutanda, Satoshi; Yamashita, Kentaro; Yanamoto, Souichi; Ikeda, Tohru; Umeda, Masahiro

    2015-01-01

    Granular cell ameloblastoma is classified as a histological subtype of solid/multicystic ameloblastoma. Usual granular cell ameloblastoma is histologically characterized by granular changes of stellate-like cells located in the inner portion of the epithelial follicles. Here we report a case of another type of granular cell ameloblastoma, showing predominant anastomosing double-stranded trabeculae of granular cells. This type of granular cell ameloblastoma is extremely rare, and the World Health Organization classification does not contain the entity. We tentatively termed it 'anastomosing granular cell ameloblastoma' in this report. The present case suggests the importance of differential diagnosis because the histology of 'anastomosing granular cell ameloblastoma' resembles that of salivary gland oncocytoma rather than that of usual granular cell ameloblastoma. The trabeculae observed in our case continued to the peripheral cells of a small amount of epithelial sheets of plexiform ameloblastoma, and the tumor cells were positive for CK19, which is regarded as an immunohistochemical marker of odontogenic epithelium. Similar to usual granular cell ameloblastoma, the tumor cells had CD68-positive granules. For precise diagnosis of this condition, immunohistochemistry using CK19 and CD68, as well as detailed histological observation, are recommended. © 2014 Japanese Society of Pathology and Wiley Publishing Asia Pty Ltd.

  16. Resemblance Coefficient Based Intrapulse Feature Extraction Approach for Radar Emitter Signals

    Institute of Scientific and Technical Information of China (English)

    ZHANGGexiang; JINWeidong; HULaizhao

    2005-01-01

    Radar emitter signal recognition plays an important role in electronic intelligence and electronic support measure systems. To enhance accurate recognition rate of advanced radar emitter signals to meet the requirement of modern electronic warfare, Resemblance coefficient (RC) approach is proposed to extract features from radar emitter signals with different intrapulse modulation laws. Definition of RC is given. Properties and advantages of RC are analyzed. Feature extraction algorithm using RC is described in detail. The noise-suppression performances of RC features are also analyzed. Subsequently, neural networks are used to design classifiers. Because RC contains the change and distribution information of amplitude, phase and frequency of radar emitter signals, RC can reflect the intrapulse modulation laws effectively. The results of theoretical analysis and simulation experiments show that RC features have good characteristic of not being sensitive to noise. 9 radar emitter signals are chosen to make the experiment of RC feature extraction and automatic recognition. A large number of experimental results show that good accurate recognition rate can be achieved using the proposed approach. It is proved to be a valid and practical approach.

  17. Loss of epidermal Evi/Wls results in a phenotype resembling psoriasiform dermatitis.

    Science.gov (United States)

    Augustin, Iris; Gross, Julia; Baumann, Daniel; Korn, Claudia; Kerr, Grainne; Grigoryan, Tamara; Mauch, Cornelia; Birchmeier, Walter; Boutros, Michael

    2013-08-26

    Cells of the epidermis renew constantly from germinal layer stem cells. Although epithelial cell differentiation has been studied in great detail and the role of Wnt signaling in this process is well described, the contribution of epidermal Wnt secretion in epithelial cell homeostasis remains poorly understood. To analyze the role of Wnt proteins in this process, we created a conditional knockout allele of the Wnt cargo receptor Evi/Gpr177/Wntless and studied mice that lacked Evi expression in the epidermis. We found that K14-Cre, Evi-LOF mice lost their hair during the first hair cycle, showing a reddish skin with impaired skin barrier function. Expression profiling of mutant and wild-type skin revealed up-regulation of inflammation-associated genes. Furthermore, we found that Evi expression in psoriatic skin biopsies is down-regulated, suggesting that Evi-deficient mice developed skin lesions that resemble human psoriasis. Immune cell infiltration was detected in Evi-LOF skin. Interestingly, an age-dependent depletion of dendritic epidermal T cells (DETCs) and an infiltration of γδ(low) T cells in Evi mutant epidermis was observed. Collectively, the described inflammatory skin phenotype in Evi-deficient mice revealed an essential role of Wnt secretion in maintaining normal skin homeostasis by enabling a balanced epidermal-dermal cross talk, which affects immune cell recruitment and DETC survival.

  18. The adult macaque spinal cord central canal zone contains proliferative cells and closely resembles the human.

    Science.gov (United States)

    Alfaro-Cervello, Clara; Cebrian-Silla, Arantxa; Soriano-Navarro, Mario; Garcia-Tarraga, Patricia; Matías-Guiu, Jorge; Gomez-Pinedo, Ulises; Molina Aguilar, Pilar; Alvarez-Buylla, Arturo; Luquin, Maria-Rosario; Garcia-Verdugo, Jose Manuel

    2014-06-01

    The persistence of proliferative cells, which could correspond to progenitor populations or potential cells of origin for tumors, has been extensively studied in the adult mammalian forebrain, including human and nonhuman primates. Proliferating cells have been found along the entire ventricular system, including around the central canal, of rodents, but little is known about the primate spinal cord. Here we describe the central canal cellular composition of the Old World primate Macaca fascicularis via scanning and transmission electron microscopy and immunohistochemistry and identify central canal proliferating cells with Ki67 and newly generated cells with bromodeoxyuridine incorporation 3 months after the injection. The central canal is composed of uniciliated, biciliated, and multiciliated ependymal cells, astrocytes, and neurons. Multiciliated ependymal cells show morphological characteristics similar to multiciliated ependymal cells from the lateral ventricles, and uniciliated and biciliated ependymal cells display cilia with large, star-shaped basal bodies, similar to the Ecc cells described for the rodent central canal. Here we show that ependymal cells with one or two cilia, but not multiciliated ependymal cells, proliferate and give rise to new ependymal cells that presumably remain in the macaque central canal. We found that the infant and adult human spinal cord contains ependymal cell types that resemble those present in the macaque. Interestingly, a wide hypocellular layer formed by bundles of intermediate filaments surrounded the central canal both in the monkey and in the human, being more prominent in the stenosed adult human central canal.

  19. Uterine tumor resembling ovarian sex cord tumor. Case report and review of literature.

    Science.gov (United States)

    Stefanovic, A; Jeremic, K; Kadija, S; Mitrovic, M; Filimonovic, D; Jankovic-Raznatovic, S; Tavcar, J

    2013-01-01

    A uterine tumor resembling an ovarian sex cord tumor (UTROSCT) shows a poly phenotypic immunophenotype with coexpression of epithelial, myoid, and sex cord markers, as well as hormone receptors. The authors present a case of a 59-year-old multiparous woman admitted to the Institute of Gynecology and Obstetrics Clinical Centre of Serbia in January 2010 due to prolonged vaginal bleeding and abdominal discomfort. The vaginal ultrasound showed an enlarged uterus size of 100 x 74 x 81 mm, with extended cavity with an unhomogenic content and myomas sized 54 x 69 mm located in fundus with secondary changes. She underwent abdominal hysterectomy with adnexectomy. Microscopic examination revealed submucosal uterine tumor with variabile histological organization that had anastomotic trabeculae with solid cellular grupations. Rare mitotic figures (2/10 HPF) were found. Additional imunohistochemistry showed immunophenotype: the sex cord areas were positive for vimentin(++), aSMA(++), AE1/AE3(+), PR(+), and ER(+). The poly phenotypic immunophenotype can be useful in differential diagnosis from other neoplasms but also suggests an origin of UTROSCT from uncommitted stem cell enabling for multidirectional differentiation.

  20. Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17

    Directory of Open Access Journals (Sweden)

    Nitrini Ricardo

    2001-01-01

    Full Text Available OBJECTIVE: To compare the clinical features of a familial prion disease with those of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17. BACKGROUND: Prion diseases are not usually considered in the differential diagnosis of FTDP-17, since familial Creutzfeldt-Jakob disease (CJD, the most common inherited prion disease, often manifests as a rapidly progressive dementia. Conversely, FTDP-17 usually has an insidious onset in the fifth decade, with abnormal behavior and parkinsonian features. METHOD: We present the clinical features of 12 patients from a family with CJD associated with a point mutation at codon 183 of the prion protein gene. RESULTS: The mean age at onset was 44.0 ± 3.7; the duration of the symptoms until death ranged from two to nine years. Behavioral disturbances were the predominant presenting symptoms. Nine patients were first seen by psychiatrists. Eight patients manifested parkinsonian signs. CONCLUSION: These clinical features bear a considerable resemblance to those described in FTDP-17.

  1. Ad-hoc KEEN-type Waves and their Occasional Resemblance to KdV Waveforms

    Science.gov (United States)

    Tyshetskiy, Yuriy; Afeyan, Bedros

    2005-10-01

    Nonlinear kinetic waves of the KEEN type [1] but constructed with two BGK recipes are tested with 1D Vlasov-Poisson simulation (1DVPS). One is that of Allis [2] as modified by Johnston (unpublished), the other is that of Eliasson and Shukla [3]. Strong kinetic waves survive well, but not weaker ones. The potential wave trains resemble those from the Korteweg-deVries equation. This proves to be natural when charge density variation with electrostatic potential is like a quadratic polynomial. For expositions on the physics of ponderomotively driven KEEN waves, consult presentations by Afeyan and Savchenko, this conference. (Part of this work was performed under the auspices of the U.S. Department of Energy under grant number DE-FG03-NA00059.) [1] B. Afeyan et al., ``Kinetic Electrostatic Electron Nonlinear (KEEN) Waves and their interactions driven by the ponderomotive force of crossing laser beams'', Proc. IFSA (Inertial Fusion Sciences and Applications 2003, Monterey, CA), 213, B. Hammel, D. Meyerhofer, J. Meyer-ter-Vehn and H. Azechi, editors, American Nuclear Society, 2004. [2] W.P. Allis, paper 3 (pp.21-42), in ``In Honor of Philip M. Morse'', ed. H. Feshbach and K. Ingard, MIT Press (1969). [3] B. Eliasson and P.K. Shukla, Phys. Rev. E 71, 046402 (2005)

  2. The heat-pipe resembling action of boiling bubbles in endovenous laser ablation

    Science.gov (United States)

    van den Bos, Renate R.; van Ruijven, Peter W. M.; Nijsten, Tamar; Neumann, H. A. Martino; van Gemert, Martin J. C.

    2010-01-01

    Endovenous laser ablation (EVLA) produces boiling bubbles emerging from pores within the hot fiber tip and traveling over a distal length of about 20 mm before condensing. This evaporation-condensation mechanism makes the vein act like a heat pipe, where very efficient heat transport maintains a constant temperature, the saturation temperature of 100°C, over the volume where these non-condensing bubbles exist. During EVLA the above-mentioned observations indicate that a venous cylindrical volume with a length of about 20 mm is kept at 100°C. Pullback velocities of a few mm/s then cause at least the upper part of the treated vein wall to remain close to 100°C for a time sufficient to cause irreversible injury. In conclusion, we propose that the mechanism of action of boiling bubbles during EVLA is an efficient heat-pipe resembling way of heating of the vein wall. PMID:20644976

  3. Primary uterine cervix melanoma resembling malignant peripheral nerve sheath tumor: a case report.

    Science.gov (United States)

    Pusceddu, Sara; Bajetta, Emilio; Buzzoni, Roberto; Carcangiu, Maria Luisa; Platania, Marco; Del Vecchio, Michele; Ditto, Antonino

    2008-10-01

    A rare variant of malignant melanoma (MM) of the uterine cervix that mimics a malignant peripheral nerve sheath tumor (MPNST) is described. A 43-year-old white woman was admitted to the hospital complaining of genital discharge and vaginal bleeding. Neoadjuvant chemotherapy and total abdominal hysterectomy and bilateral salpingo-ovariectomy plus pelvic lymphadenectomy were performed, and the diagnosis was MPNST, FIGO IIB. Pathological examination showed a diffuse proliferation of amelanotic spindle cells and large, highly atypical, frequently multinucleated, bizarre, and S100-, HMB-45-, vimentin-positive cells. The patient remained disease-free for 43 months, when an abdominal computed tomographic scan showed local polypoid vaginal lesions, with histological features of typical MM. A pathological review was obtained in our institution by a gynecological pathologist, who defined the primary neoplasm in the cervix as an MM, with a pattern of growth histologically simulating an MPNST, metastatic to the vagina. To our knowledge, this is the first report in literature of MM of the uterine cervix resembling MPNST. Despite its rarity, this variant of MM should be considered when a diagnosis of cervix MPNST is made. The histological and immunohistochemical features of these different entities should be considered in the differential diagnosis.

  4. Manothermosonication of foods and food-resembling systems: effect on nutrient content and nonenzymatic browning.

    Science.gov (United States)

    Vercet, A; Burgos, J; López-Buesa, P

    2001-01-01

    The effect of manothermosonication (MTS), an emergent technology for food preservation, on thiamin, riboflavin, carotenoids, and ascorbic acid was evaluated in milk and orange juice. The effect of both heat treatment and MTS on several compounds produced in nonenzymatic browning in model systems was also studied. MTS does not affect significantly the nutrient content studied. However, it changes the behavior of nonenzymatic browning. No formation of 5-(hydroxymethyl)-2-furfuraldehyde (HMF) was detected in fruit juice model systems after heat and MTS treatments at the experimental conditions used. In a milk-resembling system, free HMF formation by MTS is higher compared to that by heat treatment. As the MTS temperature increases, free HMF production by both treatments equaled on another. For bound HMF the production rate is lower by MTS than by heat treatment under the experimental conditions used. Formation kinetics of brown pigments and that of fluorescent compounds are different for both treatments. Fluorescence and brown pigment production are faster in MTS.

  5. Digital redesign of uncertain interval systems based on time-response resemblance via particle swarm optimization.

    Science.gov (United States)

    Hsu, Chen-Chien; Lin, Geng-Yu

    2009-07-01

    In this paper, a particle swarm optimization (PSO) based approach is proposed to derive an optimal digital controller for redesigned digital systems having an interval plant based on time-response resemblance of the closed-loop systems. Because of difficulties in obtaining time-response envelopes for interval systems, the design problem is formulated as an optimization problem of a cost function in terms of aggregated deviation between the step responses corresponding to extremal energies of the redesigned digital system and those of their continuous counterpart. A proposed evolutionary framework incorporating three PSOs is subsequently presented to minimize the cost function to derive an optimal set of parameters for the digital controller, so that step response sequences corresponding to the extremal sequence energy of the redesigned digital system suitably approximate those of their continuous counterpart under the perturbation of the uncertain plant parameters. Computer simulations have shown that redesigned digital systems incorporating the PSO-derived digital controllers have better system performance than those using conventional open-loop discretization methods.

  6. Transformation of Face Transplants: Volumetric and Morphologic Graft Changes Resemble Aging After Facial Allotransplantation.

    Science.gov (United States)

    Kueckelhaus, M; Turk, M; Kumamaru, K K; Wo, L; Bueno, E M; Lian, C G; Alhefzi, M; Aycart, M A; Fischer, S; De Girolami, U; Murphy, G F; Rybicki, F J; Pomahac, B

    2016-03-01

    Facial allotransplantation restores normal anatomy to severely disfigured faces. Although >30 such operations performed worldwide have yielded promising short-term results, data on long-term outcomes remain scarce. Three full-face transplant recipients were followed for 40 months. Severe changes in volume and composition of the facial allografts were noted. Data from computed tomography performed 6, 18 and 36 months after transplantation were processed to separate allograft from recipient tissues and further into bone, fat and nonfat soft tissues. Skin and muscle biopsies underwent diagnostic evaluation. All three facial allografts sustained significant volume loss (mean 19.55%) between 6 and 36 months after transplant. Bone and nonfat soft tissue volumes decreased significantly over time (17.22% between months 6 and 18 and 25.56% between months 6 and 36, respectively), whereas fat did not. Histological evaluations showed atrophy of muscle fibers. Volumetric and morphometric changes in facial allografts have not been reported previously. The transformation of facial allografts in this study resembled aging through volume loss but differed substantially from regular aging. These findings have implications for risk-benefit assessment, donor selection and measures counteracting muscle and bone atrophy. Superior long-term outcomes of facial allotransplantation will be crucial to advance toward future clinical routine.

  7. On Learning Natural-Science Categories That Violate the Family-Resemblance Principle.

    Science.gov (United States)

    Nosofsky, Robert M; Sanders, Craig A; Gerdom, Alex; Douglas, Bruce J; McDaniel, Mark A

    2017-01-01

    The general view in psychological science is that natural categories obey a coherent, family-resemblance principle. In this investigation, we documented an example of an important exception to this principle: Results of a multidimensional-scaling study of igneous, metamorphic, and sedimentary rocks (Experiment 1) suggested that the structure of these categories is disorganized and dispersed. This finding motivated us to explore what might be the optimal procedures for teaching dispersed categories, a goal that is likely critical to science education in general. Subjects in Experiment 2 learned to classify pictures of rocks into compact or dispersed high-level categories. One group learned the categories through focused high-level training, whereas a second group was required to simultaneously learn classifications at a subtype level. Although high-level training led to enhanced performance when the categories were compact, subtype training was better when the categories were dispersed. We provide an interpretation of the results in terms of an exemplar-memory model of category learning.

  8. Does the calcification of adamantinomatous craniopharyngioma resemble the calcium deposition of osteogenesis/odontogenesis?

    Science.gov (United States)

    Song-Tao, Qi; Xiao-Rong, Yan; Jun, Pan; Yong-Jian, Deng; Jin, Liang; Guang-Long, Huang; Yun-Tao, Lu; Jian, Ruan; Xiang-Zhao, Li; Jia-Ming, Xu

    2014-02-01

    Calcification in adamantinomatous craniopharyngioma (ACP) is troublesome for surgical intervention. The aim of this study was to examine the osteogenic proteins that play important roles in the calcium deposition of the odontogenic/osteogenic tissues in craniopharyngioma. Craniopharyngiomas (n = 89) were investigated for the presence and expression pattern of the osteoinductive/odontoinductive factor bone morphogenetic protein-2 (Bmp2) and two osteoblastic differentiation makers, Runt-related transcription factor-2 (Runx2) and Osterix, using immunohistochemistry and Western blotting. Our results showed that Bmp2, Runx2 and Osterix levels increased in cases with high calcification and correlated positively with the degree of calcification in ACP, whereas they showed little or no expression in squamous papillary craniopharyngioma. In ACP, Bmp2 was expressed primarily in the stellate reticulum and whorl-like array cells; Runx2 and Osterix tended to be expressed in calcification-related epithelia, including whorl-like array cells and epithelia in/around wet keratin and calcification lesions. Our study indicated, for the first time, that osteogenic factor Bmp2 may play an important role in the calcification of ACP via autocrine or paracrine mechanisms. Given the presence of osteogenic markers (Runx2 and Osterix), craniopharyngioma cells could differentiate into an osteoblast-like lineage, and the process of craniopharyngioma calcification resembles that which occurs in osteogenesis/odontogenesis. © 2014 John Wiley & Sons Ltd.

  9. Frosted Branch Angiitis Secondary to Familial Mediterranean Fever Resembling Central Retinal Vein Occlusion

    Directory of Open Access Journals (Sweden)

    Serdar Ozates

    2016-01-01

    Full Text Available Purpose. To report a case of unilateral frosted branch angiitis (FBA resembling central retinal vein occlusion associated with Familial Mediterranean Fever (FMF. Case Report. A 32-year-old woman presented with progressive, painless vision loss in her left eye lasting for 2 days. She was clinically diagnosed with FMF 2 months ago. The best-corrected visual acuity (BCVA was 20/20 in her right eye and there was light perception in the left. Ophthalmologic examination revealed severe retinal vasculitis showing clinical features of FBA in the left eye. 64 mg/day oral methylprednisolone was started. A significant improvement in retinal vasculitis was observed in two weeks. However, BCVA did not increase significantly due to subhyaloid premacular hemorrhage. Argon laser posterior hyaloidotomy was performed. One week after hyaloidotomy, visual acuity improved to 20/20 and intravitreal hemorrhage disappeared. Four months after the first attack, FBA recurred. Oral methylprednisolone dosage was increased to 64 mg/day and combined with azathioprine 150 mg. At the end of 12-month follow-up, the BCVA was 20/25 and development of epiretinal membrane was observed in the left eye. Conclusions. Frosted branch angiitis may occur with gene abnormalities as an underlying condition. Our case showed that FMF might be a causative disease.

  10. Scimitar syndrome and evolution of managements

    Directory of Open Access Journals (Sweden)

    Hadi Kahrom

    2009-12-01

    Full Text Available The Scimitar syndrome is a rare congenital anomaly that consists in part of total or partial anomalous venous drainage of the right lung to the inferior vena cava (IVC. This descending vein is visible on CXR as a curvilinear density along the right heart border and resembles the curved Turkish sword that gives the condition its name. Scimitar syndrome forms part of the large spectrum of associated conditions known as venolobar syndrome. These include right lung hypoplasia or sequestered segments of the right lung, congenital heart disease and various others. Surgical approaches to the Scimitar syndrome have varied according to the anatomic and pathologic features presented in each case. Here we review the clinical signs and symptoms, diagnostic dilemmas, current medical and surgical managements of Scimitar syndrome.

  11. Metabolic Syndrome

    Science.gov (United States)

    ... hypertension, hypertriglyceridemia, insulin resistance syndrome, low HDL cholesterol, Metabolic Syndrome, overweight, syndrome x, type 2 diabetes Family Health, Kids and Teens, Men, Women January 2005 Copyright © American Academy of Family PhysiciansThis ...

  12. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, ...

  13. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  14. Fahr's Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Fahr's Syndrome Information Page Fahr's Syndrome Information Page What research is being done? ... and conducts research on neurogenetic disorders such as Fahr's Syndrome. The goals of this research are to ...

  15. Staphylococcus pseudintermedius expresses surface proteins that closely resemble those from Staphylococcus aureus.

    Science.gov (United States)

    Geoghegan, Joan A; Smith, Emma J; Speziale, Pietro; Foster, Timothy J

    2009-09-18

    Staphylococcus pseudintermedius is a commensal of dogs that is implicated in the pathogenesis of canine pyoderma. This study aimed to determine if S. pseudintermedius expresses surface proteins resembling those from Staphylococcus aureus and to characterise them. S. pseudintermedius strain 326 was shown to adhere strongly to purified fibrinogen, fibronectin and cytokeratin 10. It adhered to the alpha-chain of fibrinogen which, along with binding to cytokeratin 10, is the hallmark of clumping factor B of S. aureus, a surface protein that is in part responsible for colonisation of the human nares. Ligand-affinity blotting with cell-wall extracts demonstrated that S. pseudintermedius 326 expressed a cell-wall anchored fibronectin binding protein which recognised the N-terminal 29kDa fragment. The ability to bind fibronectin is an important attribute of pathogenic S. aureus and is associated with the ability of S. aureus to colonise skin of human atopic dermatitis patients. S. pseudintermedius genomic DNA was probed with labelled DNA amplified from the serine-aspartate repeat encoding region of clfA of S. aureus. This probe hybridised to a single SpeI fragment of S. pseudintermedius DNA. In the cell-wall extract of S. pseudintermedius 326, a 180kDa protein was discovered which bound to fibrinogen by ligand-affinity blotting and reacted in a Western blot with antibodies raised against the serine-aspartate repeat region of ClfA and the B-repeats of SdrD of S. aureus. It is proposed that this is an Sdr protein with B-repeats that has an A domain that binds to fibrinogen. Whether it is the same protein that binds cytokeratin 10 is not clear.

  16. Metabolism of a Lipid Nanoemulsion Resembling Low-Density Lipoprotein in Patients with Grade III Obesity

    Science.gov (United States)

    Dantas, Simone Alves; Ficker, Elisabeth Salvatori; Vinagre, Carmen G. C.; Ianni, Barbara Maria; Maranhão, Raul Cavalcante; Mady, Charles

    2010-01-01

    INTRODUCTION: Obesity increases triglyceride levels and decreases high-density lipoprotein concentrations in plasma. Artificial emulsions resembling lipidic plasma lipoprotein structures have been used to evaluate low-density lipoprotein metabolism. In grade III obesity, low density lipoprotein metabolism is poorly understood. OBJECTIVE: To evaluate the kinetics with which a cholesterol-rich emulsion (called a low-density emulsion) binds to low-density lipoprotein receptors in a group of patients with grade III obesity by the fractional clearance rate. METHODS: A low-density emulsion was labeled with [14C]-cholesterol ester and [3H]-triglycerides and injected intravenously into ten normolipidemic non-diabetic patients with grade III obesity [body mass index higher than 40 kg/m2] and into ten non-obese healthy controls. Blood samples were collected over 24 hours to determine the plasma decay curve and to calculate the fractional clearance rate. RESULTS: There was no difference regarding plasma levels of total cholesterol or low-density lipoprotein cholesterol between the two groups. The fractional clearance rate of triglycerides was 0.086 ± 0.044 in the obese group and 0.122 ± 0.026 in the controls (p = 0.040), and the fractional clearance rate of cholesterol ester (h−1) was 0.052 ± 0.021 in the obese subjects and 0.058 ± 0.015 (p = 0.971) in the controls. CONCLUSION: Grade III obese subjects exhibited normal low-density lipoprotein removal from plasma as tested by the nanoemulsion method, but triglyceride removal was slower. PMID:20126342

  17. Simultaneous compression and encryption of closely resembling images: application to video sequences and polarimetric images.

    Science.gov (United States)

    Aldossari, M; Alfalou, A; Brosseau, C

    2014-09-22

    This study presents and validates an optimized method of simultaneous compression and encryption designed to process images with close spectra. This approach is well adapted to the compression and encryption of images of a time-varying scene but also to static polarimetric images. We use the recently developed spectral fusion method [Opt. Lett.35, 1914-1916 (2010)] to deal with the close resemblance of the images. The spectral plane (containing the information to send and/or to store) is decomposed in several independent areas which are assigned according a specific way. In addition, each spectrum is shifted in order to minimize their overlap. The dual purpose of these operations is to optimize the spectral plane allowing us to keep the low- and high-frequency information (compression) and to introduce an additional noise for reconstructing the images (encryption). Our results show that not only can the control of the spectral plane enhance the number of spectra to be merged, but also that a compromise between the compression rate and the quality of the reconstructed images can be tuned. We use a root-mean-square (RMS) optimization criterion to treat compression. Image encryption is realized at different security levels. Firstly, we add a specific encryption level which is related to the different areas of the spectral plane, and then, we make use of several random phase keys. An in-depth analysis at the spectral fusion methodology is done in order to find a good trade-off between the compression rate and the quality of the reconstructed images. Our new proposal spectral shift allows us to minimize the image overlap. We further analyze the influence of the spectral shift on the reconstructed image quality and compression rate. The performance of the multiple-image optical compression and encryption method is verified by analyzing several video sequences and polarimetric images.

  18. Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.

    NARCIS (Netherlands)

    Heer, A.M. de; Merchant, S.N.; Kammeraad, J.A.; Cruysberg, J.R.M.; Huygen, P.L.M.; Cremers, C.W.R.J.

    2012-01-01

    The Nathalie syndrome (OMIM 255990) comprises a combination of features that do not resemble any other known syndrome and is as such an independent, rare entity. It is characterized by sensorineural hearing impairment, juvenile cataract, spinal muscular atrophy, skeletal abnormalities, retardation o

  19. The metabolic syndrome in long-term cancer survivors, an important target for secondary preventive measures

    NARCIS (Netherlands)

    Nuver, J; Smit, AJ; Postma, A; Sleijfer, DT; Gietema, JA

    2002-01-01

    With increasing numbers of cancer survivors, attention has been drawn to long-term complications of curative cancer treatment, including a range of metabolic disorders. These metabolic disorders often resemble the components of the so-called metabolic syndrome, or syndrome X, which is an important r

  20. Hypokalemic periodic paralysis, facial dysmorphism and ventricular arrhythmia (clinical triad of Andersen-Tawil syndrome).

    Science.gov (United States)

    Thakkar, Mitesh; Biswas, T K; Desle, Hrishikesh B

    2012-11-01

    Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead). We report a case of hypokalemic periodic paralysis with dysmorphic facial features and ventricular arrhythmia resembling Andersen-Tawil syndrome.

  1. NALCN ion channels have alternative selectivity filters resembling calcium channels or sodium channels.

    Directory of Open Access Journals (Sweden)

    Adriano Senatore

    Full Text Available NALCN is a member of the family of ion channels with four homologous, repeat domains that include voltage-gated calcium and sodium channels. NALCN is a highly conserved gene from simple, extant multicellular organisms without nervous systems such as sponges and placozoans and mostly remains a single gene compared to the calcium and sodium channels which diversified into twenty genes in humans. The single NALCN gene has alternatively-spliced exons at exons 15 or exon 31 that splices in novel selectivity filter residues that resemble calcium channels (EEEE or sodium channels (EKEE or EEKE. NALCN channels with alternative calcium, (EEEE and sodium, (EKEE or EEKE -selective pores are conserved in simple bilaterally symmetrical animals like flatworms to non-chordate deuterostomes. The single NALCN gene is limited as a sodium channel with a lysine (K-containing pore in vertebrates, but originally NALCN was a calcium-like channel, and evolved to operate as both a calcium channel and sodium channel for different roles in many invertebrates. Expression patterns of NALCN-EKEE in pond snail, Lymnaea stagnalis suggest roles for NALCN in secretion, with an abundant expression in brain, and an up-regulation in secretory organs of sexually-mature adults such as albumen gland and prostate. NALCN-EEEE is equally abundant as NALCN-EKEE in snails, but is greater expressed in heart and other muscle tissue, and 50% less expressed in the brain than NALCN-EKEE. Transfected snail NALCN-EEEE and NALCN-EKEE channel isoforms express in HEK-293T cells. We were not able to distinguish potential NALCN currents from background, non-selective leak conductances in HEK293T cells. Native leak currents without expressing NALCN genes in HEK-293T cells are NMDG(+ impermeant and blockable with 10 µM Gd(3+ ions and are indistinguishable from the hallmark currents ascribed to mammalian NALCN currents expressed in vitro by Lu et al. in Cell. 2007 Apr 20;129(2:371-83.

  2. Synovial histopathology of psoriatic arthritis, both oligo- and polyarticular, resembles spondyloarthropathy more than it does rheumatoid arthritis

    NARCIS (Netherlands)

    Kruithof, E; Baeten, D; De Rycke, L; Vandooren, B; Foell, D; Roth, J; Canete, JD; Boots, AM; Veys, EM; De Keyser, F

    2005-01-01

    At present only few biological data are available to indicate whether psoriatic arthritis (PsA) is part of the spondyloarthropathy (SpA) concept, whether it is a separate disease entity or a heterogeneous disease group with oligoarticular/ axial forms belonging to SpA and polyarticular forms resembl

  3. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary

    2017-01-01

    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  4. Age and Gender Differences in Facial Attractiveness, but Not Emotion Resemblance, Contribute to Age and Gender Stereotypes

    Directory of Open Access Journals (Sweden)

    Rocco Palumbo

    2017-09-01

    Full Text Available Considerable research has shown effects of facial appearance on trait impressions and group stereotypes. We extended those findings in two studies that investigated the contribution of resemblance to emotion expressions and attractiveness to younger adults (YA and older adults (OA age and gender stereotypes on the dimensions of warmth and competence. Using connectionist modeling of facial metrics of 240 neutral younger and older faces, Study 1 found that, neutral expression older faces or female faces showed greater structural resemblance to happy expressions and less resemblance to angry expressions than did younger or male faces, respectively. In addition, neutral female faces showed greater resemblance to surprise expressions. In Study 2, YA and OA rated the faces of Study 1 for attractiveness and for 4 traits that we aggregated on the dimensions of competence (competent, healthy and warmth (trustworthy, not shrewd. We found that YA, but not OA, age stereotypes replicated previous research showing higher perceived warmth and lower perceived competence in older adults. In addition, previously documented gender stereotypes were moderated by face age for both YA and OA. The greater attractiveness of younger than older faces and female than male faces influenced age and gender stereotypes, including these deviations from prior research findings using category labels rather than faces. On the other hand, face age and face sex differences in emotion resemblance did not influence age or gender stereotypes, contrary to prediction. Our results provide a caveat to conclusions about age and gender stereotypes derived from responses to category labels, and they reveal the importance of assessing stereotypes with a methodology that is sensitive to influences of group differences in appearance that can exacerbate or mitigate stereotypes in more ecologically valid contexts. Although the gender differences in attractiveness in the present study may not have

  5. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  6. Episodic Muscle Tremors in a Quarter Horse: Resemblance to Hyperkalemic Periodic Paralysis

    Science.gov (United States)

    Steiss, Janet E.; Naylor, Jonathan M.

    1986-01-01

    A three year old Quarter Horse stallion was presented with a one year history of episodes of generalized muscle tremors and stiffness, and spasm of the muscles of facial expression, lasting 10-15 minutes. Between attacks, the horse was either normal or had a localized muscle tremor in the flank region. Episodes appeared unrelated to exercise. The major abnormal findings included 1) a rise in plasma potassium from a resting level of 4.4 to 7.9 mmol/L during an attack and 2) electromyographic findings of generalized increased insertion activity and myotonic discharges. The horse was treated with hydrochlorothiazide tablets for nine months, during which time no further attacks were noted. However, four months after the drug was stopped, sporadic focal muscle tremors reappeared; two months later, generalized attacks were seen. Despite reinstitution of the diuretic, a focal flank tremor persisted. Two related horses in the same stable also were reported by the owner to exhibit sporadic generalized muscle twitching. The abnormal findings of the present case differ from clinical syndromes previously reported in horses. Some similarities to hyperkalemic periodic paralysis in humans are noted. PMID:17422693

  7. Case Report of a Satin Guinea Pig with Fibrous Osteodystrophy That Resembles Human Pseudohypoparathyroidism

    Directory of Open Access Journals (Sweden)

    Miguel Gallego

    2017-01-01

    Full Text Available A case report of a 2-year-old female satin guinea pig with a history of dental overgrowth and lameness and radiological lesions of fibrous osteodystrophy is presented. The most relevant clinical findings were bone demineralization, high level of parathyroid hormone (PTH, normophosphatemia, normal ionized calcium, and low total thyroxine (tT4 with a normal renal function. Long-term treatment was based on teeth coronal reduction and maintaining a balanced diet. PTH measurement was performed with a kit suitable for rats to test 4 different paired samples of guinea pigs and resulted in similar results for each pair of measurements. Two kits routinely employed in dogs and cats failed in measuring PTH in guinea pig serum samples. The ionized calcium, PTH, and tT4 values, not previously reported in similar cases, were obtained. The determination of tT4 could be useful in the diagnosis of fibrous osteodystrophy in guinea pigs. The observed findings show similarity with human pseudohypoparathyroidism type Ia, a disease caused by an inactivating heterozygous mutation of the stimulatory G protein α subunit from the maternal genome that induces multiple hormone resistance and that courses with a syndrome called Albright hereditary osteodystrophy. Naturally occurring pseudohypoparathyroidism in animals has been reported previously only in a ferret.

  8. Aortic root vasculitis associated with Cogan's syndrome.

    Science.gov (United States)

    Gasparovic, Hrvoje; Djuric, Zeljko; Bosnic, Dubravka; Petricevic, Mate; Brida, Margita; Dotlic, Snjezana; Biocina, Bojan

    2011-07-01

    Cogan's syndrome is characterized by nonsyphilitic interstitial keratitis and an audiovestibular disorder resembling Meniere disease. We report a patient with progressive congestive heart failure due to massive aortic and mitral insufficiency coupled with aortitis leading to an ascending aortic aneurysm. The patient underwent successful aortic root replacement and mitral valve repair. Copyright © 2011 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  9. Increased circulating apoptotic lymphocytes in children with Down syndrome

    NARCIS (Netherlands)

    Gemen, E.F.A.; Verstegen, R.H.J.; Leuvenink, J.; Vries, E. de

    2012-01-01

    Down syndrome (DS) resembles immunodeficiency with increased infections, auto-immune diseases, and hematological malignancies. Until now, immunological studies in DS mainly focused on T-lymphocytes. We recently described a profound B-lymphocytopenia in children with DS. This could be caused by incre

  10. Increased circulating apoptotic lymphocytes in children with Down syndrome

    NARCIS (Netherlands)

    Gemen, E.F.A.; Verstegen, R.H.J.; Leuvenink, J.; Vries, E. de

    2012-01-01

    Down syndrome (DS) resembles immunodeficiency with increased infections, auto-immune diseases, and hematological malignancies. Until now, immunological studies in DS mainly focused on T-lymphocytes. We recently described a profound B-lymphocytopenia in children with DS. This could be caused by

  11. Osteoporosis-pseudoglioma syndrome in South Africa.

    Science.gov (United States)

    Chetty, M; Stephen, L X G; Roberts, T

    2016-05-25

    The osteoporosis-pseudoglioma syndrome (MIM 259770) is a rare autosomal recessive disorder in which bone fragility and frequent fractures are associated with serious ocular changes. The skeletal manifestations resemble those of osteogenesis imperfecta while hyperplasia of the vitreous, eye and corneal opacities often mimics the appearance of intraocular glioma. This disorder was previously reported in a South African family of Indian stock as 'the ocular form of osteogenesis imperfecta'. Terminological discussion followed and it was suggested that these individuals had osteoporosis-pseudoglioma syndrome. This article describes and depicts the manifestations of the disorder and discusses the nosology.

  12. Disruption of the ugt1 locus in mice resembles human Crigler-Najjar type I disease.

    Science.gov (United States)

    Nguyen, Nghia; Bonzo, Jessica A; Chen, Shujuan; Chouinard, Sarah; Kelner, Michael J; Hardiman, Gary; Bélanger, Alain; Tukey, Robert H

    2008-03-21

    The 9 UDP-glucuronosyltranferases (UGTs) encoded by the UGT1 locus in humans are key enzymes in the metabolism of most drugs as well as endogenous substances such as bile acids, fatty acids, steroids, hormones, neurotransmitters, and bilirubin. Severe unconjugated hyperbilirubinemia in humans that suffer from Crigler-Najjar type I disease results from lesions in the UGT1A1 gene and is often fatal. To examine the physiological importance of the Ugt1 locus in mice, this locus was rendered non-functional by interrupting exon 4 to create Ugt1(-/-) mice. Because UGT1A1 in humans is responsible for 100% of the conjugated bilirubin, it followed that newborn Ugt1(-/-) mice developed serum levels of unconjugated bilirubin that were 40-60 times higher than Ugt1(+/-) or wild-type mice. The result of extreme unconjugated bilirubin in Ugt1(-/-) mice, comparable to the induced levels noted in patients with Crigler-Najjar type 1 disease, is fatal in neonatal Ugt1(-/-) mice within 2 weeks following birth. The extreme jaundice is present as a phenotype in skin color after 8 h. Neonatal Ugt1(-/-) mice exhibit no detectable UGT1A-specific RNA, which corresponds to a complete absence of UGT1A proteins in liver microsomes. Conserved glucuronidation activity attributed to the Ugt1 locus can be defined in Ugt1(-/-) mice, because UGT2-dependent glucuronidation activity is unaffected. Remarkably, the loss of UGT1A functionality in liver results in significant alterations in cellular metabolism as investigated through changes in gene expression. Thus, the loss of UGT1A function in Ugt1(-/-) mice leads to a metabolic syndrome that can serve as a model to further investigate the toxicities associated with unconjugated bilirubin and the impact of this disease in humans.

  13. Autoimmune diseases in women with Turner's syndrome

    DEFF Research Database (Denmark)

    Jørgensen, Kristian T; Rostgaard, Klaus; Bache, Iben

    2010-01-01

    OBJECTIVE: In terms of number of X chromosomes, women with Turner's syndrome cytogenetically resemble men. An increased risk of autoimmune diseases has been observed among women with Turner's syndrome. This study was undertaken to investigate whether the autoimmune disease profile in women...... with Turner's syndrome is characterized by diseases with a female or male predominance. METHODS: Using the Danish Cytogenetic Central Register, the Danish National Patient Register, and the Danish Civil Registration System, we estimated relative risk of 46 different autoimmune diseases in a cohort of 798...... Danish women with Turner's syndrome followed up for 12,461 person-years between 1980 and 2004. Standardized incidence ratios (SIRs) of first hospitalization for autoimmune disease and 95% confidence intervals (95% CIs) were used as measures of relative risk. RESULTS: The overall risk of autoimmune...

  14. An atypical presentation of antiphospholipid antibody syndrome

    Directory of Open Access Journals (Sweden)

    Deepti D′Souza

    2015-01-01

    Full Text Available Cutaneous manifestations in antiphospholipid antibody syndrome (APS though common, are extremely diverse and it is important to know which dermatological finding should prompt consideration of antiphospholipid syndrome. The cutaneous manifestations of APS vary from livedo reticularis to cutaneous necrosis, and systemic involvement is invariably an accomplice in APS. Cutaneous ulcers with sharp margins can be seen in APS and they are usually seen on the legs. This case had an atypical presentation, as the initial presentation was painful necrotic ulcers over the legs, which resembled pyoderma gangrenosum and she had no systemic manifestations. There was no history of any arterial or venous thrombosis or any abortions. Antiphospholipid syndrome can be tricky to diagnose when cutaneous lesions are atypical. Nonetheless, it is very important to pin down this syndrome early due to its systemic complications.

  15. An atypical presentation of antiphospholipid antibody syndrome.

    Science.gov (United States)

    D'souza, Deepti; Dandakeri, Sukumar; Bhat, M Ramesh; Srinath, M K

    2015-01-01

    Cutaneous manifestations in antiphospholipid antibody syndrome (APS) though common, are extremely diverse and it is important to know which dermatological finding should prompt consideration of antiphospholipid syndrome. The cutaneous manifestations of APS vary from livedo reticularis to cutaneous necrosis, and systemic involvement is invariably an accomplice in APS. Cutaneous ulcers with sharp margins can be seen in APS and they are usually seen on the legs. This case had an atypical presentation, as the initial presentation was painful necrotic ulcers over the legs, which resembled pyoderma gangrenosum and she had no systemic manifestations. There was no history of any arterial or venous thrombosis or any abortions. Antiphospholipid syndrome can be tricky to diagnose when cutaneous lesions are atypical. Nonetheless, it is very important to pin down this syndrome early due to its systemic complications.

  16. Social Cognition in Williams Syndrome: Face Tuning.

    Science.gov (United States)

    Pavlova, Marina A; Heiz, Julie; Sokolov, Alexander N; Barisnikov, Koviljka

    2016-01-01

    Many neurological, neurodevelopmental, neuropsychiatric, and psychosomatic disorders are characterized by impairments in visual social cognition, body language reading, and facial assessment of a social counterpart. Yet a wealth of research indicates that individuals with Williams syndrome exhibit remarkable concern for social stimuli and face fascination. Here individuals with Williams syndrome were presented with a set of Face-n-Food images composed of food ingredients and in different degree resembling a face (slightly bordering on the Giuseppe Arcimboldo style). The primary advantage of these images is that single components do not explicitly trigger face-specific processing, whereas in face images commonly used for investigating face perception (such as photographs or depictions), the mere occurrence of typical cues already implicates face presence. In a spontaneous recognition task, participants were shown a set of images in a predetermined order from the least to most resembling a face. Strikingly, individuals with Williams syndrome exhibited profound deficits in recognition of the Face-n-Food images as a face: they did not report seeing a face on the images, which typically developing controls effortlessly recognized as a face, and gave overall fewer face responses. This suggests atypical face tuning in Williams syndrome. The outcome is discussed in the light of a general pattern of social cognition in Williams syndrome and brain mechanisms underpinning face processing.

  17. Social cognition in Williams syndrome: face tuning

    Directory of Open Access Journals (Sweden)

    Marina A Pavlova

    2016-08-01

    Full Text Available Many neurological, neurodevelopmental, neuropsychiatric and psychosomatic disorders are characterized by impairments in visual social cognition, body language reading, and facial assessment of a social counterpart. Yet a wealth of research indicates that individuals with Williams syndrome exhibit remarkable concern for social stimuli and face fascination. Here individuals with Williams syndrome were presented with a set of Face-n-Food images composed of food ingredients and in different degree resembling a face (slightly bordering on the Giuseppe Arcimboldo style. The primary advantage of these images is that single components do not explicitly trigger face-specific processing, whereas in face images commonly used for investigating face perception (such as photographs or depictions, the mere occurrence of typical cues already implicates face presence. In a spontaneous recognition task, participants were shown a set of images in a predetermined order from the least to most resembling a face. Strikingly, individuals with Williams syndrome exhibited profound deficits in recognition of the Face-n-Food images as a face: they did not report seeing a face on the images, which typically developing controls effortlessly recognized as a face, and gave overall fewer face responses. This suggests atypical face tuning in Williams syndrome. The outcome is discussed in the light of a general pattern of social cognition in Williams syndrome and brain mechanisms underpinning face processing.

  18. [Jerusalem syndrome - a case report].

    Science.gov (United States)

    Poleszczyk, Anna; Swiecicki, Łukasz

    2013-01-01

    The aim of the paper was to present the case of a patient who developed acute psychotic symptoms on her visit to Jerusalem. The analysis of the clinical case and medical history. The presented 62-year-old women with a history of previous psychiatric disorder arrived with her husband to Jerusalem as a part of organised touristic group. She developed acute psychotic reaction through some stages characteristic for the third type of Jerusalem syndrome. Symptoms resolved completely soon after returning to Poland and admission to the hospital where an antipsychotic treatment was performed. Despite the rare occurrence of this phenomenon, it is worth noting that we can divide Jerusalem syndrome into three types depending on its clinical course, patient's history of previous psychiatric disorders and this division has some clinical implications. This syndrome can be also considered in the context of some factors connected with travelling in general which may be responsible for psychiatric disturbances occurring among travelers. The course of psychiatric disturbances in the presented patient resembled the third type of Jerusalem syndrome despite her past psychiatric history and probably travelling caused her decompensations. In clinical practice we have to remember that in case of the patients with a known psychiatric history, clinical evaluation may be useful before travelling. In previously healthy patients developing the third type of the Jerusalem syndrome early intervention and separation from Jerusalem and its holy places and their contact with family are crucial for soon recovery.

  19. Formation of structures resembling ericoid mycorrhizas by the root endophytic fungus Heteroconium chaetospira within roots of Rhododendron obtusum var. kaempferi.

    Science.gov (United States)

    Usuki, Fumiaki; Narisawa, Kazuhiko

    2005-01-01

    A resynthesis study was conducted to clarify the relationship between the root endophyte, Heteroconium chaetospira and the ericaceous plant, Rhododendron obtusum var. kaempferi. The host plant roots were recovered 2 months after inoculation, and the infection process and colonization pattern of the fungus were observed under a microscope. The hyphae of H. chaetospira developed structures resembling ericoid mycorrhizas, such as hyphal coils within the host epidermal cells. These structures were morphologically the same as previously reported ericoid mycorrhizal structures. The frequencies of hyphal coils within the epidermal cells of host roots ranged from 13 to 20%. H. chaetospira did not promote or reduce host plant growth. This is the first reported study that H. chaetospira is able to form structures resembling mycorrhizas within the roots of ericaceous plants.

  20. Martian alkaline basites chemically resemble basic rocks of the Lovozero alkaline massif, Kola peninsula

    Science.gov (United States)

    Kochemasov, G.

    " (syenite, granite) for Mars [5]. Actually the martian missions successively discovered andesite, dacite, low-Fe highlands. Now "Spirit" has found on a small outlier of highlands -Columbia Hills -a batch of thinly layered gently dipping light rocks that surely are not impact melts as at very short distance there is a sharp transition from light Fe-poor to ultrabasic rocks (on opposite slopes of this small hill) [6]. This layered sequence of more or less altered and weathered rocks resembles differentiated sequences of Lovozero and other alkaline and UB-alkaline massifs of Kola Peninsula (though fresh and much richer in alkalis). Here we compare compositions of alkaline basic rocks of Columbia Hills (dyke or sill [4]) with that of basic volcanics and a later dyke at Lovozero. 5 analyses in wt.%: 1-Backstay (tra1 chybasalt) & 2-Irvine (basalt) of CH, 3-augiteporphyrite, 4-essexite-porphyrite, 5- alkali- lamprophyre dyke of Lovozero. SiO2 -49.9, 47.7, 45.78, 48.09, 41.57; TiO2 - 0.93, 1.07, 7.80, 2.35, 2.92; Al2 O3 -13.2; 10.8, 8.08; 13.74; 11.77; Fe2 O3 -3.40, 7.79 (4.99), 5.90, 6.00, 4.53; FeO -10.6, 12.5 (15.0), 8.65, 7.60, 8.28; MnO -0.25, 0.37, 0.12, 0.17, 0.28; MgO -8.36, 10.8, 7.61, 7.19, 10.59; CaO -6.09, 6.12, 10.73, 8.77, 11.24; Na2 O -4.02, 2.72, 2.80, 2.84, 3.63; K2 O -1.02, 0.69, 1.97, 2.09, 1.38. Compositional similarities between basites occurring in alkaline conditions on both planets can be found. References: [1] Kochemasov G.G. (1999) Theorems of wave planetary tectonics // Geophys. Res. Abstr., v. 1, # 3, 700; [2] Gellert R. et al. (2006) JGR Planets, v. 111, #E2, EO2505; [3] Squyres S.W. et al. (2006) JGR Planets, v.111, #E2, EO2511; [4] McSween H.Y. et al. (2006) JGR Planets, submitted ; [5] Kochemasov G. G. (1995) Golombek M.P., Edgett K.S., Rice J.W. Jr. (Eds). Mars Pathfinder Landing Site Workshop II: Characteristics of the Ares Vallis Region and Field trips to the Channeled Scabland, Washington. LPI Tech. Rpt. 95-01. Pt.1.LPI, Houston, 1995, 63 pp.; [6

  1. Reprogramming A375 cells to induced-resembled neuronal cells by structured overexpression of specific transcription genes

    OpenAIRE

    ZHANG, HENGZHU; Wei, Min; Jiang, Yangyang; Wang, Xiaodong; SHE, LEI; Yan, Zhengcun; Dong, Lun; Pang, Lujun; Wang, Xingdong

    2016-01-01

    Induced-resembled neuronal cells (irNCs) are generated by reprogramming human melanoma cells through the introduction of key transcription factors, providing novel concepts in the treatment of malignant tumor cells and making it possible to supply neural cells for laboratory use. In the present study, irNCs were derived from A375 cells by inducing the 'forced' overexpression of specific genes, including achaete-scute homolog 1 (Ascl1), neuronal differentiation factor 1 (Neurod1), myelin trans...

  2. Structural basis for transcription-coupled repair: the N terminus of Mfd resembles UvrB with degenerate ATPase motifs.

    Science.gov (United States)

    Assenmacher, Nora; Wenig, Katja; Lammens, Alfred; Hopfner, Karl-Peter

    2006-01-27

    The transcription repair coupling factor Mfd removes stalled RNA polymerase from DNA lesions and links transcription to UvrABC-dependent nucleotide excision repair in prokaryotes. We report the 2.1A crystal structure of the UvrA-binding N terminus (residues 1-333) of Escherichia coli Mfd (Mfd-N). Remarkably, Mfd-N reveals a fold that resembles the three N-terminal domains of the repair enzyme UvrB. Domain 1A of Mfd adopts a typical RecA fold, domain 1B matches the damage-binding domain of the UvrB, and domain 2 highly resembles the implicated UvrA-binding domain of UvrB. However, Mfd apparently lacks a functional ATP-binding site and does not contain the DNA damage-binding motifs of UvrB. Thus, our results suggest that Mfd might form a UvrA recruitment factor at stalled transcription complexes that architecturally but not catalytically resembles UvrB.

  3. Opposite-sex siblings decrease attraction, but not prosocial attributions, to self-resembling opposite-sex faces.

    Science.gov (United States)

    DeBruine, Lisa M; Jones, Benedict C; Watkins, Christopher D; Roberts, S Craig; Little, Anthony C; Smith, Finlay G; Quist, Michelle C

    2011-07-12

    Contextual cues of genetic relatedness to familiar individuals, such as cosocialization and maternal-perinatal association, modulate prosocial and inbreeding-avoidance behaviors toward specific potential siblings. These findings have been interpreted as evidence that contextual cues of kinship indirectly influence social behavior by affecting the perceived probability of genetic relatedness to familiar individuals. Here, we test a more general alternative model in which contextual cues of kinship can influence the kin-recognition system more directly, changing how the mechanisms that regulate social behavior respond to cues of kinship, even in unfamiliar individuals for whom contextual cues of kinship are absent. We show that having opposite-sex siblings influences inbreeding-relevant perceptions of facial resemblance but not prosocial perceptions. Women with brothers were less attracted to self-resembling, unfamiliar male faces than were women without brothers, and both groups found self-resemblance to be equally trustworthy for the same faces. Further analyses suggest that this effect is driven by younger, rather than older, brothers, consistent with the proposal that only younger siblings exhibit the strong kinship cue of maternal-perinatal association. Our findings provide evidence that experience with opposite-sex siblings can directly influence inbreeding-avoidance mechanisms and demonstrate a striking functional dissociation between the mechanisms that regulate inbreeding and the mechanisms that regulate prosocial behavior toward kin.

  4. Epidemiology, pathogenesis, and management of takotsubo syndrome.

    Science.gov (United States)

    Y-Hassan, Shams; Tornvall, Per

    2017-09-15

    Takotsubo syndrome is a recently recognized acute cardiac disease entity with a clinical presentation resembling that of an acute coronary syndrome. The typical takotsubo syndrome patient has a unique circumferential left (bi-) ventricular contraction abnormality profile that extends beyond a coronary artery supply territory and appears to follow the anatomical cardiac sympathetic innervation. The syndrome predominantly affects postmenopausal women and is often preceded by emotional or physical stress. Patients with predisposing factors such as malignancy and other chronic comorbidities are more prone to suffer from takotsubo syndrome. The pathogenesis of takotsubo syndrome is elusive. Several pathophysiological mechanisms involving myocardial ischemia (multivessel coronary artery spasm, microvascular dysfunction, aborted myocardial infarction), left ventricular outlet tract obstruction, blood-borne catecholamine myocardial toxicity, epinephrine-induced switch in signal trafficking, and autonomic nervous system dysfunction have been proposed. The syndrome is usually reversible; nevertheless, during the acute stage, a substantial number of patients develop severe complications such as arrhythmias, heart failure including pulmonary edema and cardiogenic shock, thromboembolism, cardiac arrest, and rupture. Treatment of precipitating factors, predisposing diseases, and complications is fundamental during the acute stage of the disease. The epidemiology, pathogenesis, and management of takotsubo syndrome are reviewed in this paper.

  5. From FRA to RFN: How the Family Resemblance Approach Can Be Transformed for Science Curriculum Analysis on Nature of Science

    Science.gov (United States)

    Kaya, Ebru; Erduran, Sibel

    2016-11-01

    The inclusion of Nature of Science (NOS) in the science curriculum has been advocated around the world for several decades. One way of defining NOS is related to the family resemblance approach (FRA). The family resemblance idea was originally described by Wittgenstein. Subsequently, philosophers and educators have applied Wittgenstein's idea to problems of their own disciplines. For example, Irzik and Nola adapted Wittgenstein's generic definition of the family resemblance idea to NOS, while Erduran and Dagher reconceptualized Irzik and Nola's FRA-to-NOS by synthesizing educational applications by drawing on perspectives from science education research. In this article, we use the terminology of "Reconceptualized FRA-to-NOS (RFN)" to refer to Erduran and Dagher's FRA version which offers an educational account inclusive of knowledge about pedagogical, instructional, curricular and assessment issues in science education. Our motivation for making this distinction is rooted in the need to clarify the various accounts of the family resemblance idea.The key components of the RFN include the aims and values of science, methods and methodological rules, scientific practices, scientific knowledge as well as the social-institutional dimensions of science including the social ethos, certification, and power relations. We investigate the potential of RFN in facilitating curriculum analysis and in determining the gaps related to NOS in the curriculum. We analyze two Turkish science curricula published 7 years apart and illustrate how RFN can contribute not only to the analysis of science curriculum itself but also to trends in science curriculum development. Furthermore, we present an analysis of documents from USA and Ireland and contrast them to the Turkish curricula thereby illustrating some trends in the coverage of RFN categories. The results indicate that while both Turkish curricula contain statements that identify science as a cognitive-epistemic system, they

  6. Malignant syndrome in Parkinson's disease without dopaminergic drug withdrawal.

    Science.gov (United States)

    Chandran, C J Suresh

    2008-10-01

    Malignant syndrome is a rare complication occurring during the course of drug treatment for Parkinson's disease. It resembles neuroleptic malignant syndrome and is characterized by fever, marked rigidity, altered consciousness, leucocytosis and elevated creatine kinase. Malignant syndrome is a potentially fatal condition and awareness of this condition is imperative for prevention and treatment. The commonest precipitating factor is dopaminergic drug withdrawal or dose reduction. We report malignant syndrome (precipitated by hyponatremia) in a case of Parkinson's disease, in the absence of dopaminergic drug withdrawal. A 60-year-old man presented with fever, severe rigidity and altered sensorium following repeated vomiting. On investigation, he was found to have hyponatremia precipitated malignant syndrome. Treatment with hydration, cooling, correction of hyponatremia and dopaminergic drugs reversed his condition. The triad of fever, severe rigidity and altered sensorium should prompt evaluation for malignant syndrome in Parkinson's disease.

  7. Syndromic autism: II. Genetic syndromes associated with autism

    National Research Council Canada - National Science Library

    Artigas-Pallarés, J; Gabau-Vila, E; Guitart-Feliubadaló, M

    2005-01-01

    ..., tuberous sclerosis, Duchenne's disease, Timothy syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert...

  8. Edwards' syndrome.

    Science.gov (United States)

    Crawford, Doreen; Dearmun, Annette

    2016-12-08

    Edwards' syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.

  9. Dravet Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  10. Paraneoplastic Syndromes

    Science.gov (United States)

    ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ...

  11. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  12. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  13. Lynch Syndrome

    Science.gov (United States)

    ... colon cancer may include surgery, chemotherapy and radiation therapy. Cancer screening for people with Lynch syndrome If you ... et al. Milestones of Lynch syndrome: 1895-2015. Nature Reviews Cancer. http://www.nature.com/nrc/journal/vaop/ncurrent/ ...

  14. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  15. Meckel syndrome

    National Research Council Canada - National Science Library

    Salonen, R; Paavola, P

    1998-01-01

    Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases...

  16. Angelman Syndrome

    Science.gov (United States)

    ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ...

  17. Apert Syndrome.

    Science.gov (United States)

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

  18. Learning about Down Syndrome

    Science.gov (United States)

    ... genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What are the symptoms ... syndrome Additional Resources for Down Syndrome What is Down syndrome? Down syndrome is a chromosomal condition related to ...

  19. Velocardiofacial Syndrome

    Science.gov (United States)

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  20. Fraser syndrome

    Directory of Open Access Journals (Sweden)

    Kalpana Kumari M

    2008-04-01

    Full Text Available Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings of a rare case of Fraser syndrome in a male infant.

  1. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  2. Wallenberg's Syndrome

    Science.gov (United States)

    ... Information Page You are here Home » Disorders » All Disorders Wallenberg's Syndrome Information Page Wallenberg's Syndrome Information Page What ... better ways to prevent, treat, and ultimately cure disorders such as Wallenberg’s syndrome. Information from the National Library of Medicine’s ...

  3. From FRA to RFN, or How the Family Resemblance Approach Can Be Transformed for Science Curriculum Analysis on Nature of Science

    Science.gov (United States)

    Kaya, Ebru; Erduran, Sibel

    2016-01-01

    The inclusion of Nature of Science (NOS) in the science curriculum has been advocated around the world for several decades. One way of defining NOS is related to the family resemblance approach (FRA). The family resemblance idea was originally described by Wittgenstein. Subsequently, philosophers and educators have applied Wittgenstein's idea to…

  4. Refeeding syndrome.

    Science.gov (United States)

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

    2009-01-01

    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  5. [Metabolic syndrome].

    Science.gov (United States)

    Mitsuishi, Masanori; Miyashita, Kazutoshi; Itoh, Hiroshi

    2009-02-01

    Metabolic syndrome, which is consisted of hypertension, dyslipidemia and impaired glucose tolerance, is one of the most significant lifestyle-related disorders that lead to cardiovascular diseases. Among many upstream factors that are related to metabolic syndrome, obesity, especially visceral obesity, plays an essential role in its pathogenesis. In recent studies, possible mechanisms which connect obesity to metabolic syndrome have been elucidated, such as inflammation, abnormal secretion of adipokines and mitochondrial dysfunction. In this review, we focus on the relationship between obesity and metabolic syndrome; and illustrate how visceral obesity contributes to, and how the treatments for obesity act on metabolic syndrome.

  6. Socioeconomic and Demographic Factors for Spousal Resemblance in Obesity Status and Habitual Physical Activity in the United States

    Directory of Open Access Journals (Sweden)

    Hsin-Jen Chen

    2014-01-01

    Full Text Available Studies suggested that the married population has an increased risk of obesity and assimilation between spouses’ body weight. We examined what factors may affect married spouses’ resemblance in weight status and habitual physical activity (HPA and the association of obesity/HPA with spouses’ sociodemoeconomic characteristics and lifestyles. Medical Expenditure Panel Survey data of 11,403 adult married couples in the US during years 2006–2008 were used. Absolute-scale difference and relative-scale resemblance indices (correlation and kappa coefficients in body mass index (BMI and HPA were estimated by couples’ socioeconomic and demographic characteristics. We found that spousal difference in BMI was smaller for couples with a lower household income, for who were both unemployed, and for older spouses. Correlation coefficient between spouses’ BMI was 0.24, differing by race/ethnicity and family size. Kappa coefficient for weight status (obesity: BMI ≥ 30, overweight: 30 > BMI ≥ 25 was 0.11 and 0.35 for HPA. Never-working women’s husbands had lower odds of obesity than employed women’s husbands (OR = 0.69 (95% CI = 0.53–0.89. Men’s unemployment status was associated with wives’ greater odds of obesity (OR = 1.31 (95% CI = 1.01–1.71. HPA was associated with men’s employment status and income level, but not with women’s. The population representative survey showed that spousal resemblance in weight status and HPA varied with socioeconomic and demographic factors.

  7. Two-dimensional proteome reference map of Rhizobium tropici PRF 81 reveals several symbiotic determinants and strong resemblance with agrobacteria.

    Science.gov (United States)

    Gomes, Douglas Fabiano; Batista, Jesiane Stefania da Silva; Torres, Adalgisa Ribeiro; de Souza Andrade, Diva; Galli-Terasawa, Lygia Vitoria; Hungria, Mariangela

    2012-03-01

    Rhizobium tropici strain PRF 81 is used in commercial inoculants for common-bean crops in Brazil because of its high efficiency in nitrogen fixation and, as in other strains belonging to this species, its tolerance of environmental stresses, representing a useful biological alternative to chemical nitrogen fertilizers. In this study, a proteomic reference map of PRF 81 was obtained by two-dimensional gel electrophoresis and MALDI-TOF/TOF-TOF mass spectrometry. In total, 115 spots representing 109 different proteins were successfully identified, contributing to a better understanding of the rhizobia-legume symbiosis and supporting, at proteomics level, a strong resemblance with agrobacteria.

  8. [Autoinflammatory syndrome].

    Science.gov (United States)

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.

  9. Efficacy of electrical stimulation of retinal ganglion cells with temporal patterns resembling light-evoked spike trains.

    Science.gov (United States)

    Wong, Raymond C S; Garrett, David J; Grayden, David B; Ibbotson, Michael R; Cloherty, Shaun L

    2014-01-01

    People with degenerative retinal diseases such as retinitis pigmentosa lose most of their photoreceptors but retain a significant proportion (~30%) of their retinal ganglion cells (RGCs). Microelectronic retinal prostheses aim to bypass the lost photoreceptors and restore vision by directly stimulating the surviving RGCs. Here we investigate the extent to which electrical stimulation of RGCs can evoke neural spike trains with statistics resembling those of normal visually-evoked responses. Whole-cell patch clamp recordings were made from individual cat RGCs in vitro. We first recorded the responses of each cell to short sequences of visual stimulation. These responses were converted to trains of electrical stimulation that we then presented to the same cell via an epiretinal stimulating electrode. We then quantified the efficacy of the electrical stimuli and the latency of the evoked spikes. In all cases, spikes were evoked with sub-millisecond latency (0.55 ms, median, ON cells, n = 8; 0.75 ms, median, OFF cells, n = 6) and efficacy ranged from 0.4-1.0 (0.79, median, ON cells; 0.97, median, OFF cells). These data demonstrate that meaningful spike trains, resembling normal responses of RGCs to visual stimulation, can be reliably evoked by epiretinal prostheses.

  10. Cenani-Lenz syndrome in father and daughter.

    Science.gov (United States)

    De Smet, L; De Beer, P; Fryns, J P

    1996-01-01

    We present a father and daughter with typical clinical and radiological features of Cenani-Lenz syndrome. Cenani-Lenz syndrome has been delineated as a type of complete syndactyly resembling the spoon hand seen in Apert syndrome, with as important additional feature, the fusion of metacarpals and disorganization of the phalanges. Based on the observation of the syndrome in at least two affected siblings born to normal parents and the consanguinity in one family autosomal recessive inheritance was proposed. The findings in the present family could indicate that Cenani-Lenz syndrome may be genetically heterogeneous. Another possible explanation could be that the occurrence in affected siblings born to normal parents could be explained by gonadal mosaicism for an autosomal dominant gene.

  11. Wellens' syndrome

    Directory of Open Access Journals (Sweden)

    Franco Lai

    2007-12-01

    Full Text Available We report a case of quite rare cause of thoracic pain suspected by emergency physician as Wellens’ syndrome. Wellens’ syndrome is a pattern of electrocardiographic T-wave changes associated with critical, proximal left anterior descending artery (LAD. This syndrome is about 10-15% of all unstable angina in emergency department (ED. The cardiologic consult was obtained in ED and it was not conclusive for a Wellens’ syndrome, so that the diagnostistic planning was wrong. The authors point out the importance of this syndrome in ED and the necessity of an urgent angiographic study as every acute coronary syndrome presented in ED. We remark the importance in ED to recognize these changes associated with critical LAD obstruction and the high risk for anterior wall myocardial infarction.

  12. [Autoinflammatory syndromes].

    Science.gov (United States)

    Lamprecht, P; Gross, W L

    2009-06-01

    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases.

  13. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  14. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi

    2013-01-01

    Full Text Available Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  15. Gorlin syndrome.

    Science.gov (United States)

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

    2013-05-01

    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  16. Metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Gogia Atul

    2006-02-01

    Full Text Available The Metabolic syndrome is a widely prevalent and multi-factorial disorder. The syndrome has been given several names, including- the metabolic syndrome, the insulin resistance syndrome, the plurimetabolic syndrome, and the deadly quartet. With the formulation of NCEP/ATP III guidelines, some uniformity and standardization has occurred in the definition of metabolic syndrome and has been very useful for epidemiological purposes. The mechanisms underlying the metabolic syndrome are not fully known; however resistance to insulin stimulated glucose uptake seems to modify biochemical responses in a way that predisposes to metabolic risk factors. The clinical relevance of the metabolic syndrome is related to its role in the development of cardiovascular disease. Management of the metabolic syndrome involves patient-education and intervention at various levels. Weight reduction is one of the main stays of treatment. In this article we comprehensively discuss this syndrome- the epidemiology, pathogenesis, clinical relevance and management. The need to do a comprehensive review of this particular syndrome has arisen in view of the ever increasing incidence of this entitiy. Soon, metabolic syndrome will overtake cigarette smoking as the number one risk factor for heart disease among the US population. Hardly any issue of any primary care medical journal can be opened without encountering an article on type 2 diabetes, dyslipidemia or hypertension. It is rare to see type 2 diabetes, dyslipidemia, obesity or hypertension in isolation. Insulin resistance and resulting hyperinsulinemia have been implicated in the development of glucose intolerance (and progression to type 2 diabetes, hypertriglyceridemia, hypertension, polycystic ovary yndrome, hypercoagulability and vascular inflammation, as well as the eventual development of atherosclerotic cardiovascular disease manifested as myocardial infarction, stroke and myriad end organ diseases. Conversely

  17. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  18. Tracking of familial resemblance for resting blood pressure over time in the Québec Family Study.

    Science.gov (United States)

    Rice, T; Rao, R; Pérusse, L; Bouchard, C; Rao, D C

    2000-06-01

    The etiology of familial resemblance for systolic (SBP) and diastolic (DBP) blood pressure, both within a single time point as well as across time points, was assessed to determine how familial etiologies underlying a trait may change across time. SBP and DBP measurements were taken roughly 12 years apart in family members participating in the longitudinal Québec Family Study. A longitudinal (bivariate) familial correlation model yields 3 types of correlations: intraindividual cross-time (e.g., father's BP at time 1 with his own BP at time 2); interindividual within-time (e.g., father time 1 with child time 1); and interindividual cross-time (e.g., father time 1 with child time 2). In addition, the change in BP across time (i.e., time 1-time 2) is examined using a univariate family correlation model. This combined method is useful in assessing the degree to which the same familial factors are operating across time (interindividual cross-time correlations), as well as the degree to which different heritable components are involved across time (change score). Maximal heritabilities for SBP were about 70% at each time point, while for DBP the heritability was larger at time 1 (87%) than time 2 (39%). Both the change scores (48% for SBP and 54% for DBP) and the cross-time comparisons (58% to 72% for SBP and 63% to 65% for DBP) evidenced significant familial resemblance. These results illustrate how simple methodologies can be used to specify how familial etiologies underlying a trait may change across time. For BP, the model includes unique familial factors that are specific to each time measurement, and an additional familial factor which is common to both time points. The factors leading to differences in longitudinal familial resemblance for BP (i.e., the unique factors) may be primarily genetic in origin, while those leading to stability across time may include both genetic and familial environmental effects. Sex and/or age interactions with the genotypes are also

  19. Guinea-pig interpubic joint (symphysis pubica relaxation at parturition: Underlying cellular processes that resemble an inflammatory response

    Directory of Open Access Journals (Sweden)

    Muñoz-de-Toro Mónica

    2003-11-01

    Full Text Available Abstract Background At term, cervical ripening in coordination with uterine contractions becomes a prerequisite for a normal vaginal delivery. Currently, cervical ripening is considered to occur independently from uterine contractions. Many evidences suggest that cervical ripening resembles an inflammatory process. Comparatively little attention has been paid to the increased flexibility of the pelvic symphysis that occurs in many species to enable safe delivery. The aim of this study was to investigate whether the guinea-pig interpubic joint relaxation process observed during late pregnancy and parturition resembles an inflammatory process. Methods Samples of pubic symphysis were taken from pregnant guinea-pigs sacrificed along gestation, parturition and postpartum. Serial sections of paraffin-embedded tissues were used to measure the interpubic distance on digitalized images, stained with Giemsa to quantify leukocyte infiltration and to describe the vascular area changes, or studied by the picrosirius-polarization method to evaluate collagen remodeling. P4 and E2 serum levels were measured by a sequential immunometric assay. Results Data showed that the pubic relaxation is associated with an increase in collagen remodeling. In addition, a positive correlation between E2 serum levels and the increase in the interpubic distance was found. On the other hand, a leukocyte infiltration in the interpubic tissue around parturition was described, with the presence of almost all inflammatory cells types. At the same time, histological images show an increase in vascular area (angiogenesis. Eosinophils reached their highest level immediately before parturition; whereas for the neutrophilic and mononuclear infiltration higher values were recorded one day after parturition. Correlation analysis showed that eosinophils and mononuclear cells were positively correlated with E2 levels, but only eosinophilic infiltration was associated with collagen remodeling

  20. An analysis on equal width quantization and linearly separable subcode encoding-based discretization and its performance resemblances

    Directory of Open Access Journals (Sweden)

    Lim Meng-Hui

    2011-01-01

    Full Text Available Abstract Biometric discretization extracts a binary string from a set of real-valued features per user. This representative string can be used as a cryptographic key in many security applications upon error correction. Discretization performance should not degrade from the actual continuous features-based classification performance significantly. However, numerous discretization approaches based on ineffective encoding schemes have been put forward. Therefore, the correlation between such discretization and classification has never been made clear. In this article, we aim to bridge the gap between continuous and Hamming domains, and provide a revelation upon how discretization based on equal-width quantization and linearly separable subcode encoding could affect the classification performance in the Hamming domain. We further illustrate how such discretization can be applied in order to obtain a highly resembled classification performance under the general Lp distance and the inner product metrics. Finally, empirical studies conducted on two benchmark face datasets vindicate our analysis results.

  1. Human Glioma–Initiating Cells Show a Distinct Immature Phenotype Resembling but Not Identical to NG2 Glia

    Science.gov (United States)

    Barrantes-Freer, Alonso; Kim, Ella; Bielanska, Joanna; Giese, Alf; Mortensen, Lena Sünke; Schulz-Schaeffer, Walter J.; Stadelmann, Christine; Brück, Wolfgang

    2013-01-01

    Abstract Glioma-initiating cells (GICs) represent a potential important therapeutic target because they are likely to account for the frequent recurrence of malignant gliomas; however, their identity remains unsolved. Here, we characterized the cellular lineage fingerprint of GICs through a combination of electrophysiology, lineage marker expression, and differentiation assays of 5 human patient-derived primary GIC lines. Most GICs coexpressed nestin, NG2 proteoglycan, platelet-derived growth factor receptor-α, and glial fibrillary acidic protein. Glioma-initiating cells could be partially differentiated into astrocytic but not oligodendroglial or neural lineages. We also demonstrate that GICs have a characteristic electrophysiologic profile distinct from that of well-characterized tumor bulk cells. Together, our results suggest that GICs represent a unique type of cells reminiscent of an immature phenotype that closely resembles but is not identical to NG2 glia with respect to marker expression and functional membrane properties. PMID:23481707

  2. Reducing violence in forensic care - how does it resemble the domains of a recovery-oriented care?

    Science.gov (United States)

    Olsson, Helen; Schön, Ulla-Karin

    2016-12-01

    Forensic psychiatry is characterized by involuntary treatment and risk of violence. The concept of recovery is rarely in focus as the primary focus is on risk assessment, violence prevention and reducing coercion in care. To determine what resources forensic staff use to avoid or prevent violent situations, and to explore how these practices resemble the domains of recovery-oriented care. Semi-structured interviews with staff who were identified by forensic patients as key workers in their recovery process. Interview texts were analyzed using interpretive content analysis. Staff prevent violent situations using tacit knowledge and experience, and through a shared collegial responsibility. Staff safeguard patients, encourage patient participation, and provide staff consistency. The results have implications for forensic care as well as psychiatry regarding the process of making recovery a reality for patients in the forensic care setting.

  3. 'Hair-on-end' skull changes resembling thalassemia caused by marrow expansion in uncorrected complex cyanotic heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Walor, David M.; Berdon, Walter E. [Columbia University Medical Center, Department of Radiology Children' s Hospital of New York, New York, NY (United States); Westra, Sjirk J. [Massachusetts General Hospital, Department of Radiology, Boston, MA (United States)

    2005-07-01

    ''Hair-on-end'' skull changes resembling thalassemia were rarely described in the 1950s and 1960s in children with cyanotic congenital heart diseases; these changes were described almost entirely in patients with tetralogy of Fallot or D-transposition of the great arteries. As these lesions have become correctable, the osseous changes, never common, seem now only to exist in a small number of patients with uncorrectable complex cyanotic congenital heart disease who survive in a chronic hypoxic state. We present two cases: a case of marked marrow expansion in the skull of a 5-year-old boy with uncorrectable cyanotic heart disease studied by CT, and a second case of an 8-year-old with tetralogy of Fallot and pulmonary atresia studied by plain skull radiographs. The true incidence of these findings is unknown. (orig.)

  4. Entropy generation in a channel resembling gas turbine cooling passage: Effect of rotation number and density ratio on entropy generation

    Indian Academy of Sciences (India)

    M Basha; M Al-Qahtani; B S Yilbas

    2009-06-01

    Flow into a passage resembling a gas turbine blade cooling passage is considered and entropy generation rate in the passage is examined for unique rotation number and density ratios. In the simulations, leading and trailing walls of the passage are assumed to be at constant temperature. A control volume approach is introduced to discretize the governing equations of flow, heat transfer, and entropy generation. Reynolds stress turbulence model is accommodated in the simulation to account for the turbulence. The study is extended to include two rotational speeds and three density ratios. The passage aspect ratio is kept 10:1. It is found that volumetric entropy generation rate attains high values at passage inlet due to attainment of high temperature gradient in this region. Increasing rotation number and density ratio enhances volumetric entropy generation rate in the passage.

  5. An enigmatic fossil fungus from the 410 Ma Rhynie chert that resembles Macrochytrium (Chytridiomycota) and Blastocladiella (Blastocladiomycota).

    Science.gov (United States)

    Krings, Michael; Taylor, Thomas N; Martin, Helmut

    2016-01-01

    Litter layers in the Lower Devonian (~ 410 Ma) Rhynie chert were inhabited by a wide variety of saprotrophic fungi, however, only a few of these organisms have been described formally. A new microfungus, Trewinomyces annulifer gen. et sp. nov., occurs as tufts on decaying land plant axes from the Rhynie chert. The fungus consists of an intramatrical rhizoidal system and an erect extramatrical hypha (stalk) that bears a single, terminal sporangium. One or two successive rings often are present in the stalk immediately below the sporangium base. Overall morphology of T. annulifer resembles the extant genera Macrochytrium (Chytridiomycota) and Blastocladiella (Blastocladiomycota). However, the rhizoids are septate or pseudoseptate, a feature not known in extant zoosporic fungi, and thus render the systematic affinities of T. annulifer unresolved. Trewinomyces annulifer offers a rare view of the morphology of a distinctive Early Devonian saprotrophic microfungus. © 2016 by The Mycological Society of America.

  6. Comparison of MRI-assessed body fat content between lean women with polycystic ovary syndrome (PCOS) and matched controls : less visceral fat with PCOS

    NARCIS (Netherlands)

    Dolfing, Jacoba G.; Stassen, Chrit M.; van Haard, Paul M. M.; Wolffenbuttel, Bruce H. R.; Schweitzer, Dave H.

    BACKGROUND: Polycystic ovary syndrome (PCOS) is a heterogeneous disorder. However, PCOS has a strong resemblance to the metabolic syndrome, including preponderance of visceral fat deposition. The aim of this study is to compare fat distribution between lean women with PCOS and controls matched for

  7. Comparison of MRI-assessed body fat content between lean women with polycystic ovary syndrome (PCOS) and matched controls : less visceral fat with PCOS

    NARCIS (Netherlands)

    Dolfing, Jacoba G.; Stassen, Chrit M.; van Haard, Paul M. M.; Wolffenbuttel, Bruce H. R.; Schweitzer, Dave H.

    2011-01-01

    BACKGROUND: Polycystic ovary syndrome (PCOS) is a heterogeneous disorder. However, PCOS has a strong resemblance to the metabolic syndrome, including preponderance of visceral fat deposition. The aim of this study is to compare fat distribution between lean women with PCOS and controls matched for b

  8. Transient global ischemia in rats yields striatal projection neuron and interneuron loss resembling that in Huntington's disease.

    Science.gov (United States)

    Meade, C A; Figueredo-Cardenas, G; Fusco, F; Nowak, T S; Pulsinelli, W A; Reiner, A

    2000-12-01

    The various types of striatal projection neurons and interneurons show a differential pattern of loss in Huntington's disease (HD). Since striatal injury has been suggested to involve similar mechanisms in transient global brain ischemia and HD, we examined the possibility that the patterns of survival for striatal neurons after transient global ischemic damage to the striatum in rats resemble that in HD. The perikarya of specific types of striatal interneurons were identified by histochemical or immunohistochemical labeling while projection neuron abundance was assessed by cresyl violet staining. Projectionneuron survival was assessed by neurotransmitter immunolabeling of their efferent fibers in striatal target areas. The relative survival of neuron types was determined quantitatively within the region of ischemic damage, and the degree of fiber loss in striatal target areas was quantified by computer-assisted image analysis. We found that NADPHd(+) and cholinergic interneurons were largely unaffected, even in the striatal area of maximal damage. Parvalbumin interneurons, however, were as vulnerable as projection neurons. Among immunolabeled striatal projection systems, striatoentopeduncular fibers survived global ischemia better than did striatopallidal or striatonigral fibers. The order of vulnerability observed in this study among the striatal projection systems, and the resistance to damage shown by NADPHd(+) and cholinergic interneurons, is similar to that reported in HD. The high vulnerability of projection neurons and parvalbumin interneurons to global ischemia also resembles that seen in HD. Our results thus indicate that global ischemic damage to striatum in rat closely mimics HD in its neuronal selectivity, which supports the notion that the mechanisms of injury may be similar in both.

  9. Synovial histopathology of psoriatic arthritis, both oligo- and polyarticular, resembles spondyloarthropathy more than it does rheumatoid arthritis.

    Science.gov (United States)

    Kruithof, Elli; Baeten, Dominique; De Rycke, Leen; Vandooren, Bernard; Foell, Dirk; Roth, Johannes; Cañete, Juan D; Boots, Annemieke M; Veys, Eric M; De Keyser, Filip

    2005-01-01

    At present only few biological data are available to indicate whether psoriatic arthritis (PsA) is part of the spondyloarthropathy (SpA) concept, whether it is a separate disease entity or a heterogeneous disease group with oligoarticular/axial forms belonging to SpA and polyarticular forms resembling rheumatoid arthritis (RA). To address this issue with regard to peripheral synovitis, we compared the synovial characteristics of PsA with those of ankylosing spondylitis (AS)/undifferentiated SpA (USpA) and RA, and compared the synovium of oligoarticular versus polyarticular PsA. Synovial biopsies were obtained from patients with RA, nonpsoriatic SpA (AS + USpA), and oligoarticular and polyarticular PsA. The histological analysis included examination(s) of the lining layer thickness, vascularity, cellular infiltration, lymphoid aggregates, plasma cells and neutrophils. Also, we performed immunohistochemical assessments of CD3, CD4, CD8, CD20, CD38, CD138, CD68, CD163, CD83, CD1a, CD146, alphaVbeta3, E-selectin, intercellular adhesion molecule-1, vascular cell adhesion molecule-1, S100A12, intracellular citrullinated proteins and major histocompatibility complex (MHC)-human cartilage (HC) gp39 peptide complexes. Comparing SpA (PsA + AS + USpA) with RA, vascularity, and neutrophil and CD163+ macrophage counts were greater in SpA (P polyarticular PsA, no significant differences were noted. Moreover, intracellular citrullinated proteins and MHC-HC gp39 peptide complexes, which are specific markers for RA, were observed in neither oligoarticular nor polyarticular PsA. Taken together, these data indicate that the synovial histopathology of PsA, either oligoarticular or polyarticular, resembles that of other SpA subtypes, whereas both groups can be differentiated from RA on the basis of these same synovial features, suggesting that peripheral synovitis in PsA belongs to the SpA concept.

  10. Meningiomas with conventional MRI findings resembling intraaxial tumors: can perfusion-weighted MRI be helpful in differentiation?

    Energy Technology Data Exchange (ETDEWEB)

    Hakyemez, Bahattin [Uludag University Medical School, Department of Radiology, Bursa (Turkey); Bursa State Hospital, Department of Radiology, Bursa (Turkey); Yildirim, Nalan; Erdogan, Cueneyt; Parlak, Mufit [Uludag University Medical School, Department of Radiology, Bursa (Turkey); Kocaeli, Hasan; Korfali, Ender [Uludag University Medical School, Department of Neurosurgery, Bursa (Turkey)

    2006-10-15

    To investigate the contribution of perfusion-weighted MRI to the differentiation of meningiomas with atypical conventional MRI findings from intraaxial tumors. We retrospectively analyzed 54 meningiomas, 12 glioblastomas and 13 solitary metastases. We detected 6 meningiomas with atypical features on conventional MRI resembling intraaxial tumors. The regional cerebral blood flow (rCBV) ratios of all tumors were calculated via perfusion-weighted MRI. The signal intensity-time curves were plotted and three different curve patterns were observed. The type 1 curve resembled normal brain parenchyma or the postenhancement part was minimally below the baseline, the type 2 curve was similar to the type 1 curve but with the postenhancement part above the baseline, and the type 3 curve had the postenhancement part below the baseline accompanied by widening of the curve. Student's t-test was used for statistical analysis. On CBV images meningiomas were hypervascular and the mean rCBV ratio was 10.58{+-}2.00. For glioblastomas and metastatic lesions, the rCBV ratios were 5.02{+-}1.40 and 4.68{+-}1.54, respectively. There was a statistically significant difference in rCBV ratios between meningiomas and glioblastomas and metastases (P<0.001). Only one of the meningiomas displayed a type 2 curve while five showed a type 3 curve. Glioblastomas and metastases displayed either a type 1 or a type 2 curve. None of the meningiomas showed a type 1 curve and none of the glioblastomas or metastases showed a type 3 curve. (orig.)

  11. Pathophysiology, clinical features and radiological findings of differentiation syndrome/all-trans-retinoic acid syndrome

    Institute of Scientific and Technical Information of China (English)

    Luciano; Cardinale; Francesco; Asteggiano; Federica; Moretti; Federico; Torre; Stefano; Ulisciani; Carmen; Fava; Giovanna; Rege-Cambrin

    2014-01-01

    In acute promyelocytic leukemia, differentiation thera-py based on all-trans-retinoic acid can be complicated by the development of a differentiation syndrome(DS). DS is a life-threatening complication, characterized by respiratory distress, unexplained fever, weight gain, interstitial lung infiltrates, pleural or pericardial effusions, hypotension and acute renal failure. The diagnosis of DS is made on clinical grounds and has proven to be difficult, because none of the symptoms is pathognomonic for the syndrome without any definitive diagnostic criteria. As DS can have subtle signs and symptoms at presentation but progress rapidly, end-stage DS clinical picture resembles the acute respiratory distress syndrome with extremely poor prognosis; so it is of absolute importance to be conscious of these complications and initiate therapy as soon as it was suspected. The radiologic appearance resembles the typical features of cardiogenic pulmonary edema. Diagnosis of DS remains a great skill for radiologists and haematologist but it is of an utmost importance the cooperation in suspect DS, detect the early signs of DS, examine the patients’ behaviour and rapidly detect the complications.

  12. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

    DEFF Research Database (Denmark)

    Boyle, Martine Isabel; Jespersgaard, Cathrine; Nazaryan, Lusine;

    2015-01-01

    Deletions within 11q12.3-11q13.1 are very rare and to date only two cases have been described in the literature. In this study we describe a 23-year-old male patient with intellectual disability, behavioral problems, dysmorphic features, dysphagia, gastroesophageal reflux and skeletal abnormalities......), but a 1.6Mb deletion at chromosome region 11q12.3-11q13.1 was detected by chromosome microarray. The deletion contains several genes including PPP2R5B, which has been associated with intellectual disability and overgrowth; NRXN2, which has been associated with intellectual disability and autism spectrum...

  13. Syndrome of arachnomelia in Simmental cattle

    Directory of Open Access Journals (Sweden)

    Weppert Myriam

    2008-10-01

    Full Text Available Abstract Background The syndrome of arachnomelia is an inherited malformation mainly of limbs, back and head in cattle. At present the arachnomelia syndrome has been well known mainly in Brown Swiss cattle. Nevertheless, the arachnomelia syndrome had been observed in the Hessian Simmental population during the decade 1964–1974. Recently, stillborn Simmental calves were observed having a morphology similar to the arachnomelia syndrome. The goal of this work was the characterization of the morphology and genealogy of the syndrome in Simmental to establish the basis for an effective management of the disease. Results The first pathologically confirmed arachnomelia syndrome-cases in the current Simmental population appeared in the year 2005. By 2007, an additional 140 calves with the arachnomelia syndrome were identified. The major pathological findings were malformed bones affecting the head, long bones of the legs and the vertebral column. It could be shown that, with the exception of two cases that were considered as phenocopies, all of the paternal and about two-third of the maternal pedigrees of the affected calves could be traced back to one common founder. Together with the data from experimental matings, the pedigree data support an autosomal recessive mutation being the etiology of the arachnomelia syndrome. The frequency of the mutation in the current population was estimated to be 3.32%. Conclusion We describe the repeated occurrence of the arachnomelia syndrome in Simmental calves. It resembles completely the same defect occurring in the Brown Swiss breed. The mutation became relatively widespread amongst the current population. Therefore, a control system has to be established and it is highly desirable to map the disease and develop a genetic test system.

  14. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  15. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causi...

  16. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

    Full Text Available Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.

  17. Myelodysplastic Syndromes

    Science.gov (United States)

    ... your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. ... anemia, or easy bleeding. Myelodysplastic syndromes often do ...

  18. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  19. Franceschetti syndrome

    Directory of Open Access Journals (Sweden)

    Vikrant Kasat

    2011-01-01

    Full Text Available Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS. It is named after E. Treacher Collins who described the essential components of the condition. It affects both genders equally. This article reports a case of TCS in an 18-year-old female.

  20. LEOPARD syndrome

    Science.gov (United States)

    ... L, Strano S, Carbone A, Calvieri C, Giustini S. LEOPARD syndrome. Dermatol Online J . 2008;14(3):7. PMID: 18627709 www.ncbi.nlm.nih.gov/pubmed/18627709 . Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. Orphanet J Rare Dis . 2008;3:13. PMID: ...

  1. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.

    2013-06-01

    Full Text Available Turner syndrome is an important cause of short stature in girls and primer amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This topic will review the clinical manifestations, diagnosis and management of Turner syndrome.

  2. Poland syndrome

    OpenAIRE

    Chandra Madhur Sharma; Shrawan Kumar; Meghwani, Manoj K.; Agrawal, Ravi P.

    2014-01-01

    Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  3. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma

    2014-01-01

    Full Text Available Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  4. Bloom syndrome in short children born small for gestational age: a challenging diagnosis.

    Science.gov (United States)

    Renes, Judith S; Willemsen, Ruben H; Wagner, Anja; Finken, Martijn J J; Hokken-Koelega, Anita C S

    2013-10-01

    GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is contraindicated, eg, chromosomal breakage syndromes. Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, mental retardation or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers. We report 2 patients with Bloom syndrome illustrating the variety in clinical manifestations. They were initially diagnosed with short stature after SGA birth and Silver Russell syndrome and treated with GH. Both patients presented with pre- and postnatal growth failure but no clear other characteristic features associated with Bloom syndrome. Photosensitive skin lesions developed only at a pubertal age and were minimal. Also, both children showed normal immunoglobulin levels, normal development, and no signs of endocrinopathies at start of GH. Dysmorphic features resembling Silver Russell syndrome were observed in both patients. Remarkably, during GH treatment IGF-1 levels increased to values greater than 3.5 SD score, with normal IGF binding protein-3 levels. Short children born SGA comprise a heterogeneous group. Bloom syndrome should be tested for in children with consanguineous parents, dysmorphic features (particularly resembling Silver Russell syndrome), skin abnormalities, and/or IGF-1 levels greater than 2.5 SD score during standard GH treatment with normal IGF binding protein-3 levels.

  5. Muscle-type nicotinic receptor modulation by 2,6-dimethylaniline, a molecule resembling the hydrophobic moiety of lidocaine

    Directory of Open Access Journals (Sweden)

    Armando Alberola-Die

    2016-11-01

    Full Text Available To identify the molecular determinants responsible for lidocaine blockade of muscle-type nAChRs, we have studied the effects on this receptor of 2,6-dimethylaniline (DMA, which resembles lidocaine’s hydrophobic moiety. Torpedo marmorata nAChRs were microtransplanted to Xenopus oocytes and currents elicited by ACh (IACh, either alone or co-applied with DMA, were recorded. DMA reversibly blocked IACh and, similarly to lidocaine, exerted a closed-channel blockade, as evidenced by the enhancement of IACh blockade when DMA was pre-applied before its co-application with ACh, and hastened IACh decay. However, there were marked differences among its mechanisms of nAChR inhibition and those mediated by either the entire lidocaine molecule or diethylamine (DEA, a small amine resembling lidocaine’s hydrophilic moiety. Thereby, the IC50 for DMA, estimated from the dose-inhibition curve, was in the millimolar range, which is one order of magnitude higher than that for either DEA or lidocaine. Besides, nAChR blockade by DMA was voltage-independent in contrast to the increase of IACh inhibition at negative potentials caused by the more polar lidocaine or DEA molecules. Accordingly, virtual docking assays of DMA on nAChRs showed that this molecule binds predominantly at intersubunit crevices of the transmembrane-spanning domain, but also at the extracellular domain. Furthermore, DMA interacted with residues inside the channel pore, although only in the open-channel conformation. Interestingly, co-application of ACh with DEA and DMA, at their IC50s, had additive inhibitory effects on IACh and the extent of blockade was similar to that predicted by the allotopic model of interaction, suggesting that DEA and DMA bind to nAChRs at different loci. These results indicate that DMA mainly mimics the low potency and non-competitive actions of lidocaine on nAChRs, as opposed to the high potency and voltage-dependent block by lidocaine, which is emulated by the

  6. Vaginal microbiota of adolescent girls prior to the onset of menarche resemble those of reproductive-age women.

    Science.gov (United States)

    Hickey, Roxana J; Zhou, Xia; Settles, Matthew L; Erb, Julie; Malone, Kristin; Hansmann, Melanie A; Shew, Marcia L; Van Der Pol, Barbara; Fortenberry, J Dennis; Forney, Larry J

    2015-03-24

    Puberty is an important developmental stage wherein hormonal shifts mediate the physical and physiological changes that lead to menarche, but until now, the bacterial composition of vaginal microbiota during this period has been poorly characterized. We performed a prospective longitudinal study of perimenarcheal girls to gain insight into the timing and sequence of changes that occur in the vaginal and vulvar microbiota during puberty. The study enrolled 31 healthy, premenarcheal girls between the ages of 10 and 12 years and collected vaginal and vulvar swabs quarterly for up to 3 years. Bacterial composition was characterized by Roche 454 pyrosequencing and classification of regions V1 to V3 of 16S rRNA genes. Contrary to expectations, lactic acid bacteria, primarily Lactobacillus spp., were dominant in the microbiota of most girls well before the onset of menarche in the early to middle stages of puberty. Gardnerella vaginalis was detected at appreciable levels in approximately one-third of subjects, a notable finding considering that this organism is commonly associated with bacterial vaginosis in adults. Vulvar microbiota closely resembled vaginal microbiota but often exhibited additional taxa typically associated with skin microbiota. Our findings suggest that the vaginal microbiota of girls begin to resemble those of adults well before the onset of menarche. This study addresses longitudinal changes in vaginal and vulvar microbial communities prior to and immediately following menarche. The research is significant because microbial ecology of the vagina is an integral aspect of health, including resistance to infections. The physiologic changes of puberty and initiation of cyclic menstruation are likely to have profound effects on vaginal microbiota, but almost nothing is known about changes that normally occur during this time. Our understanding has been especially hampered by the lack of thorough characterization of microbial communities using techniques

  7. An Investigation into the Mechanics of Windblown Dust Entrainment from Nickel Slag Surfaces Resembling Armoured Desert Pavements

    Science.gov (United States)

    Sanderson, Robert Steven

    The purpose of this thesis is to investigate the dynamics of PM 10 emission from a nickel slag stockpile that closely resembles a desert pavement in physical characteristics. In the field, it was observed that slag surfaces develop by natural processes into a well-armoured surface over some period of time. The surface then consists of two distinct layers; a surficial armour layer containing only non-erodible gravel and cobble-sized clasts, and an underlying dust-laden layer, which contains a wide size range of slag particles, from clay-sized to cobble-sized. This surficial armour layer protects the underlying fines from wind entrainment, at least under typical wind conditions; however, particle emissions still do occur under high wind speeds. The dynamics of particle entrainment from within these surfaces are investigated herein. It is shown that the dynamics of the boundary layer flow over these lag surfaces are influenced by the inherent roughness and permeability of the surficial armour layer, such that the flow resembles those observed over and within vegetation canopies, and those associated with permeable gravel-bed river channels. Restriction of air flow within the permeable surface produces a high-pressure zone within the pore spaces, resulting in a Kelvin-Helmholtz shear instability, which triggers coherent motions in the form of repeating burst-sweep cycles. Using Laser Doppler Anemometry (LDA), it is demonstrated that the lower boundary layer is characterized by both Q4 sweeping motions and Q2 bursting motions, while the upper boundary layer is dominated by Q2 bursts. Pore air motions within the slag material were measured using buried pressure ports. It is shown that the mean pressure gradient which forms within the slag material results in net upward displacement of air, or wind pumping. However, this net upward motion is a result of rapid oscillatory motions which are directly driven by coherent boundary layer motions. It is also demonstrated that

  8. CHARGE syndrome

    Directory of Open Access Journals (Sweden)

    Prasad Chitra

    2006-09-01

    Full Text Available Abstract CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness. In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness. Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child

  9. CLOVES syndrome.

    Science.gov (United States)

    Bloom, Jacob; Upton, Joseph

    2013-12-01

    A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes.

  10. Hubris syndrome.

    Science.gov (United States)

    Owen, David

    2008-08-01

    Hubris syndrome is associated with power, more likely to manifest itself the longer the person exercises power and the greater the power they exercise. A syndrome not to be applied to anyone with existing mental illness or brain damage. Usually symptoms abate when the person no longer exercises power. It is less likely to develop in people who retain a personal modesty, remain open to criticism, have a degree of cynicism or well developed sense of humour. Four heads of government in the last 100 years are singled out as having developed hubris syndrome: David Lloyd George, Margaret Thatcher, George W Bush and Tony Blair.

  11. HYDROLETHALUS SYNDROME

    Directory of Open Access Journals (Sweden)

    Aradhana

    2013-06-01

    Full Text Available INTRODUCTION: Hydrolethalus Syndrome (HLS is a rare lethal genetic syndrome, recognized as a consequence of a study on Meckle syndrome in Finland .1 HLS is characterized by multiple developmental defects of fetus which include fetal hydrocephalus, agenesis of corpus callosum, absent midline structures of brain, Cleft lip and cleft palate, defective lobulation of lungs, micrognathia and very characteristic abnormality of polydactyly. About 80% of patients have polydactyly, in hands it is postaxial and preaxial in feet with duplicated big toe. A highly characteristic hallux duplex is seen in almost no other situation .2 Club feet is also common.

  12. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  13. Jerusalem syndrome.

    Science.gov (United States)

    Bar-el, Y; Durst, R; Katz, G; Zislin, J; Strauss, Z; Knobler, H Y

    2000-01-01

    Jerusalem's psychiatrists expect to encounter, as the millennium approaches, an ever-increasing number of tourists who, upon arriving in Jerusalem, may suffer psychotic decompensation. To describe the Jerusalem syndrome as a unique acute psychotic state. This analysis is based on accumulated clinical experience and phenomenological data consisting of cultural and religious perspectives. Three main categories of the syndrome are identified and described, with special focus on the category pertaining to spontaneous manifestations, unconfounded by previous psychotic history or psychopathology. The discrete form of the Jerusalem syndrome is related to religious excitement induced by proximity to the holy places of Jerusalem, and is indicated by seven characteristic sequential stages.

  14. Enteropathy-associated T-cell lymphoma presenting with eosinophilia

    NARCIS (Netherlands)

    Hovenga, S; de Graaf, H; Joosten, P; van den Berg, GA; Storm, H; Langerak, AW; Kluin, PM; Kibbelaar, RE

    Hypereosinophilia can be related to various diseases; when it occurs without an obvious cause it is called idiopathic hypereosinophilic syndrome (IHES). We describe a patient with increasing eosinophilia, which in spite of extensive diagnostic procedures initially remained unexplained. However,

  15. 淋巴细胞变异型嗜酸性粒细胞增多症基础与临床%Basic and clinical research of lymphocytic variant hypereosinophilic

    Institute of Scientific and Technical Information of China (English)

    龚若兰(综述); 陈同辛(审校)

    2016-01-01

    Eosinophil disorders are a range of heterogeneous diseases, which manifest as persistent increase of eosinophile granulocyte in blood and tissue, and may cause microenvironment change and irreversible chronic organ damage. According to World Health Organization, eosinophil diseases were divided into hypereosinophilia (HE) and hypereosinophilia syndrome (HES) by whether the organ is involved. Besides familial HE, HE were also divided into secondary (reactive) HE, primary (clonal/neoplastic) HE, and idiopathic HE. Lymphocytic variant HE is a special kind of secondary HE. With the study of the molecular mechanism of lymphocytic variant HE, the diagnosis is gradually clear. Moreover, some targeted therapeutic drugs, such as anti IL-5 monoclonal antibody (Mepolizumab) and anti CD 52 monoclonal antibody (Alemtuzumab) were also appeared. In this paper, the current basic and clinical researches of lymphocytic variant HE are reviewed.%嗜酸性粒细胞增多性疾病是一组异质性疾病,表现为血液以及组织中嗜酸性粒细胞持续性增多,并因嗜酸性粒细胞增殖所产生的炎症物质而造成微环境的改变和慢性不可逆的器官损害。世界卫生组织根据有无器官受累,将嗜酸性粒细胞增多性疾病分为嗜酸性粒细胞增多症(HE)和嗜酸性粒细胞增多综合征(HES)。除家族性HE外,又分为继发性(反应性)、原发性(克隆性)和特发性HE。而淋巴细胞变异型HE是继发性HE的一种特殊类型。随着对淋巴细胞变异型HE发生的分子机制的研究,其诊断逐渐明确,并且一些靶向治疗药物如抗IL-5单克隆抗体Mepolizumab、抗CD 52单克隆抗体Alemtuzumab也相继出现。文章综述淋巴细胞变异型HE的基础与临床现况。

  16. Neuroleptic malignant syndrome and clozapine withdrawal at the same time?

    Science.gov (United States)

    Margetić, Branimir; Aukst-Margetić, Branka

    2005-01-01

    The authors report a case of a patient, who in a few days after an abrupt discontinuation of clozapine and haloperidol developed agitated and confused state resembling neuroleptic malignant syndrome (NMS) and clozapine withdrawal symptoms at the same time. Data obtained from family members led to gradual reintroduction of clozapine and to subsequent recovery. The case illustrates the importance for clinicians to be familiar with the variety of discontinuation symptoms, so they can recognize them and offer effective treatment.

  17. Adults and Children with Asperger Syndrome: Exploring Adult Attachment Style, Marital Satisfaction and Satisfaction with Parenthood

    Science.gov (United States)

    Lau, Winnie; Peterson, Candida C.

    2011-01-01

    Asperger syndrome (AS) is a disorder resembling autism in its problems with social interaction and cognitive flexibility. Today, a number of adults with AS marry and rear children. Yet there has been little research into the quality of their marital and parental relationships. This study explored romantic attachment style, marital satisfaction and…

  18. [Episodic manifestation of hemiparkinson syndrome with severe dementia personality change and precursors of paranoid hallucination symptoms].

    Science.gov (United States)

    Postrach, F

    1989-09-01

    A case of episodic manifestation of semiparalysis agitans is described, accompanied by severe demential personality change and precursory hallucinatory symptoms, which is made the basis for the discussion of aspects of mental disorders, notably dementia and symptoms resembling schizophrenia, in Parkinsonian patients. By way of allusion to Glass, a diagnosis including a very extensive, complex, symptomatology is made of a Parkinsonian syndrome.

  19. Local Analogs for High-redshift Galaxies: Resembling the Physical Conditions of the Interstellar Medium in High-redshift Galaxies

    CERN Document Server

    Bian, Fuyan; Dopita, Michael; Juneau, Stephanie

    2016-01-01

    We present a sample of local analogs for high-redshift galaxies selected in the Sloan Digital Sky Survey (SDSS). The physical conditions of the interstellar medium (ISM) in these local analogs resemble those in high-redshift galaxies. These galaxies are selected based on their positions in the [OIII]/H$\\beta$ versus [NII]/H$\\alpha$ nebular emission-line diagnostic diagram. We show that these local analogs share similar physical properties with high-redshift galaxies, including high specific star formation rates (sSFRs), flat UV continuums and compact galaxy sizes. In particular, the ionization parameters and electron densities in these analogs are comparable to those in $z\\simeq2-3$ galaxies, but higher than those in normal SDSS galaxies by $\\simeq$0.6~dex and $\\simeq$0.9~dex, respectively. The mass-metallicity relation (MZR) in these local analogs shows $-0.2$~dex offset from that in SDSS star-forming galaxies at the low mass end, which is consistent with the MZR of the $z\\sim2-3$ galaxies. We compare the lo...

  20. Fetal mesenchymal stromal cells differentiating towards chondrocytes acquire a gene expression profile resembling human growth plate cartilage.

    Directory of Open Access Journals (Sweden)

    Sandy A van Gool

    Full Text Available We used human fetal bone marrow-derived mesenchymal stromal cells (hfMSCs differentiating towards chondrocytes as an alternative model for the human growth plate (GP. Our aims were to study gene expression patterns associated with chondrogenic differentiation to assess whether chondrocytes derived from hfMSCs are a suitable model for studying the development and maturation of the GP. hfMSCs efficiently formed hyaline cartilage in a pellet culture in the presence of TGFβ3 and BMP6. Microarray and principal component analysis were applied to study gene expression profiles during chondrogenic differentiation. A set of 232 genes was found to correlate with in vitro cartilage formation. Several identified genes are known to be involved in cartilage formation and validate the robustness of the differentiating hfMSC model. KEGG pathway analysis using the 232 genes revealed 9 significant signaling pathways correlated with cartilage formation. To determine the progression of growth plate cartilage formation, we compared the gene expression profile of differentiating hfMSCs with previously established expression profiles of epiphyseal GP cartilage. As differentiation towards chondrocytes proceeds, hfMSCs gradually obtain a gene expression profile resembling epiphyseal GP cartilage. We visualized the differences in gene expression profiles as protein interaction clusters and identified many protein clusters that are activated during the early chondrogenic differentiation of hfMSCs showing the potential of this system to study GP development.

  1. Design and evaluation of lipoprotein resembling curcumin-encapsulated protein-free nanostructured lipid carrier for brain targeting.

    Science.gov (United States)

    Meng, Fanfei; Asghar, Sajid; Xu, Yurui; Wang, Jianping; Jin, Xin; Wang, Zhilin; Wang, Jing; Ping, Qineng; Zhou, Jianping; Xiao, Yanyu

    2016-06-15

    Many nanoparticle matrixes have been demonstrated to be efficient in brain targeting, but there are still certain limitations for them. To overcome the shortcomings of the existing nanoparticulate systems for brain-targeted delivery, a lipoprotein resembling protein-free nanostructured lipid carrier (PS80-NLC) loaded with curcumin was constructed and assessed for in vitro and in vivo performance. Firstly, single factor at a time approach was employed to investigate the effects of various formulation factors. Mean particle sizes of ≤100nm, high entrapment efficiency (EE, about 95%) and drug loading (DL, >3%) were obtained for the optimized formulations. In vitro release studies in the presence of plasma indicated stability of the formulation under physiological condition. Compared with NLC, PS80-NLC showed noticeably higher affinity for bEnd.3 cells (1.56 folds greater than NLC) but with lower uptake in macrophages. The brain coronal sections showed strong and widely distributed fluorescence intensity of PS80-NLC than that of NLC in the cortex. Ex vivo imaging studies further confirmed that PS80-NLC could effectively permeate BBB and preferentially accumulate in the brain (2.38 times greater than NLC). The considerable in vitro and in vivo performance of the safe and biocompatible PS80-NLC makes it a suitable option for further investigations in brain targeted drug delivery.

  2. Structural changes upon peroxynitrite-mediated nitration of peroxiredoxin 2; nitrated Prx2 resembles its disulfide-oxidized form.

    Science.gov (United States)

    Randall, Lía; Manta, Bruno; Nelson, Kimberly J; Santos, Javier; Poole, Leslie B; Denicola, Ana

    2016-01-15

    Peroxiredoxins are cys-based peroxidases that function in peroxide detoxification and H2O2-induced signaling. Human Prx2 is a typical 2-Cys Prx arranged as pentamers of head-to-tail homodimers. During the catalytic mechanism, the active-site cysteine (CP) cycles between reduced, sulfenic and disulfide state involving conformational as well as oligomeric changes. Several post-translational modifications were shown to affect Prx activity, in particular CP overoxidation which leads to inactivation. We have recently reported that nitration of Prx2, a post-translational modification on non-catalytic tyrosines, unexpectedly increases its peroxidase activity and resistance to overoxidation. To elucidate the cross-talk between this post-translational modification and the enzyme catalysis, we investigated the structural changes of Prx2 after nitration. Analytical ultracentrifugation, UV absorption, circular dichroism, steady-state and time-resolved fluorescence were used to connect catalytically relevant redox changes with tyrosine nitration. Our results show that the reduced nitrated Prx2 structurally resembles the disulfide-oxidized native form of the enzyme favoring a locally unfolded conformation that facilitates disulfide formation. These results provide structural basis for the kinetic analysis previously reported, the observed increase in activity and the resistance to overoxidation of the peroxynitrite-treated enzyme. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Necrotizing meningoencephalitis of Pug dogs associates with dog leukocyte antigen class II and resembles acute variant forms of multiple sclerosis.

    Science.gov (United States)

    Greer, K A; Wong, A K; Liu, H; Famula, T R; Pedersen, N C; Ruhe, A; Wallace, M; Neff, M W

    2010-08-01

    Necrotizing meningoencephalitis (NME) is a disorder of Pug Dogs that appears to have an immune etiology and high heritability based on population studies. The present study was undertaken to identify a genetic basis for the disease. A genome-wide association scan with single tandem repeat (STR) markers showed a single strong association near the dog leukocyte antigen (DLA) complex on CFA12. Fine resolution mapping with 27 STR markers on CFA12 further narrowed association to the region containing DLA-DRB1, -DQA1 and, -DQB1 genes. Sequencing confirmed that affected dogs were more likely to be homozygous for specific alleles at each locus and that these alleles were linked, forming a single high risk haplotype. The strong DLA class II association of NME in Pug Dogs resembles that of human multiple sclerosis (MS). Like MS, NME appears to have an autoimmune basis, involves genetic and nongenetic factors, has a relatively low incidence, is more frequent in females than males, and is associated with a vascularly orientated nonsuppurative inflammation. However, NME of Pug Dogs is more aggressive in disease course than classical human MS, appears to be relatively earlier in onset, and involves necrosis rather than demyelination as the central pathobiologic feature. Thus, Pug Dog encephalitis (PDE) shares clinical features with the less common acute variant forms of MS. Accordingly, NME of Pug Dogs may represent a naturally occurring canine model of certain idiopathic inflammatory disorders of the human central nervous system.

  4. Bruck 88 : a young star cluster with an old age resemblance in the outskirts of the Small Magellanic Cloud

    CERN Document Server

    Piatti, Andrés E

    2014-01-01

    We present spectroscopic and photometric results for the Small Magellanic Cloud (SMC) cluster Bruck 88. From the comparison of the cluster integrated spectrum with template cluster spectra we found that the Milky Way globular cluster template spectra are the ones which best resemble it. However, the extracted cluster colour magnitude diagram reveals that Bruck 88 is a young cluster (log(t) = 8.1 +- 0.1). The derived cluster age is compatible with the presence of a Bright Red Giant (BRG) star located ~ 2.6 arcsec in the sky from the cluster centre. We serendipitously observed HW 33, a star cluster located ~ 3 arcmin to the south-east from Bruck 88. We obtained for the cluster the same age than Bruck 88 and surprisingly, a BRG star located within the cluster radius also appears to be compatible with the cluster age. We estimated the MK type of the BRG star in the Bruck 88 field to be in the range G9 II/Ib - K1 III. By combining the spectrum of a star within this MK type range with a 100-150 Myr template cluster...

  5. Solution structures of the linear leaderless bacteriocins enterocin 7A and 7B resemble carnocyclin A, a circular antimicrobial peptide.

    Science.gov (United States)

    Lohans, Christopher T; Towle, Kaitlyn M; Miskolzie, Mark; McKay, Ryan T; van Belkum, Marco J; McMullen, Lynn M; Vederas, John C

    2013-06-11

    Leaderless bacteriocins are a class of ribosomally synthesized antimicrobial peptides that are produced by certain Gram-positive bacteria without an N-terminal leader section. These bacteriocins are of great interest due to their potent inhibition of many Gram-positive organisms, including food-borne pathogens such as Listeria and Clostridium spp. We now report the NMR solution structures of enterocins 7A and 7B, leaderless bacteriocins recently isolated from Enterococcus faecalis 710C. These are the first three-dimensional structures to be reported for bacteriocins of this class. Unlike most other linear Gram-positive bacteriocins, enterocins 7A and 7B are highly structured in aqueous conditions. Both peptides are primarily α-helical, adopting a similar overall fold. The structures can be divided into three separate α-helical regions: the N- and C-termini are both α-helical, separated by a central kinked α-helix. The overall structures bear an unexpected resemblance to carnocyclin A, a 60-residue peptide that is cyclized via an amide bond between the C- and N-termini and has a saposin fold. Because of synergism observed for other two-peptide leaderless bacteriocins, it was of interest to probe possible binding interactions between enterocins 7A and 7B. However, despite synergistic activity observed between these peptides, no significant binding interaction was observed based on NMR and isothermal calorimetry.

  6. 2MASS J035523.37+113343.7: A YOUNG, DUSTY, NEARBY, ISOLATED BROWN DWARF RESEMBLING A GIANT EXOPLANET

    Energy Technology Data Exchange (ETDEWEB)

    Faherty, Jacqueline K. [Department of Astronomy, Universidad de Chile Cerro Calan, Las Condes (Chile); Rice, Emily L.; Cruz, Kelle L.; Nunez, Alejandro [Department of Astrophysics , American Museum of Natural History, Central Park West at 79th Street, New York, NY 10034 (United States); Mamajek, Eric E., E-mail: jfaherty17@gmail.com, E-mail: jfaherty@amnh.org [Cerro Tololo Inter-American Observatory, Casilla 603, La Serena (Chile)

    2013-01-01

    We present parallax and proper motion measurements, near-infrared spectra, and Wide-field Infrared Survey Explorer photometry for the low surface gravity L5{gamma} dwarf 2MASS J035523.37+113343.7 (2M0355). We use these data to evaluate photometric, spectral, and kinematic signatures of youth as 2M0355 is the reddest isolated L dwarf yet classified. We confirm its low-gravity spectral morphology and find a strong resemblance to the sharp triangular shaped H-band spectrum of the {approx}10 Myr planetary-mass object 2M1207b. We find that 2M0355 is underluminous compared to a normal field L5 dwarf in the optical and Mauna Kea Observatory J, H, and K bands and transitions to being overluminous from 3 to 12 {mu}m, indicating that enhanced photospheric dust shifts flux to longer wavelengths for young, low-gravity objects, creating a red spectral energy distribution. Investigating the near-infrared color-magnitude diagram for brown dwarfs confirms that 2M0355 is redder and underluminous compared to the known brown dwarf population, similar to the peculiarities of directly imaged exoplanets 2M1207b and HR8799bcd. We calculate UVW space velocities and find that the motion of 2M0355 is consistent with young disk objects (<2-3 Gyr) and it shows a high likelihood of membership in the AB Doradus association.

  7. 2MASSJ035523.51+113337.4: A Young, Dusty, Nearby, Isolated Brown Dwarf Resembling A Giant Exoplanet

    CERN Document Server

    Faherty, Jacqueline K; Cruz, Kelle L; Mamajek, Eric E; Núñez, Alejandro

    2012-01-01

    We present parallax and proper motion measurements, near-infrared spectra, and WISE photometry for the low surface gravity L5gamma dwarf 2MASSJ035523.51+113337.4 (2M0355). We use these data to evaluate photometric, spectral, and kinematic signatures of youth. We confirm low-gravity spectral morphology and find a strong resemblance to the sharp triangular shaped H-band spectrum of the ~10 Myr planetary-mass object 2MASSJ1207b. We find that 2M0355 is underluminous compared to a normal field L5 dwarf in the optical and MKO J,H, and K bands and transitions to being overluminous from 3-12 microns indicating that enhanced photospheric dust shifts flux to longer wavelengths for young, low-gravity objects, creating a red spectral energy distribution. Investigating the near-infrared color magnitude diagram for brown dwarfs confirms that 2M0355 is redder and underluminous compared to the known brown dwarf population, similar to the peculiarities of directly imaged exoplanets 2MASSJ1207b and HR8799bcd. We calculate UVW ...

  8. Production and Distribution of 44Ti and 56Ni in a Three-dimensional Supernova Model Resembling Cassiopeia A

    CERN Document Server

    Wongwathanarat, A; Mueller, E; Pllumbi, E; Wanajo, S

    2016-01-01

    The spatial and velocity distributions of nuclear species synthesized in the innermost regions of core-collapse supernovae (SNe) can yield important clues about explosion asymmetries and the operation of the still disputed explosion mechanism. Recent observations of radioactive 44Ti with high-energy satellite telescopes (NuSTAR, INTEGRAL) have measured gamma-ray line details, which provide direct evidence of large-scale explosion asymmetries in Supernova 1987A, and in Cassiopeia A (Cas A) even by mapping of the spatial brightness distribution (NuSTAR). Here, we discuss a three-dimensional (3D) simulation of a neutrino-driven explosion, using a parametrized neutrino engine, whose 44Ti distribution is mostly concentrated in one hemisphere pointing opposite to the neutron-star (NS) kick velocity. Both exhibit intriguing resemblance to the observed morphology of the Cas A remnant, although neither progenitor nor explosion were fine-tuned for a perfect match. Our results demonstrate that the asymmetries observed i...

  9. A new mouse model resembling human diabetic nephropathy: uncoupling of VEGF with eNOS as a novel pathogenic mechanism.

    Science.gov (United States)

    Nakagawa, T

    2009-02-01

    Diabetics develop a variety of histological abnormalities in the kidney. Early features include glomerular hypertrophy, glomerular basement membrane thickening, and mesangial expansion, whereas mesangiolysis, glomerular capillary aneurysm and nodular lesions develop in late phase. The goal of preventing diabetic nephropathy is important, but its achievement has been difficult due in part to a lack of an animal model for human diabetic nephropathy. Most animal models develop mild lesions in early phase diabetes, but not advanced lesions in late phase. Vascular endothelial growth factor (VEGF) mediates diabetic nephropathy, but its precise role remains to be determined. A complexity of VEGF function is that it is protective in nondiabetic renal diseases but is deleterious in diabetic nephropathy. Because diabetes is associated with endothelial dysfunction, we hypothesized that VEGF is deleterious in the setting of endothelial dysfunction. To test this hypothesis, we recently developed a new model of diabetic nephropathy in mice deficient in endothelial nitric oxide synthase (eNOS). Importantly, these mice developed the advanced lesions of diabetic nephropathy resembling to those in human diabetic nephropathy. In addition, these models also exhibit an uncoupling condition of VEGF with NO. In this review, we discuss our hypothesis which is that uncoupling of VEGF with NO causes advanced diabetic nephropathy.

  10. Phenotypically resembling myeloid derived suppressor cells are increased in children with HIV and exposed/infected with Mycobacterium tuberculosis.

    Science.gov (United States)

    Du Plessis, Nelita; Jacobs, Ruschca; Gutschmidt, Andrea; Fang, Zhuo; van Helden, Paul D; Lutz, Manfred B; Hesseling, Anneke C; Walzl, Gerhard

    2017-01-01

    Increased disease susceptibility during early life has been linked to immune immaturity, regulatory T-cell/TH2 immune biasing and hyporesponsiveness. The contribution of myeloid derived suppressor cells (MDSCs) remains uninvestigated. Here, we assessed peripheral MDSC in HIV-infected and -uninfected children with tuberculosis (TB) disease before, during and after TB treatment, along with matched household contacts (HHCs), HIV-exposed, -infected and -uninfected children without recent TB exposure. Serum analytes and enzymes associated with MDSC accumulation/activation/function were measured by colorimetric- and fluorescence arrays. Peripheral frequencies of cells phenotypically resembling MDSCs were significantly increased in HIV-exposed uninfected (HEU) and M.tb-infected children, but peaked in children with TB disease and remained high following treatment. MDSC in HIV-infected (HI) children were similar to unexposed uninfected controls; however, HAART-mediated MDSC restoration to control levels could not be disregarded. Increased MDSC frequencies in HHC coincided with enhanced indoleamine-pyrrole-2,3-dioxygenase (IDO), whereas increased MDSC in TB cases were linked to heightened IDO and arginase-1. Increased MDSC were paralleled by reduced plasma IP-10 and thrombospondin-2 levels in HEU and significantly increased plasma IL-6 in HI HHC. Current investigations into MDSC-targeted treatment strategies, together with functional analyses of MDSCs, could endorse these cells as novel innate immune regulatory mechanism of infant HIV/TB susceptibility. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  11. [Autoinflammatory syndromes/fever syndromes].

    Science.gov (United States)

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

    2011-05-01

    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1β. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned.

  12. Marfan syndrome

    Science.gov (United States)

    ... at least once every year. Alternative Names Aortic aneurysm - ... syndrome. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 702. ...

  13. Reye Syndrome

    Science.gov (United States)

    ... A Life After Diagnosis Support for Chronic Illness Corporate Partnerships Interview with Kristen Hanks Liver Lowdown July ... poor blood clotting and bleeding caused by liver failure. What are the symptoms of Reye syndrome? Reye ...

  14. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  15. Premenstrual syndrome

    National Research Council Canada - National Science Library

    Kwan, Irene; Onwude, Joseph Loze

    2015-01-01

    A woman has premenstrual syndrome (PMS) if she complains of recurrent psychological and/or physical symptoms occurring during the luteal phase of the menstrual cycle, and often resolving by the end of menstruation...

  16. Zellweger Syndrome

    Science.gov (United States)

    ... done? The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, ...

  17. Autoinflammatory syndromes.

    Science.gov (United States)

    Galeazzi, M; Gasbarrini, G; Ghirardello, A; Grandemange, S; Hoffman, H M; Manna, R; Podswiadek, M; Punzi, L; Sebastiani, G D; Touitou, I; Doria, A

    2006-01-01

    The autoinflammatory disorders are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen specific T cells. These disorders are caused by primary dysfunction of the innate immune system, without evidence of adaptive immune dysregulation. Innate immune abnormalities include aberrant responses to pathogen associated molecular patterns (PAMPs) like lipopolysaccharide and peptidoglycan, prominent neutrophilia in blood and tissues, and dysregulation of inflammatory cytokines (IL-1beta, TNF-alpha) or their receptors. The autoinflammatory diseases comprise both hereditary (Familial Mediterranean Fever, FMF; Mevalonate Kinase Deficiency, MKD; TNF Receptor Associated Periodic Syndrome, TRAPS; Cryopyrin Associated Periodic Syndrome, CAPS; Blau syndrome; Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, PAPA; Chronic Recurrent Multifocal Osteomyelitis, CRMO) and multifactorial (Crohn's and Behçet's diseases) disorders. Mutations responsible for FMF, TRAPS, CAPS, PAPA are in proteins involved in modulation of inflammation and apoptosis.

  18. Piriformis Syndrome

    Science.gov (United States)

    ... of sitting for a long period of time, climbing stairs, walking, or running. × Definition Piriformis syndrome is a ... of sitting for a long period of time, climbing stairs, walking, or running. View Full Definition Treatment Generally, ...

  19. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart,...

  20. Bart syndrome

    Directory of Open Access Journals (Sweden)

    Gaikwad Anil

    1993-01-01

    Full Text Available An infant presenting with extensive aplasia cutis on lower extremities later developed blisters on skin and mucous membrane. Clinical features and histopathological examination of skin favoured the diagnosis of Bart syndrome.

  1. Neurocutaneous Syndromes

    Science.gov (United States)

    ... affect kids include: neurofibromatosis, types 1 and 2 (NF1 and NF2) Sturge-Weber syndrome tuberous sclerosis (TS) ... forms of this disorder are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and Schwannomatosis. NF1 is ...

  2. Usher Syndrome

    Science.gov (United States)

    ... optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, ... syndrome gene have a child together, with each birth there is a: 1-in-4 chance of ...

  3. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne;

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  4. Beals Syndrome

    Science.gov (United States)

    ... arachnoldactyly (CCA), which refers to the joint contractures (shortening) that are key features of the syndrome. How ... remain contracted for long periods of time, the muscles can become tight and short, restricting movement. When ...

  5. Isaac's Syndrome

    Science.gov (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  6. Noonan syndrome

    Science.gov (United States)

    ... chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Exams and Tests ... to consider genetic counseling before having children. Images Pectus excavatum References Ali O, Donohoue PA. Noonan syndrome. In: ...

  7. Dressler's Syndrome

    Science.gov (United States)

    ... syndrome can cause more-serious complications, including: Cardiac tamponade. Inflammation of the pericardium can cause fluids to ... including: Draining excess fluids. If you develop cardiac tamponade, your doctor will likely recommend a procedure (pericardiocentesis) ...

  8. [Mobius syndrome].

    Science.gov (United States)

    Vladuţiu, Cristina; Duma, Ionela

    2012-01-01

    Mobius syndrom, an anomaly in cranial nerve developement, presents with a remarkable clinical polymorphism. The rare occurence of this pathology and the questions raised by the diagnosis and treatment determined us to make this presentation.

  9. Down Syndrome

    Science.gov (United States)

    ... Diagnostic tests that can identify Down syndrome include: Amniocentesis. A sample of the amniotic fluid surrounding the ... somewhat higher risk of miscarriage than second trimester amniocentesis. Cordocentesis. In this test, also known as percutaneous ...

  10. Metabolic syndrome

    Science.gov (United States)

    ... obesity ). This body type may be described as "apple-shaped." Insulin resistance. Insulin is a hormone produced ... Syndrome Browse the Encyclopedia A.D.A.M., Inc. is accredited by URAC, also known as the ...

  11. Dermatomyositis-like syndrome in x-linked agammaglobulinemia

    Directory of Open Access Journals (Sweden)

    Pedro David Carvalho

    2016-01-01

    Full Text Available Primary immunodeficiencies (PIDs encompass more than 250 different pathological conditions. X-linked agammaglobulinemia (XLA has been occasionally associated with cutaneous and muscular manifestations resembling dermatomyositis, often termed dermatomyositis-like syndrome (DLS. This syndrome has been associated with cutaneous, muscular and central nervous system manifestations, accompanying a persistent infection by an Echovirus. According to sixteen previously reported cases, this syndrome has a poor prognosis. We report the case of a 27-years old male, with XLA and DLS, successfully treated with 6 cycles of human immunoglobulin and methotrexate. Clinical symptoms improved dramatically with a complete resolution of the musculoskeletal manifestations. Despite this clinical response, prognosis should remain reserved. The evolution of this syndrome remains unpredictable and therapeutic options are limited. To the best of our knowledge, there are only a few reports of similar cases which have survived so many months after the diagnosis.

  12. Histopathology confirms white-nose syndrome in bats in Europe

    Science.gov (United States)

    Pikula, J.; Bandouchova, H.; Novotny, L.; Meteyer, C.U.; Zukal, J.; Irwin, N.R.; Zima, J.; Martinkova, N.

    2012-01-01

    White-nose syndrome, associated with the fungal skin infection geomycosis, caused regional population collapse in bats in North America. Our results, based on histopathology, show the presence of white-nose syndrome in Europe. Dermatohistopathology on two bats (Myotis myotis) found dead in March 2010 with geomycosis in the Czech Republic had characteristics resembling Geomyces destructans infection in bats confirmed with white-nose syndrome in US hibernacula. In addition, a live M. myotis, biopsied for histopathology during hibernation in April 2011, had typical fungal infection with cupping erosion and invasion of muzzle skin diagnostic for white-nose syndrome and conidiospores identical to G. destructans that were genetically confirmed as G. destructans. ?? Wildlife Disease Association 2012.

  13. Eagle's Syndrome

    OpenAIRE

    Pinheiro, Thaís Gonçalves; Soares,Vítor Yamashiro Rocha; Ferreira,Denise Bastos Lage; Raymundo,Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic...

  14. SAPHO syndrome.

    Science.gov (United States)

    Carneiro, Sueli; Sampaio-Barros, Percival D

    2013-05-01

    SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. As the osteoarticular and skin manifestations often do not occur simultaneously and there are no validated diagnostic criteria, the diagnosis can be difficult. Clinical and imaging investigation is necessary to establish the many differential diagnoses of SAPHO syndrome. The etiopathogenesis involves infectious (probably Propionibacterium acnes), immunologic, and genetic factors. Treatment is based on information gathered from case reports and small series, and is related to specific skin or articular symptoms.

  15. Carpenter syndrome.

    Science.gov (United States)

    Hidestrand, Pip; Vasconez, Henry; Cottrill, Carol

    2009-01-01

    Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of these syndromes: craniosynostosis (skull base abnormalities, with early fusion in different sutures), midface hypoplasia, and musculoskeletal abnormalities. Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106). The brachycephaly is caused by early fusion in the coronal, sagittal, and lambdoidal sutures (Proc R Soc Med Sect Study Dis Child 1909). Most of the affected patients have a surgical procedure between 3 to 9 months of age to open the cranial vault to make space for the brain to grow (Plast Reconstr Surg 1978;62:335). We present a patient with Carpenter syndrome who is unusual in that she is an adult who has never had surgical intervention.

  16. Metabolic Syndrome (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome A A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  17. Down Syndrome (For Kids)

    Science.gov (United States)

    ... CPR: A Real Lifesaver Kids Talk About: Coaches Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  18. Juvenile Polyposis Syndrome

    Science.gov (United States)

    ... Types of Cancer > Juvenile Polyposis Syndrome Request Permissions Juvenile Polyposis Syndrome Approved by the Cancer.Net Editorial Board , 12/2015 What is juvenile polyposis syndrome? Juvenile polyposis syndrome (JPS) is a ...

  19. Cardiac Syndrome X

    Science.gov (United States)

    ... Kawasaki Disease Long Q-T Syndrome Marfan Syndrome Metabolic Syndrome Mitral Valve Prolapse Myocardial Bridge Myocarditis Obstructive Sleep Apnea Pericarditis Peripheral Vascular Disease Rheumatic Fever Sick Sinus Syndrome Silent Ischemia Stroke Sudden ...

  20. Exogenous Cushing syndrome

    Science.gov (United States)

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the ...

  1. What is Metabolic Syndrome?

    Science.gov (United States)

    ... from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of ... that may play a role in causing metabolic syndrome. Outlook Metabolic syndrome is becoming more common due to a ...

  2. Learning about WAGR Syndrome

    Science.gov (United States)

    ... used are: WAGR Complex Wilms' Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Wilms' Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Chromosome 11p deletion syndrome 11p deletion syndrome The cause ...

  3. Escobar syndrome mimicing congenital patellar syndrome

    National Research Council Canada - National Science Library

    Ezirmik, Naci; Yildiz, Kadri; Can, Cahit Emre

    2012-01-01

    ...) syndrome is a rare syndrome. Intrauterin growth reterdation, abnormal face, wide-spead pterygiums that resulted in joint contractures, ptosis, chryptoorchidism, patellar dysplasia and foot deformities are seen on this syndrome...

  4. Idiopathic ophthalmodynia and idiopathic rhinalgia: two topographic facial pain syndromes.

    Science.gov (United States)

    Pareja, Juan A; Cuadrado, María L; Porta-Etessam, Jesús; Fernández-de-las-Peñas, César; Gili, Pablo; Caminero, Ana B; Cebrián, José L

    2010-09-01

    To describe 2 topographic facial pain conditions with the pain clearly localized in the eye (idiopathic ophthalmodynia) or in the nose (idiopathic rhinalgia), and to propose their distinction from persistent idiopathic facial pain. Persistent idiopathic facial pain, burning mouth syndrome, atypical odontalgia, and facial arthromyalgia are idiopathic facial pain syndromes that have been separated according to topographical criteria. Still, some other facial pain syndromes might have been veiled under the broad term of persistent idiopathic facial pain. Through a 10-year period we have studied all patients referred to our neurological clinic because of facial pain of unknown etiology that might deviate from all well-characterized facial pain syndromes. In a group of patients we have identified 2 consistent clinical pictures with pain precisely located either in the eye (n=11) or in the nose (n=7). Clinical features resembled those of other localized idiopathic facial syndromes, the key differences relying on the topographic distribution of the pain. Both idiopathic ophthalmodynia and idiopathic rhinalgia seem specific pain syndromes with a distinctive location, and may deserve a nosologic status just as other focal pain syndromes of the face. Whether all such focal syndromes are topographic variants of persistent idiopathic facial pain or independent disorders remains a controversial issue.

  5. Specificity of lectin-immobilized fluorescent nanospheres for colorectal tumors in a mouse model which more resembles the clinical disease

    Science.gov (United States)

    Kitamura, Tokio; Sakuma, Shinji; Shimosato, Moe; Higashino, Haruki; Masaoka, Yoshie; Kataoka, Makoto; Yamashita, Shinji; Hiwatari, Ken-ichiro; Kumagai, Hironori; Morimoto, Naoki; Koike, Seiji; Tobita, Etsuo; Hoffman, Robert M.; Gore, John C.; Pham, Wellington

    2014-01-01

    We are investigating an imaging agent that enables real-time and accurate diagnosis of early colorectal cancer at the intestinal mucosa by colonoscopy. The imaging agent is peanut agglutinin-immobilized polystyrene nanospheres with surface poly(N-vinylacetamide) chains encapsulating coumarin 6. Intracolonically-administered lectin-immobilized fluorescent nanospheres detect tumor-derived changes through molecular recognition of lectin for the terminal sugar of cancer-specific antigens on the mucosal surface. The focus of this study was to evaluate imaging abilities of the nanospheres in animal models that reflect clinical environments. We previously developed an orthotopic mouse model with human colorectal tumors growing on the mucosa of the descending colon to more resemble the clinical disease. The entire colon of the mice in the exposed abdomen was monitored in real-time with an in vivo imaging apparatus. Fluorescence from the nanospheres was observed along the entire descending colon after intracolonical administration of them from the anus. When the luminal side of the colon was washed with PBS, most of the nanospheres drained away. However, fluorescence persisted in areas where the cancer cells were implanted. Histological evaluation demonstrated that tumors were present in the mucosal epithelia where the nanospheres fluoresced. In contrast, no fluorescence was observed when control mice without tumors were tested. The lectin-immobilized fluorescent nanospheres were tumor specific and bound to tumors even after vigorously washing. The nanospheres non-specifically bound to normal mucosa were easily removed through mild washing. Results indicate that the nanospheres accompanied by colonoscopy will be a clinically-valuable diagnostic tool for the early stage primary colon carcinoma. PMID:24976331

  6. Altered synaptic phospholipid signaling in PRG-1 deficient mice induces exploratory behavior and motor hyperactivity resembling psychiatric disorders.

    Science.gov (United States)

    Schneider, Patrick; Petzold, Sandra; Sommer, Angela; Nitsch, Robert; Schwegler, Herbert; Vogt, Johannes; Roskoden, Thomas

    2017-08-24

    Plasticity related gene 1 (PRG-1) is a neuron specific membrane protein located at the postsynaptic density of glutamatergic synapses. PRG-1 modulates signaling pathways of phosphorylated lipid substrates such as lysophosphatidic acid (LPA). Deletion of PRG-1 increases presynaptic glutamate release probability leading to neuronal over-excitation. However, due to its cortical expression, PRG-1 deficiency leading to increased glutamatergic transmission is supposed to also affect motor pathways. We therefore analyzed the effects of PRG-1 function on exploratory and motor behavior using homozygous PRG-1 knockout (PRG-1(-/-)) mice and PRG-1/LPA2-receptor double knockout (PRG-1(-/-)/LPA2(-/-)) mice in two open field settings of different size and assessing motor behavior in the Rota Rod test. PRG-1(-/-) mice displayed significantly longer path lengths and higher running speed in both open field conditions. In addition, PRG-1(-/-) mice spent significantly longer time in the larger open field and displayed rearing and self-grooming behavior. Furthermore PRG-1(-/-) mice displayed stereotypical behavior resembling phenotypes of psychiatric disorders in the smaller sized open field arena. Altogether, this behavior is similar to the stereotypical behavior observed in animal models for psychiatric disease of autistic spectrum disorders which reflects a disrupted balance between glutamatergic and GABAergic synapses. These differences indicate an altered excitation/inhibition balance in neuronal circuits in PRG-1(-/-) mice as recently shown in the somatosensory cortex [38]. In contrast, PRG-1(-/-)/LPA2(-/-) did not show significant changes in behavior in the open field suggesting that these specific alterations were abolished when the LPA2-receptor was lacking. Our findings indicate that PRG-1 deficiency led to over-excitability caused by an altered LPA/LPA2-R signaling inducing a behavioral phenotype typically observed in animal models for psychiatric disorders. Copyright

  7. A data collection method resembling continuous-mode SPECT. Use of two-degree step projection data

    Energy Technology Data Exchange (ETDEWEB)

    Takahashi, Yasuyuki; Shinbata, Hiroyuki [Ehime Prefectural Central Hospital (Japan); Shinohara, Hisashi

    1998-08-01

    Continuous-mode SPECT can be characterized by the collection of data using movable detectors. We examined the effects of movement of the detector on SPECT images. Projection data collected in step mode at a sampling angle of 2 degrees were serially added, and images at sampling angles of 4, 6, 8, and 10 degrees were reconstructed. In this manner, data were collected using a method resembling continuous-mode SPECT. Our experiment using phantoms revealed that, as the sampling angle increased, the resolution of hot spots in the periphery of the columnar phantom decreased slightly, and that the relationship between the sampling angle and the variance of the data in a given direction of projection was defined by a regression equation of y=0.51x+47.66 (r=0.98). When a myocardial phantom was used, the imaged area of the defect created in the anterior wall increased as the sampling angle increased (y=12.63x+78.54; r=0.99), when the imaged area at a sampling angle of 2 degrees was set at 100%. No changes were observed in the ability to obtain images of the area near the center of the columnar phantom, the ability to obtain images of the defect in the inferior wall of the myocardial phantom, or the quality of the image of normal myocardium obtained by Tc-99m Tetrofosmin SPECT. These results suggest that although this method is not equivalent to continuous-mode SPECT, its resolution in the tangential direction and its ability to image in this direction are affected by the movement of the detectors and that these effects are associated with the sampling angle. (author)

  8. Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly.

    Science.gov (United States)

    Inoue, Takashi; Ogawa, Masaharu; Mikoshiba, Katsuhiko; Aruga, Jun

    2008-04-30

    The formation of the highly organized cortical structure depends on the production and correct placement of the appropriate number and types of neurons. The Zic family of zinc-finger transcription factors plays essential roles in regulating the proliferation and differentiation of neuronal progenitors in the medial forebrain and the cerebellum. Examination of the expression of Zic genes demonstrated that Zic1, Zic2, and Zic3 were expressed by the progenitor cells in the septum and cortical hem, the sites of generation of the Cajal-Retzius (CR) cells. Immunohistochemical studies have revealed that Zic proteins were abundantly expressed in the meningeal cells and that the majority of the CR cells distributed in the medial and dorsal cortex also expressed Zic proteins in the mid-late embryonic and postnatal cortical marginal zones. During embryonic cortical development, Zic1/Zic3 double-mutant and hypomorphic Zic2 mutant mice showed a reduction in the number of CR cells in the rostral cortex, whereas the cell number remained unaffected in the caudal cortex. These mutants also showed mislocalization of the CR cells and cortical lamination defects, resembling the changes noted in type II (cobblestone) lissencephaly, throughout the brain. In the Zic1/3 mutant, reduced proliferation of the meningeal cells was observed before the thinner and disrupted organization of the pial basement membrane (BM) with reduced expression of the BM components and the meningeal cell-derived secretory factor. These defects correlated with the changes in the end feet morphology of the radial glial cells. These findings indicate that the Zic genes play critical roles in cortical development through regulating the proliferation of meningeal cells and the pial BM assembly.

  9. Production and Distribution of 44Ti and 56Ni in a Three-dimensional Supernova Model Resembling Cassiopeia A

    Science.gov (United States)

    Wongwathanarat, Annop; Janka, Hans-Thomas; Müller, Ewald; Pllumbi, Else; Wanajo, Shinya

    2017-06-01

    The spatial and velocity distributions of nuclear species synthesized in the innermost regions of core-collapse supernovae can yield important clues about explosion asymmetries and the operation of the still disputed explosion mechanism. Recent observations of radioactive 44Ti with high-energy satellite telescopes (Nuclear Spectroscopic Telescope Array [NuSTAR], INTEGRAL) have measured gamma-ray line details, which provide direct evidence of large-scale explosion asymmetries in SN 1987A and in Cassiopeia A (Cas A) even by mapping of the spatial brightness distribution (NuSTAR). Here we discuss a 3D simulation of a neutrino-driven explosion, using a parameterized neutrino engine, whose 44Ti distribution is mostly concentrated in one hemisphere pointing opposite to the neutron star (NS) kick velocity. Both exhibit intriguing resemblance to the observed morphology of the Cas A remnant, although neither the progenitor nor the explosion was fine-tuned for a perfect match. Our results demonstrate that the asymmetries observed in this remnant can, in principle, be accounted for by a neutrino-driven explosion, and that the high 44Ti abundance in Cas A may be explained without invoking rapid rotation or a jet-driven explosion, because neutrino-driven explosions generically eject large amounts of high-entropy matter. The recoil acceleration of the NS is connected to mass ejection asymmetries and is opposite to the direction of the stronger explosion, fully compatible with the gravitational tugboat mechanism. Our results also imply that Cas A and SN 1987A could possess similarly "one-sided" Ti and Fe asymmetries, with the difference that Cas A is viewed from a direction with large inclination angle to the NS motion, whereas the NS in SN 1987A should have a dominant velocity component pointing toward us.

  10. Rhythmicity in mice selected for extremes in stress reactivity: behavioural, endocrine and sleep changes resembling endophenotypes of major depression.

    Directory of Open Access Journals (Sweden)

    Chadi Touma

    Full Text Available BACKGROUND: Dysregulation of the hypothalamic-pituitary-adrenal (HPA axis, including hyper- or hypo-activity of the stress hormone system, plays a critical role in the pathophysiology of mood disorders such as major depression (MD. Further biological hallmarks of MD are disturbances in circadian rhythms and sleep architecture. Applying a translational approach, an animal model has recently been developed, focusing on the deviation in sensitivity to stressful encounters. This so-called 'stress reactivity' (SR mouse model consists of three separate breeding lines selected for either high (HR, intermediate (IR, or low (LR corticosterone increase in response to stressors. METHODOLOGY/PRINCIPLE FINDINGS: In order to contribute to the validation of the SR mouse model, our study combined the analysis of behavioural and HPA axis rhythmicity with sleep-EEG recordings in the HR/IR/LR mouse lines. We found that hyper-responsiveness to stressors was associated with psychomotor alterations (increased locomotor activity and exploration towards the end of the resting period, resembling symptoms like restlessness, sleep continuity disturbances and early awakenings that are commonly observed in melancholic depression. Additionally, HR mice also showed neuroendocrine abnormalities similar to symptoms of MD patients such as reduced amplitude of the circadian glucocorticoid rhythm and elevated trough levels. The sleep-EEG analyses, furthermore, revealed changes in rapid eye movement (REM and non-REM sleep as well as slow wave activity, indicative of reduced sleep efficacy and REM sleep disinhibition in HR mice. CONCLUSION/SIGNIFICANCE: Thus, we could show that by selectively breeding mice for extremes in stress reactivity, clinically relevant endophenotypes of MD can be modelled. Given the importance of rhythmicity and sleep disturbances as biomarkers of MD, both animal and clinical studies on the interaction of behavioural, neuroendocrine and sleep parameters may

  11. Acetylene Resembling Effect of Ethylene on Seed Germination: Evaluating the Effect of Acetylene Released from Calcium Carbide

    Directory of Open Access Journals (Sweden)

    Kambiz MASHAYEKHI

    2015-09-01

    Full Text Available Some vegetable seeds need a very long time to germinate. In these kinds of seeds the second phase of germination is very long. As acetylene’s chemical structure is almost similar to the gaseous hormone ethylene, its’ physiological effect on seed germination should be very similar as well. Therefore, an experiment was established in order to enhance seed germination, by treating seeds with acetylene released from interaction of calcium carbide (CaC2 with water (H2O. A simple system was designed for efficient and proper use of gaseous acetylene resulted from the two substrates interaction, which conducted the produced gas obtained inside the interaction chamber into a sealed container wherein seeds were floating in water. This experiment aimed to evaluate the effect of one concentration of acetylene with different exposure periods (between 1 to 8 hours on parsley, celery and Swees chard seeds’ germination (chosen as late germinating vegetables. The effect of acetylene on seed germination speed and percent was investigated. There were significant differences in both percent and speed of germination within the various treatments. By floating for 3, 5 and 3 hours for parsley, celery and Swiss chard respectively, the highest germination rates were observed. The highest germination speed was achieved by 5, 5 and 3 hours floating respectively for parsley, celery and Swiss chard. Based on the results obtained, the current experiment suggests that acetylene has positive effect on enhancing seed germination of named vegetables, and played the role of ethylene, its effects resembling in regard to seed germination process.

  12. Atypical Cogan's syndrome associated with coronary disease

    Institute of Scientific and Technical Information of China (English)

    Ivanovic Branislava; Tadic Marijana; Damjanov Nemanja; Simic Dragan; Zlatanovic Maja

    2011-01-01

    Cogan's syndrome (CS) is a rare inflammatory disorder characterized by interstitial keratitis and vestibuloauditory abnormalities often associated with various systemic manifestations. Involvement of cardiovascular system resembling systemic vasculitis may lead to severe complications and death. The present report describes a case of a female patient with atypical Cogan's syndrome presented with systemic manifestations and severe coronary and femoral artery stenosis.Despite the clinical improvement after glucocorticoids and cyclophosphamide, the patient required double aortocoronal bypass grafting one year letter. During three years follow-up, she was in stable condition, without stenocardial symptoms and claudication and her inflammatory parameters remain normal. This case highlights the rare involvement of coronary arteries without associated large-vessel vasculitis of the aortic arch in CS.

  13. Malignant syndrome in Parkinson′s disease without dopaminergic drug withdrawal

    Directory of Open Access Journals (Sweden)

    Suresh Chandran C

    2008-01-01

    Full Text Available Malignant syndrome is a rare complication occurring during the course of drug treatment for Parkinson′s disease. It resembles neuroleptic malignant syndrome and is characterized by fever, marked rigidity, altered consciousness, leucocytosis and elevated creatine kinase. Malignant syndrome is a potentially fatal condition and awareness of this condition is imperative for prevention and treatment. The commonest precipitating factor is dopaminergic drug withdrawal or dose reduction. We report malignant syndrome (precipitated by hyponatremia in a case of Parkinson′s disease, in the absence of dopaminergic drug withdrawal. A 60-year-old man presented with fever, severe rigidity and altered sensorium following repeated vomiting. On investigation, he was found to have hyponatremia precipitated malignant syndrome. Treatment with hydration, cooling, correction of hyponatremia and dopaminergic drugs reversed his condition. The triad of fever, severe rigidity and altered sensorium should prompt evaluation for malignant syndrome in Parkinson′s disease.

  14. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  15. Prismatic cases: Laron syndrome (primary growth hormone resistance) from patient to laboratory to patient.

    Science.gov (United States)

    Laron, Z

    1995-05-01

    Clinical investigations started in 1958 of a group of children with characteristics resembling GH deficiency, but who had extremely high levels of plasma GH, led to the description of the syndrome of primary GH resistance or insensitivity (Laron syndrome), the discovery of its molecular defect, and the clinical application of biosynthetic insulin-like growth factor-I. This syndrome is a unique model that enables study of the GH receptor, its signal transduction, and the comparison between the effects of GH and insulin-like growth factor-I.

  16. Refeeding syndrome

    Directory of Open Access Journals (Sweden)

    Tripathy Swagata

    2008-01-01

    Full Text Available We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  17. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  18. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  19. Microcephaly syndromes.

    Science.gov (United States)

    Abuelo, Dianne

    2007-09-01

    The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies. The genetic etiology can be caused by autosomal dominant, autosomal recessive, or X-linked genes or various types of chromosome anomalies. Some of the gene mutations have been identified recently. Syndromic microcephaly is associated with a large number of conditions. Some can be diagnosed, or at least suspected, based on their characteristic facial dysmorphism, and others can be searched for using databases of genetic disorders.

  20. Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-02-01

    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method for definite diagnosis, trials searching for both neuroimaging and specific serum biomarkers stil continue. The treatment of the syndrome is mainly of palliative nature. Information, education, reassurance and multifaceted rehabilitation programmes can be beneficial. There are promising trials reporting the effectiveness of cognitive behavioral therapy in the treatment of postconcussional syndrome. [Archives Medical Review Journal 2013; 22(1.000: 96-109

  1. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network...... of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third...

  2. [Serotonin syndrome].

    Science.gov (United States)

    Lheureux, P; Penaloza, A; De Cottenier, V; Ullmann, U; Gris, M

    2002-10-01

    The serotonin syndrome is a hyperserotoninergic state resulting from an excess of intrasynaptic 5-hydroxytryptamine, induced by multiple psychotropic agents, but also non psychiatric drugs. It is a potentially dangerous and sometimes lethal condition. The clinical manifestations usually include cognitive, neuromuscular and autonomic features and are mediated by the action of serotonin on various subtypes of receptors. The main differential diagnosis is the neuroleptic malignant syndrome. Treatment is mainly supportive. No pharmacological agent has been definitely demonstrated really effective. However, reports of cases treated with the 5-HT2 blockers, including cyproheptadine or chlorpromazine have suggested that these agents could have some efficacy. Serotonin syndrome is a toxic condition which requires heightened clinical awareness among physicians in order to prevent, recognize, and treat the condition promptly.

  3. [Autoinflammatory syndromes].

    Science.gov (United States)

    Gomes, José Melo; Gomes, Sónia Melo; Conde, Marta

    2010-01-01

    Autoinflammatory syndromes (AIS) are a heterogeneous group of congenital diseases characterized by the presence of recurrent episodes of fever and local or generalized inflammation, in the absence of infectious agents, detectable auto-antibodies or antigen-specific autoreactive T-cells. These diseases have been much better understood during the past 15 years, mainly due to the marked advances of the Human Genoma Project and its implications in the identification and characterization of genetic mutations. In this paper we make a revision of the classification of AIS and focus our attention specially on the cryopyrin-associated periodic syndromes (CAPS), in particular the CINCA syndrome that shares many clinical characteristics with juvenile idiopathic arthritis.

  4. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci

    2010-10-01

    Full Text Available Metabolic Syndrome is a combination of risk factors including common etiopathogenesis. These risk factors play different roles in occurence of atherosclerotic diseases, type 2 diabetes, and cancers. Although a compromise can not be achieved on differential diagnosis for MS, the existence of any three criterias enable to diagnose MS. These are abdominal obesity, dislipidemia (hypertrigliceridemia, hypercholesterolemia, and reduced high density lipoprotein hypertension, and elevated fasting blood glucose. According to the results of Metabolic Syndrome Research (METSAR, the overall prevalence of MS in Turkey is 34%; in females 40%, and in males it is 28%. As a result of “Western” diet, and increased frequency of obesity, MS is observed in children and in adolescents both in the world and in Turkey. Resulting in chronic diseases, it is thought that the syndrome can be prevented by healthy lifestyle behaviours. [TAF Prev Med Bull 2010; 9(5.000: 535-540

  5. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  6. [Synchronous Double Cancer Involving Gastric Cancer Resembling a Submucosal Tumor with Stenosis in the Pylorus and Ascending Colon Cancer - A Case Report].

    Science.gov (United States)

    Miyauchi, Tatsuomi; Miyaki, Akira; Ida, Arika; Kishibe, Saki; Yamaguchi, Kentaro; Shiozawa, Shunichi; Usui, Takebumi; Kuhara, Kotaro; Kono, Teppei; Naritaka, Yoshihiko

    2016-11-01

    An 82-year-old woman presented to our hospital with a complaint of frequent vomiting. She was admitted for intensive examination and treatment. Abdominal computed tomography revealed that her stomach was severely expanded, and the wall of the ascending colon was thickened throughout its circumference. Upper gastrointestinal endoscopy uncovered severe stenosis in the pylorus and an elevated lesion resembling a submucosal tumor on the posterior wall of the pylorus. Biopsies of the lesion revealed that it was of Group 1. On colonoscopy, type 2 cancer was found in the ascending colon throughout the circumference, and the biopsies revealed that it was of Group 5. Upper gastrointestinal endoscopy was repeated, and the same result was obtained. The possibility of malignancy could not be excluded; therefore, distal gastrectomy and right colectomy were performed. In terms of histopathology, both resected specimens displayed poorly differentiated adenocarcinoma; however, immunohistochemical studies revealed differences in staining at the two sites. The case was diagnosed as synchronous double cancer involving gastric cancer resembling a submucosal tumor with stenosis in the pylorus and ascending colon cancer. Gastric cancer resembling a submucosal tumor is usually difficult to diagnose on biopsy. If the endoscopic findings reveal an elevated lesion resembling a submucosal tumor with stenosis, then the possibility of carcinoma should be considered, and the most suitable treatment should be selected.

  7. Does My Baby Really Look Like Me? Using Tests for Resemblance between Parent and Child to Teach Topics in Categorical Data Analysis

    Science.gov (United States)

    Froelich, Amy G.; Nettleton, Dan

    2013-01-01

    In this article, we present a study to test whether neutral observers perceive a resemblance between a parent and a child. We demonstrate the general approach for two separate parent/ child pairs using survey data collected from introductory statistics students serving as neutral observers. We then present ideas for incorporating the study design…

  8. A Comparative Study of Film Title Translation in Chinese Mainland, Hong Kong and Taiwan--From the Perspective of Spiritual Resemblance

    Institute of Scientific and Technical Information of China (English)

    孔健梅

    2016-01-01

    Due to different social systems, economic development and cultural phenomenon in Chinese mainland, Hong Kong and Taiwan, one foreign film title may generate into various translation texts. Therefore,“one country, three-translation” phenomenon has come into being. This paper, combined with Spiritual Resemblance, attempts to analyze this phenomenon so as to better promote the film title translation.

  9. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  10. [PFAPA syndrome].

    Science.gov (United States)

    André, Suzete Costa Anjos; Vales, Fernando; Cardoso, Eduardo; Santos, Margarida

    2009-01-01

    PFAPA syndrome is characterized by periodic fever, pharyngitis, cervical adenitis and aphthous stomatitis. The bouts of fever can last for days or even weeks. Between crises, patients remain asymptomatic for variable periods. It appears before the age of five and has limited duration (4-8 years). Its aetiopathogeny is unknown. Corticoids are the treatment of choice. Tonsillectomy has been proposed as a solution but remains controversial. We present the case of a 4-year-old girl with PFAPA syndrome who underwent tonsillectomy in January, 2008, and we review the literature.

  11. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  12. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G;

    2009-01-01

    Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right......-to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. Udgivelsesdato...

  13. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  14. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  15. Gorlin Syndrome

    Directory of Open Access Journals (Sweden)

    Siroos Risbaf

    2013-01-01

    Full Text Available Gorlin syndrome is a dominant autosomal familial disorder. The manifestations begin at an early age and a combination of phenotypic abnormalities such special facial appearance, jaw cysts and skeletal anomalies are seen in this disease. A 22-year-old woman referred to Zahedan Dental School complaining of pain on the left cheek. During the examination, several cutaneous lesions in the neck, pits in palm and sole and multiple jaw cysts were observed. According to the clinical symptoms, lesion biopsy and reports of Gorlin syndrome radiography were presented.

  16. [Wilkie's syndrome].

    Science.gov (United States)

    Bognár, Gábor; Ledniczky, György; Palik, Eva; Zubek, László; Sugár, István; Ondrejka, Pál

    2008-10-01

    Loss of retroperitoneal fatty tissue as a result of a variety of debilitating conditions and noxa is believed to be the etiologic factor of superior mesenteric artery syndrome. A case of a 35 years old female patient with severe malnutrition and weight loss is presented, who developed superior mesenteric artery syndrome. Various theories of etiology, clinical course and treatment options of this uncommon disease are discussed. In our case, conservative management was inefficient, while surgical treatment aiming to bypass the obstruction by an anastomosis between the jejunum and the proximal duodenum (duodenojejunostomy) was successful. An interdisciplinary teamwork provides the most beneficial diagnostic and therapeutic result in this often underestimated disease.

  17. Morbihan syndrome.

    Science.gov (United States)

    Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia

    2013-04-01

    We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks).

  18. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  19. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  20. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Althou

  1. Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Hande Peynirci

    2013-09-01

    Full Text Available Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7

  2. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    /or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium...

  3. Dumping Syndrome

    Science.gov (United States)

    ... stomach move to your small intestine in an uncontrolled, abnormally fast manner. This is most often related to changes in your stomach associated with surgery. Dumping syndrome can occur after any stomach operation or removal of the esophagus (esophagectomy). Gastric bypass surgery for ...

  4. Brugada Syndrome

    Science.gov (United States)

    ... to look at your heart's electrical activity (electrophysiology study), you'll need to fast for eight to 12 hours before your test. Write down any symptoms you're experiencing, including any that may seem unrelated to Brugada syndrome. Write down key personal information, especially any family ...

  5. Bloom syndrome.

    Science.gov (United States)

    Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan

    2014-07-01

    Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia.

  6. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  7. Chylomicronemia syndrome

    Science.gov (United States)

    ... the blood. The disorder is passed down through families. Causes Chylomicronemia syndrome can occur due to a rare genetic disorder in which a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. LpL is normally found in fat and muscle. ...

  8. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  9. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  10. [Waardenburg's syndrome].

    Science.gov (United States)

    Gimñenez, F; Carbonell, R; Pérez, F; Lozano, I

    1994-01-01

    Reporting one case of this condition type-2 with heterochromia iridis and cochlear deafness. The AA. review the syndrome's components and it nomenclature as well. They discuss about the convenience of including this deviation in the chapter of "diseases of the embryonic neural crest". The specific place of the gene responsibly in the chromosome-2 and the possibilities of genetic counselling are considered.

  11. Waardenburg's syndrome.

    Science.gov (United States)

    Yesudian, D P; Jayaraman, M; Janaki, V R; Yesudian, P

    1995-01-01

    Three children in a family of five presented with heterochromia iridis, lateral displacement of inner canthi and varying degrees of sensorineural deafness. All the 3 showed iris atrophy. The father of the children had only heterochromia iridis. A diagnosis of Waardenburg's syndrome Type I was made in the children with the father probably representing a forme fruste of the condition.

  12. Caplan syndrome

    Science.gov (United States)

    ... CT scan of the chest Joint x-rays Pulmonary function tests Rheumatoid factor test and other blood tests Treatment There is no specific treatment for Caplan syndrome, other than treating any lung and joint disease. ... MD, MHS, Associate Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, ...

  13. Metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    Charles Shaeffer

    2004-01-01

    @@ The emergence of cardiac disease as the number one world-wide cause of death justifies efforts to identify individuals at higher risk for preventive therapy. The metabolic syndrome, originally described by Reaven, 1 has been associated with higher cardiovascular disease risk. 2 Type Ⅱ diabetes is also a frequent sequela. 3

  14. Sotos Syndrome

    Science.gov (United States)

    ... 663-4637) Sotos Syndrome Support Association P.O. Box 4626 Wheaton IL Wheaton, IL 60189 info@sotossyndrome.org http://www.sotossyndrome.org/ Tel: 888-246-7772 The Arc of the United States 1825 K Street, NW ...

  15. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  16. Reifenstein syndrome

    Science.gov (United States)

    Androgens are most important during early development in the womb. People with Reifenstein syndrome can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child. In the most severe cases, boys with outer female genitals ...

  17. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  18. [SAPHO syndrome].

    Science.gov (United States)

    Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J

    2014-10-01

    The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary.

  19. The phantom of the night: restless legs syndrome in amputees.

    Science.gov (United States)

    Giummarra, Melita J; Bradshaw, John L

    2010-06-01

    Chronic pain conditions often "mimic" the symptoms of restless legs syndrome (RLS) with worse pain in the evening and upon rest, associated with an urge to move and relief upon movement. We propose that too little has been made of these parallels, with pain conditions resembling RLS being dismissed as mimics. We found, in a large questionnaire study (n=283) on phantom limb perception, a pattern of phantom pain that resembled RLS: amputees with nocturnal phantom pain were more likely to report worse pain upon rest and/or lying down, with an urge to move the phantom and/or walk to relieve their pain, and to experience spontaneous limb movements akin to periodic leg movements of RLS. We present the hypothesis that a model of restless legs syndrome may provide new insights into the mechanisms underlying phantom pain, and lead to new mechanism-based phantom pain treatment. In particular, central changes associated with sensory and motor symptoms of RLS, neuropathy, and dopamine may also be involved in those predisposed to experience phantom pain that mimics the symptoms of RLS. Ultimately, restless legs syndrome may indeed be a pain syndrome, and warrants further investigation in chronic pain populations. .

  20. Abnormal fibrillin metabolism in bovine Marfan syndrome.

    Science.gov (United States)

    Potter, K. A.; Hoffman, Y.; Sakai, L. Y.; Byers, P. H.; Besser, T. E.; Milewicz, D. M.

    1993-01-01

    Bovine Marfan syndrome is a disorder that closely resembles human Marfan syndrome in its clinical signs and pathological lesions. The similarities between the human and bovine diseases suggest that similar metabolic defects could be responsible. Although indirect immunofluorescent assays for fibrillin in skin biopsies did not distinguish affected cattle from control animals, cultures of skin fibroblasts of affected animals were distinguished from normal, unrelated control animals and normal half-siblings on the basis of fibrillin staining. After 72 to 96 hours in culture, stained with anti-fibrillin monoclonal antibody 201, hyperconfluent fibroblast cultures of affected cattle had less immunoreactive fibrillin than control cultures, and the staining pattern was granular rather than fibrillar. Under similar culture conditions, normal bovine aortic smooth muscle cells produced large amounts of immunoreactive fibrillin, but smooth muscle cells from a single affected cow showed markedly less fibrillin staining. In pulse-chase metabolic labeling experiments with [35S]cysteine, dermal fibroblasts from 6 affected calves, incorporated far less fibrillin into the extracellular matrix than control cells. These findings are similar to those reported in human Marfan syndrome, and they suggest that the bovine Marfan syndrome, like the human disorder, is caused by a mutation in fibrillin, leading to defective microfibrillar synthesis. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:8456941

  1. Compartment syndromes

    Institute of Scientific and Technical Information of China (English)

    Aly Saber

    2014-01-01

    Body compartments bound by fascia and limited by bony backgrounds are found in the extremities, buttocks, abdomen and thoracic cavity; conditions that cause intracompartmental swelling and hypertension can lead to ischemia and limb loss.Although compartment syndromes are described in all body regions from head to toe, the etiology, diagnosis, treatment, and prevention are best characterized for three key body regions: the first is extremity, the second is abdominal, and the third is thoracic compartment syndromes.Thoracic compartment syndrome usually occurs as a result of pathological accumulation of air, fluid or blood in the mediastinum and has traditionally been described in trauma.As the intracranial contents are confined within a rigid bony cage, any increase in volume within thiscompartment as a result of brain oedema or an expanding traumatic intracranial haematoma, leads to a reciprocal decrease in the volume of cerebrospinal fluid and intracranial venous blood volume.Limb compartment syndromes may present either in acute or chronic clinical forms.Intra-abdominal pressure can be measured by direct or indirect methods.While the direct methods are quite accurate, theyare impractical and not feasible for routine practice.Indirect measurement is done through inferior vena cava, gastric, rectal and urinary bladder.Indirect measurement through urinary bladder is the simplest and is considered the method of choice for intra-abdominal pressure measurement.The management of patients with intra-abdominal hypertension is based on four important principles: the first is related to the specific procedures aiming at lowering intra-abdominal pressure and the consequences of intra-abdominal hypertension and abdominal compartment syndrome; the second is for general support and medical management of the critically ill patient; while the third is surgical decompression and the fourth is optimization after surgical decompression.

  2. Cockayne syndrome group B protein promotes mitochondrial DNA stability by supporting the DNA repair association with the mitochondrial membrane

    DEFF Research Database (Denmark)

    Aamann, Maria Diget; Sorensen, Martin M; Hvitby, Christina Poulsen;

    2010-01-01

    Cockayne syndrome (CS) is a human premature aging disorder associated with severe developmental deficiencies and neurodegeneration, and phenotypically it resembles some mitochondrial DNA (mtDNA) diseases. Most patients belong to complementation group B, and the CS group B (CSB) protein plays a role...

  3. Faecal microbiota composition and host-microbe cross-talk following gastroenteritis and in postinfectious irritable bowel syndrome

    NARCIS (Netherlands)

    Jalanka-Tuovinen, J.; Salojärvi, J.; Salonen, A.; Immonen, O.; Garsed, K.; Kelly, F.M.; Zaitoun, A.; Palva, A.; Spiller, R.C.; Vos, de W.M.

    2014-01-01

    Background - About 10% of patients with IBS report the start of the syndrome after infectious enteritis. The clinical features of postinfectious IBS (PI-IBS) resemble those of diarrhoea-predominant IBS (IBS-D). While altered faecal microbiota has been identified in other IBS subtypes, composition of

  4. Down Syndrome: Education

    Science.gov (United States)

    ... leading human rights organization for all individuals with Down syndrome. National Down Syndrome Society 8 E 41st Street, 8th Floor New ... New York 10017 800-221-4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & ...

  5. Down Syndrome: Eye Problems

    Science.gov (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... Where can I find more information regarding Down Syndrome? National Down Syndrome Society VISIT SITE » Downs Syndrome Association VISIT ...

  6. Sexuality and Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Shop NDSS Home » Resources » Wellness » Sexuality » Sexuality & Down Syndrome Sexuality & Down Syndrome Human sexuality encompasses an individual's self-esteem, ...

  7. CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.

    Science.gov (United States)

    Slavotinek, Anne; Kaylor, Julie; Pierce, Heather; Cahr, Michelle; DeWard, Stephanie J; Schneidman-Duhovny, Dina; Alsadah, Adnan; Salem, Fadi; Schmajuk, Gabriela; Mehta, Lakshmi

    2015-01-01

    We report five fetuses and a child from three families who shared a phenotype comprising cerebral ventriculomegaly and echogenic kidneys with histopathological findings of congenital nephrosis. The presenting features were greatly elevated maternal serum alpha-fetoprotein (MSAFP) or amniotic fluid alpha-fetoprotein (AFAFP) levels or abnormalities visualized on ultrasound scan during the second trimester of pregnancy. Exome sequencing revealed deleterious sequence variants in Crumbs, Drosophila, Homolog of, 2 (CRB2) consistent with autosomal-recessive inheritance. Two fetuses with cerebral ventriculomegaly and renal microcysts were compound heterozygotes for p.Asn800Lys and p.Trp759Ter, one fetus with renal microcysts was a compound heterozygote for p.Glu643Ala and p.Asn800Lys, and one child with cerebral ventriculomegaly, periventricular heterotopias, echogenic kidneys, and renal failure was homozygous for p.Arg633Trp in CRB2. Examination of the kidneys in one fetus showed tubular cysts at the corticomedullary junction and diffuse effacement of the epithelial foot processes and microvillous transformation of the renal podocytes, findings that were similar to those reported in congenital nephrotic syndrome, Finnish type, that is caused by mutations in nephrin (NPHS1). Loss of function for crb2b and nphs1 in Danio rerio were previously shown to result in loss of the slit diaphragms of the podocytes, leading to the hypothesis that nephrosis develops from an inability to develop a functional glomerular barrier. We conclude that the phenotype associated with CRB2 mutations is pleiotropic and that the condition is an important consideration in the evaluation of high MSAFP/AFAFP where a renal cause is suspected.

  8. Asperger syndrome: tests of right hemisphere functioning and interhemispheric communication.

    Science.gov (United States)

    Gunter, Helen L; Ghaziuddin, Mohammad; Ellis, Hadyn D

    2002-08-01

    The primary aim of this investigation was to assess to what extent Rourke's (1989, 1995) nonverbal learning disabilities syndrome (NLD) model resembles the pattern of assets and deficits seen in people with Asperger syndrome (AS). NLD can be characterized by a cluster of deficits primarily affecting nonverbal aspects of functioning, in the presence of proficiency in single word reading and a superior verbal memory. The neurological underpinnings of this syndrome may be dysfunction of white matter affecting right hemisphere functioning and interhemispheric communication. To explore this hypothesis, eight participants with AS (ages 10 to 41 years) were assessed in the following areas: the pragmatics of language and communication, verbal and visual memory, visual-spatial abilities, and bimanual motor skills. Results confirmed the close similarity in the neuropsychologic profiles of NLD and AS.

  9. Atypical measles syndrome: unusual hepatic, pulmonary, and immunologic aspects.

    Science.gov (United States)

    Frey, H M; Krugman, S

    1981-01-01

    The atypical measles syndrome is a relatively new disease that was first recognized 15 years ago. Initially, it occurred in children who were exposed to wild measles virus several years after they were immunized with killed measles vaccine. It was characterized by a two- to three-day prodrome of high fever, cough, headache, and myalgia followed by a rash that resembled Rocky Mountain spotted fever, scarlet fever, or varicella and associated with roentgenographic evidence of pneumonia with or without pleural effusion. This report highlights three unusual manifestations of this syndrome: 1) transient hepatitis, 2) persistence of pulmonary lesions for several years, and 3) occurrence of excessively high measles hemagglutination-inhibition antibody titers. Today, this syndrome occurs predominantly in adolescents and young adults.

  10. Otodental syndrome

    Directory of Open Access Journals (Sweden)

    Bloch-Zupan Agnès

    2006-03-01

    Full Text Available Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves. The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.

  11. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and...... necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre......-antibiotic era but has diminished with the advent of antibiotics. This review showed a mortality rate of only 2% of which none of the cases involved fusobacteria. Duration of treatment varied; a 4-6-week course of carbapenem or piperacillin/tazobactam in combination with metronidazole was optimum. Other...

  12. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  13. Antiphospholipid syndrome.

    Science.gov (United States)

    Cervera, Ricard

    2017-03-01

    The antiphospholipid syndrome (APS) is defined by the development of venous and/or arterial thromboses, often multiple, and pregnancy morbidity (mainly, recurrent fetal losses), in the presence of antiphospholipid antibodies (aPL). Some estimates indicate that the incidence of the APS is around 5 new cases per 100,000 persons per year and the prevalence around 40-50 cases per 100,000 persons. The aPL are positive in approximately 13% of patients with stroke, 11% with myocardial infarction, 9.5% of patients with deep vein thrombosis and 6% of patients with pregnancy morbidity. Currently, there is consensus in treating APS patients with thrombosis with long-term oral anticoagulation and to prevent obstetric manifestations with the use of aspirin and heparin. This review summarizes the main knowledge on the clinical and therapeutic aspects of this syndrome. © 2017 Elsevier Ltd. All rights reserved.

  14. Parinaud's syndrome.

    Science.gov (United States)

    Moffie, D; Ongerboer de Visser, B W; Stefanko, S Z

    1983-02-01

    Five cases of a tumour in the quadrigeminal area have been described, 4 of which could be verified by autopsy. In 2 cases with a metastasis in the tegmentum of the mesencephalon, a Parinaud syndrome was present. In 2 other cases, however, with extensive destruction of the quadrigeminal plate and of the posterior commissure this syndrome was not present. In the 5th case, with a big vascular tumour of the pineal area, disturbances of eye movements and pupils were also lacking. From these observations we may conclude that (1) destruction of the quadrigeminal plate has no influence upon vertical eye movements. (2) destruction of the posterior commissure, in combination with the quadrigeminal plate, is not always followed by disturbances of vertical eye movements. In man it is still not clear which structures are responsible for the performance of vertical eye movements.

  15. Apert syndrome

    Directory of Open Access Journals (Sweden)

    Premalatha

    2010-01-01

    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  16. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  17. Improving the understanding of Takotsubo syndrome: consequences of diagnosis and treatment.

    Science.gov (United States)

    Tanabe, Yasuhiro; Akashi, Yoshihiro J

    2016-06-01

    Takotsubo syndrome was first described in Japan in 1990. Although it has gained worldwide recognition in the last 25 years, the pathophysiology of Takotsubo syndrome remains controversial. This syndrome is often reported in elderly postmenopausal women suffering from sudden, unexpected emotional and physical stress. Its clinical presentation resembles that of acute myocardial infarction. The prognosis of Takotsubo syndrome was initially considered favorable compared with that of myocardial infarction; however, subsequent studies have demonstrated that the mortality was higher than previously reported. Prompt diagnosis followed by appropriate management for acute complications such as heart failure, arrhythmia, intraventricular thrombus, and left ventricular outflow tract obstruction is required. We discuss the current knowledge on Takotsubo syndrome to facilitate optimal diagnosis and treatment.

  18. Diffuse Hepatic and Spleen Uptake of Tc-99m MDP on Bone Scintigraphy Resembling Liver-Spleen Scintigraphy in a Patient of Plasma Cell Tumor.

    Science.gov (United States)

    Ravanbod, Mohammad Reza; Nemati, Reza; Javadi, Hamid; Nabipour, Iraj; Assadi, Majid

    2014-01-01

    The present case demonstrates a diffuse intense hepatic and, to a lesser degree, spleen, Tc-99m MDP uptake on a routine bone scintigraphy resembling liver-spleen imaging. A 49-year-old female with a history of anaplastic plasma cell tumor and suffering from bone pain was referred for bone scintigraphy to evaluate possible bone metastases. The bone scintigraphy showed diffuse hepatic and spleen uptake of Tc-99m MDP resembling liver-spleen imaging. Furthermore, bone uptake of Tc-99m MDP was significantly diminished and there were no abnormal foci throughout the skeleton. The bone scintigraphy of the present case of an anaplastic plasma cell tumor suggests the possible presence of amyloidosis.

  19. Fluency Disorders in Genetic Syndromes

    Science.gov (United States)

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  20. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  1. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta

    2007-01-01

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review.

  2. Postconcussional Syndrome

    OpenAIRE

    Necla Keskin; Lut Tamam

    2013-01-01

    Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral) symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method f...

  3. Fraser syndrome.

    Directory of Open Access Journals (Sweden)

    Chattopadhyay A

    1993-10-01

    Full Text Available Fraser Syndrome is a rare disorder with only a few cases having been described in Indian literature. We report here a case of a patient aged 16 yr present with primary amenorrhea which is a very unusual mode of presentation. Multiple associated anomalies were present including those of eyelids, eyebrow, face, fingers and genitalia. Chromosome analysis revealed a normal female karyotype. Pituitary gonadotropins were within normal range.

  4. [Fibromyalgia syndrome].

    Science.gov (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  5. Gerstmann's syndrome.

    OpenAIRE

    Sukumar, S.; Ferguson, G C

    1996-01-01

    Although Gerstmann's syndrome has been well documented since it was characterised in the latter half of last century, there has not been much literature on it in the last few years. We present a classical case in a patient who was admitted into hospital for an unrelated problem. We conclude that clinical examination still has a valuable role in neurology, despite the availability of excellent imaging techniques.

  6. Antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.

    2010-01-01

    Full Text Available Antiphospholipid syndrome (APS is an autoimmune disease with recurrent thromboses and pregnancy complications (90% are female patients that can be primary and secondary (with concomitant autoimmune disease. Antiphospholipid antibodies are prothrombotic but also act directly with brain tissue. One clinical and one laboratory criterion is necessary for the diagnosis of APS. Positive serological tests have to be confirmed after at least 12 weeks. Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome. About 50% of strokes below 50 years of age are caused by APS. The first line of therapy in stroke is anticoagulation: intravenous heparin or low-weight heparins. In chronic treatment, oral anticoagulation and antiplatelet therapy are used, warfarin and aspirin, mostly for life. In resistant cases, corticosteroids, intravenous immunoglobulins and plasmapheresis are necessary. Prognosis is good in most patients but some are treatment-resistant with recurrent thrombotic events and eventually death.

  7. Kartagener syndrome

    Directory of Open Access Journals (Sweden)

    Nedaa Skeik

    2011-01-01

    Full Text Available Nedaa Skeik1–3, Fadi I Jabr41Mayo Clinic, Rochester, MN, USA; 2Dartmouth Medical School, Hannover, NH, USA; 3New York Medical College, New York, NY, USA; 4Horizon Medical Center, Hospital Medicine, Dickson, TN, USAAbstract: Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. Diagnosis can be made by tests to prove impaired cilia function, biopsy, and genetic studies. Treatment is supportive. In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed. We present a case of a 66-year-old woman with chronic recurrent upper respiratory infections, pseudomonal pneumonia, and chronic bronchiectasis who presented with acute respiratory failure. She was diagnosed with Kartagener syndrome based on her clinical presentation and genetic studies. She expired on ventilator with refractory respiratory and multiorgan failure.Keywords: chronic obstructive pulmonary disease, bronchiectasis, immotile cilia syndrome, situs inversus

  8. Crush syndrome

    Directory of Open Access Journals (Sweden)

    Emily Lovallo

    2012-09-01

    Full Text Available The first detailed cases of crush syndrome were described in 1941 in London after victims trapped beneath bombed buildings presented with swollen limbs, hypovolemic shock, dark urine, renal failure, and ultimately perished. The majority of the data and studies on this topic still draw from large databases of earthquake victims. However, in Africa, a continent with little seismic activity, the majority of crush syndrome cases are instead victims of severe beatings rather than earthquake casualties, and clinical suspicion by emergency personnel must be high in this patient group presenting with oliguria or pigmenturia. Damaged skeletal muscle fibres and cell membranes lead to an inflammatory cascade resulting in fluid sequestration in the injured extremity, hypotension, hyperkalemia and hypocalcemia and their complications, and renal injury from multiple sources. Elevations in the serum creatinine, creatine kinase (CK, and potassium levels are frequent findings in these patients, and can help guide critical steps in management. Fluid resuscitation should begin prior to extrication of trapped victims or as early as possible, as this basic intervention has been shown to in large part prevent progression of renal injury to requiring haemodialysis. Alkalinization of the urine and use of mannitol for forced diuresis are recommended therapies under specific circumstances and are supported by studies done in animal models, but have not been shown to change clinical outcomes in human crush victims. In the past 70 years the crush syndrome and its management have been studied more thoroughly, however clinical practice guidelines continue to evolve.

  9. Critique of Wittgenstein's Theory of "Family Resemblance"%对维特根斯坦"家族相似"理论的批判

    Institute of Scientific and Technical Information of China (English)

    董志强

    2003-01-01

    @@ 维特根斯坦在中提出了著名的"家族相似"(family resemblance)的"语言游戏"观,以此来否定和消解传统哲学中的"本质主义".维氏的这一理论影响极为广泛,并被奉为是对形而上学教条的重大理论突破.

  10. Asperger Syndrome (For Parents)

    Science.gov (United States)

    ... Teaching Kids to Be Smart About Social Media Asperger Syndrome KidsHealth > For Parents > Asperger Syndrome Print A ... the medical community still use the term. About Asperger Syndrome The disorder is named after Hans Asperger, ...

  11. Genetic obesity syndromes.

    Science.gov (United States)

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome.

  12. Anesthesia & Down Syndrome

    Science.gov (United States)

    ... Health Care » Associated Conditions » Anesthesia & Down Syndrome Anesthesia & Down Syndrome Complications of anesthesia (sedation during surgery) occur in ... histories are complicated. Why Would an Individual With Down Syndrome Need A nesthesia? 40-60% of infants born ...

  13. Dental Issues & Down Syndrome

    Science.gov (United States)

    ... Associated Conditions » Dental Issues & Down Syndrome Dental Issues & Down Syndrome Dental care is important for everybody, but people ... is Different About the Teeth of People With Down Syndrome? Delayed Eruption The teeth of people with Down ...

  14. Heart and Down Syndrome

    Science.gov (United States)

    ... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

  15. ADHD & Down Syndrome

    Science.gov (United States)

    ... Health Care » Associated Conditions » ADHD & Down Syndrome ADHD & Down Syndrome Attention deficit hyperactivity disorder, or ADHD, is a ... age. How Common Is ADD in Children With Down Syndrome? The frequency of ADHD in children with Down ...

  16. What Causes Down Syndrome?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry​ . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  17. Neonatal respiratory distress syndrome

    Science.gov (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs between days ...

  18. Familial resemblance on the Thurstone Activity Scale, systolic blood pressure, and total cholesterol among first degree relatives of subjects with and without coronary heart disease.

    Science.gov (United States)

    Carmelli, D; Rosenman, R

    1985-01-01

    An investigation of the pattern of familial resemblance of three different risk factors assessed in families of coronary heart disease (CHD) patients and controls is presented. The fathers of these families participated in the Western Collaborative Group Study that first established the type A/B behavior pattern as an independent risk factor for CHD. A recently developed methodology, the Structured Exploratory Data Analysis (SEDA), was implemented to examine parental interaction, parent-offspring closeness, asymmetries in transmission, and other differences in the pattern of familial similarities among family members of case and control subjects. The analysis performed revealed pronounced parent-child similarity for total serum cholesterol values in both case and control families; spouse closeness and parent-child resemblance for systolic blood pressure measurements only in control families; and sex asymmetries in the parent-child closeness on pace of activity, which also differed between case and control families. The results of this investigation underscore the value of examining the joint pattern of familial resemblance of a number of risk factors as a means for differentiating between cultural and biological factors affecting familial aggregation of CHD.

  19. Forensic facial approximation assessment: can application of different average facial tissue depth data facilitate recognition and establish acceptable level of resemblance?

    Science.gov (United States)

    Herrera, Lara Maria; Strapasson, Raíssa Ananda Paim; da Silva, Jorge Vicente Lopes; Melani, Rodolfo Francisco Haltenhoff

    2016-09-01

    Facial soft tissue thicknesses (FSTT) are important guidelines for modeling faces from skull. Amid so many FSTT data, Forensic artists have to make a subjective choice of a dataset that best meets their needs. This study investigated the performance of four FSTT datasets in the recognition and resemblance of Brazilian living individuals and the performance of assessors in recognizing people, according to sex and knowledge on Human Anatomy and Forensic Dentistry. Sixteen manual facial approximations (FAs) were constructed using three-dimensional (3D) prototypes of skulls (targets). The American method was chosen for the construction of the faces. One hundred and twenty participants evaluated all FAs by means of recognition and resemblance tests. This study showed higher proportions of recognition by FAs conducted with FSTT data from cadavers compared with those conducted with medical imaging data. Targets were also considered more similar to FAs conducted with FSTT data from cadavers. Nose and face shape, respectively, were considered the most similar regions to targets. The sex of assessors (male and female) and the knowledge on Human Anatomy and Forensic Dentistry did not play a determinant role to reach greater recognition rates. It was possible to conclude that FSTT data obtained from imaging may not facilitate recognition and establish acceptable level of resemblance. Grouping FSTT data by regions of the face, as proposed in this paper, may contribute to more accurate FAs.

  20. [Proteus syndrome. Expansion of the phenotype. Apropos of 3 pediatric cases].

    Science.gov (United States)

    Hulsmans, R F; Schrander-Stumpel, C R; Koopman, R J; Hoorntje, T M; Starink, T M

    1992-01-01

    In 1979 Cohen et Hayden and in 1983 Wiedemann et al. delineated a syndrome consisting of partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Hitherto the literature pertaining to this syndrome consists of somewhat more than 100 cases of which some, that have been described previously or subsequently under other headings, were rediagnosed as being Proteus syndromes. Of these, more than half show vascular anomalies closely resembling those observed in the Klippel-Trenaunay syndrome, but in the Proteus syndrome appear to be more haphazardly distributed over the integument. We report 3 pediatric patients with the Proteus syndrome, all showing cutaneous angiodysplasias. These patients were initially diagnosed as suffering from "severe or atypical Klippel-Trenaunay syndrome". In one of these, cardiac tumors were observed soon after birth which subsequently showed spontaneous involution and were therefore considered to be rhabdomyomas. In the Proteus syndrome cardiac pathology is rare, and cardiac tumors have not been described previously. Moreover, we observed umbilical hernia in two of our patients, a feature which has hitherto not been reported in patients with the Proteus syndrome. In all our patients a broad thoracic cage resembling a "body-builders chest", asymmetrical and disproportional macrodactyly and broad, flat feet were conspicuous. These broad, flat feet with macrodactyly and large spaces between the first and second digits were designed by the parents of one of our patient as "chimpanzee's feet". Macrodactyly, "chimp's" feet and a broad thoracic cage are considered by us to be clinical hallmarks of the Proteus syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

  1. Inherited ichthyosis: Syndromic forms.

    Science.gov (United States)

    Yoneda, Kozo

    2016-03-01

    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.

  2. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... Pharyngitis, Adenitis Syndrome (Juvenile) Polymyalgia Rheumatica Psoriatic Arthritis Raynaud's Phenomenon Reactive Arthritis Rheumatoid Arthritis Scleroderma Sjogren's Syndrome Spinal Stenosis Spondyloarthritis Systemic Lupus Erythematosus (Juvenile) Takayasu's ...

  3. From FRA to RFN, or How the Family Resemblance Approach Can Be Transformed for Science Curriculum Analysis on Nature of Science

    Science.gov (United States)

    Kaya, Ebru; Erduran, Sibel

    2016-12-01

    The inclusion of Nature of Science (NOS) in the science curriculum has been advocated around the world for several decades. One way of defining NOS is related to the family resemblance approach (FRA). The family resemblance idea was originally described by Wittgenstein. Subsequently, philosophers and educators have applied Wittgenstein's idea to problems of their own disciplines. For example, Irzik and Nola adapted Wittgenstein's generic definition of the family resemblance idea to NOS, while Erduran and Dagher reconceptualized Irzik and Nola's FRA-to-NOS by synthesizing educational applications by drawing on perspectives from science education research. In this article, we use the terminology of "Reconceptualized FRA-to-NOS (RFN)" to refer to Erduran and Dagher's FRA version which offers an educational account inclusive of knowledge about pedagogical, instructional, curricular and assessment issues in science education. Our motivation for making this distinction is rooted in the need to clarify the various accounts of the family resemblance idea.The key components of the RFN include the aims and values of science, methods and methodological rules, scientific practices, scientific knowledge as well as the social-institutional dimensions of science including the social ethos, certification, and power relations. We investigate the potential of RFN in facilitating curriculum analysis and in determining the gaps related to NOS in the curriculum. We analyze two Turkish science curricula published 7 years apart and illustrate how RFN can contribute not only to the analysis of science curriculum itself but also to trends in science curriculum development. Furthermore, we present an analysis of documents from USA and Ireland and contrast them to the Turkish curricula thereby illustrating some trends in the coverage of RFN categories. The results indicate that while both Turkish curricula contain statements that identify science as a cognitive-epistemic system, they

  4. The relationship between Asperger's syndrome and schizophrenia in adolescence.

    Science.gov (United States)

    Waris, Petra; Lindberg, Nina; Kettunen, Kirsi; Tani, Pekka

    2013-04-01

    Asperger's syndrome (AS), a pervasive developmental disorder (PDD), has nowadays been widely advocated in media. Therefore, psychiatrists treating adolescents frequently meet patients as well as their families reporting of symptoms resembling those of Asperger's syndrome. It is known that symptoms of Asperger's syndrome have some overlap with those of schizophrenia, but less is known about comorbidity between these two syndromes. We describe a sample of 18 adolescents with early onset schizophrenia. Diagnosis of schizophrenia was based on assessment with Kiddie Schedule for Affective Disorders and Schizophrenia. The diagnostic interview for Social and Communication Disorders version 11 was used to assess autism spectrum disorders. Ten adolescents fulfilled symptom criteria of Asperger's syndrome after the onset of schizophrenia, while only two persons had Asperger's syndrome before the onset of schizophrenia, a prerequisite for diagnosis. 44% of the adolescents fulfilled the diagnosis of some PDD in childhood. Most of them were, however, unrecognized before the onset of schizophrenia. On the other hand, all 18 patients had one or more symptoms of PDDS in adolescence. Adolescents with schizophrenia have often symptoms consistent with AS, although only few of them have fulfilled the diagnostic criteria in their childhood, a prerequisite for the diagnosis of AS. There is a risk for misdiagnosis of adolescents with autistic symptoms if detailed longitudinal anamnesis is not obtained.

  5. Raynaud's syndrome and carpal tunnel syndrome.

    OpenAIRE

    Waller, D G; Dathan, J R

    1985-01-01

    We report three cases of Raynaud's syndrome with digital ischaemic ulceration, in association with carpal tunnel syndrome. In all cases, the aetiology of the Raynaud's syndrome was probably unrelated to the nerve compression. However, symptoms were worse on the side of the median nerve lesion in two patients and worse on the side with the most severe nerve dysfunction in the third; symptoms were relieved by carpal tunnel decompression in two patients. We suggest that carpal tunnel syndrome ma...

  6. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Jan Lata

    2012-01-01

    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension.This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys,where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration,which ultimately results in uraemia.The syndrome occurs almost exclusively in patients with ascites.Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output.Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure,but refractory ascites,and its impact on prognosis is less negative.Liver transplantation is the most appropriate therapeutic method,nevertheless,only a few patients can receive it.The most suitable "bridge treatments" or treatment for patients ineligible for a liver transplant include terlipressin plus albumin.Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response.Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term.Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS.

  7. Morvan Syndrome

    Science.gov (United States)

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  8. Eagle Syndrome

    Directory of Open Access Journals (Sweden)

    Beytholahi JM

    1998-09-01

    Full Text Available Eagle's syndrome is characterized by an elongated styloid process and (or calcification of"nstylohyoid ligament besides clinical symptoms. The symptoms are those related to pain when"nswallowing or rotating the neck, headacke, earache, dizziness, intermittent glossitis, sensation of"nforeign body in pharynx and transient syncope. The case which is presented can be considered a very"nrare form of the disease in which complete calcification of the ligament and it's thickening has"noccured. Also there is little relationship between the severity of calcification and severity of symptoms."nA careful and thorough evaluation of each panoramic radiography is emphasized.

  9. HELLP syndrome

    Directory of Open Access Journals (Sweden)

    Dilek Acar

    2014-08-01

    Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760

  10. Jacobsen syndrome.

    Science.gov (United States)

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-03-07

    Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe

  11. Chilaiditi syndrome.

    Science.gov (United States)

    Walsh, S D; Cruikshank, J G

    1977-02-01

    The features of the Chilaiditi Syndrome are described, together with the historial background, and a brief review of the literature on the condition is given. The prevalence in our geriatric population was found to be 1% and the 13 cases seen over 22 months are reported briefly. The prevalence increases with age and may be related to the consumption of drugs by the elderly; although in the majority it is asymptomatic, it may, particularly when associated with gastrointestinal symptoms, lead to unnecessary laparotomy. In the geriatric patient, interposition of the bowel should be considered in the differential diagnosis of air under the right hemidiaphragm.

  12. Myofascial syndrome

    Directory of Open Access Journals (Sweden)

    Giancarlo Carli

    2008-12-01

    Full Text Available Myofascial pain syndrome is common cause one of musculoskeletal pain and it is characterized by trigger points (TP, limited range of motion in joints and local twitch response (LTR during mechanical stimulation of the TP. Trigger point is a hyperirritable spot in skeletal muscle that is associated with a hypersensitive palpable nodule in a taut band. The spot is tender when pressed and can give rise to characteristic referred pain, motor dysfunction and autonomic phenomena. Palpation is reliable diagnostic criterion for locating TP in patients. Treatment is based on anesthetise TP, stretch and spray, local pression and physical activity.

  13. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  14. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  15. Refeeding syndrome.

    Science.gov (United States)

    Fuentebella, Judy; Kerner, John A

    2009-10-01

    Refeeding syndrome (RFS) is the result of aggressive enteral or parenteral feeding in a malnourished patient, with hypophosphatemia being the hallmark of this phenomenon. Other metabolic abnormalities, such as hypokalemia and hypomagnesemia, may also occur, along with sodium and fluid retention. The metabolic changes that occur in RFS can be severe enough to cause cardiorespiratory failure and death. This article reviews the pathophysiology, the clinical manifestations, and the management of RFS. The key to prevention is identifying patients at risk and being aware of the potential complications involved in rapidly reintroducing feeds to a malnourished patient.

  16. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  17. Lowe syndrome

    Directory of Open Access Journals (Sweden)

    Loi Mario

    2006-05-01

    Full Text Available Abstract Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5 bisphosphate 5 phosphatase, PtdIns (4,5P2, in the trans-Golgi network is responsible for the disease. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease. The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water. Life span rarely exceeds 40 years.

  18. Cardiorenal syndrome

    Directory of Open Access Journals (Sweden)

    Sabry Omar

    2013-01-01

    Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease.  Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.

  19. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  20. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  1. Sheehan's syndrome.

    Science.gov (United States)

    Kilicli, Fatih; Dokmetas, Hatice Sebila; Acibucu, Fettah

    2013-04-01

    Sheehan's syndrome (SS) is characterized by various degrees of hypopituitarism, and develops as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. Increased pituitary volume, small sella size, disseminated intravascular coagulation and autoimmunity are the proposed factors in the pathogenesis of SS. Hormonal insufficiencies, ranging from single pituitary hormone insufficiency to total hypopituitarism, are observed in patients. The first most important issue in the diagnosis is being aware of the syndrome. Lack of lactation and failure of menstrual resumption after delivery that complicated with severe hemorrhage are the most important clues in diagnosing SS. The most frequent endocrine disorders are the deficiencies of growth hormone and prolactin. In patients with typical obstetric history, prolactin response to TRH seems to be the most sensitive screening test in diagnosing SS. Other than typical pituitary deficiency, symptoms such as anemia, pancytopenia, osteoporosis, impairment in cognitive functions and impairment in the quality of life are also present in these patients. Treatment of SS is based on the appropriate replacement of deficient hormones. Growth hormone replacement has been found to have positive effects; however, risk to benefit ratio, side effects and cost of the treatment should be taken into account.

  2. Klinefelter syndrome.

    Science.gov (United States)

    Smyth, C M; Bremner, W J

    1998-06-22

    Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility, whereas others, because of the wide variability in clinical expression, lack many of these features. Treatment consists of testosterone replacement therapy to correct the androgen deficiency and to provide patients with appropriate virilization. This therapy also has positive effects on mood and self-esteem and has been shown to protect against osteoporosis, although it will not reverse infertility. Although the diagnosis of Klinefelter syndrome is now made definitively using chromosomal karyotyping, revealing in most instances a 47,XXY genotype, the diagnosis also can be made using a careful history and results of a physical examination, with the hallmark being small, firm testes. As it affects 1 in 500 male patients and presents with a variety of clinical features, primary care physicians should be familiar with this condition.

  3. Down Syndrome (For Parents)

    Science.gov (United States)

    ... Habits for TV, Video Games, and the Internet Down Syndrome KidsHealth > For Parents > Down Syndrome Print A A ... Help en español El síndrome de Down About Down Syndrome Down syndrome (DS), also called Trisomy 21, is ...

  4. Facts about Down Syndrome

    Science.gov (United States)

    ... label> Information For… Media Policy Makers Facts about Down Syndrome Language: English (US) Español (Spanish) Recommend on ... children with Down syndrome. View charts » What is Down Syndrome? Down syndrome is a condition in which a ...

  5. Burnout Syndrome of Teachers

    OpenAIRE

    Semrádová, Michaela

    2013-01-01

    The bachelor's thesis covers burnout syndrome of teachers. Defines burnout syndrome, describes its causes and symptoms. Describes teaching as helping profession and focousing on stressful situations at school. In the last chapter described different prevention strategies burnout syndrome. Key words: burnout syndrome, teaching, teacher, helping professions, beginning teacher, stress

  6. Magnetic resonance imaging of wrist and finger joints in healthy subjects occasionally shows changes resembling erosions and synovitis as seen in rheumatoid arthritis

    DEFF Research Database (Denmark)

    Ejbjerg, Bo; Narvestad, Eva; Rostrup, Egill

    2004-01-01

    OBJECTIVE: To explore the presence of changes resembling rheumatoid arthritis erosions and synovitis in metacarpophalangeal (MCP) and wrist joints of healthy individuals on magnetic resonance imaging (MRI) and to compare the MRI findings with conventional radiographic, clinical, and biochemical.......5%), while only minimal early synovial enhancement was detected by dynamic MRI. Three subjects had elevated serum levels of C-reactive protein, and these subjects displayed 44.5% of the synovitis-like changes and 41.7% of the erosion-like changes. Bone marrow edema-like changes were not found in any joints...

  7. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno

    2008-05-01

    Full Text Available Abstract LEOPARD syndrome (LS, OMIM 151100 is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS, chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should

  8. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy.

  9. Flushing syndrome due to mahimahi (scombroid fish) poisoning.

    Science.gov (United States)

    Kim, R

    1979-08-01

    Scombroid fish poisoning, one of the most common adverse reactions to fish, is also probably one of the most common causes of a flushing syndrome. The reaction usually involves fishes of the Scombridae family but, in Hawaii, the reaction is most often due to mahimahi (Coryphaena hippurus). Onset of the reaction is usually abrupt and commonly associated with a prominent flush resembling a sunburn. Headache, tachye to a toxin with histamine-like properties, which is formed because improper refrigeration enables endogenous bacteria to decarboxylate histidine normally present in dark-meat fishes. Symptoms are usually promptly relieved by parenteral antihistamine therapy.

  10. Optic nerve histopathology in a case of Wolfram Syndrome

    DEFF Research Database (Denmark)

    Ross-Cisneros, Fred N; Pan, Billy X; Silva, Ruwan A

    2013-01-01

    Mitochondrial dysfunction in Wolfram Syndrome (WS) is controversial and optic neuropathy, a cardinal clinical manifestation, is poorly characterized. We here describe the histopathological features in postmortem retinas and optic nerves (ONs) from one patient with WS, testing the hypothesis...... that mitochondrial dysfunction underlies the pathology. Eyes and retrobulbar ONs were obtained at autopsy from a WS patient, and compared with those of a Leber hereditary optic neuropathy (LHON) patient and one healthy control. Retinas were stained with hematoxylin & eosin for general morphology and ONs were...... of axonal degeneration, involving primarily the papillomacular bundle, closely resembled LHON and other mitochondrial optic neuropathies, supporting that mitochondrial dysfunction underlies its pathogenesis....

  11. Mild Form of Treacher Collins Syndrome Imitating Juvenile Otosclerosis

    Directory of Open Access Journals (Sweden)

    Karol Zeleník

    2012-01-01

    Full Text Available Treacher Collins syndrome (TCS is an inherited developmental disorder. More than 40% of individuals with TCS have conductive hearing loss attributed to external and middle ear anomalies. Mild cases of TCS often pass undiagnosed at birth or early childhood. The disease may be manifested as conductive hearing loss in teenagers and may resemble juvenile otosclerosis. Patients could suffer from slight facial variabilities including retrognathia (as in our case and others, which point out to a possible middle ear anomaly. Surgical corrections of middle ear anomalies including TCS generally lead to poorer outcomes comparing with juvenile otosclerosis, which should be discussed with parents during preoperative counselling.

  12. Imaging for Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome.

    Science.gov (United States)

    Schaub, Steven; Sirkis, Hartley M; Kay, Jonathan

    2016-11-01

    Multifocal osteomyelitis and synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome constitute a spectrum of disease that includes inflammatory bone lesions and dermatologic findings. Radiographic features resemble those of the spondyloarthropathies with anterior chest wall involvement. Early radiographic findings are osteodestructive with lytic lesions. Bone scintigraphy of the sternoclavicular region classically yields a 'bull's head' pattern of radionuclide uptake. Magnetic resonance imaging (MRI) can demonstrate corner lesions of vertebral bodies. Ultrasound often reveals peripheral enthesitis. Late radiographic features are usually osteoproliferative. PET/CT can identify chronic lesions. Differential diagnostic considerations include osteomyelitis and malignancy, which often prompt bone biopsy.

  13. Mild form of treacher collins syndrome imitating juvenile otosclerosis.

    Science.gov (United States)

    Zeleník, Karol; Komínek, Pavel

    2012-01-01

    Treacher Collins syndrome (TCS) is an inherited developmental disorder. More than 40% of individuals with TCS have conductive hearing loss attributed to external and middle ear anomalies. Mild cases of TCS often pass undiagnosed at birth or early childhood. The disease may be manifested as conductive hearing loss in teenagers and may resemble juvenile otosclerosis. Patients could suffer from slight facial variabilities including retrognathia (as in our case) and others, which point out to a possible middle ear anomaly. Surgical corrections of middle ear anomalies including TCS generally lead to poorer outcomes comparing with juvenile otosclerosis, which should be discussed with parents during preoperative counselling.

  14. [Systematic deviations of saccadic eye movements in Wallenberg syndrome].

    Science.gov (United States)

    Hamann, K U

    1979-01-01

    A patient suffering from lateral medullary infarction (Wallenberg's syndrome) is presented, exhibiting a striking bias of all saccadic eye movements toward the side of the lesion. Oculographic tracings demonstrate this oculomotor disorder. Other disturbances of ocular motility which resemble this one superficially are discussed. Interruption of fixation leads to a gliding movement veeringly to the side of the infarction. Since all saccades generated under different circumstances are affected, it is contemplated where the pathological signal is intruded into the prenuclear level, to adulterate all saccades causing lateropulsion of saccadic eye movements.

  15. HIV-2 and its role in conglutinated approach towards Acquired Immunodeficiency Syndrome (AIDS) Vaccine Development

    OpenAIRE

    Diwan, Batul; Saxena, Rupali; Tiwari, Archana

    2013-01-01

    Acquired Immunodeficiency Syndrome (AIDS) is one of the most critically acclaimed endemic diseases, caused by two lentiviruses HIV-1 and 2. HIV-2 displays intimate serological and antigenic resemblance to Simian Immunodeficiency Virus (SIV) along with less pathogenicity, lower infectivity and appreciable cross reactivity with HIV-1 antigens. The present era is confronted with the challenge to fabricate a vaccine effective against all clades of both the species of HIV. But vaccine development ...

  16. Carpal tunnel syndrome: A rare manifestation of distal radius osteoid osteoma.

    Science.gov (United States)

    Basran, Sukhvinder Singh; Kumar, Sandeep; Jameel, Javed; Sajid, Imran

    2015-09-01

    Osteoid Osteoma is a benign bone tumor that normally affects long bones and rarely affects distal radius. Because of its nonspecific presentation in the wrist, it remains a diagnostic challenge. We report an unusual case of Osteoid Osteoma at distal radius having symptoms resembling that of carpal tunnel syndrome. The diagnosis was confirmed preoperatively with X-rays; bone scintigraphy, CT, and MRI, later histological examination confirmed the diagnoses. Surgical excision lead to a dramatic improvement in the condition of the patient.

  17. Mesiodens with an unusual morphology and multiple impacted supernumerary teeth in a non-syndromic patient.

    Science.gov (United States)

    Srivatsan, Pavithra; Aravindha Babu, N

    2007-01-01

    Supernumerary teeth are a relatively frequent disorder of odontogenesis characterized by an excess number of teeth. Mesiodens is the most common type of supernumerary tooth found in the premaxilla between the two central incisors. They can be supplemental (resembling natural teeth), conical, tuberculate or molariform. We present the case of a 19 year-old girl who presented with a mesiodens of an unusual morphology and multiple impacted supernumerary teeth not associated with any syndrome.

  18. Mesiodens with an unusual morphology and multiple impacted supernumerary teeth in a non-syndromic patient

    Directory of Open Access Journals (Sweden)

    Srivatsan Pavithra

    2007-01-01

    Full Text Available Supernumerary teeth are a relatively frequent disorder of odontogenesis characterized by an excess number of teeth. Mesiodens is the most common type of supernumerary tooth found in the premaxilla between the two central incisors. They can be supplemental (resembling natural teeth, conical, tuberculate or molariform. We present the case of a 19 year-old girl who presented with a mesiodens of an unusual morphology and multiple impacted supernumerary teeth not associated with any syndrome.

  19. Trichorhinophalangeal syndrome

    Directory of Open Access Journals (Sweden)

    Mario Vaccaro

    2017-07-01

    Full Text Available Trichorhinophalangeal syndrome (TRPS is the collective name of three rare congenital conditions characterised by craniofacial and skeletal abnormalities. The three known types of TRPS have different modalities of genetic transmission: namely, TRPS I and III are inherited as an autosomal dominant disease, while the cases of TRPS II are essentially sporadic.The diagnosis of the different types of TRPS is based on clinical and radiological findings, eventually integrated by genetic analysis, particularly useful in some cases with the non-classical clinical presentation. Alopecia and structural abnormalities of the nose and the hands should be considered as clinical hallmarks, whereas endocrine disorders, renal alterations, ureteral reflux, heart pathology and bone dysplasia have been documented, in the setting of a multisystem involvement.

  20. Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis.

    Science.gov (United States)

    Kersnik Levart, Tanja

    2007-11-01

    Lesch-Nyhan syndrome is a very rare X-linked recessive disorder characterized by mental retardation, spasticity resembling cerebral palsy, choreo-athetosis, self-mutilation and hyperuricemia. Self-mutilative behavior is a hallmark of the disease. Hyperuricemia leads to hyperuricuria and uric acid nephrolithiasis. The underlying defect is a deficiency of hypoxanthine-guanine-phosphoribosyl transferase. We report on a 7-year-old boy with Lesch-Nyhan syndrome, lacking self-mutilative behavior, who was erroneously diagnosed as having athetotic cerebral palsy. He also had no renal stones; hyperechoic renal medullary pyramids were the only renal abnormality detected and were sonographically indistinguishable from medullary nephrocalcinosis.

  1. Do children and their parents eat a similar diet? Resemblance in child and parental dietary intake: systematic review and meta-analysis.

    Science.gov (United States)

    Wang, Y; Beydoun, M A; Li, J; Liu, Y; Moreno, L A

    2011-02-01

    Parents are believed to have a strong influence on children's eating behaviours. However, previous findings on child-parent resemblance in dietary intakes are mixed. We systematically reviewed and meta-analysed the association (correlations) based on published studies. We searched related studies published since 1980 and found 24 studies meeting inclusion criteria for review and 15 for meta-regression analysis. We compared the associations between parent-child pairs, nutrients, over time and by dietary assessment method. Most studies were based on small samples. Overall, they suggest a moderate or weak association, but findings varied remarkably. Our meta-analysis showed that average Fisher's transformed correlations were 0.20 (95% CI 0.13 to 0.28) for fat (% energy); for energy, 0.21 (0.18 to 0.24). The correlations varied by parent-child pairs, dietary assessment and countries. Food frequency questionnaires or mixed approaches yielded lower correlation than 24-h recalls or food records. Child self-reported intakes showed weaker correlation and better methodology quality showed stronger correlation in fat intake (% energy), which also became weaker over time. Overall, the resemblance is weak, and it varied considerably across studies, nutrients, foods and parent-child pairs.

  2. High-Fidelity Reprogrammed Human IPSCs Have a High Efficacy of DNA Repair and Resemble hESCs in Their MYC Transcriptional Signature

    Directory of Open Access Journals (Sweden)

    Pratik K. Nagaria

    2016-01-01

    Full Text Available Human induced pluripotent stem cells (hiPSCs are reprogrammed from adult or progenitor somatic cells and must make substantial adaptations to ensure genomic stability in order to become “embryonic stem cell- (ESC- like.” The DNA damage response (DDR is critical for maintenance of such genomic integrity. Herein, we determined whether cell of origin and reprogramming method influence the DDR of hiPSCs. We demonstrate that hiPSCs derived from cord blood (CB myeloid progenitors (i.e., CB-iPSC via an efficient high-fidelity stromal-activated (sa method closely resembled hESCs in DNA repair gene expression signature and irradiation-induced DDR, relative to hiPSCs generated from CB or fibroblasts via standard methods. Furthermore, sa-CB-iPSCs also more closely resembled hESCs in accuracy of nonhomologous end joining (NHEJ, DNA double-strand break (DSB repair, and C-MYC transcriptional signatures, relative to standard hiPSCs. Our data suggests that hiPSCs derived via more efficient reprogramming methods possess more hESC-like activated MYC signatures and DDR signaling. Thus, an authentic MYC molecular signature may serve as an important biomarker in characterizing the genomic integrity in hiPSCs.

  3. Molecular analysis of a case of nevus of ota showing progressive evolution to melanoma with intermediate stages resembling cellular blue nevus.

    Science.gov (United States)

    Gerami, Pedram; Pouryazdanparast, Pedram; Vemula, Swapna; Bastian, Boris C

    2010-05-01

    Nevus of Ota is a variant of congenital nevus, which is morphologically paucicellular and resembles a common blue nevus. Although nevus of Ota is a risk factor for uveal melanoma in white people, the development of cutaneous melanoma within nevus of Ota is a very rare occurrence with only a few reported cases. We present a case of a long-standing nevus of Ota, with radiologic imaging demonstrating a large retro-orbital mass and a biopsy showing melanoma. The histopathology of the eye exenteration specimen illustrated various stages of melanocytic progression including areas resembling a nevus of Ota, blue nevus, cellular blue nevus, and melanoma. There was heterogeneity in the overtly malignant sections with some areas displaying expansile nodules of blander appearing spindled cells, whereas other areas were composed of epithelioid cells with higher mitotic counts and zones of necrosis. The extensive lesion also infiltrated the soft tissue and bone. We performed gene mutation analysis for GNAQ, BRAF, NRAS, and KIT and fluorescence in situ hybridization (FISH) targeting commonly altered chromosomal loci in melanoma and comparative genomic hybridization (CGH). Copy number changes typical of melanoma were identified by both FISH and CGH in the morphologically malignant areas illustrating the relationship of tumor progression and the progressive acquisition of genetic aberrations.

  4. Alzheimer-like neurotransmitter deficits in adult Down's syndrome brain tissue.

    Science.gov (United States)

    Godridge, H; Reynolds, G P; Czudek, C; Calcutt, N A; Benton, M

    1987-01-01

    Brain tissue taken at necropsy from five cases of Down's syndrome and six controls was analysed for changes in neurotransmitter markers. Concentrations of noradrenaline (NA), dopamine (DA) and its major metabolite homovanillic acid (HVA), 5-hydroxytryptamine (5HT) and its metabolite 5-hydroxyindoleacetic acid (5HIAA) were determined by means of HPLC, whilst choline acetyltransferase (ChAT) was measured by a radiochemical technique. Significant reductions in NA, 5HT and ChAT were found in most cortical and subcortical regions of the Down's syndrome tissue investigated. The neuropathological lesions were assessed using a fluorescent stain for neuritic plaques and neurofibrillary tangles. These were present to varying extents in every Down's syndrome case except the youngest but were not found in control tissue of comparable age. The results indicate profound transmitter deficits and neuropathological abnormalities in adult patients with Down's syndrome, which closely resemble those of Alzheimer's disease. PMID:2440994

  5. [Features of the course of schizophrenia manifesting as an acute Kandinsky-Clérambault syndrome].

    Science.gov (United States)

    Dikaia, V I

    1986-01-01

    A clinical follow-up study of 57 schizophrenic patients revealed heterogeneity of the clinical role of acute Kandinsky-Clerambault syndrome in the picture of the disease. The author describes the syndrome of psychic automatism in the framework of "schizophrenic reactions" in the time-course of latent schizophrenia, in the picture of the attack in shift-like and recurrent course and in the structure of the shift resembling clinically the exacerbation of the continuously progressive process. The author also shows the correlation between the premanifest period, clinical mechanisms of the development of manifest psychosis, the structure of acute Kandinsky-Clerambault syndrome and the subsequent characteristics of the schizophrenia course. The question of prognostic significance of the differential approach to the assessment of acute Kandinsky-Clerambault syndrome and of its different clinical significance in the picture of clinical diseases is discussed.

  6. The different appearance of the oculodentodigital dysplasia syndrome.

    Science.gov (United States)

    Thomsen, M; Schneider, U; Weber, M; Niethard, F U

    1998-01-01

    We report on two families with the oculodentodigital (ODD) dysplasia syndrome, also called Meyer-Schwickerath syndrome. It represents a rare disorder characterized by eye and facial abnormalities causing a unique facial appearance. The phenotype of the young patients resembles those of identical twins. We found syndactyly mostly at the hands and, additionally, characteristic phalangeal aberrations, defects in teeth enamel, and trichosis. In the one family, the ODD dysplasia syndrome seemingly originated in a new mutation. The affected child was treated surgically in our clinic (syndactyly separation). In the other family, three patients (grandmother, mother, and granddaughter) were subjects of syndactyly separation. The aim of our surgeries was to separate the webbed fingers so there would be a normal spread and to improve the function and appearance of fingers. The ODD dysplasia syndrome correlates with the Hallermann-Streiff syndrome, or oculomandibulodyscephaly, which is characterized by a typical skull shape (brachicephaly with frontal brossing), a bird-like face, and eye abnormalities (congenital cataracts and microphthalmia).

  7. ADHD and genetic syndromes.

    Science.gov (United States)

    Lo-Castro, Adriana; D'Agati, Elisa; Curatolo, Paolo

    2011-06-01

    A high rate of Attention Deficit/Hyperactivity Disorder (ADHD)-like characteristics has been reported in a wide variety of disorders including syndromes with known genetic causes. In this article, we review the genetic and the neurobiological links between ADHD symptoms and some genetic syndromes such as: Fragile X Syndrome, Neurofibromatosis 1, DiGeorge Syndrome, Tuberous Sclerosis Complex, Turner Syndrome, Williams Syndrome and Klinefelter Syndrome. Although each syndrome may arise from different genetic abnormalities with multiple molecular functions, the effects of these abnormalities may give rise to common effects downstream in the biological pathways or neural circuits, resulting in the presentation of ADHD symptoms. Early diagnosis of ADHD allows for earlier treatment, and has the potential for a better outcome in children with genetic syndromes.

  8. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

    Science.gov (United States)

    Gilfillan, Gregor D; Selmer, Kaja K; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Mårten; Eiklid, Kristin; Kroken, Mette; Mattingsdal, Morten; Egeland, Thore; Stenmark, Harald; Sjøholm, Hans; Server, Andres; Samuelsson, Lena; Christianson, Arnold; Tarpey, Patrick; Whibley, Annabel; Stratton, Michael R; Futreal, P Andrew; Teague, Jon; Edkins, Sarah; Gecz, Jozef; Turner, Gillian; Raymond, F Lucy; Schwartz, Charles; Stevenson, Roger E; Undlien, Dag E; Strømme, Petter

    2008-04-01

    Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+)/H(+) exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.

  9. First Trimester Down Syndrome Screen

    Science.gov (United States)

    ... disorder such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The first trimester screen is one ... chromosome material that results in Down syndrome or Edwards syndrome , the levels of PAPP-A tend to be ...

  10. Genetics Home Reference: Alport syndrome

    Science.gov (United States)

    ... Alport Syndrome Recessive Type MalaCards: alport syndrome Merck Manual Consumer Version My46 Trait Profile Orphanet: Alport syndrome Patient Support and Advocacy Resources (3 links) Alport Syndrome Foundation National Organization for Rare Disorders (NORD) The Kidney Foundation of ...

  11. Genetics Home Reference: Werner syndrome

    Science.gov (United States)

    ... for This Condition Adult premature aging syndrome Adult Progeria Werner's Syndrome Werners Syndrome WS Related Information How ... BK, Monnat RJ Jr. Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. Nat ...

  12. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    ... PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? Down syndrome is a common birth defect that includes mental retardation and— often— heart problems. Children with Down syndrome have round faces and almond-shaped eyes that ...

  13. Genetics Home Reference: Donohue syndrome

    Science.gov (United States)

    ... resistance syndromes. These disorders, which also include Rabson-Mendenhall syndrome and type A insulin resistance syndrome , are ... of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore). 2004 ...

  14. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  15. Cushing syndrome in pediatrics.

    Science.gov (United States)

    Stratakis, Constantine A

    2012-12-01

    Cushing syndrome is characterized by truncal obesity, growth deceleration, skin changes, muscle weakness, and hypertension. Cushing syndrome in childhood usually results from the exogenous administration of glucocorticoids. This article presents the causes and discusses the treatment of endogenous Cushing syndrome. It also discusses the clinical and molecular genetics of inherited forms of this syndrome. Cushing syndrome needs to be diagnosed and treated properly when first recognized; improper treatment can turn this otherwise completely curable disorder into a chronic ailment. Barriers to optimal care of a pediatric patient with Cushing syndrome are discussed. Published by Elsevier Inc.

  16. Gitelman syndrome

    Directory of Open Access Journals (Sweden)

    Levtchenko Elena N

    2008-07-01

    Full Text Available Abstract Gitelman syndrome (GS, also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Transient periods of muscle weakness and tetany, sometimes accompanied by abdominal pain, vomiting and fever are often seen in GS patients. Paresthesias, especially in the face, frequently occur. Remarkably, some patients are completely asymptomatic except for the appearance at adult age of chondrocalcinosis that causes swelling, local heat, and tenderness over the affected joints. Blood pressure is lower than that in the general population. Sudden cardiac arrest has been reported occasionally. In general, growth is normal but can be delayed in those GS patients with severe hypokalemia and hypomagnesemia. GS is transmitted as an autosomal recessive trait. Mutations in the solute carrier family12, member 3 gene, SLC12A3, which encodes the thiazide-sensitive NaCl cotransporter (NCC, are found in the majority of GS patients. At present, more than 140 different NCC mutations throughout the whole protein have been identified. In a small minority of GS patients, mutations in the CLCNKB gene, encoding the chloride channel ClC-Kb have been identified. Diagnosis is based on the clinical symptoms and biochemical abnormalities (hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. Bartter syndrome (especially type III is the most important genetic disorder to consider in the differential diagnosis of GS. Genetic counseling is important. Antenatal diagnosis for GS

  17. Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

    Science.gov (United States)

    Long, Ashleigh; Sinkovskaya, Elena S; Edmondson, Andrew C; Zackai, Elaine; Schrier Vergano, Samantha A

    2016-12-01

    Kabuki syndrome (MIM 147920) is a well-described, multiple congenital anomaly syndrome characterized by growth and developmental delay, cardiac, renal, and vertebral anomalies, as well as persistent fetal finger pads and distinct facial features. Facies are characterized by long palpebral fissures with eversion of lateral third of the lower eyelid, resembling the "Kabuki make-up" theatre genre after which the syndrome is named. Kabuki syndrome is estimated to affect 1/32,000 births, with 55-80% of patients showing nonsense or frameshift mutations in the KMT2D (MLL2) gene, which encodes a histone transferase located on chromosome 12q. Additionally, owing to the heterogeneous nature of Kabuki syndrome, a smaller number of diagnosed patients have been identified with mutations or deletions in KDM6A (a component of the same transcriptional complex as KMT2D) with no mutations in KMT2D, or as those diagnosed with Kabuki syndrome and without alterations in either KMT2D or KDM6A. Diagnosis of the syndrome in newborns and infants is difficult, as the facial features are not as evident as in toddler- or childhood. There are no known "tell-tale" signs of Kabuki syndrome prenatally, and there are no reports of common, specific findings in fetuses that might suggest the diagnosis. We present here two infants who presented with prenatal hydrops/ascites, who were subsequently diagnosed with Kabuki syndrome. Although relatively non-specific, we suggest that Kabuki syndrome be added to the list of genetic syndromes that are suspected in cases of prenatal hydrops, review the molecular etiology of Kabuki syndrome, and broaden the phenotype of this well-described disorder. © 2016 Wiley Periodicals, Inc.

  18. Fused pulmonary lobes is a rat model of human Fraser syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kiyozumi, Daiji; Nakano, Itsuko [Laboratory of Extracellular Matrix Biochemistry, Institute for Protein Research, Osaka University, 3-2 Yamadaoka, Suita, Osaka 565-0871 (Japan); Takahashi, Ken L.; Hojo, Hitoshi; Aoyama, Hiroaki [Toxicology Division, Institute of Environmental Toxicology, 4321 Uchimoriya, Joso, Ibaraki 303-0043 (Japan); Sekiguchi, Kiyotoshi, E-mail: sekiguch@protein.osaka-u.ac.jp [Laboratory of Extracellular Matrix Biochemistry, Institute for Protein Research, Osaka University, 3-2 Yamadaoka, Suita, Osaka 565-0871 (Japan)

    2011-07-29

    Highlights: {yields} Fused pulmonary lobes (fpl) mutant rats exhibit similar phenotypes to Fraser syndrome. {yields} The fpl gene harbors a nonsense mutation in Fraser syndrome-associated gene Frem2. {yields} Fpl mutant is defined as a first model of human Fraser syndrome in rats. -- Abstract: Fused pulmonary lobes (fpl) is a mutant gene that is inherited in an autosomal recessive manner and causes various developmental defects, including fusion of pulmonary lobes, and eyelid and digit anomalies in rats. Since these developmental defects closely resemble those observed in patients with Fraser syndrome, a recessive multiorgan disorder, and its model animals, we investigated whether the abnormal phenotypes observed in fpl/fpl mutant rats are attributable to a genetic disorder similar to Fraser syndrome. At the epidermal basement membrane in fpl/fpl mutant neonates, the expression of QBRICK, a basement membrane protein whose expression is attenuated in Fraser syndrome model mice, was greatly diminished compared with control littermates. Quantitative RT-PCR analyses of Fraser syndrome-related genes revealed that Frem2 transcripts were markedly diminished in QBRICK-negative embryos. Genomic DNA sequencing of the fpl/fpl mutant identified a nonsense mutation that introduced a stop codon at serine 2005 in Frem2. These findings indicate that the fpl mutant is a rat model of human Fraser syndrome.

  19. Rare case of nephrotic syndrome: Schimke syndrome

    Directory of Open Access Journals (Sweden)

    Anna Kelly Krislane de Vasconcelos Pedrosa

    Full Text Available Abstract Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case.

  20. Polycystic ovary syndrome (PCOS) and endocrine disrupting chemicals (EDCs).

    Science.gov (United States)

    Palioura, Eleni; Diamanti-Kandarakis, Evanthia

    2015-12-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder of unclear etiopathogenesis that is likely to involve genetic and environmental components synergistically contributing to its phenotypic expression. Endocrine disrupting chemicals (EDCs) and in particular Bisphenol A (BPA) represent a group of widespread pollutants intensively investigated as possible environmental contributors to PCOS pathogenesis. Substantial evidence from in vitro and animal studies incriminates endocrine disruptors in the induction of reproductive and metabolic aberrations resembling PCOS characteristics. In humans, elevated BPA concentrations are observed in adolescents and adult PCOS women compared to reproductively healthy ones and are positively correlated with hyperandrogenemia, implying a potential role of the chemical in PCOS pathophysiology, although a causal interference cannot yet be established. It is plausible that developmental exposure to specific EDCs could permanently alter neuroendocrine, reproductive and metabolic regulation favoring PCOS development in genetically predisposed individuals or it could accelerate and/or exacerbate the natural course of the syndrome throughout life cycle exposure.