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Sample records for immunodeficiency syndromes finding

  1. Kaposi sarcoma related to acquired immunodeficiency syndrome: hepatic findings on computed tomography and magnetic resonance imaging

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    Costa, Daniel Nobrega da; Viana, Publio Cesar Cavalcante; Maciel, Rosangela Pereira; Rocha, Manoel de Souza; Gebrim, Eloisa Maria Mello Santiago [Universidade de Sao Paulo (USP), SP (Brazil). Hospital das Clinicas. Inst. de Radiologia]. E-mail: dnobrega@gmail.com

    2008-03-15

    Kaposi sarcoma is a neoplasm associated with immunosuppressive conditions, and involving blood and lymphatic vessels. It is the most frequent intrahepatic neoplasm in patients with acquired immunodeficiency syndrome. Computed tomography and magnetic resonance imaging demonstrate multiple small nodules, prominence and contrast-enhancement of periportal branches due to the presence of the neoplastic tissue. The authors report a case of a 47-year-old male patient with acquired immunodeficiency syndrome presenting disseminated Kaposi sarcoma. (author)

  2. Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome

    NARCIS (Netherlands)

    Cliffe, S.T.; Bloch, D.B.; Suryani, S.; Kamsteeg, E.J.; Avery, D.T.; Palendira, U.; Church, J.A.; Wainstein, B.K.; Trizzino, A.; Lefranc, G.; Akatcherian, C.; Megarbane, A.; Gilissen, C.; Moshous, D.; Reichenbach, J.; Misbah, S.; Salzer, U.; Abinun, M.; Ong, P.Y.; Stepensky, P.; Ruga, E.; Ziegler, J.B.; Wong, M.; Tangye, S.G.; Lindeman, R.; Buckley, M.F.; Roscioli, T.

    2012-01-01

    BACKGROUND: Mutations in the SP110 gene result in infantile onset of the autosomal recessive primary immunodeficiency disease veno-occlusive disease with immunodeficiency syndrome (VODI), which is characterized by hypogammaglobulinemia, T-cell dysfunction, and a high frequency of hepatic veno-occlus

  3. Is human immunodeficiency virus/acquired immunodeficiency syndrome decreasing among Brazilian injection drug users? Recent findings and how to interpret them

    Directory of Open Access Journals (Sweden)

    Francisco I Bastos

    2005-02-01

    Full Text Available We briefly review findings from Brazilian settings where the human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS epidemic among injection drug users (IDUs seems to be decreasing, highlighting recent findings from Rio de Janeiro and discussing methodological alternatives. Former analyses using serologic testing algorithm for recent HIV seroconversion have shown that HIV incidence has been low in IDUs recruited by two different surveys carried out in Rio, where low injection frequencies and infection rates have been found among new injectors. The proportion of AIDS cases among IDUs in Rio has been fairly modest, compared to São Paulo and especially to the southernmost states. Notwithstanding, the interpretation of findings from serial surveys constitutes a challenge, magnified in the assessment of HIV spread among IDUs due to the dynamic nature of the drug scenes and limitations of sampling strategies targeting hard-to-reach populations. Assessment of epidemic trends may profit from the triangulation of data, but cannot avert biases associated with sampling errors. Efforts should be made to triangulate data from different sources, besides exploring specific studies from different perspectives. In an attempt to further assess the observed trends, we carried out original analyses using data from Brazilian AIDS databank.

  4. Is human immunodeficiency virus/acquired immunodeficiency syndrome decreasing among Brazilian injection drug users? Recent findings and how to interpret them.

    Science.gov (United States)

    Bastos, Francisco I; Bongertz, Vera; Teixeira, Sylvia Lopes; Morgado, Mariza G; Hacker, Mariana A

    2005-02-01

    We briefly review findings from Brazilian settings where the human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) epidemic among injection drug users (IDUs) seems to be decreasing, highlighting recent findings from Rio de Janeiro and discussing methodological alternatives. Former analyses using serologic testing algorithm for recent HIV seroconversion have shown that HIV incidence has been low in IDUs recruited by two different surveys carried out in Rio, where low injection frequencies and infection rates have been found among new injectors. The proportion of AIDS cases among IDUs in Rio has been fairly modest, compared to São Paulo and especially to the southernmost states. Notwithstanding, the interpretation of findings from serial surveys constitutes a challenge, magnified in the assessment of HIV spread among IDUs due to the dynamic nature of the drug scenes and limitations of sampling strategies targeting hard-to-reach populations. Assessment of epidemic trends may profit from the triangulation of data, but cannot avert biases associated with sampling errors. Efforts should be made to triangulate data from different sources, besides exploring specific studies from different perspectives. In an attempt to further assess the observed trends, we carried out original analyses using data from Brazilian AIDS databank.

  5. Pathologic findings in the adrenal glands of autopsied patients with acquired immunodeficiency syndrome.

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    Rodrigues, Denise; Reis, Marlene; Teixeira, Vicente; Silva-Vergara, Mário; Filho, Dalmo Correia; Adad, Sheila; Lazo, Javier

    2002-01-01

    A morphologic evaluation was carried out on adrenal glands from 128 autopsied patients with the acquired immunodeficiency syndrome (AIDS). The adrenal gland was compromised in 99.2% of the cases, with distinct pathological features and infectious agents. Inflammatory infiltrates were observed in 99.2% of the cases with a predominance of mononuclear cells in 97.4%, affecting mainly the medulla. Necrosis, fibrosis, hemorrhages and neoplasias were observed. We also described 3 (2.3%) cases of calcification located in the adrenal gland central vein (AGCV). This is seldom mentioned in the literature. Cytomegalovirus was the most frequent infectious agent, observed in 48.4% of cases. Balamuthia mandrillaris, a free living ameba, was found in one case affecting the entire gland. We also found a nest of Trypanosoma cruzi in the musculature of the AGCV. The presence of the nest of T cruzi in AGCV may play a role in the reactivation of this infection in immunosuppressed individuals. Pathologic processes and opportunistic infections may contribute to the alterations in the adrenal gland that lead to multiple organ failure observed in terminal AIDS patients.

  6. Do Students Eventually Get to Publish their Research Findings? The Case of Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome Research in Cameroon.

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    Munung, Ns; Vidal, L; Ouwe-Missi-Oukem-Boyer, O

    2014-05-01

    Scientific publication is commonly used to communicate research findings and in most academic/research settings, to evaluate the potential of a researcher and for recruitment and promotion. It has also been said that researchers have the duty to make public, the findings of their research. As a result, researchers are encouraged to share their research findings with the scientific world through peer review publications. In this study, we looked at the characteristics and publication rate of theses that documented studies on human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome in Cameroon. TO CHECK IF A THESIS RESULTED IN A PUBLICATION, WE SEARCHED: A database of publications on HIV in Cameroon, African Journals Online, PubMed and Google scholar. For each publication we recorded if the student was an author, the position of the student in the author listing, the journal and where the journal was indexed. We also looked at the impact factor of the journals. One hundred and thirty theses/dissertations were included in the study, 74.6% (97/130) were written as part of a medical degree (MD), 23.8% (31/130) a postgraduate (PG) degree and 1.5% (2/130) for a Doctorate/PhD. On a whole, 13.9% (18/130) of the theses resulted in at least one publication in a scientific journal with a total of 22 journal articles, giving a mean publication rate of 0.17 article/thesis, 86.4% (11/22) were indexed on PubMed, 9.1% (2/22) on African Journals Online and 4.6% (1/22) on Google scholar. One PG thesis led to two book chapters. The student was the first author in 22.7% (5/22) of the articles and not an author in 9.1% (2/22) of the articles. Student supervisor was an author in all the articles. This study reveals that most students in Cameroon failed to transform their theses/dissertations to scientific publications. This indicates an urgent need to sensitize students on the importance of presenting their research findings in scientific meetings and peer reviewed journals

  7. Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.

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    Cliffe, Simon T; Bloch, Donald B; Suryani, Santi; Kamsteeg, Erik-Jan; Avery, Danielle T; Palendira, Umaimainthan; Church, Joseph A; Wainstein, Brynn K; Trizzino, Antonino; Lefranc, Gérard; Akatcherian, Carlo; Megarbané, André; Gilissen, Christian; Moshous, Despina; Reichenbach, Janine; Misbah, Siraj; Salzer, Uli; Abinun, Mario; Ong, Peck Y; Stepensky, Polina; Ruga, Ezia; Ziegler, John B; Wong, Melanie; Tangye, Stuart G; Lindeman, Robert; Buckley, Michael F; Roscioli, Tony

    2012-09-01

    Mutations in the SP110 gene result in infantile onset of the autosomal recessive primary immunodeficiency disease veno-occlusive disease with immunodeficiency syndrome (VODI), which is characterized by hypogammaglobulinemia, T-cell dysfunction, and a high frequency of hepatic veno-occlusive disease. We sought to further characterize the clinical features, B-lineage cellular immunologic findings, and molecular pathogenesis of this disorder in 9 patients with new diagnoses, including 4 novel mutations from families of Italian, Hispanic, and Arabic ethnic origin. Methods used include clinical review; Sanger DNA sequencing of the SP110 gene; determination of transfected mutant protein function by using immunofluorescent studies in Hep-2 cells; quantitation of B-cell subsets by means of flow cytometry; assessments of B-cell function after stimulation with CD40 ligand, IL-21, or both; and differential gene expression array studies of EBV-transformed B cells. We confirm the major diagnostic criteria and the clinical utility of SP110 mutation testing for the diagnosis of VODI. Analysis of 4 new alleles confirms that VODI is caused by reduced functional SP110 protein levels. Detailed B-cell immunophenotyping demonstrated that Sp110 deficiency compromises the ability of human B cells to respond to T cell-dependent stimuli and differentiate into immunoglobulin-secreting cells in vitro. Expression microarray studies have identified pathways involved in B-lymphocyte differentiation and macrophage function. These studies show that a range of mutations in SP110 that cause decreased SP110 protein levels and impaired late B-cell differentiation cause VODI and that the condition is not restricted to the Lebanese population. Copyright © 2012 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.

  8. Can we find a solution to the human immunodeficiency virus/acquired immune deficiency syndrome controversy? Is acquired immune deficiency syndrome the consequence of continuous excessive stressing of the body?

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    Hässig, A; Wen-Xi, L; Stampfli, K

    1996-04-01

    The time of re-evaluation of the role of human immunodeficiency viruses in the pathogenesis of acquired immune deficiency syndrome has now come, now that methods are available for the direct detection of human immunodeficiency viruses and for the detection of cellular anti-human immunodeficiency virus immune reactions. It has been shown that human immunodeficiency virus infections are common among anti-human immunodeficiency virus antibody negative high-risk individuals. The disease is brought under control by cellular immune reactions and the anti-human immunodeficiency virus antibody test remains negative. Apart from proof that infection with human immunodeficiency viruses has occurred, a positive result in an anti-human immunodeficiency virus-antibody test is also an indication of an independent immunosuppression state. According to the definition of the Centers of Disease Control classical acquired immune deficiency syndrome is the consequence of infection with human immunodeficiency virus in association with continuous excessive stress, such as observed in the known risk groups. At the center of the pathogenetic process is hypercortisolism-determined damage of T lymphocytes, in which insufficiency of thymus is prominent. For this reason, in our view, there are indications for shifting efforts from the prophylaxis of infection with human immunodeficiency viruses to the prophylaxis of acquired immune deficiency syndrome by reducing stress factors.

  9. Pathology of thyroid in acquired immunodeficiency syndrome

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    Dhaneshwar Namdeorao Lanjewar

    2016-01-01

    Full Text Available Background: The course of human immunodeficiency virus infection and the acquired immunodeficiency syndrome can be complicated by a variety of endocrine abnormalities, including abnormalities of thyroid gland. Materials and Methods: This study was designed to understand the spectrum of pathology of thyroid in Indian patients with AIDS. The present study describes the findings of retrospective autopsy findings of 158 patients with AIDS which revealed infectious diseases from a time period before the use of highly active antiretroviral regimen. Results: A wide range of bacterial, fungal, and viral infections were observed. Tuberculosis was recorded in 14 (09% patients, Cryptococcus neoformans in 11 (7% patients and cytomegalovirus in 3 (2% patients. Hashimoto's thyroiditis and lymphocytic thyroiditis were seen in 02 (01% patients each. One patient had dual infection comprising of tuberculosis and cytomegalovirus infection. The other microscopic findings observed were goiter (2 patients, interstitial fibrosis in thyroid (7 patients, and calcification in thyroid (8 patients. Conclusions: Abnormalities of thyroid are uncommon findings in patients with HIV infection however several case reports of thyroid involvement by infectious agents and neoplasm are described in these patients; hence patients with HIV infection should be closely followed up for development of goiter or abnormalities of thyroid functions.

  10. A chromosomal breakage syndrome with profound immunodeficiency.

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    Conley, M E; Spinner, N B; Emanuel, B S; Nowell, P C; Nichols, W W

    1986-05-01

    The chromosomal breakage syndromes--ataxia-telangiectasia, Fanconi's anemia, and Bloom's syndrome--are associated with growth failure, neurologic abnormalities, immunodeficiency, and an increased incidence of malignancy. The relationship between these features is unknown. We recently evaluated a 21-year-old female with more severe chromosomal breakage, immunodeficiency, and growth failure than in any of the mentioned disorders. As of November 1985, the patient remains clinically free of malignancy. At age 18, the patient's weight was 22.6 kg (50th percentile for seven years), height was 129 cm (50th percentile for eight years), and head circumference was 42 cm (50th percentile for six months). Laboratory studies demonstrated a marked decrease in both B and T cell number and function. The peripheral blood contained 400 to 900 lymphocytes/microL with 32% T11 cells, 17% T4 cells, and 21% T8 cells. The proliferative responses to phytohemagglutinin (PHA), pokeweed mitogen, and concanavalin A were less than 10% of control. There were 1% surface IgM positive cells, and serum IgG was 185 mg/dL, IgM 7 mg/dL, IgA 5 mg/dL. In lymphocyte cultures stimulated with the T cell mitogens PHA, phorbol ester, and interleukin 2, 55% of the banded metaphases demonstrated breaks or rearrangements. The majority of the breaks involved four fragile sites on chromosomes 7 and 14, 7p13, 7q35, 14q11, and 14q32. These are the sites of the genes for the T cell-antigen receptor and the immunoglobulin heavy chain and are sites of gene rearrangement in lymphocyte differentiation. Epstein-Barr virus stimulated B cells and fibroblast cultures also demonstrated a high incidence of breaks, but the sites were less selective. These findings suggest that the sites of chromosomal fragility in the chromosomal breakage syndromes may be informative and that factors other than the severity of the immunodeficiency or the high incidence of chromosomal damage may contribute to the occurrence of malignancy in the

  11. Imaging findings of disseminated pulmonary tuberculosis in patients with acquired immunodeficiency syndrome%艾滋病并发肺结核播散的影像表现

    Institute of Scientific and Technical Information of China (English)

    宋文艳; 赵祖琦; 赵大伟; 刘晋新; 官宛华; 梁艺; 贾翠宇; 张瑞池

    2013-01-01

    Objective To study the imaging findings of disseminated pulmonary tuberculosis in patients with acquired immunodeficiency syndrome (AIDS).Methods X-ray and multi-slice CT (MSCT)data from 33 AIDS patients with disseminated pulnonary tuberculosis confirmed by clinical manifestations and laboratory tests were analyzed retrospectively.Results Thirty patients underwent initial chest radiography examination,29 patients showed abnormal appearances,including bilateral disseminations in 21 patients and unilateral multiple disseminations in 8 patients.All patients underwent MSCT examination,26 patients showed bilateral disseminations and 7 patients showed unilateral multiple disseminations.The abnormal pulmonary appearances included nodule (n =25),miliary nodule (n =22),air-space consolidation (n =22),cavity (n =11),fibrosis (n =7),ground-glass opacity (n =7),pneumatocele (n =4),calcification (n =2).There were 20 patients with more than 3 abnormal appearances and 13 patients with one or two abnormal appearances.The extra-pulmonary tuberculosis included pleural effusion (n =33),lymphadenopathy (n =30),intestinal tuberculosis (n =3),splenic tuberculosis (n =1) and cerebral tuberculosis (n =1).Conclusion Disseminated pulmonary tuberculosis should be highly suspected in AIDS patients with diffused nodules,miliary nodules,air-space consolidations or multiple cavities,accompanied with pleural effusion and lymphadenopathy.%目的 探讨艾滋病(AIDS)并发肺结核肺内播散的影像特点.方法 回顾性分析经临床及实验室检查证实的33例AIDS并发肺结核肺内播散的X线胸片及MSCT影像资料,总结其影像表现特征.结果 首诊X线胸片检查30例,29例表现异常,包括病灶呈双侧播散性分布21例,单侧多发病变8例.所有患者均行MSCT扫描,病变呈单侧和双侧肺内多发分布分别为7例和26例;病变形态包括结节(25例)、粟粒(22例)、气腔实变(22例)、空洞(11例)、纤维索条(7例)、磨玻璃影(7

  12. Early diagnosis of severe combined immunodeficiency syndrome.

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    Hague, R A; Rassam, S; Morgan, G; Cant, A. J.

    1994-01-01

    Infants with severe combined immunodeficiency syndrome (SCIDS) have a greatly improved prognosis if diagnosed and treated before they develop overwhelming infection. Clinical and laboratory data on 45 patients with SCIDS were retrospectively reviewed to assess the value of absolute lymphocyte counts in making an early diagnosis. Ninety infants matched for age, sex, and presenting symptoms were used as controls. Thirteen (29%) infants with SCIDS were diagnosed at birth as previous siblings had...

  13. Relationship between current level of immunodeficiency and non-acquired immunodeficiency syndrome-defining malignancies

    DEFF Research Database (Denmark)

    Reekie, Joanne; Kosa, Csaba; Engsig, Frederik;

    2010-01-01

    In the combined antiretroviral therapy (cART) era, non-acquired immunodeficiency syndrome (AIDS)-defining malignancies account for more morbidity and mortality in human immunodeficiency virus-infected patients than AIDS-defining malignancies. However, conflicting data have been reported on the re......In the combined antiretroviral therapy (cART) era, non-acquired immunodeficiency syndrome (AIDS)-defining malignancies account for more morbidity and mortality in human immunodeficiency virus-infected patients than AIDS-defining malignancies. However, conflicting data have been reported...... on the relationship between immunodeficiency and the development of some non-AIDS-defining malignancies....

  14. The acquired immunodeficiency syndrome in gay men.

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    Jaffe, H W; Hardy, A M; Morgan, W M; Darrow, W W

    1985-11-01

    The acquired immunodeficiency syndrome (AIDS) is a major health problem for gay men in the United States. About three fourths of all reported cases have occurred in this population, and the number is projected to double in the next year. In Manhattan and San Francisco, AIDS is now the leading cause of premature mortality in men aged 25 to 44 years who have never married. In a sample of a cohort of gay men enrolled in a San Francisco clinic, 2.7% of the men had the syndrome and 26% had related conditions in 1984. Antibody to human T-lymphotropic virus, type III/lymphadenopathy-associated virus was found in sera from 67% of the men, including 58% of asymptomatic men. Behavioral factors associated with an increased risk of AIDS include large numbers of sexual partners, receptive anal intercourse, and "fisting." The adoption of safer lifestyles is currently the basis of attempts to control the syndrome in gay men.

  15. Mobious syndrome: MR findings

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    Maskal Revanna Srinivas

    2016-01-01

    Full Text Available Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed.

  16. [Acquired immunodeficiency syndrome in pediatric patients].

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    Molina Moguel, J L; Ruiz Illezcas, R; Forsbach Sánchez, S; Carreño Alvarez, S; Picco Díaz, I

    1990-12-01

    The object of this study was to determine how many of the patients treated at the Pediatric Odontology Clinic, a branch of the Maxillo-Facial Surgery Service at the Veinte de Noviembre Regional Hospital, ISSSTE, are VIH-positive of show serious manifestations of Acquired Immuno-Deficiency Syndrome (AIDS). For such purpose, 100 pediatric patients suffering from different systemic or local diseases were evaluated, the most common being hematological alterations. Results evidenced the presence of VIH in the blood of five of the pediatric subjects, all suffering from Hemophilia.

  17. Omenn’s Syndrome: A rare primary immunodeficiency disorder

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    Elnour, Ibtisam B; Ahmed, Shakeel; Halim, Kamal; Nirmala, V

    2007-01-01

    Over the last 17 years different forms of severe combined immunodeficiency have been diagnosed at Sultan Qaboos University Hospital, Muscat. Omenn’s syndrome is a rare autosomal recessive form of severe combined immunodeficiency. We report a 6 weeks old Omani infant who presented with the characteristic clinical and immunological phenotype of Omenn’s syndrome. We take the opportunity to discuss and review the immunological aspect of this rare syndrome.

  18. Cytomegalovirus retinitis associated with acquired immunodeficiency syndrome

    Institute of Scientific and Technical Information of China (English)

    GENG Shuang; YE Jun-jie; ZHAO Jia-liang; LI Tai-sheng; HAN Yang

    2011-01-01

    Background Cytomegalovirus (CMV) retinitis is the most severe intraocular complication that results in total retinal destruction and loss of visual acuity in patients with acquired immunodeficiency syndrome (AIDS). This study aimed to investigate the fundus characteristics, systemic manifestations and therapeutic outcomes of CMV retinitis associated with AIDS.Methods It was a retrospective case series. CMV retinitis was present in 39 eyes (25 patients). Best corrected visual acuities, anterior segment, fundus features, fundus fluorescence angiography (FFA) and CD4+ T-lymphocyte counts of the patients with CMV retinitis associated with AIDS were analyzed. Intravitreal injections of ganciclovir (400 μg) were performed in 4 eyes (2 patients).Results Retinal vasculitis, dense, full-thickness, yellow-white lesions along vascular distribution with irregular granules at the border, and hemorrhage on the retinal surface were present in 28 eyes. The vitreous was clear or mildly opaque.Late stage of the retinopathy was demonstrated in 8 eyes characterized as atrophic retina, sclerotic and attenuated vessels, retinal pigment epithelium (RPE) atrophy, and optic nerve atrophy. Retinal detachment was found in 3 eyes. The average CD4+ T-lymphocyte count in peripheral blood of the patients with CMV retinitis was (30.6±25.3) ×106/L (range,(0-85) × 106/L). After intravitreal injections of ganciclovir, visual acuity was improved and fundus lesions regressed.Conclusions CMV retinitis is the most severe and the most common intraocular complication in patients with AIDS. For the patients with yellow-white retinal lesions, hemorrhage and retinal vasculitis without clear cause, human immunodeficiency virus (HIV) serology should be performed. Routine eye examination is also indicated in HIV positive patients.

  19. Goldenhar syndrome: a cause of secondary immunodeficiency?

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    De Golovine Serge

    2012-07-01

    Full Text Available Abstract Goldenhar syndrome (GS results from an aberrant development of the 1st and 2nd branchial arches. There is a wide range of clinical manifestations, the most common being microtia, hemifacial microsomia, epibulbar dermoids and vertebral malformations. We present two cases of GS and secondary immunodeficiency due to anatomical defects characteristic of this disorder. Case 1 (3-year-old female averaged 6 episodes of sinusitis and otitis media per year. Case 2 (7-year-old female also had recurrent otitis media, an episode of bacterial pneumonia, and 2 episodes of bacterial meningitis. Their immune evaluation included a complete blood count with differential, serum immunoglobulin levels and specific antibody concentrations, lymphocyte phenotyping, and mitogen and antigen responses, the results of which were all within normal ranges. Both children demonstrated major structural abnormalities of the inner and middle ear structures, retention of fluid in mastoid air cells, and chronic sinusitis by computed tomography. These two cases illustrate how a genetically-associated deviation of the middle ear cleft can cause recurrent infections and chronic inflammation of the middle ear and adjacent sinuses, even meninges, leading to a greatly reduced quality of life for the child and parents.

  20. Cholecystitis in a child with acquired immunodeficiency syndrome: ultrasonographic findings in a case of uncommon presentation during childhood; Colecistitis en un nino con sida: hallazgos ecograficos en una forma infrecuente de presentacion en la infancia

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    Rubi-Palomares, I.; Martinez-Leon, M. I.; Alonso-Usabiaga, I.; Ceres-Ruiz, L. [Hospital Materno Infantil del C.H.U. Carlos Haya. Malaga (Spain)

    2001-07-01

    We present the case of a boy with acquired immunodeficiency syndrome (AIDS) in whom ultrasound revealed the presence of acalculous cholecystitis. Abdominal ultrasound was essential in the initial diagnosis and the assessment of the response to treatment. This entity has rarely been reported in the pediatric radiology literature. In our patient, the cholecystitis may have been caused by infection, and the involvement of regional lymphatic obstruction in the pathogenesis is considered. (Author) 14 refs.

  1. Opportunistic Neurologic Infections in Patients with Acquired Immunodeficiency Syndrome (AIDS).

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    Albarillo, Fritzie; O'Keefe, Paul

    2016-01-01

    Infections of the central nervous system (CNS) in individuals with human immunodeficiency virus (HIV) remain a substantial cause of morbidity and mortality despite the introduction of highly active antiretroviral therapy (HAART) especially in the resource-limited regions of the world. Diagnosis of these infections may be challenging because findings on cerebrospinal fluid (CSF) analysis and brain imaging are nonspecific. While brain biopsy provides a definitive diagnosis, it is an invasive procedure associated with a relatively low mortality rate, thus less invasive modalities have been studied in recent years. Diagnosis, therefore, can be established based on a combination of a compatible clinical syndrome, radiologic and CSF findings, and understanding of the role of HIV in these infections. The most common CNS opportunistic infections are AIDS-defining conditions; thus, treatment of these infections in combination with HAART has greatly improved survival.

  2. Human immunodeficiency virus/acquired immunodeficiency syndrome and tropical diseases: a Brazilian perspective

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    Mariza G Morgado

    2000-01-01

    Full Text Available The paper summarizes recent findings on the epidemiology and pathogenesis of human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/Aids, highlighting the role of co-infections with major tropical diseases. Such co-infections have been studied in the Brazilian context since the beginning of the Aids epidemic and are expected to be more frequent and relevant as the Aids epidemic in Brazil proceeds towards smaller municipalities and the countryside, where tropical diseases are endemic. Unlike opportunistic diseases that affect basically the immunocompromised host, most tropical diseases, as well as tuberculosis, are pathogenic on their own, and can affect subjects with mild or no immunossuppression. In the era of highly active anti-retroviral therapies (HAART, opportunistic diseases seem to be on decrease in Brazil, where such medicines are fully available. Benefiting from HAART in terms of restoration of the immune function, putative milder clinical courses are expected in the future for most co-infections, including tropical diseases. On the other hand, from an ecological perspective, the progressive geographic diffusion of Aids makes tropical diseases and tuberculosis a renewed challenge for Brazilian researchers and practitioners dealing with HIV/Aids in the coming years.

  3. Antibody testing and counseling of dental patients at risk for human immunodeficiency virus (HIV) infection and associated clinical findings.

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    Murrah, V A; Scholtes, G A

    1988-10-01

    Two hundred six dental patients were tested between 1985 and 1987 for antibodies to human immunodeficiency virus (HIV) when a review of their medical histories revealed a high risk for infection. Serologic results are correlated with soft tissue and osseous findings recorded during routine head and neck and radiographic examination. Counseling recommendations for use in association with testing are outlined. A more active role for the dentist as a preventive agent is advocated to combat the spread of acquired immunodeficiency syndrome (AIDS).

  4. Genetic, Clinical, and Laboratory Markers for DOCK8 Immunodeficiency Syndrome

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    Jeremiah C. Davis

    2010-01-01

    Full Text Available DOCK8 immunodeficiency syndrome (DIDS is a combined immunodeficiency characterized by recurrent viral infections, severe atopy, and early onset malignancy. Genetic studies revealed large, unique deletions in patients from different families and ethnic backgrounds. Clinical markers of DIDS include atopic dermatitis, allergies, cutaneous viral infections, recurrent respiratory tract infections, and malignancy. Immune assessments showed T cell lymphopenia, hyper-IgE, hypo-IgM, and eosinophilia. The impaired lymphocyte functions in DIDS patients appear central for disease pathogenesis.

  5. Improving Acquired Immunodeficiency Syndrome Related Cancer Outcomes through International Collaboration

    Institute of Scientific and Technical Information of China (English)

    Mostafa Nokta

    2011-01-01

    @@ The spectrum of cancers seen in human immunodeficiency virus (HIV)infected individuals is diverse and complex,and reflects an ever-changing HIV epidemic.In parts of the world where combination antiretroviral therapy (cART) is available,HIV-infected patients are living longer and are less likely to die of acquired immunodeficiency syndrome (AIDS)defining malignancies within a year or two of developing AIDS.

  6. State policies and the financing of acquired immunodeficiency syndrome care.

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    Pascal, A; Cvitanic, M; Bennett, C; Gorman, M; Serrato, C A

    1989-01-01

    State policies, with respect to the operation of Medicaid programs and the regulation of private health insurance, affect who gets what care, how much is spent, and who ultimately pays. A RAND Corporation study was used to assess States and the District of Columbia in terms of the effects of their Medicaid and health insurance regulations on people with acquired immunodeficiency syndrome and other human immunodeficiency virus-related illnesses. State characteristics are used to explain the individual State policy rankings.

  7. CT features of pulmonary mycobacterial disease in patients with acquired immunodeficiency syndrome

    Institute of Scientific and Technical Information of China (English)

    朱莹

    2013-01-01

    Objective To study the CT features of pulmonary non-tuberculous mycobacteria (NTM) disease in patients with acquired immunodeficiency syndrome (AIDS) and explore the different CT appearances between AIDS-NTM and AIDS-TB. Methods CT findings of pulmonary NTM

  8. Myopericarditis in acquired immunodeficiency syndrome diagnosed by gallium scintigraphy

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    Cregler, L.L.; Sosa, I.; Ducey, S.; Abbey, L. (Bronx VA Medical Center, NY (USA))

    1990-07-01

    Myocarditis is among the cardiac complications of acquired immunodeficiency syndrome and, yet, is often not discovered until autopsy. Gallium scintigraphy has been employed in diagnosing this entity, but few data are available about its diagnostic accuracy and value. Here, the authors report two cases of myopericarditis as diagnosed by gallium scan.

  9. Successful treatment for West syndrome with severe combined immunodeficiency.

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    Motobayashi, Mitsuo; Inaba, Yuji; Fukuyama, Tetsuhiro; Kurata, Takashi; Niimi, Taemi; Saito, Shoji; Shiba, Naoko; Nishimura, Takafumi; Shigemura, Tomonari; Nakazawa, Yozo; Kobayashi, Norimoto; Sakashita, Kazuo; Agematsu, Kazunaga; Ichikawa, Motoki; Koike, Kenichi

    2015-01-01

    Several immune mechanisms are suspected in the unknown etiology of West syndrome (WS). We report a male infant who suffered from WS and X-linked T-B+NK- severe combined immunodeficiency (X-SCID) with a missense mutation of the IL2RG gene (c.202G>A, p.Glu68Lys). He promptly began vitamin B6 and valproic acid treatment, but infantile spasms (IS) and hypsarrhythmia persisted. Administration of intravenous immunoglobulin and the change to topiramate (TPM) at 7 months of age resulted in the rapid resolution of IS. The CD4/8 ratio in his peripheral blood increased from 0.04-0.09 to 0.20-1.95 following unrelated cord blood transplantation (UCBT). In vitro lymphocyte proliferation in response to phytohemagglutinin or concanavalin A and the ability of B lymphocytes to produce antibodies improved as well. Electroencephalogram findings became normal 1 month after UCBT. Thus, we consider that T-cell dysfunction and/or impairments in T-B cell interactions due to X-SCID may have played important roles in the onset of WS. Immune-modulating therapies along with the administration of TPM effectively treated this severe epileptic syndrome in our patient.

  10. Immunodeficiency, radiosensitivity, and the XCIND syndrome.

    Science.gov (United States)

    Gatti, Richard A; Boder, Elena; Good, Robert A

    2007-01-01

    Through the analysis of a rare disorder called ataxia-telangiectasia (A-T), many important biological lessons have been gleaned. Today, it is clear that the underlying defect of A-T lies in the nucleus, as an inability to repair or process double strand breaks. More important, by the A-T phenotype now allows us to appreciate a much more general distinction between immunodeficiencies that are radiosensitive and those that are not.

  11. Health Administrator Perspectives on Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome Prevention and Services at Historically Black Colleges and Universities

    Science.gov (United States)

    Warren-Jeanpiere, Lari; Jones, Sandra; Sutton, Madeline Y.

    2011-01-01

    Objective: Due to the disproportionate impact of human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) among African American young adults, the authors explored (1) number of historically black college and university (HBCU) campuses with existing HIV prevention policies and services and (2) perceived barriers for implementing…

  12. Acquired immunodeficiency syndrome associated with blood-product transfusions

    Energy Technology Data Exchange (ETDEWEB)

    Jett, J.R.; Kuritsky, J.N.; Katzmann, J.A.; Homburger, H.A.

    1983-11-01

    A 53-year-old white man had fever, malaise, and dyspnea on exertion. His chest roentgenogram was normal, but pulmonary function tests showed impaired diffusion capacity and a gallium scan showed marked uptake in the lungs. Results of an open-lung biopsy documented Pneumocystis carinii pneumonia. Immunologic test results were consistent with the acquired immunodeficiency syndrome. The patient denied having homosexual contact or using intravenous drugs. Twenty-nine months before the diagnosis of pneumocystis pneumonia was made, the patient had had 16 transfusions of whole blood, platelets, and fresh-frozen plasma during coronary artery bypass surgery at another medical center. This patient is not a member of any currently recognized high-risk group and is believed to have contracted the acquired immunodeficiency syndrome from blood and blood-product transfusions.

  13. Cerebral computed tomography in men with acquired immunodeficiency syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Brun, B.; Boesen, F.; Gerstoft, J.; Nielsen, J.O.; Praestholm, J.

    Cerebral CT scannings were performed in 19 homosexual men with the acquired immunodeficiency syndrome (AIDS). Nearly half of them (9 patients) had cortical atrophy. Three patients with toxoplasmosis had cerebral pathology, in two of them with ring enhancement while the third had an ill-defined nonspecific lesion with slight heterogeneous enhancement without ring formation. Two patients with multifocal leucoencephalopathy and non-Hodgkin's lymphoma, respectively, presented non-enhancing, low attenuating lesions at CT.

  14. Brazilian response to the human immunodeficiency virus/acquired immunodeficiency syndrome epidemic among injection drug users.

    Science.gov (United States)

    Mesquita, Fábio; Doneda, Denise; Gandolfi, Denise; Nemes, Maria Inês Battistella; Andrade, Tarcísio; Bueno, Regina; Piconez e Trigueiros, Daniela

    2003-12-15

    The Brazilian response to the human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) epidemic is being observed all over the world because of its success. Understanding the role of injection drug users (IDUs) in the epidemic and the political response thereto is a key factor in the control of the epidemic in Brazil. This paper summarizes some of the most important analyses of the Brazilian response to the HIV/AIDS epidemic among and from IDUs. Key elements of the response include the support of the Brazilian Universal Public Health System, the provision of universal access to highly active antiretroviral therapy, and the creation of harm reduction projects that are politically and financially supported by the federal government. The response among and from IDUs is a key element in overall control of the HIV/AIDS epidemic. The response to the epidemic among and from IDUs has been headed in the correct direction since its beginning and is now being intensively expanded.

  15. Acquired immunodeficiency syndrome and its ocular complications

    Directory of Open Access Journals (Sweden)

    Rao Narsing

    1994-01-01

    Full Text Available Human immunodeficiency virus infection is the first major pandemic of the 20th century. At present, almost 10 million people are known to be infected with this virus, and it is estimated that by the year 2000, approximately 40 million people will be infected. Transmission of this deadly infection is predominantly by sexual contact. Individuals infected with this virus pass through several predictable stages with progressive decrease in circulating CD4+ T cells. During the advanced stage, these patients develop various opportunistic infections or malignancies, or both. It is this advanced stage that was first recognized as AIDS, which has a 100% mortality rate. The opportunistic organisms that can involve the eye in patients with AIDS include cytomegalovirus, herpes zoster, Toxoplasma gondii, Mycobacterium tuberculosis, Cryptococcus neoformans, Mycobacterium avium-intracellulare, Pneumocystis carinii, Histoplasma capsulatum, Candida, and others. Intraocular lesions from these agents often represent disseminated infections. Visual morbidity occurs secondary to retinitis due to cytomegalovirus, herpes zoster, or Toxoplasma gondii. Anti-viral agents such as ganciclovir or foscarnet are effective against cytomegalovirus infection. The role of the ophthalmologist in the diagnosis and management of AIDS is becoming increasingly important. Not only does the eye reflect systemic disease, but ocular involvement may often precede systemic manifestations. In the AIDS patient, the ophthalmologist thus has an opportunity to make not only a slight-saving, but also life-saving diagnosis of disseminated opportunistic infections.

  16. [A case of acquired immunodeficiency syndrome with ileocecal ulcer].

    Science.gov (United States)

    Iwasaki, Tetsuyoshi; Saruta, Masayuki; Sawada, Ryoichi; Ide, Daisuke; Arihiro, Seiji; Matsuoka, Mika; Katoh, Tomohiro; Tajiri, Hisao

    2015-10-01

    We report a case of a patient with acquired immunodeficiency syndrome (AIDS) and ileocecal ulcer. A 31-year-old man was admitted with chief complaints of decreased body weight and abdominal pain. Colonoscopy revealed a round punched-out ulcer on the ileocecal valve. Initially, we suspected entero-Behçet's disease and simple ulcer as the cause of the ileocecal ulcer. However, after histologic examination of tissue biopsies obtained during colonoscopy, we diagnosed the patient as having cytomegalovirus (CMV) enteritis. Based on the patient's white blood cell depletion and CMV enteritis, we performed a human immunodeficiency virus (HIV) antibody test. The test was positive, and the diagnosis of AIDS was established. The number of patients with AIDS has been increasing in Japan; thus, we should consider the possibility of CMV enteritis and AIDS in young adult patients affected by ileocecal ulcer with no notable history.

  17. Abdominal vascular syndromes: characteristic imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D' Ippolito, Giuseppe, E-mail: leandrocleite@gmail.com [Universidade Federal de Sao Paulo (EPM/UNIFESP), Sao Paulo, SP (Brazil). Escola Paulista de Mediciana. Departmento de Diagnostico por Imagem

    2016-07-15

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

  18. Hemolytic uremic syndrome as a primary manifestation of acute human immunodeficiency virus infection.

    Science.gov (United States)

    Gomes, A M; Ventura, A; Almeida, C; Correia, M; Tavares, V; Mota, M; Seabra, J

    2009-05-01

    Hemolytic uremic syndrome may be associated with human immunodeficiency virus infection but it occurs in advanced stages of human immunodeficiency virus disease. As in other forms of hemolytic uremic syndrome plasmapheresis seems to be the treatment of choice. The authors present an unusual case of hemolytic uremic syndrome associated with acute human immunodeficiency virus infection in a 38 year-old black male. The patient was admitted with fever, asthenia, nausea, diarrhea, and reduced urinary output. He was found to have anemia, thrombocytopenia and severe renal failure. Hemolytic uremic syndrome was diagnosed and he was started on plasmapheresis and hemodialysis. Serological tests were consistent with acute human immunodeficiency virus infection: the enzyme linked immunosorbent assay for human immunodeficiency virus was weakly positive, Western Blot test was negative and human immunodeficiency virus RNA quantification was positive, with > 1,000,000 copies/microl. After 4 daily treatment sessions, patient's clinical condition improved and hemoglobin, platelets, lactic dehydrogenase and renal function normalized.

  19. Radiological findings in NAO syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Al-Otaibi, Leftan; Hugosson, Claes O. [Department of Radiology, King Faisal Specialist Hospital and Research Center, Riyadh (Saudi Arabia); Al-Mayouf, Sulalman M.; Majeed, Mahmoud; Al-Eid, Wea' am; Bahabri, Sultan [Department of Paediatrics, King Faisal Specialist Hospital and Research Center, Riyadh (Saudi Arabia)

    2002-07-01

    Background: Diseases exhibiting osteolysis in children are rare hereditary conditions. Several types have been recognised with different clinical manifestations. One type includes subcutaneous nodules, arthropathy and osteolysis and has been termed NAO syndrome. Previous radiological reports have described the affected bones, usually the carpal and tarsal regions, but a detailed analysis of the radiological findings of both the axial as well as the appendicular skeleton has not been reported. Objectives: To describe the radiological findings in a large group of children with an autosomal recessive disease characterized by nodules, familial arthropathy and osteolysis. Materials and methods: The study comprises 14 patients from 9 families and all patients had the triad of nodulosis, arthropathy and osteolysis (NAO). Results: The most common radiological manifestations were osteopenia, undertubulation of long bones, arthritic changes, sclerotic sutures of the calvaria, osteolysis and muscle contractures. Other common findings were squared vertebrae, broad medial clavicles and brachycephaly. Progress of disease was documented in more than half of the patients. Conclusions: Our study is the first report of the detailed radiological findings of NAO syndrome. In NAO syndrome, both the axial and appendicular skeleton are involved (orig.)

  20. Sweet's syndrome in association with common variable immunodeficiency.

    LENUS (Irish Health Repository)

    O'Regan, G M

    2009-03-01

    Sweet\\'s syndrome (SS), a rare reactive neutrophilic dermatosis, has been reported to occur in association with a variety of systemic disorders, categorized by von den Diesch into idiopathic, paraneoplastic, pregnancy and parainflammatory subgroups. The parainflammatory group has been well defined, and includes a wide spectrum of infectious triggers and disorders of immune dysregulation. To date, however, no cases of SS have been described in the context of common variable immunodeficiency (CVID). We report a case of paediatric-onset SS, previously reported as idiopathic, with a subsequent diagnosis of CVID.

  1. Polymorphous hemangioendothelioma in a child with acquired immunodeficiency syndrome (AIDS).

    Science.gov (United States)

    Paul, Stephan R; Hurford, Matthew T; Miettinen, Markku M; Aronoff, Stephen C; Delvecchio, Michael; Grewal, Harsh; Tuluc, Madalina

    2008-03-01

    Polymorphous hemangioendotheliomas (PH) are rare and borderline malignant tumors that are among the wide range of vascular tumors. We report here a 13-year-old male presenting with a history of weight loss, opportunistic infections, and lymphadenopathy. He was determined to be HIV positive and to have acquired immunodeficiency syndrome (AIDS). A biopsy of a femoral node was diagnostic of PH. His systemic lymphadenopathy appeared to resolve with anti-retroviral therapy. This tumor should be considered within the differential diagnoses of pediatric and immunocompromised patients.

  2. Trypanosoma cruzi meningoencephalitis in a patient with acquired immunodeficiency syndrome.

    Science.gov (United States)

    Yasukawa, Kosuke; Patel, Shital M; Flash, Charlene A; Stager, Charles E; Goodman, Jerry C; Woc-Colburn, Laila

    2014-07-01

    As a result of global migration, a significant number of people with Trypanosoma cruzi infection now live in the United States, Canada, many countries in Europe, and other non-endemic countries. Trypanosoma cruzi meningoencephalitis is a rare cause of ring-enhancing lesions in patients with acquired immunodeficiency syndrome (AIDS) that can closely mimic central nervous system (CNS) toxoplasmosis. We report a case of CNS Chagas reactivation in an AIDS patient successfully treated with benznidazole and antiretroviral therapy in the United States. © The American Society of Tropical Medicine and Hygiene.

  3. Hair alteration in black patients with the acquired immunodeficiency syndrome.

    Science.gov (United States)

    Leonidas, J R

    1987-06-01

    Four black men with the acquired immunodeficiency syndrome (AIDS) demonstrated profound alterations in hair patterns two to three years after their first symptoms appeared. The hair became longer, lighter, softer, and silky, and it was occasionally discolored. One patient was thought to be of Indian extraction. These changes may not be as apparent in nonblack persons. Possible explanations are a retrogression of hair pattern to an earlier stage of growth, a phenomenon reminiscent of, but not similar to, malnutrition trichosis, or a combination of both. Closer attention should be paid to the hair of AIDS patients. Histologic and chemical analysis may be appropriate.

  4. A mathematical model on Acquired Immunodeficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Buddhadeo Mahato

    2014-10-01

    Full Text Available A mathematical model SEIA (susceptible-exposed-infectious-AIDS infected with vertical transmission of AIDS epidemic is formulated. AIDS is one of the largest health problems, the world is currently facing. Even with anti-retroviral therapies (ART, many resource-constrained countries are unable to meet the treatment needs of their infected populations. We consider a function of number of AIDS cases in a community with an inverse relation. A stated theorem with proof and an example to illustrate it, is given to find the equilibrium points of the model. The disease-free equilibrium of the model is investigated by finding next generation matrix and basic reproduction number R0 of the model. The disease-free equilibrium of the AIDS model system is locally asymptotically stable if R0⩽1 and unstable if R0>1. Finally, numerical simulations are presented to illustrate the results.

  5. X-ray and CT findings of soft tissue and bone infections secondary to acquired immunodeficiency syndrome%艾滋病并发软组织骨骼感染的X线和CT表现

    Institute of Scientific and Technical Information of China (English)

    江松峰; 刘晋新; 陈碧华; 张烈光; 甘清鑫; 黄德扬

    2011-01-01

    Objective To summarize X-ray and CT findings of soft tissue and bone infections secondary to acquired immunodeficiency syndrome (AIDS).Methods The data of X-ray and CT findings of soft tissue and bone infections in 18 patients with AIDS were retrospectively collected and analyzed.Results Of 18 patients with AIDS,the CT features of soft tissue demonstrated that subcutaneous patchy high density in 1 case which considered as cellulitis,round low density lesions with ring enhancement in 6 cases which considered as soft tissue abscesses,heterogeneous density lesions with peripheral enhancement in 1 case which considered as pyomyositis.Of 18 patients with AIDS,septic arthritis was found in 4 cases involving knee lesion in 3 cases and hip lesion.In the 4 case,the X-ray films showed bony destruction in 2 cases and the CT showed bone destruction in 3 cases and arthroedema in 4 cases.Of 18 patients with AIDS,osteomyelitis was found in 9 cases of which tuberculosis was considered in 8 cases and vertebral involvement in 6 cases.In the 9 cases,the X-ray films and CT displayed bony destruction,hyperostosis,small sequestra,and intervertebral space narrowing.Of 18 patients with AIDS,costal lesions were found in 3 cases in which the CT showed expandable bony destruction.Of 18 patients with AIDS,ilium and cacroihac joint lesions were found in 1 case in which the X-ray films and CT showed bony destruction,sequestra,and joint widening.Of 18 patients with AIDS,chronic pyogenic osteomyelitis of femur was found in 1 case in which the X-ray films showed bony destruction,hyperostosis osteosclerosis,and periosteal reaction.Conclusion The X-ray and CT features of soft tissue and bone infections secondary to AIDS are characterized.The X-ray and CT are useful tools to early diagnose soft tissue and bone infections secondary to AIDS.%目的 探讨艾滋病(AIDS)并发软组织骨骼感染的X线和CT表现.方法 回顾性分析18例AIDS并发软组织骨骼感染的X线和CT表现.结果 18

  6. The CT findings of thoracic lymphadenopathy in patients with acquired immunodeficiency syndrome: spectrum of disease and differential diagnosis%艾滋病纵隔肺门淋巴结病变的CT诊断及鉴别诊断

    Institute of Scientific and Technical Information of China (English)

    张烈光; 刘晋新; 唐小平; 江松峰; 陈碧华; 黄德扬; 张志平; 甘清鑫; 梁艺

    2013-01-01

    Objective To evaluate the etiology and CT features of thoracic lymphadenopathy in patients with acquired immunodeficiency syndrome (AIDS).Methods CT features of thoracic lymphadenopathy in 178 AIDS patients were retrospectively analyzed.Results Of 668 AIDS patients with thoracic lymphadenopathy,174 were proved to be infections including Penicilliosis marneffei (n =117),tuberculosis (n =42),cryptococcosis (n =10) and non-tuberculous mycobacteria (n =5).Four were proved to be tumors including 3 Kaposi's sarcomas and 1 lymphoma.The enlarged mediastinal and hilar lymph node presented as homogeneous soft-tissue density in 140 patients,with central low attenuation in 29 patients,as extreme low attenuation in 9 patients on plain CT scan and showed homogeneous enhancement in 28 patients,rim enhancement in 19 patients,non enhancement in 2 patients on enhanced CT scan.Accompanied CT findings included diffuse pulmonary micro-nodules (n =45),primary complex or similar primary complex (n =13),pleural effusion (n =59),pericardial effusion (n =24),sandwich sign in the small bowel mesentery (n =31).The CT findings of penicilliosis marneffei and tuberculosis were compared with chisquare test.There were significant differences on homogeneous soft-tissue density,central low attenuation,homogeneous enhancement,rim enhancement,diffuse pulmonary micro-nodules,primary complex or similar primary complex,sandwich sign,pleural effusion (x2 =32.62,43.82,12.13,15.72,11.76,11.06,5.44,4.07,P < 0.05).Conclusions Thoracic lymphadenopathy can be caused by infections and tumors in AIDS.CT plays an important role for the differential diagnosis.%目的 研究艾滋病(AIDS)机会性感染及相关肿瘤累及纵隔肺门淋巴结的CT表现及其鉴别诊断.方法 回顾性分析668例AIDS累及纵隔肺门淋巴结患者中经病理、病原学证实的178例患者的胸部CT表现,其中49例行胸部增强扫描,119例行腹部扫描,对CT征象行x2检验.结果 178例中AIDS合并播

  7. The Basic Nature of Ethical Problems Experienced by Persons with Acquired Immunodeficiency Syndrome: Implications for Nursing Ethics Education and Practice.

    Science.gov (United States)

    Cameron, Miriam E.; And Others

    1993-01-01

    Twenty-five persons with acquired immunodeficiency syndrome (AIDS) described and validated 100 ethical problems that are experienced by people with AIDS from 3 levels of ethical inquiry: descriptive ethics, normative ethics, and metaethics. Findings suggest strategies for improving nursing ethics education. (JOW)

  8. Management of Diabetes Mellitus in Patients with Acquired Immunodeficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Miulescu Rucsandra Dănciulescu

    2014-06-01

    Full Text Available Acquired immunodeficiency syndrome (AIDS is a human immune system disease characterized by increased susceptibility to opportunistic infections, certain cancers and neurological disorders. The syndrome is caused by the human immunodeficiency virus (HIV that is transmitted through blood or blood products, sexual contact or contaminated hypodermic needles. Antiretroviral treatment reduces the mortality and the morbidity of HIV infection but is increasingly reported to be associated with increasing reports of metabolic abnormalities. The prevalence and incidence of diabetes mellitus in patients on antiretroviral therapy is high. Recently, a joint panel of American Diabetes Association (ADA and European Association for the Study of Diabetes (EASD experts updated the treatment recommendations for type 2 diabetes (T2DM in a consensus statement which provides guidance to health care providers. The ADA and EASD consensus statement concur that intervention in T2DM should be early, intensive, and uncompromisingly focused on maintaining glycemic levels as close as possible to the nondiabetic range. Intensive glucose management has been shown to reduce microvascular complications of diabetes but no significant benefits on cardiovascular diseases. Patients with diabetes have a high risk for cardiovascular disease and the treatment of diabetes should emphasize reduction of the cardiovascular factors risk. The treatment of diabetes mellitus in AIDS patients often involves polypharmacy, which increases the risk of suboptimal adherence

  9. Oral findings in Carpenter syndrome.

    Science.gov (United States)

    Blankenstein, R; Brook, A H; Smith, R N; Patrick, D; Russell, J M

    2001-09-01

    Acrocephalopolysyndactyly Type II (Carpenter Syndrome) is determined by autosomal recessive inheritance. Only some 40 cases have been described. Variable clinical signs have been described including prolonged retention of primary teeth and hypodontia. This paper describes the oral and dental findings in a family containing two affected brothers. The family pedigree is informative, as the mother has had children by three partners. The two affected individuals are full brothers. The first affected brother has delayed dental development, severe hypodontia and small tooth crown size. Mesio-distal and bucco-lingual dimensions were measured on the study models and compared with population data. The younger brother also has delayed dental development but only mild hypodontia. Their half sister has severe hypodontia but no signs of Carpenter Syndrome. This family study demonstrates two affected individuals with typical clinical features and a pedigree compatible with autosomal recessive inheritance. Small tooth crown size has been shown by standardized measurement and evidence advanced that hypodontia is not part of the syndrome but a coincidental finding which segregates independently. We have also shown that the marked delay in emergence of teeth is associated more with problems of tooth eruption, possibly related to the bony abnormalities, than to a generalized delay in dental development.

  10. Unsuspected pulmonary alveolar proteinosis in a patient with acquired immunodeficiency syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Niazi Masooma

    2011-02-01

    Full Text Available Abstract Introduction Diffuse lung infiltrates are a common finding in patients with acquired immunodeficiency syndrome and causes range from infectious processes to malignancies or interstitial lung diseases. Pulmonary alveolar proteinosis is a rare pulmonary disorder rarely reported in patients infected with human immunodeficiency virus. Secondary pulmonary alveolar proteinosis is associated with conditions involving functional impairment or reduced numbers of alveolar macrophages. It can be caused by hematologic malignancies, inhalation of toxic dust, fumes or gases, infectious or pharmacologic immunosuppression, or lysinuric protein intolerance. Case presentation A 42-year-old African American man infected with human immunodeficiency virus was admitted with chronic respiratory symptoms and diffuse pulmonary infiltrates. Chest computed tomography revealed bilateral spontaneous pneumothoraces, for which he required bilateral chest tubes. Initial laboratory investigations did not reveal any contributory conditions. Histological examination of a lung biopsy taken during video-assisted thoracoscopy showed pulmonary alveolar proteinosis concurrent with cytomegalovirus pneumonitis. After ganciclovir treatment, our patient showed radiologic and clinical improvement. Conclusion The differential diagnosis for patients with immunosuppression and lung infiltrates requires extensive investigations. As pulmonary alveolar proteinosis is rare, the diagnosis can be easily missed. Our case highlights the importance of invasive investigations and histology in the management of patients infected with human immunodeficiency virus and pulmonary disease who do not respond to empiric therapy.

  11. Skin Findings in Williams Syndrome

    Science.gov (United States)

    Kozel, Beth A.; Bayliss, Susan J.; Berk, David R.; Waxler, Jessica L; Knutsen, Russell H.; Danback, Joshua R.; Pober, Barbara R.

    2014-01-01

    Previous examination in a small number of individuals with Williams syndrome (also referred to as Williams-Beuren syndrome) has shown subtly softer skin and reduced deposition of elastin, an elastic matrix protein important in tissue recoil. No quantitative information about skin elasticity in individuals with Williams syndrome is available; nor has there been a complete report of dermatologic findings in this population. To fill this knowledge gap, 94 patients with Williams syndrome aged 7-50 years were recruited as part of the Skin and Vascular Elasticity (WS-SAVE) study. They underwent either a clinical dermatologic assessment by trained dermatologists (2010 WSA family meeting) or measurement of biomechanical properties of the skin with the DermaLab™ suction cup (2012 WSA family meeting). Clinical assessment confirmed that soft skin is common in this population (83%), as is premature graying of the hair (80% of those 20 years or older), while wrinkles (92%) and abnormal scarring (33%) were detected in larger than expected proportions. Biomechanical studies detected statistically significant differences in dP (the pressure required to lift the skin), dT (the time required to raise the skin through a prescribed gradient), VE (viscoelasticity) and E (Young’s modulus) relative to matched controls. The RT (retraction time) also trended longer but was not significant. The biomechanical differences noted in these patients did not correlate with the presence of vascular defects also attributable to elastin insufficiency (vascular stiffness, hypertension, and arterial stenosis) suggesting the presence of tissue specific modifiers that modulate the impact of elastin insufficiency in each tissue. PMID:24920525

  12. Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Funda Erol Çipe

    2014-01-01

    Full Text Available Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been identified as responsible for radiosensitive SCID. Here, we present a 3-year-old girl patient with severe growth retardation, bird-like face, recurrent perianal abscess, pancytopenia, and polydactyly. Firstly, she was thought as Fanconi anemia and spontaneous DNA breaks were seen on chromosomal analysis. After that DEB test was found to be normal and Fanconi anemia was excluded. Because of that she had low IgG and IgA levels, normal IgM level, and absence of B cells in peripheral blood; she was considered as primary immunodeficiency, Nijmegen breakage syndrome. A mutation in NBS1 gene was not found; then Cernunnos/XLF deficiency was investigated due to clinical similarities with previously reported cases. Homozygous mutation in Cernunnos/XLF gene (NHEJ1 was identified. She is now on regular IVIG prophylaxis and has no new infection. Fully matched donor screening is in progress for bone marrow transplantation which is curative treatment of the disease. In conclusion, the patients with microcephaly, bird-like face, and severe growth retardation should be evaluated for hypogammaglobulinemia and primary immunodeficiency diseases.

  13. Radionuclide brain imaging in acquired immunodeficiency syndrome (AIDS)

    Energy Technology Data Exchange (ETDEWEB)

    Costa, D.C.; Gacinovic, S.; Miller, R.F. [London University College Medical School, Middlesex Hospital, London (United Kingdom)

    1995-09-01

    Infection with the Human Immunodeficiency Virus type 1 (HIV-1) may produce a variety of central nervous system (CNS) symptoms and signs. CNS involvement in patients with the Acquired Immunodeficiency Syndrome (AIDS) includes AIDS dementia complex or HIV-1 associated cognitive/motor complex (widely known as HIV encephalopathy), progressive multifocal leucoencephalopathy (PML), opportunistic infections such as Toxoplasma gondii, TB, Cryptococcus and infiltration by non-Hodgkin`s B cell lymphoma. High resolution structural imaging investigations, either X-ray Computed Tomography (CT scan) or Magnetic Resonance Imaging (MRI) have contributed to the understanding and definition of cerebral damage caused by HIV encephalopathy. Atrophy and mainly high signal scattered white matter abnormalities are commonly seen with MRI. PML produces focal white matter high signal abnormalities due to multiple foci of demyelination. However, using structural imaging techniques there are no reliable parameters to distinguish focal lesions due to opportunistic infection (Toxoplasma gondii abscess) from neoplasm (lymphoma infiltration). It is studied the use of radionuclide brain imaging techniques in the investigation of HIV infected patients. Brain perfusion Single Photon Emission Tomography (SPET), neuroreceptor and Positron Emission Tomography (PET) studies are reviewed. Greater emphasis is put on the potential of some radiopharmaceuticals, considered to be brain tumour markers, to distinguish intracerebral lymphoma infiltration from Toxoplasma infection. SPET with {sup 201}Tl using quantification (tumour to non-tumour radioactivity ratios) appears a very promising technique to identify intracerebral lymphoma.

  14. Abdominal vascular syndromes: characteristic imaging findings*

    Science.gov (United States)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe

    2016-01-01

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital-including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)-or compressive-including "nutcracker" syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. PMID:27777480

  15. Impairment of polymorphonuclear leucocyte function in patients with acquired immunodeficiency syndrome and with lymphadenopathy syndrome.

    Science.gov (United States)

    Lazzarin, A; Uberti Foppa, C; Galli, M; Mantovani, A; Poli, G; Franzetti, F; Nóvati, R

    1986-01-01

    Granulocyte functions were studied in 20 patients with acquired immunodeficiency syndrome (AIDS), 20 subjects with lymphadenopathy syndrome (LAS) and 15 symptom-free drug addicts (SFDA). Polymorphonuclear leucocyte (PMNL) phagocytosis and killing of C. albicans appeared normal in homosexual men with AIDS, while drug addicts with AIDS or LAS and SFDA showed a significant defect of these functions as compared to healthy controls. Migration of PMNL in response to a chemoattractant was normal in SFDA, but markedly defective both in LAS and in AIDS patients. In the AIDS group no significant differences were evident between homosexual men and drug addicts. We conclude that defective PMNL phagocytosis and killing, unlike defective migration, are somehow related to drug abuse rather than to infection with the causative agent of the immunodeficiency. PMID:3791696

  16. Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome.

    NARCIS (Netherlands)

    Gennery, A.R.; Slatter, M.A.; Bredius, R.G.; Hagleitner, M.M.; Weemaes, C.M.R.; Cant, A.J.; Lankester, A.C.

    2007-01-01

    Immunodeficiency-centromeric instability-facial dysmorphism syndrome, characterized by variable immunodeficiency, centromeric instability, and facial anomalies caused by epigenetic dysregulation resulting in hypomethylation, is caused in many patients by mutations in DNMT3B, a DNA methyltransferase

  17. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

    NARCIS (Netherlands)

    Hagleitner, M.M.; Lankester, A.; Maraschio, P.; Hulten, M.; Fryns, J.P.; Schuetz, C.; Gimelli, G.; Davies, E.G.; Gennery, A.; Belohradsky, B.H.; Groot, R. de; Gerritsen, E.J.; Mattina, T.; Howard, P.J.; Fasth, A.; Reisli, I.; Furthner, D.; Slatter, M.A.; Cant, A.J.; Cazzola, G.; Dijken, P.J. van; Deuren, M. van; Greef, J.C. de; Maarel, S.M. van der; Weemaes, C.M.R.

    2008-01-01

    BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a

  18. Common variable immunodeficiency syndrome with right aortic arch: a case report

    Directory of Open Access Journals (Sweden)

    Erbay Riza

    2004-02-01

    Full Text Available Abstract Background Common variable immunodificiency syndrome predominantly affects adults. It is characterized by low production of all the major classes of immunoglobulins. We report a case of common variable immunodeficiency syndrome with right aortic arch. An association of right-sided arch and common variable immunodificiency syndrome has not been previously reported. Case presentation A 41-year-old female patient presented with a history of recurrent pneumonia, sinusitis, otitis media, diarrhoea, cystitis since childhood. Biochemical and immunocytochemical analysis revealed common variable immunodeficiency syndrome and radiological evaluation confirmed right aortic arch and aberrant left subclavian artery. Conclusion Common variable immunodeficiency syndrome syndrome is a clinical entity that should be kept in mind in patients with recurrent infections of different sites.

  19. Abacavir-induced reversible Fanconi syndrome with nephrogenic diabetes insipidus in a patient with acquired immunodeficiency syndrome

    Directory of Open Access Journals (Sweden)

    Ahmad M

    2006-01-01

    Full Text Available There are several reports of Fanconi syndrome (FS with or without nephrogenic diabetes insipidus (NDI in patients with human immunodeficiency virus (HIV infection, treated with various antiretroviral medications like cidofovir, adefovir, didenosine and tenofovir. But neither FS nor NDI has been documented with abacavir therapy. We are reporting the first case of abacavir-induced reversible FS with NDI in a patient with acquired immunodeficiency syndrome, who recovered completely with supportive treatment and discontinuation of abacavir.

  20. Cystic fibrosis, common variable immunodeficiency and Aspergers syndrome: an immunological and behavioural challenge.

    LENUS (Irish Health Repository)

    Chotirmall, S H

    2012-02-01

    INTRODUCTION: Cystic fibrosis (CF) is of particular importance in Ireland as the Irish population has both the highest incidence (2.98\\/10,000) and the highest carrier rate (1 in 19) in the world. Primary immunodeficiency has not been previously reported as co-existing with CF. CASE REPORT: We report a unique case of CF associated with a primary immunodeficiency syndrome--common variable immunodeficiency (CVID). DISCUSSION: Our patient has CF, CVID and the additional comorbidity of Aspergers syndrome. The challenges inherent in diagnosing and treating such a case are outlined herein and the successful management of this case is evidenced by the well-preserved lung function of our patient.

  1. Cystic fibrosis, common variable immunodeficiency and Aspergers syndrome: an immunological and behavioural challenge.

    LENUS (Irish Health Repository)

    Chotirmall, S H

    2009-08-07

    INTRODUCTION: Cystic fibrosis (CF) is of particular importance in Ireland as the Irish population has both the highest incidence (2.98\\/10,000) and the highest carrier rate (1 in 19) in the world. Primary immunodeficiency has not been previously reported as co-existing with CF. CASE REPORT: We report a unique case of CF associated with a primary immunodeficiency syndrome-common variable immunodeficiency (CVID). DISCUSSION: Our patient has CF, CVID and the additional comorbidity of Aspergers syndrome. The challenges inherent in diagnosing and treating such a case are outlined herein and the successful management of this case is evidenced by the well-preserved lung function of our patient.

  2. Electrophysiological findings in Rasmussen's syndrome.

    Science.gov (United States)

    Gündüz, Ayşegül; Kızıltan, Meral E; Coşkun, Tülin; Delil, Şakir; Yeni, Naz; Özkara, Çiğdem

    2016-03-01

    Rasmussen syndrome is a rare, inflammatory and probably autoimmune disease presenting with epilepsia partialis continua which is generally in the form of myoclonic jerks and involves the upper extremities with or without head involvement. We sought to demonstrate the electrophysiological features in patients with Rasmussen syndrome. We performed continuous electrophysiological recordings of involuntary movement, as well as recordings of startle responses and long latency reflex in three patients with a diagnosis of Rasmussen syndrome. Positive and negative myoclonus were recorded. Startle responses were found to be suppressed. However, long latency reflexes were high in amplitude and one patient even had a C reflex. Stimulus-sensitive positive and negative cortical myoclonus are typical in epilepsia partialis continua of Rasmussen syndrome and degeneration of brainstem and reticulospinal pathways may develop in Rasmussen syndrome.

  3. Orodental findings in Hallermann-Streiff syndrome

    Directory of Open Access Journals (Sweden)

    Shilpa Parikh

    2012-01-01

    Full Text Available Hallermann-Streiff syndrome-also called occulomandibulofacial syndrome, Francois syndrome, oculomandibulodyscephaly with hypotrichosis, Aubry syndrome I, and Ullrich-Fremery-Dohna syndrome-is a rare genetic disorder, which comprisesmultiple congenital abnormalities affecting chiefly the head and face. It is characterized by bird-like facies, dental abnormalities, hypotrichosis, atrophy of skin, congenital cataracts, bilateral microphthalmia, and proportionate nanism. An interesting case of Hallermann-Streiff syndrome in a 23-year-old female patient is reported here, with the emphasis on the orodental findings.

  4. Regulatory T cells and immunodeficiency in mycosis fungoides and Sézary syndrome

    DEFF Research Database (Denmark)

    Krejsgaard, Thorbjørn Frej; Ødum, Niels; Geisler, Carsten

    2012-01-01

    Cutaneous T-cell lymphoma (CTCL) is the term for diseases characterized by primary accumulation of malignant T cells in the skin. Patients with the two predominant clinical forms of CTCL called mycosis fungoides (MF) and Sézary syndrome (SS) characteristically develop severe immunodeficiency duri...... in MF and SS and discuss the potential mechanisms driving the immunodeficiency.Leukemia advance online publication, 9 September 2011; doi:10.1038/leu.2011.237....

  5. Progressive multifocal leukoence-phalopathy presenting as homonymous hemianopia in a patient with acquired immunodeficiency syndrome

    Directory of Open Access Journals (Sweden)

    Amit Pandey

    2012-01-01

    Full Text Available We present a case of a Human Immunodeficiency Virus (HIV positive patient who was referred for retinal evaluation to rule out ophthalmic manifestations of Acquired Immunodeficiency Syndrome (AIDS. She complained of some disturbance in vision in both eyes. Fundus examination showed no abnormality. Perimetry, done to rule out optic nerve pathology, showed a left homonymous hemianopia. Magnetic Resonance Imaging (MRI scan showed features of Progressive Multifocal Leukoencephalopathy (PML. She had no other neurological symptoms or signs.

  6. 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 ...

  7. Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia

    OpenAIRE

    Davies, E. Graham

    2013-01-01

    The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a microdeletion at chromosome 22q11 though other genetic and non-genetic causes have been described. The immunological competence of affected individuals is highly variable, ranging from normal to a severe combined immunodeficiency when there is complete ...

  8. Immunodeficiency in DiGeorge syndrome and options for treating cases with complete athymia.

    OpenAIRE

    Graham Davies, E

    2013-01-01

    The commonest association of thymic stromal deficiency resulting in T cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a microdeletion at chromosome 22q11 though other genetic and non-genetic causes have been described. The immunological competence of affected individuals is highly variable, ranging from normal to a severe combined immunodeficiency when there is complete ...

  9. Lichenoid drug reaction to isoniazid presenting as exfoliative dermatitis in a patient with acquired immunodeficiency syndrome.

    Science.gov (United States)

    Thakur, B K; Verma, S; Mishra, J

    2015-06-01

    Human immunodeficiency virus-infected patients are at increased risk of drug reactions because of immune dysregulation and multiple drug intake. Lichenoid drug reactions to isoniazid have been reported previously in the literature. However, for lichenoid drug reaction to isoniazid to be so extensive to present as exfoliative dermatitis is rare. We report here a rare case of lichenoid drug reaction to isoniazid presenting as exfoliative dermatitis in a patient with acquired immunodeficiency syndrome.

  10. Metabolic syndrome in human immunodeficiency virus positive patients

    Directory of Open Access Journals (Sweden)

    Sarita Bajaj

    2013-01-01

    Full Text Available Aims and Objectives : To assess the prevalence of metabolic syndrome (MetS in human immunodeficiency virus (HIV positive patients. Prevalence of MetS was compared in patients who were not on highly active antiretroviral therapy (HAART to patients who were on HAART. Materials and Methods: Seventy HIV positive cases were studied. Pregnant and lactating women, patients on drugs other than HAART known to cause metabolic abnormalities and those having diabetes or hypertension were excluded. Cases were evaluated for MetS by using National Cholesterol Education Program Adult Treatment Panel-III. Results: 47 cases were on HAART and 23 cases were not on HAART. Fasting Blood Glucose ≥100 mg/dl was present in 28.6% cases, out of whom 27.7% were on HAART and 30.4% were not on HAART (P = 0.8089. 12.9% cases had BP ≥130/≥85 mm Hg, out of whom 14.9% were on HAART and 8.7% were not on HAART (P = 0.4666. 42.9% cases had TG ≥150 mg/dl, out of whom 44.7% were on HAART and 39.1% were not on HAART (P = 0.6894. HDL cholesterol was low (males <40 mg/dl, females <50 mg/dl in 50% cases, out of whom 55.3% were on HAART and 39.1% were not on HAART (P = 0.2035. Conclusions: Prevalence of MetS was 20%. Majority of patients had only one component of MetS (32.9%. Low HDL was present in 50%, followed by raised triglycerides in 42.9%. Waist circumference was not increased in any of the patients. There was no statistically significant difference between those on HAART and those not on HAART in distribution of risk factors and individual components of MetS.

  11. Altered Virome and Bacterial Microbiome in Human Immunodeficiency Virus-Associated Acquired Immunodeficiency Syndrome.

    Science.gov (United States)

    Monaco, Cynthia L; Gootenberg, David B; Zhao, Guoyan; Handley, Scott A; Ghebremichael, Musie S; Lim, Efrem S; Lankowski, Alex; Baldridge, Megan T; Wilen, Craig B; Flagg, Meaghan; Norman, Jason M; Keller, Brian C; Luévano, Jesús Mario; Wang, David; Boum, Yap; Martin, Jeffrey N; Hunt, Peter W; Bangsberg, David R; Siedner, Mark J; Kwon, Douglas S; Virgin, Herbert W

    2016-03-09

    Human immunodeficiency virus (HIV) infection is associated with increased intestinal translocation of microbial products and enteropathy as well as alterations in gut bacterial communities. However, whether the enteric virome contributes to this infection and resulting immunodeficiency remains unknown. We characterized the enteric virome and bacterial microbiome in a cohort of Ugandan patients, including HIV-uninfected or HIV-infected subjects and those either treated with anti-retroviral therapy (ART) or untreated. Low peripheral CD4 T cell counts were associated with an expansion of enteric adenovirus sequences and this increase was independent of ART treatment. Additionally, the enteric bacterial microbiome of patients with lower CD4 T counts exhibited reduced phylogenetic diversity and richness with specific bacteria showing differential abundance, including increases in Enterobacteriaceae, which have been associated with inflammation. Thus, immunodeficiency in progressive HIV infection is associated with alterations in the enteric virome and bacterial microbiome, which may contribute to AIDS-associated enteropathy and disease progression.

  12. Poland's syndrome: radiologic findings

    Energy Technology Data Exchange (ETDEWEB)

    Bazzi Junior, Joao Lourenco, E-mail: joaobazzijr@gmail.com [Clinica Via Imagem, Xanxere, SC (Brazil); Matta, Eduardo Simoes da [Pro Circulacao - Clinica de Angiologia, Cirurgia Vascular e Ecografia Vascular, Xanxere, SC (Brazil); De Bortoli, Luciano [Materclinica Materno Infantil, Xanxere, SC (Brazil); De Bortoli, Felipe Raasch [Universidade Catolica de Pelotas (UCPel), Pelotas, RS (Brazil). Fac. of Medicine

    2012-05-15

    Poland's syndrome is a rare non-inherited congenital anomaly. The authors describe the classic radiologic findings of Poland's syndrome by reporting the case of a male four-year old patient with asymmetry of hands and chest, illustrating the fundamental imaging criteria for a conclusive diagnosis. (author)

  13. Kaposi sarcoma and lymphadenopathy syndrome: limitations of abdominal CT in acquired immunodeficiency syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Moon, K.L. Jr.; Federle, M.P.; Abrams, D.I.; Volberding, P.; Lewis, B.J.

    1984-02-01

    Abdominal computed tomography (CT) was performed in 31 patients with Kaposi sarcoma (KS) related to acquired immunodeficiency syndrome (AIDS), three patients with classic KS, and 12 patients with the newly described lymphadenopathy syndrome (LNS). The frequency, distribution, and appearance of lymphadenopathy and splenomegaly were similar in the AIDS-related KS and LNS groups. Rectal and perirectal disease was identified in 86% of homosexual men studied; rectal KS could not be distinguished from proctitis on CT criteria alone. No CT abnormalities were seen in patients with classic KS. The CT demonstration of retroperitoneal, mesenteric, or pelvic adenopathy or of rectal or perirectal disease in patients with AIDS-related KS is not necessarily indicative of widespread involvement with the disease.

  14. Progressive multifocal leukoencephalopathy in a patient with acquired immunodeficiency syndrome (AIDS) manifesting Gerstmann's syndrome.

    Science.gov (United States)

    Saito, H; Sakai, H; Fujihara, K; Fujihara, K; Itoyama, Y

    1998-11-01

    We reported a case of acquired immunodeficiency syndrome (AIDS) via multiple blood transfusions, who manifested progressive multifocal leukoencephalopathy (PML) about 18 months after the development of AIDS. PML initiated with right hemiparesis, dysphasia, and Gerstmann's syndrome and resulted in death within 2 months after the onset. Neuroimaging examinations revealed white matter lesions mainly in the left posterior parietal lobe. The cortical gray matter also showed abnormal signal intensity. Peripheral CD4+ lymphocyte count was 81/microl. Routine cerebrospinal fluid (CSF) examinations were negative. CSF antibodies against herpes simplex virus, varicella-zoster virus, cytomegalovirus, Epstein-Barr virus as well as serum antibody against toxoplasma gondii were negative. Though autopsy or biopsy of the brain was not performed, JC virus genomes were detected in the CSF sample by a polymerase chain reaction, and their sequencing showed unique alterations of the regulatory regions, characteristic to PML-type JC virus.

  15. Disseminated cutaneous histoplasmosis in acquired immunodeficiency syndrome: report of 23 cases.

    Science.gov (United States)

    Bonifaz, A; Chang, P; Moreno, K; Fernández-Fernández, V; Montes de Oca, G; Araiza, J; Ponce, R M

    2009-06-01

    Disseminated cutaneous histoplasmosis is an opportunistic infection in patients with acquired immunodeficiency syndrome. We report a series of 23 cases (21 men, two women; median age 29 years) with disseminated cutaneous histoplasmosis seen at two hospital centres. Most of the patients (21/23) were classified as stage C3. The most common dermatological findings were papules, crusting plaques, nodules and ulcers, mainly located on the face and chest. Of the 23 cases, 15 (65%) had pulmonary involvement. Amphotericin B and itraconazole were the main drugs used for treatment. Treatment response was variable: four of the patients were cured, six improved and remain stable, nine patients died, and four patients were lost to follow-up.

  16. The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.

    Science.gov (United States)

    Bode, Sebastian Fn; Ammann, Sandra; Al-Herz, Waleed; Bataneant, Mihaela; Dvorak, Christopher C; Gehring, Stephan; Gennery, Andrew; Gilmour, Kimberly C; Gonzalez-Granado, Luis I; Groß-Wieltsch, Ute; Ifversen, Marianne; Lingman-Framme, Jenny; Matthes-Martin, Susanne; Mesters, Rolf; Meyts, Isabelle; van Montfrans, Joris M; Pachlopnik Schmid, Jana; Pai, Sung-Yun; Soler-Palacin, Pere; Schuermann, Uta; Schuster, Volker; Seidel, Markus G; Speckmann, Carsten; Stepensky, Polina; Sykora, Karl-Walter; Tesi, Bianca; Vraetz, Thomas; Waruiru, Catherine; Bryceson, Yenan T; Moshous, Despina; Lehmberg, Kai; Jordan, Michael B; Ehl, Stephan

    2015-07-01

    Hemophagocytic lymphohistiocytosis is a hyperinflammatory syndrome defined by clinical and laboratory criteria. Current criteria were created to identify patients with familial hemophagocytic lmyphohistiocytosis in immediate need of immunosuppressive therapy. However, these criteria also identify patients with infection-associated hemophagocytic inflammatory states lacking genetic defects typically predisposing to hemophagocytic lymphohistiocytosis. These patients include those with primary immunodeficiencies, in whom the pathogenesis of the inflammatory syndrome may be distinctive and aggressive immunosuppression is contraindicated. To better characterize hemophagocytic inflammation associated with immunodeficiencies, we combined an international survey with a literature search and identified 63 patients with primary immunodeficiencies other than cytotoxicity defects or X-linked lymphoproliferative disorders, presenting with conditions fulfilling current criteria for hemophagocytic lymphohistiocytosis. Twelve patients had severe combined immunodeficiency with immunodeficiencies; (ii) this syndrome can develop despite severe deficiency of T and NK cells, implying that the pathophysiology is distinct and not appropriately described as "lympho"-histiocytosis in these patients; and (iii) current criteria for hemophagocytoc lymphohistiocytosis are insufficient to differentiate hemophagocytic inflammatory syndromes with different pathogeneses. This is important because of implications for therapy, in particular for protocols targeting T cells.

  17. Griscelli Syndrome Type 2; A Pediatric Case with Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Parviz Tabatabaie

    2007-09-01

    Full Text Available A 3.5 month-old girl was admitted with silvery gray hair, light  colored skin, recurrent diarrhea, chest infections, hepatosplenomegaly, episodes of pancytopenia, and hemophagocytosis in the bone marrow. Light microscopy of hair showed characteristic large and irregular clumps of melanin in the middle of hair shaft. Peripheral blood smear examination did not show giant granules in granulocytes. On the basis of these clinical and laboratory findings, Griscelli syndrome was diagnosed. The child succumbed to infection during an accelerated phase of the disease.

  18. Immunodeficiency in DiGeorge syndrome and options for treating cases with complete athymia.

    Directory of Open Access Journals (Sweden)

    E Graham Davies

    2013-10-01

    Full Text Available The commonest association of thymic stromal deficiency resulting in T cell immunodeficiency is the DiGeorge syndrome (DGS. This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a microdeletion at chromosome 22q11 though other genetic and non-genetic causes have been described. The immunological competence of affected individuals is highly variable, ranging from normal to a severe combined immunodeficiency when there is complete athymia. In the most severe group, correction of the immunodeficiency can be achieved using thymus allografting which can enable thymopoeisis in the absence of donor-recipient matching at the major histocompatibility loci. This review focusses on the causes of DGS, the immunological features of the disorder and the approaches to correction of the immunodeficiency including the use of thymus transplantation.

  19. Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome

    Science.gov (United States)

    Brun, Marie-Elisabeth; Lana, Erica; Rivals, Isabelle; Lefranc, Gérard; Sarda, Pierre; Claustres, Mireille; Mégarbané, André; De Sario, Albertina

    2011-01-01

    Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) syndrome is a rare autosomal recessive disorder that is characterized by a marked immunodeficiency, severe hypomethylation of the classical satellites 2 and 3 associated with disruption of constitutive heterochromatin, and facial anomalies. Sixty percent of ICF patients have mutations in the DNMT3B (DNA methyltransferase 3B) gene, encoding a de novo DNA methyltransferase. In the present study, we have shown that, in ICF lymphoblasts and peripheral blood, juxtacentromeric heterochromatic genes undergo dramatic changes in DNA methylation, indicating that they are bona fide targets of the DNMT3B protein. DNA methylation in heterochromatic genes dropped from about 80% in normal cells to approximately 30% in ICF cells. Hypomethylation was observed in five ICF patients and was associated with activation of these silent genes. Although DNA hypomethylation occurred in all the analyzed heterochromatic genes and in all the ICF patients, gene expression was restricted to some genes, every patient having his own group of activated genes. Histone modifications were preserved in ICF patients. Heterochromatic genes were associated with histone modifications that are typical of inactive chromatin: they had low acetylation on H3 and H4 histones and were slightly enriched in H3K9Me3, both in ICF and controls. This was also the case for those heterochromatic genes that escaped silencing. This finding suggests that gene activation was not generalized to all the cells, but rather was restricted to a clonal cell population that may contribute to the phenotypic variability observed in ICF syndrome. A slight increase in H3K27 monomethylation was observed both in heterochromatin and active euchromatin in ICF patients; however, no correlation between this modification and activation of heterochromatic genes was found. PMID:21559330

  20. Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF syndrome.

    Directory of Open Access Journals (Sweden)

    Marie-Elisabeth Brun

    Full Text Available Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF syndrome is a rare autosomal recessive disorder that is characterized by a marked immunodeficiency, severe hypomethylation of the classical satellites 2 and 3 associated with disruption of constitutive heterochromatin, and facial anomalies. Sixty percent of ICF patients have mutations in the DNMT3B (DNA methyltransferase 3B gene, encoding a de novo DNA methyltransferase. In the present study, we have shown that, in ICF lymphoblasts and peripheral blood, juxtacentromeric heterochromatic genes undergo dramatic changes in DNA methylation, indicating that they are bona fide targets of the DNMT3B protein. DNA methylation in heterochromatic genes dropped from about 80% in normal cells to approximately 30% in ICF cells. Hypomethylation was observed in five ICF patients and was associated with activation of these silent genes. Although DNA hypomethylation occurred in all the analyzed heterochromatic genes and in all the ICF patients, gene expression was restricted to some genes, every patient having his own group of activated genes. Histone modifications were preserved in ICF patients. Heterochromatic genes were associated with histone modifications that are typical of inactive chromatin: they had low acetylation on H3 and H4 histones and were slightly enriched in H3K9Me(3, both in ICF and controls. This was also the case for those heterochromatic genes that escaped silencing. This finding suggests that gene activation was not generalized to all the cells, but rather was restricted to a clonal cell population that may contribute to the phenotypic variability observed in ICF syndrome. A slight increase in H3K27 monomethylation was observed both in heterochromatin and active euchromatin in ICF patients; however, no correlation between this modification and activation of heterochromatic genes was found.

  1. ABNORMAL FINDINGS IN HAEMOGRAMS OF DACHSHUND PUPPIES: PRESUMPTIVE (IMMUNODEFICIENCY FAMILIAL DISEASE

    Directory of Open Access Journals (Sweden)

    Vanessa Turinelli

    2012-01-01

    Full Text Available In a litter of seven Dachshund puppies, one subject was stillborn and six presented with diffuse skin infections characterized by dermatitis, abscessation, pustules, crusts and ulcers. Two of the puppies were referred for further evaluation. One male puppy was referred at four months of age and a sister litter mate was referred two months later. A complete blood count, biochemical and histological examination were performed on these puppies to identify the pathologic process. Clinical, biochemical, haematological and histological evaluation of subjects. This report characterizes quantitative and qualitative haematological abnormalities in two puppies that resulted in a diagnosis of dysmyelopoiesis. The existence of a familial immunodeficiency syndrome was speculated. This is the first report of such a syndrome in Dachshund puppies.

  2. Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    M. M. G. Vollebregt

    2015-01-01

    Full Text Available Rapadilino syndrome is a genetic disease characterized by a characteristic clinical tableau. It is caused by mutations in RECQL4 gene. Immunodeficiency is not described as a classical feature of the disease. We present a 2-year-old girl with Rapadilino syndrome with important lymphadenopathies and pneumonia due to disseminated Mycobacterium lentiflavum infection. An immunological work-up showed several unexpected abnormalities. Repeated blood samples showed severe lymphopenia. Immunophenotyping showed low T, B, and NK cells. No Treg cells were seen. T cell responses to stimulations were insufficient. The IL12/IL23 interferon gamma pathway was normal. Gamma globulin levels and vaccination responses were low. With this report, we aim to stress the importance of screening immunodeficiency in patients with RECQL4 mutations for immunodeficiency and the need to further research into its physiopathology.

  3. MRI findings of Guillain-Barre syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Park, Won Kyu; Lee, Hwa Jin; Byun, Woo Mok [Yeungnam Univ. College of Medicine, Taegu (Korea, Republic of)

    1997-04-01

    To evaluate MRI findings of Guillain-Barre syndrome. In six patients with Guillain-Barre syndrome diagnosed by clinical, cerebrospinal fluid and electrophysiologic findings, a retrospective review of MR findings was conducted. Follow-up MRI scans were carried out in two patients showing minimal clinical improvement. Marked or moderate enhancement of thickened nerve roots was seen in all cases on gadopentetate dimeglumine enhanced axial T1-weighted images. Two patterns were seen; one was even enhancement of both anterior and posterior nerve roots (n=1) and the other was enhancement of anterior nerve roots only (n=5). Enhancement and thickness of nerve roots was seen to have slightly decreased on MRI follow-up at 32 and 50 days; clinical and electrophysiologic examination showed minimal improvement. Although MRI findings of nerve root enhancement are nonspecific and can be seen in neoplastic and other inflammatory diseases, the enhancement of thickened anterior nerve roots within the cal sac suggests Guillain-Barre syndrome.

  4. [Hemophagocytic syndrome associated with tuberculosis in a patient with acquired immunodeficiency].

    Science.gov (United States)

    González, Norma E; Álvarez Ponte, Silvia; López, Mariela; Fronti, Pablo; Smith, Silvina; Pawluk, Victor

    2016-10-01

    The secondary hemophagocytic syndrome is rare in children and even rarer associated with tuberculosis. e report the case of a patient with acquired immunodeficiency syndrome, disseminated tuberculosis and hemophagocytic syndrome. An 8-year-old girl, diagnosed with acquired immunodeficiency syndrome, was admitted due to fever, vomiting and abdominal pain. She presented abdominal distension, dehydration, tachypnea, crackles and wheezing in both lungs, anemia, thrombocytopenia and coagulopathy. She received broad-spectrum antibiotics and exploratory laparotomy was performed with appendectomy and lymph node biopsy. After 72 hours the patient presented tonic clonic seizure, impaired sensory, fever, hypoxemia, hepatosplenomegaly, ascites and peripheral edema. She developed bicytopenia, hyperferritinemia and bone marrow microscopic examination with hemophagocytosis. She received intravenous gammaglobulin, steroids and blood transfusions. Mycobacterium tuberculosis was cultured in gastric aspirate, bone marrow and abdominal lymph node biopsy. She was treated with isoniazid, rifampicin, streptomycin and ethambutol, showing marked improvement.

  5. Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

    Science.gov (United States)

    Stellacci, Emilia; Onesimo, Roberta; Bruselles, Alessandro; Pizzi, Simone; Battaglia, Domenica; Leoni, Chiara; Zampino, Giuseppe; Tartaglia, Marco

    2016-09-01

    Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and facial dysmorphism. Since the original reports by Wiedemann and co-workers, and Steiner and Marques, only a few cases have been described. Recently, the clinical variability of the disorder has more precisely been characterized by Jones and co-workers, who also identified heterozygous KMT2A mutations as the molecular defect underlying this condition. Here, we report on a boy with a complex phenotype overlapping WSS but exhibiting epilepsy, feeding difficulties, microcephaly, and congenital immunodeficiency with low levels of immunoglobulins as additional features. Whole exome sequencing allowed identifying a previously unreported de novo KMT2A missense mutation affecting the DNA binding domain of the methyltransferase. This finding expands the clinical phenotype associated with KMT2A mutations to include immunodeficiency and epilepsy as clinically relevant features for this disorder. © 2016 Wiley Periodicals, Inc.

  6. Fear of acquired immunodeficiency syndrome and fear of other illness in suicide

    DEFF Research Database (Denmark)

    Aro, A R; Jallinoja, P T; Henriksson, M M

    1994-01-01

    Suicide victims with fear of acquired immunodeficiency syndrome (AIDS) or other somatic illness were compared for psychosocial and health-related characteristics, triggers and content of fear. Fear of AIDS cases (n = 28), 2% of the 1-year Finnish suicide population (n = 1397), were younger and fe...

  7. Disseminated Penicillium marneffei infection in acquired immunodeficiency syndrome: a case report

    Institute of Scientific and Technical Information of China (English)

    ZHAO Da-wei; ZHANG Tong; MA Da-qing; WANG Wei; YUAN Chun-wang; DUAN Yong

    2005-01-01

    @@ Penicillium marneffei (P. marneffei) is a facultative intracellular pathogen and the only thermally dimorphic fungus. This fungal infection is commonly found in Southeast Asian, Hong Kong, south China, and especially in acquired immunodeficiency syndrome (AIDS) patients.1-4 We reported a patient with AIDS in whom infection due to P. marneffei was demonstrated.

  8. Toxoplasmosis of Spinal Cord in Acquired Immunodeficiency Syndrome Patient Presenting as Paraparesis: A Rare Entity

    OpenAIRE

    2014-01-01

    Although brain has been the most common site for toxoplasma infection in acquired immunodeficiency syndrome patients, involvement of spinal cord by toxoplasma has been rarely found. Spinal cord toxoplasmosis can present as acute onset weakness in both lower limbs associated with sensory and bladder dysfunction. A presumptive diagnosis can be made in patients with CD4 count

  9. Low-dose growth hormone and human immunodeficiency virus-associated lipodystrophy syndrome: a pilot study

    DEFF Research Database (Denmark)

    Andersen, O; Haugaard, S B; Flyvbjerg, A

    2004-01-01

    BACKGROUND: Treatment with high doses (2-6 mg day(-1)) of human growth hormone (hGH) in patients with human immunodeficiency virus (HIV)-associated lipodystrophy syndrome (HALS) has been shown to increase concentrations of total insulin-like growth-factor-I (IGF-I) more than twofold greater than ...

  10. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

    NARCIS (Netherlands)

    Greef, J.C. de; Wang, J.; Balog, J.; Dunnen, J.T. den; Frants, R.R.; Straasheijm, K.R.; Aytekin, C.; Burg, M. van der; Duprez, L.; Ferster, A.; Gennery, A.R.; Gimelli, G.; Reisli, I.; Schuetz, C.; Schulz, A.; Smeets, D.F.C.M.; Sznajer, Y.; Wijmenga, C.; Eggermond, M.C. van; Ostaijen-ten Dam, M.M. van; Lankester, A.C.; Tol, M.J. van; Elsen, P.J. van den; Weemaes, C.M.R.; Maarel, S.M. van der

    2011-01-01

    Autosomal-recessive immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is mainly characterized by recurrent, often fatal, respiratory and gastrointestinal infections. About 50% of patients carry mutations in the DNA methyltransferase 3B gene (DNMT3B) (ICF1). The remaining

  11. Abdominal US Findings of Disseminated Penicilliosis Marneffei in Patients with Acquired Immunodeficiency Syndrome%艾滋病合并播散性马尔尼菲青霉菌病腹部超声表现分析

    Institute of Scientific and Technical Information of China (English)

    吴碧君; 汤庆; 周爱群; 梁惠颖

    2011-01-01

    目的 探讨艾滋病(AIDS)合并播散性马尔尼菲青霉菌病(PSM)的腹部超声表现.方法 回顾性分析141例AIDS合并播散性PSM的腹部超声图像特征.结果 141例AIDS合并播散性PSM腹部超声表现为腹部淋巴结肿大98例(69.50%);肝脾肿大96例(68.08%);肝脾内局灶性、弥漫性病变共15例(10.63%),其中肝脾内弥漫性病变3例,图像非常有特征性,呈"云雾状";胰腺炎4例(2.83%);腹水12例(8.51%).结论 AIDS合并播散性PSM时,腹部常多脏器受累,腹膜后及肠系膜淋巴结肿大、肝脾肿大、肝脾实质病变是最常见的腹部超声表现.%Objective To investigate abdominal US findings of Disseminated Penicilliosis Mameffei in patients with AIDS.Methods Abdominal US imaging of Disseminated Penicilliosis Marneffei in 141 patients with AIDS were retrospectively analyzed.Results Enlargement of abdominal lymph nodes were observed in 98 (69.50 % )cases.Hepatosplenomegaly was observed in 96 (68.08 % )cases.Focal or diffuse lesions in the liver and spleen were observed in 15 ( 10.63 % )cases.3 case of diffuse lesions in the liver and spleen whose image was very specific "cloudy".Pancreatitis was observed in 4 cases(2.83%).Ascites was observed in 12 case(8.51%).Conclusions Disseminated Penicilliosis Mameffei in patients with AIDS usually were involved multiple organs in abdomem.Enlargement of abdominal lymph nodes, hepatosplenomegaly,parenehymal lesions in the liver and spleen are the most common US findings in abdomem.

  12. Osmotic demyelination syndrome with a dysequilibrium syndrome: reversible MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Agildere, A.M.; Coskun, M.; Boyvat, F. [Baskent University Medical School Hospital, Radiology Department, Ankara (Turkey); Benli, S. [Baskent University Medical School Hospital, Neurology Department, Ankara (Turkey); Erten, Y.; Oezdemir, N. [Baskent University Medical School Hospital, Nephrology Department, Ankara (Turkey)

    1998-04-01

    Neurological disorders may be seen in end-stage renal disease patients due to uraemia or to complications of dialysis. A dysequilibrium syndrome may be seen, usually soon after or towards the end of haemodialysis. This group of patients has no particular findings on MRI. On the other hand, the osmotic demyelination syndrome has definitive MRI findings, not to date reported with the dysequilibrium syndrome. We report a patient with end-stage renal disease and the dysequilibrium syndrome who showed findings of osmotic demyelination on MRI. The patient had a convulsion after a first haemodialysis, with quadriparesis and hyperactive deep tendon reflexes and bilateral Babinski signs. The upper motor neurone signs lasted for a week. Meanwhile, he was also dysarthric and had dysphagia. He recovered neurologically without any residuum following appropriate treatment and there was improvement on MRI. (orig.) With 3 figs., 11 refs.

  13. Consensus on context-specific strategies for reducing the stigma of human immunodeficiency virus/acquired immunodeficiency syndrome in Zambézia Province, Mozambique.

    Science.gov (United States)

    Mukolo, Abraham; Torres, Isabel; Bechtel, Ruth M; Sidat, Mohsin; Vergara, Alfredo E

    2013-01-01

    Stigma has been implicated in poor outcomes of human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) care. Reducing stigma is important for HIV prevention and long-term treatment success. Although stigma reduction interventions are conducted in Mozambique, little is known about the current nature of stigma and the efficacy and effectiveness of stigma reduction initiatives. We describe action research to generate consensus on critical characteristics of HIV stigma and anti-stigma interventions in Zambézia Province, Mozambique. Qualitative data gathering methods, including in-depth key-informant interviews, community interviews and consensus group sessions, were utilized. Delphi methods and the strategic options development analysis technique were used to synthesize qualitative data. Key findings are that stigma enacted by the general public might be declining in tandem with the HIV/AIDS epidemic in Mozambique, but there is likely excessive residual fear of HIV disease and community attitudes that sustain high levels of perceived stigma. HIV-positive women accessing maternal and child health services appear to shoulder a disproportionate burden of stigma. Unintentional biases among healthcare providers are currently the critical frontier of stigmatization, but there are few interventions designed to address them. Culturally sensitive psychotherapies are needed to address psychological distress associated with internalized stigma and these interventions should complement current supports for voluntary counseling and testing. While advantageous for defining stakeholder priorities for stigma reduction efforts, confirmatory quantitative studies of these consensus positions are needed before the launch of specific interventions.

  14. Presentation and outcome amongst older Singaporeans living with human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS): does age alone drive excess mortality?

    Science.gov (United States)

    Huggan, Paul J; Foo, Rui Min; Olszyna, Dariusz; Chew, Nicholas S; Smitasen, Nares; Mukhopadhyay, Amartya; Archuleta, Sophia

    2012-12-01

    There is little detailed information on human immunodeficiency virus (HIV) amongst older adults in Singapore. A retrospective study of 121 consecutive referrals of patients presenting for HIV care was conducted. Demographic, clinical and laboratory variables were collected. A prognostic model derived from the North American Veterans' Affairs Cohort Study (VACS) was used to estimate prognosis. The median age at presentation was 43 (range, 18 to 76). Thirty-eight patients (31%) were aged 50 or older and 106 patients (88%) were male. Older patients were more likely to be of Chinese ethnicity (P = 0.035), married (P = 0.0001), unemployed or retired (P = 0.0001), and to have acquired their infection heterosexually (P = 0.0002). The majority of patients in both groups were symptomatic at presentation. Eighty-one (67%) had CD4 counts less than 200 at baseline with no observable differences in HIV ribonucleic acid (RNA) or clinical stage based on age. Non-Acquired Immunodeficiency Syndrome (AIDS) morbidity was observed more frequently amongst older patients. The estimated prognosis of patients differed significantly based on age. Using the VACS Index and comparing younger patients with those aged 50 and above, mean 5 year mortality estimates were 25% and 50% respectively (P HIV/AIDS cases and present with more non-AIDS morbidity. This confers a poor prognosis despite comparable findings with younger patients in terms of clinical stage, AIDS-defining illness, CD4 count and HIV viral load.

  15. Consensus on context-specific strategies for reducing the stigma of human immunodeficiency virus/acquired immunodeficiency syndrome in Zambézia Province, Mozambique

    Science.gov (United States)

    Mukolo, Abraham; Torres, Isabel; Bechtel, Ruth M.; Sidat, Mohsin; Vergara, Alfredo E.

    2014-01-01

    Stigma has been implicated in poor outcomes of human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) care. Reducing stigma is important for HIV prevention and long-term treatment success. Although stigma reduction interventions are conducted in Mozambique, little is known about the current nature of stigma and the efficacy and effectiveness of stigma reduction initiatives. We describe action research to generate consensus on critical characteristics of HIV stigma and anti-stigma interventions in Zambézia Province, Mozambique. Qualitative data gathering methods, including indepth key-informant interviews, community interviews and consensus group sessions, were utilized. Delphi methods and the strategic options development analysis technique were used to synthesize qualitative data. Key findings are that stigma enacted by the general public might be declining in tandem with the HIV/AIDS epidemic in Mozambique, but there is likely excessive residual fear of HIV disease and community attitudes that sustain high levels of perceived stigma. HIV-positive women accessing maternal and child health services appear to shoulder a disproportionate burden of stigma. Unintentional biases among healthcare providers are currently the critical frontier of stigmatization, but there are few interventions designed to address them. Culturally sensitive psychotherapies are needed to address psychological distress associated with internalized stigma and these interventions should complement current supports for voluntary counseling and testing. While advantageous for defining stakeholder priorities for stigma reduction efforts, confirmatory quantitative studies of these consensus positions are needed before the launch of specific interventions. PMID:24527744

  16. Immunocompromised host: from the early events until the impact of acquired immunodeficiency syndrome

    Directory of Open Access Journals (Sweden)

    Costa Sylvio Celso Gonçalves da

    2000-01-01

    Full Text Available The concept that microorganisms can modulate the host resistance was historically reviewed in the present article. The importance of African trypanosomiasis in the development of the research on immunosuppression as well as the impact of human immunodeficiency virus infection are discussed. Each day new opportunistic organisms establish a constant challenge for the correct diagnosis of concomitant infections in acquired immunodeficiency syndrome. The importance of parasite infection in the balance of host resistance in the third world was emphasized. Finally, some aspects of Leishmania as opportunistic organisms were presented.

  17. A Web-Based System To Enchance The Management Of Acquired Immunodeficiency Syndrome (AIDS/ Human Immunodeficiency Virus (HIV In Nigeria

    Directory of Open Access Journals (Sweden)

    Agbelusi Olutola

    2012-06-01

    Full Text Available Acquired Immunodeficiency Syndrome (AIDS, a global disease, caused by the Human Immunodeficiency Virus (HIV is arguably the greatest health problem of this age and there is need to make first class information on the management of HIV/AIDS available through the use of Web-Based Technology. This paper examined the various ways of contacting HIV and the effort made by Information and Technology to make life easier for people living with the virus in Nigeria. Questionnaires were distributed to Doctors and people living with HIV/AIDS to access their knowledge and belief about the said disease. MySQL was used to generate the database, to store all the vital information about the patients, their Doctors and their complaints. PHP programming for the implementation of the interfaces, Dreamweaver HTML for the design of the web-based application, T-test and Microsoft Excel were used for the analysis of data collected. The study looked into the occupation, age range and the marital status of different categories of people living with the virus. It was discovered that there were quite large numbers of people who are living with the virus.

  18. Reiter's Syndrome associated with the Acquired Immunodeficiency Syndrome: a case report

    Directory of Open Access Journals (Sweden)

    J.B.N.S. Malta

    2002-02-01

    Full Text Available The association of Reiter's Syndrome (RS with the Acquired Immunodeficiency Syndrome (AIDS is seldom mentioned in the medical literature. This report illustrates this relationship in a 46 years old male patient suffering from AIDS (CD4+ = 240 cells/mm³, CD8+ = 1,301 cells/mm³ and viral load = 330,000 copies/ml, pulmonary tuberculosis (positive catarrhal bacilluscopy, and RS. The diagnosis of RS was based on the combination of dermatological and articular alterations. The patient's cutaneous lesions were characterized by exfoliation and the formation of crusts located on the face, scalp, genitals, hands, and feet; onychodystrophy with opacity; yellowish coloring; and hyperkeratosis of the nails. Articular lesions led to progressive deformity of phalangeal joints of the hands, and intensive arthralgia, mainly of the larger joints (shoulders, elbows, hips and knees. AIDS treatment was administered with anti-retroviral drugs (zidovudine and didanosine; for tuberculosis (isoniazid, rifampicine, and pyrazinamide; and (prednisone and inometacine for the RS. The patient recovered with the improvement of articular symptoms; however, on the eighth day of treatment, the patient showed significant hemoptysis and hypovolemic shock, and died. The association of RS and HIV infection is reviewed.

  19. Reiter's Syndrome associated with the Acquired Immunodeficiency Syndrome: a case report

    Directory of Open Access Journals (Sweden)

    J.B.N.S. Malta

    Full Text Available The association of Reiter's Syndrome (RS with the Acquired Immunodeficiency Syndrome (AIDS is seldom mentioned in the medical literature. This report illustrates this relationship in a 46 years old male patient suffering from AIDS (CD4+ = 240 cells/mm³, CD8+ = 1,301 cells/mm³ and viral load = 330,000 copies/ml, pulmonary tuberculosis (positive catarrhal bacilluscopy, and RS. The diagnosis of RS was based on the combination of dermatological and articular alterations. The patient's cutaneous lesions were characterized by exfoliation and the formation of crusts located on the face, scalp, genitals, hands, and feet; onychodystrophy with opacity; yellowish coloring; and hyperkeratosis of the nails. Articular lesions led to progressive deformity of phalangeal joints of the hands, and intensive arthralgia, mainly of the larger joints (shoulders, elbows, hips and knees. AIDS treatment was administered with anti-retroviral drugs (zidovudine and didanosine; for tuberculosis (isoniazid, rifampicine, and pyrazinamide; and (prednisone and inometacine for the RS. The patient recovered with the improvement of articular symptoms; however, on the eighth day of treatment, the patient showed significant hemoptysis and hypovolemic shock, and died. The association of RS and HIV infection is reviewed.

  20. Bouveret's syndrome: CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Tueney, D.; Cimsit, C. [Dept. of Radiology, Marmara University Hospital, Istanbul (Turkey)

    2000-11-01

    Intestinal obstruction secondary to gallstones is seen in the older population and the level of obstruction is usually at the level of the terminal ileum. Obstruction at the level of the gastric outlet is called Bouveret's syndrome. A case with perforated cholecystitis and duodenal obstruction due to a gallstone is presented. The CT findings are presented along with the clinical findings and literature review. (orig.)

  1. Vertebral involvement in SAPHO syndrome: MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Nachtigal, A.; Cardinal, E.; Bureau, N.J. [Dept. of Radiology, Univ. de Montreal, QC (Canada); Sainte-Marie, L.G. [Dept. of Internal Medicine, Univ. de Montreal, QC (Canada); Milette, F. [Department of Pathology, Univ. de Montreal, QC (Canada)

    1999-03-01

    We report on the MRI findings in the vertebrae and surrounding soft tissues in two patients with the SAPHO syndrome (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis). The MRI findings include abnormal bone marrow signal, either focal or diffuse, of the vertebral bodies and posterior elements; hyperintense paravertebral soft tissue swelling and abnormal signal of the intervertebral discs. These changes are consistent with discitis and osteitis. (orig.) With 6 figs., 17 refs.

  2. Sarcoma de Kaposi relacionado à síndrome da imunodeficiência adquirida: características do comprometimento hepático na tomografia computadorizada e na ressonância magnética Kaposi sarcoma related to acquired immunodeficiency syndrome: hepatic findings on computed tomography and magnetic resonance imaging

    Directory of Open Access Journals (Sweden)

    Daniel Nobrega da Costa

    2008-04-01

    Full Text Available Sarcoma de Kaposi é uma neoplasia associada a condições de imunossupressão que acomete os vasos linfáticos e sanguíneos. É a neoplasia intra-hepática mais comum na síndrome da imunodeficiência adquirida. A tomografia computadorizada e a ressonância magnética revelam múltiplos pequenos nódulos, proeminência e realce dos planos periportais, devido à presença de tecido neoplásico. Os autores descrevem um caso de paciente masculino, de 47 anos de idade, com síndrome da imunodeficiência adquirida e sarcoma de Kaposi disseminado.Kaposi sarcoma is a neoplasm associated with immunosuppressive conditions, and involving blood and lymphatic vessels. It is the most frequent intrahepatic neoplasm in patients with acquired immunodeficiency syndrome. Computed tomography and magnetic resonance imaging demonstrate multiple small nodules, prominence and contrast-enhancement of periportal branches due to the presence of the neoplastic tissue. The authors report a case of a 47-year-old male patient with acquired immunodeficiency syndrome presenting disseminated Kaposi sarcoma.

  3. Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities

    OpenAIRE

    Hassan Hashemi; Masoumeh Mohebbi; Shiva Mehravaran; Mehdi Mazloumi; Hamidreza Jahanbani-Ardakani; Seyed-Hossein Abtahi

    2017-01-01

    The hyperimmunoglobulin E syndromes (HIESs) are very rare immunodeficiency syndromes with multisystem involvement, including immune system, skeleton, connective tissue, and dentition. HIES are characterized by the classic triad of high serum levels of immunoglobulin E (IgE), recurrent staphylococcal cold skin abscess, and recurrent pneumonia with pneumatocele formation. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. A fundamenta...

  4. Audiological and Ontological Findings in Acquired Immune-Deficiency Syndrome (AIDS

    Directory of Open Access Journals (Sweden)

    Farzaneh Vadoudfam

    2001-05-01

    Full Text Available The human immunodeficiency virus (HIV is the virus that causes AIDS (acquired immune-deficiency syndrome. Head and neck are the most common sites in contamination with this virus. HIV can affect outer, middle and inner parts of the ear. Changing in the color of the skin, effusion, infection and sudden hearing loss are some types of the audiological and ontological findings in such patients.

  5. Toxoplasma encephalitis in Haitian adults with acquired immunodeficiency syndrome: a clinical-pathologic-CT correlation

    Energy Technology Data Exchange (ETDEWEB)

    Post, M.J.D.; Chan, J.C.; Hensley, G.T.; Hoffman, T.A.; Moskowitz, L.B.; Lippmann, S.

    1983-05-01

    The clinical data, histologic findings, and computed tomographic (CT) abnormalities in eight adult Haitians with toxoplasma encephalitis were analyzed retrospectively. Diagnosis was established by identification of Toxoplasma gondii on autopsy in five and brain biopsy in three specimens and subsequently confirmed by the immunoperoxidase method. All these patiens, six of whom had been in the United States for 24 months or less, had severe idiopathic immunodeficiency syndrome. All were lymphopenic and six were on treatment for tuberculosis when the toxoplasma encephalitis developed. All patients were studied with CT when they developed an altered mental status and fever associated with seizures and/or focal neurologic deficits. Scans before treatment showed multiple intraparenchymal lesions in seven and a single lesion in the thalamus in one. Ring and/or nodular enhancement of the lesions was found in six and hypodense areas in two. Progressions of abnormalities occurred on serial studies. These CT findings that were best shown on axial and coronal thin-section double-dose contrast studies were useful but not diagnostically pathognomonic. In patients with similar clinical presentation CT is recommended to identify focal areas of involvement and to guide brain biopsy or excision so that prompt medical thereapy of this often lethal infection can be instituted.

  6. Extended MRI findings of intersection syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Roger P.; Hatem, Stephen F.; Recht, Michael P. [Cleveland Clinic, Cleveland, OH (United States)

    2009-02-15

    The symptoms and physical findings of intersection syndrome have been well described in the clinical medical literature. However, the magnetic resonance imaging (MRI) findings in patients with intersection syndrome of the forearm have only recently been described in a small number of patients. We review our experience with imaging of intersection syndrome, describe previously unreported MRI findings, and emphasize modifications to MRI protocols for its evaluation. Institutional review board approval was obtained for this retrospective review of patients with MRI findings consistent with intersection syndrome of the forearm during the period from January 2004 to September 2006. Six patients were identified, three males and three females, with an average age of 39.3 years. The MRI examinations were reviewed to assess signal abnormalities within and adjacent to the first and second dorsal extensor tendon compartments (DETC): tendinosis, peritendinous edema or fluid, muscle edema, subcutaneous edema, and juxtacortical edema. The overall longitudinal extent of signal alterations was measured as well as the distance from Lister's tubercle to the crossover of the first and second DETC. Review of the MRIs showed increased intrasubstance tendon signal suggesting tendinosis in two of the six patients, peritendinous edema or fluid in all six patients, muscle edema in five of the six patients, and subcutaneous edema in three of the six patients. Juxtacortical edema was seen in one patient. Peritendinous edema or fluid extended distally beyond the radiocarpal joint in three of the six patients. The average distance from Lister's tubercle to the crossover of the first and second DETC was 3.95 cm, in keeping with recently published data. Intersection syndrome is an uncommon MRI diagnosis. In addition to the previously described MRI findings of edema adjacent to the first or second DETC, possibly with proximal extension and subcutaneous edema, we have identified

  7. Meningitis and stridor in advanced Human immunodeficiency virus/acquired immune deficiency syndrome

    Directory of Open Access Journals (Sweden)

    Naidoo P

    2013-09-01

    Full Text Available P Naidoo, D Pillay, S SamanDepartment of Internal Medicine, Port Shepstone Regional Hospital, University of KwaZulu-Natal, South AfricaAbstract: A 37-year-old female presented confused with a preceding history of severe headache. After clinical examination and investigations, she was diagnosed with disseminated tuberculosis (including central nervous system involvement, and Human immunodeficiency virus/acquired immune deficiency syndrome. Her hospital stay was complicated. She developed stridor and a cerebrovascular accident with left hemiplegia. She died approximately 2 weeks after admission. The potential causes of her stridor included a mediastinal mass or a central mechanism secondary to tuberculosis meningitis. Limited resources precluded definitive imaging of the chest to rule out a mediastinal mass. Further, an autopsy was not done. Despite these limitations, this case is unique because it reports the presence of both stridor and tuberculosis meningitis in an adult patient.Keywords: Human immunodeficiency virus, acquired immune deficiency syndrome, meningitis, stridor, tuberculosis

  8. Frequency of hyponatremia and nonosmolar vasopressin release in the acquired immunodeficiency syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Vitting, K.E.; Gardenswartz, M.H.; Zabetakis, P.M.; Tapper, M.L.; Gleim, G.W.; Agrawal, M.; Michelis, M.F. (Lenox Hill Hospital, New York, NY (USA))

    1990-02-16

    The frequency and pathophysiology of hyponatremia were studied in the acquired immunodeficiency syndrome. Of 71 hospitalized patients surveyed retrospectively, hyponatremia was observed in 37 (52%). Of 48 patients studied prospectively, 27 (56%) were hyponatremic. In 16 hyponatremic patients, volume status; serum and urine osmolalities; renal, adrenal, and thyroid function; and plasma vasopressin levels were assessed. Urine osmolalities were inappropriately elevated relative to serum osmolalities. Four patients had moderate renal insufficiency. Plasma vasopressin levels, measured by radioimmunoassay, were elevated in 15 patients, with the highest levels seen in patients who died. Hyponatremia of multiple etiologies occurred in a majority of inpatients with the acquired immunodeficiency syndrome, often following the administration of hypotonic fluids, and was associated with a 30% (8/27) short-term mortality.

  9. Posterior Cord Syndrome and Trace Elements Deficiency as an Uncommon Presentation of Common Variable Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Yuri Silva Macedo

    2017-01-01

    Full Text Available Diarrhea is one of the most common symptoms in common variable immunodeficiency, but neurologic manifestations are rare. We presented a 50-year-old woman with recurrent diarrhea and severe weight loss that developed a posterior cord syndrome. Endoscopy found a duodenal villous blunting, intraepithelial lymphocytosis, and lack of plasma cells and magnetic resonance imaging of the spine was normal. Laboratory assays confirmed common variable immunodeficiency syndrome and showed low levels of trace elements (copper and zinc. Treatment was initiated with parenteral replacement of trace elements and intravenous human immunoglobulin and the patient improved clinically. In conclusion, physicians must be aware that gastrointestinal and neurologic disorders may be related to each other and remember to request trace elements laboratory assessment.

  10. Imaging findings of Gorlin-Goltz syndrome.

    Science.gov (United States)

    Hajalioghli, Parisa; Ghadirpour, Ali; Ataie-Oskuie, Reza; Kontzialis, Marinos; Nezami, Nariman

    2015-01-01

    A 15-year-old girl was referred to a dentist complaining of parageusia, bad taste in the mouth, which started 9 months ago. Panoramic X-ray and non-enhanced computed tomography scan revealed multiple bilateral unilocular cysts in the mandible and maxilla, along with calcification of anterior part of the falx cerebri. She was eventually diagnosed with Gorlin-Goltz syndrome based on imaging and histopathologic finding of keratocystic odontogenic tumor.

  11. Radiological pulmonary manifestations of acquired immunodeficiency syndrome; Manifestacoes radiologicas pulmonares da sindrome da imunodeficiencia adquirida

    Energy Technology Data Exchange (ETDEWEB)

    Marchiori, Edson; Melo, Alessandro Severo Alves de; Ossa, Alfonso Jaramillo [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Dept. de Radiologia

    1999-06-01

    In this article are reviewed the principal radiologic manifestations of inflammatory and tumoral diseases the compromise the lungs of patients with acquired immunodeficiency syndrome. In the group of inflammatory diseases the radiologic aspects of pneumocystosis, cytomegalovirus disease, cryptococcosis, tuberculosis and bacterial pneumonias are emphasized. In the neoplasic diseases' group the aspects of lymphoma and Kaposi's sarcoma are specially presented. (author)

  12. Meningitis and stridor in advanced Human immunodeficiency virus/acquired immune deficiency syndrome

    OpenAIRE

    Naidoo P; Pillay D; Saman S

    2013-01-01

    P Naidoo, D Pillay, S SamanDepartment of Internal Medicine, Port Shepstone Regional Hospital, University of KwaZulu-Natal, South AfricaAbstract: A 37-year-old female presented confused with a preceding history of severe headache. After clinical examination and investigations, she was diagnosed with disseminated tuberculosis (including central nervous system involvement), and Human immunodeficiency virus/acquired immune deficiency syndrome. Her hospital stay was complicated. She developed stri...

  13. Vanishing bile duct syndrome in human immunodeficiency virus: Nevirapine hepatotoxicity revisited

    Institute of Scientific and Technical Information of China (English)

    Rajan; Kochar; Moises; I; Nevah; Frank; J; Lukens; Michael; B; Fallon; Victor; I; Machicao

    2010-01-01

    Vanishing bile duct syndrome (VBDS) refers to a group of disorders characterized by prolonged cholestasis as a result of destruction and disappearance ofintrahepatic bile ducts. Multiple etiologies have been indentifi ed including infections, neoplastic disorders, autoimmune conditions and drugs. The natural history of this condition is variable and may involve resolution of cholestasis or progression with irreversible damage. VBDS is extremely rare in human immunodeficiency virus (HIV)-infected patients an...

  14. Immune reconstitution syndrome in a human immunodeficiency virus infected child due to giardiasis leading to shock

    Directory of Open Access Journals (Sweden)

    Sneha Nandy

    2015-01-01

    Full Text Available Human immunodeficiency virus (HIV-associated immune reconstitution inflammatory syndrome has been reported in association with tuberculosis, herpes zoster (shingles, Cryptococcus neoformans, Kaposi′s sarcoma, Pneumocystis pneumonia, hepatitis B virus, hepatitis C virus, herpes simplex virus, Histoplasma capsulatum, human papillomavirus, and Cytomegalovirus. However, it has never been documented with giardiasis. We present a 7-year-old HIV infected girl who developed diarrhea and shock following the initiation of antiretroviral therapy, and her stool showed the presence of giardiasis.

  15. Fatal respiratory distress syndrome due to coronavirus infection in a child with severe combined immunodeficiency.

    Science.gov (United States)

    Szczawinska-Poplonyk, Aleksandra; Jonczyk-Potoczna, Katarzyna; Breborowicz, Anna; Bartkowska-Sniatkowska, Alicja; Figlerowicz, Magdalena

    2013-09-01

    Coronaviruses have been demonstrated to contribute substantially to respiratory tract infections among the child population. Though infected children commonly present mild upper airway symptoms, in high-risk patients with underlying conditions, particularly in immunocompromised children these pathogens may lead to severe lung infection and extrapulmonary disorders. In this paper, we provide the first report of the case of a 15-month-old child with severe combined immunodeficiency and coronavirus HKU1-related pneumonia with fatal respiratory distress syndrome.

  16. Study of infections among human immunodeficiency virus/acquired immunodeficiency syndrome patients in Shadan Hospital, Telangana, India

    Directory of Open Access Journals (Sweden)

    Sukumar Gajjala Reddy

    2016-01-01

    Full Text Available Background: Human immunodeficiency virus (HIV pandemicity is a major concern today as it causes greater loss of productivity than any other disease. HIV infection leads to profound immune deficiency and patients become highly susceptible to opportunistic infections (OIs. HIV epidemic in India is heterogeneous in nature, both in terms of routes of transmission as well as geographical spread. Aims: (1 Determine prevalence of OIs among HIV-seropositive patients and their relation to CD4 count and to focus on the routes of transmission. (2 Analyze the route of transmission. Methods: This is a single-center prospective study including all the patients attending acquired immunodeficiency syndrome (AIDS care center during the period of January 2014 to December 2014. Results: Among 71 patients included in this study, mean age was 30 years, 57.7% (41 patients were male, 42.3% (30 patients were female. Mean CD4 cell count of the study group was 260.11 and of patients on antiretroviral therapy increased subsequently to 553.37 cells/ml. Among the infections, the prevalence of candidiasis, tuberculosis (TB, tinea infections, seborrheic dermatitis, giardiasis, cryptosporidiosis, and Entamoeba histolytica were 36.6%, 29.58%, 4.22%, 2.82%, 4.22%, 1.4%, and 1.4%. Most predominant routes were heterosexual transmission at 94.3%. It was followed by vertical transmission seen in 2.8%. Homosexual transmission is 1.4% and intravenous drug abuse 1.4%. Conclusion: The frequency of infections among HIV/AIDS patients has got a similar linear relation with CD4 cell count. This study reports data will serve as a matrix for future evaluation. It is concluded that candidiasis, TB are the most common infections in the HIV-seropositive patients in the present study group.

  17. [Clinical features of oral lesions in patients with human immunodeficiency virus infection/acquired immunodeficiency syndrome in Guangxi autonomous region].

    Science.gov (United States)

    Yong, Xiangzhi; Jiang, Lanlan; Lu, Xiangchan; Liu, Wei; Wu, Nianning; Tao, Renchuan

    2014-08-01

    To investigate the features of oral lesions in patients with human immunodeficiency virus infection/acquired immunodeficiency syndrome (HIV/AIDS). A total of 127 HIV-seropositive patients were interviewed for health information and examined for their HIV-related oral lesions according to the EC Clearing House Criteria on Oral Problems related to HIV-Infection (1992). The examinations were conducted by dental specialist and HIV specialist. The CD4 T cell count in peripheral blood of the patients was tested by flow cytometry. The patients were divided into HIV- infected group (42) and AIDS group (85) according to CDC Classification System for HIV- Infected Adults and Adolescents (revised in 1993). Chi-square test was used to test the relationship between systemic disease and oral lesions, and the difference of the prevalence of oral lesions between the two groups. Among the 127 patients, oral candidiasis (51/127), oral hairy leukoplakia (24/127) were common oral manifestation. There was no relationship between the oral manifestation and systemic disease (P = 0.397). The occurrence of oral lesions and oral candidiasis was significantly different between the two groups (χ² = 7.684, P = 0.006; χ² = 14.410, P < 0.001). The CD4 count was related to the prevalence of oral lesions (P = 0.006) and oral candidasis (P = 0.003). Most oral lesions appeared before the appearance of systemic disease. Oral candidiasis and oral hairy leukoplakia were the most common lesions.Oral lesions had no relationship with systemic disease but could be still an indicator for disease progress.

  18. Echocardiographic versus histologic findings in Marfan syndrome.

    Science.gov (United States)

    Gu, Xiaoyan; He, Yihua; Li, Zhian; Han, Jiancheng; Chen, Jian; Nixon, J V Ian

    2015-02-01

    This retrospective study attempted to establish the prevalence of multiple-valve involvement in Marfan syndrome and to compare echocardiographic with histopathologic findings in Marfan patients undergoing valvular or aortic surgery. We reviewed echocardiograms of 73 Marfan patients who underwent cardiovascular surgery from January 2004 through October 2009. Tissue histology was available for comparison in 29 patients. Among the 73 patients, 66 underwent aortic valve replacement or the Bentall procedure. Histologic findings were available in 29 patients, all of whom had myxomatous degeneration. Of 63 patients with moderate or severe aortic regurgitation as determined by echocardiography, 4 had thickened aortic valves. The echocardiographic findings in 18 patients with mitral involvement included mitral prolapse in 15. Of 11 patients with moderate or severe mitral regurgitation as determined by echocardiography, 4 underwent mitral valve repair and 7 mitral valve replacement. Histologic findings among mitral valve replacement patients showed thickened valve tissue and myxomatous degeneration. Tricuspid involvement was seen echocardiographically in 8 patients, all of whom had tricuspid prolapse. Two patients had severe tricuspid regurgitation, and both underwent repair. Both mitral and tricuspid involvement were seen echocardiographically in 7 patients. Among the 73 patients undergoing cardiac surgery for Marfan syndrome, 66 had moderate or severe aortic regurgitation, although their valves manifested few histologic changes. Eighteen patients had mitral involvement (moderate or severe mitral regurgitation, prolapse, or both), and 8 had tricuspid involvement. Mitral valves were most frequently found to have histologic changes, but the tricuspid valve was invariably involved.

  19. Prenatal Sonographic Findings of Polysplenic Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yoo, Jeong Hyun; Suh, Jeong Soo [Ewha Womans University College of Medicine, Seoul (Korea, Republic of); Lee, Young Ho [Samsung Medical Center, Sungkyunkwan University, School of Medicine, Seoul (Korea, Republic of)

    2004-09-15

    We report 6 cases of polysplenic syndrome diagnosed on prenatal sonography. The mean menstrual age at the time of presentation was 275 weeks (range 184 to 38 weeks). All cases were examined using level-II prenatal sonography. The sonographic findings of polysplenic syndrome were retrograde analyzed and compared to the autopsy or postnatal findings. Polysplenia was detected in 5 cases on the prenatal sonography. Associated cardiovascular anomalies were detected in all 6 cases, all of which had more than one anomaly, namely complete atrioventricular septal defect in two cases, double outlet right ventricle combined with rudimentary LV or mitral atresia in two cases and VSD and ASD in one case each. There were three cases of interrupted IVC with azygous continuation of the posterior thorax. Bradycardia was observed in 2 cases, one of which showed AV dissociation of rhythm. Visceral abnormalities were present in all cases and there were combined anomalies such as echogenic bowel, pelviectasia, horseshoe kidney, and posterior neck cystic hygroma and fetal hydrops. Four cases terminated pregnancy. The autopsy results of 2 cases were comparable to those of the prenatal sonography, however autopsies were not performed in 2 cases. One fetus near term was delivered and the baby subsequently underwent heart surgery and was still alive at the last follow-up. The remaining one case was lost to follow-up. If multiple fetal anomalies, including complex heart disease and polysplenia, are detected in the prenatal sonography, a diagnosis of polysplenic syndrome can be made. IVC interruption with azygous continuation can also be helpful in the diagnosis of polysplenic syndrome, and this can be observed by detecting the double vessel of the posterior thorax

  20. The efficacy of inosine pranobex in preventing the acquired immunodeficiency syndrome in patients with human immunodeficiency virus infection. The Scandinavian Isoprinosine Study Group

    DEFF Research Database (Denmark)

    Pedersen, C; Sandström, E; Petersen, C S

    1990-01-01

    We performed a randomized, double-blind, placebo-controlled trial to assess the efficacy and safety of inosine pranobex (Isoprinosine) [corrected] in the treatment of patients with human immunodeficiency virus (HIV) infection but without manifest acquired immunodeficiency syndrome (AIDS). A total...... or the development of other HIV-related conditions, with the exception of thrush, which developed in fewer patients in the inosine pranobex group (P = 0.05). No serious side effects were observed. We conclude that treatment with inosine pranobex delays progression to AIDS in patients with HIV infection. The duration...

  1. An Increased Risk of Osteoporosis during Acquired Immunodeficiency Syndrome

    OpenAIRE

    Annapoorna, N.; Rao, G. Venkateswara; Reddy, N S; Rambabu, P.; Rao, K.R.S.Samabasiva

    2004-01-01

    Osteoporosis is characterized by decreased bone mineral density and mechanistic imbalances of bone tissue that may result in reduced skeletal strength and an enhanced susceptibility to fractures. Osteoporosis in its most common form affects the elderly (both sexes) and all racial groups of human beings. Multiple environmental risk factors like acquired immune deficiency syndrome (AIDS) are believed to be one of the causes of osteoporosis. Recently a high incidence of osteoporosis has been obs...

  2. Radiologic findings in the Proteus syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Azouz, E.M.; Costa, T.; Fitch, N.

    1987-10-01

    The radiological findings in two patients with the Proteus syndrome are described. Features in our two cases not previously mentioned or stressed include vertebral dysplasia and enlargement (megaspondylodysplasia), bilateral genu valgum, recurrent after surgery and intraabdominal and mesenteric lipomatosis. Emergency laparotomy was performed on the first patient who had a twisted necrotic portion of mesenteric fat. Macrodactyly, skeletal muscle atrophy and subcutaneous fat accumulation in the abdominal wall were present in both. In addition the second patient was mentally retarded and had frontal bony prominence of skull. Computed tomography was used for the specific diagnosis of the lipomatous tissues in both patients.

  3. Angiographic Features and Cardiovascular Risk Factors in Human Immunodeficiency Virus-Infected Patients With First-Time Acute Coronary Syndrome

    DEFF Research Database (Denmark)

    Knudsen, Andreas; Mathiasen, Anders B; Worck, R.H.

    2013-01-01

    A matched cohort study was conducted comparing patients with first-time acute coronary syndromes infected with human immunodeficiency virus (HIV) to non-HIV-infected patients with and without diabetes matched for smoking, gender, and type of acute coronary syndrome who underwent first-time coronary...

  4. MR findings in iliotibial band syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Nishimura, G.; Yamato, M. [Department of Radiology, Dokkyo University School of Medicine, 880 Kitakobayashi, Mibu, Shimotsuga-gun, Tochigi-ken 321-02 (Japan); Tamai, K. [Department of Orthopedic Surgery, Dokkyo University School of Medicine, Tochigi-ken (Japan); Takahashi, J. [Department of Orthopedic Surgery, Shimizu Municipal Hospital, Shimizu (Japan); Uetani, M. [Department of Radiology, Nagasaki University School of Medicine, Nagasaki (Japan)

    1997-09-01

    Objective. To elucidate the MR findings in iliotibial band (ITB) syndrome. Design and patients. The subjects comprised four patients (five knees) with lateral knee pain: two athletes and two non-athletes. One non-athlete was engaged in work requiring repetitive knee movement, and the other suffered from Cushing syndrome and had bilateral abnormalities. All patients were suspected of having a lateral meniscal tear prior to MR examination, but physical examination following provisional MR diagnosis warranted the final diagnosis. MR studies included fast spin echo sagittal imaging, fat-saturated fast spin echo proton density coronal imaging, and T2* radial imaging. Twelve normal volunteers were examined. Results and conclusion. Fat-saturated coronal imaging demonstrated an ill-defined, high-intensity area deep to the ITB. T2* radial imaging showed an identical, but less conspicuous, abnormality. The MR finding suggested soft tissue inflammation and/or edema rather than focal fluid collection in the bursae. The signal alteration predominated in the region beneath the posterior fibers of the ITB, thus supporting the current opinion that the posterior fibers of the ITB are tighter against the lateral femoral epicondyle than the anterior fibers. The ITB itself did not show any signal alteration or increased thickness. (orig.). With 4 figs., 1 tab.

  5. Choroidal findings in idiopathic uveal effusion syndrome

    Directory of Open Access Journals (Sweden)

    Harada T

    2011-11-01

    Full Text Available Tomomi Harada, Shigeki Machida, Takamistu Fujiwara, Yasunori Nishida, Dajiro KurosakaDepartment of Ophthalmology, Iwate Medical University School of Medicine, Iwate, JapanPurpose: We report choroidal findings by means of enhanced depth imaging spectral-domain optical coherence tomography (EDI-OCT in a patient with idiopathic uveal effusion syndrome (IUES.Case report: A 41-year-old man was referred to us with ciliochoroidal and non-rhegmatogenous retinal detachments. Sclerectomies and sclerostomies were performed at the equator in the lower quadrants, resulting in resolution of the ciliochoroidal and retinal detachments. EDI-OCT demonstrated low-reflective areas in the outer choroid. The subfoveal choroidal thickness measured vertically from the outer border of the RPE to the inner border of the sclera was 787 µm which was significantly thicker than the normal value (272 ± 90 µm, n = 131 obtained from age-matched normal controls.Conclusions: The findings made by EDI-OCT have provided additional evidence that choroidal alterations play a role in the pathological process in IUES.Keywords: uveal effusion syndrome, spectral-domain optical coherence tomography, EDI-OCT, OCT, choroid

  6. Progressive intracranial fusiform aneurysms and T-cell immunodeficiency.

    Science.gov (United States)

    Piantino, Juan A; Goldenberg, Fernando D; Pytel, Peter; Wagner-Weiner, Linda; Ansari, Sameer A

    2013-02-01

    In the pediatric population, intracranial fusiform aneurysms have been associated with human immunodeficiency virus/acquired immunodeficiency syndrome and rarely with opportunistic infections related to other immunodeficiencies. The HIV virus and other infectious organisms have been implicated in the pathophysiology of these aneurysms. We present a child with T-cell immunodeficiency but no evidence of human immunodeficiency virus or opportunistic intracranial infections that developed progressive bilateral fusiform intracranial aneurysms. Our findings suggest a role of immunodeficiency or inflammation in the formation of some intracranial aneurysms.

  7. Premature atherosclerosis in patients with acquired immunodeficiency syndrome

    Institute of Scientific and Technical Information of China (English)

    ZENG Yong; YE Yi-cong; LUO Ling; QIU Zhi-feng; HAN Yang; LI Xiao-meng; FANG Quan; ZHANG Shu-yang; LI Tai-sheng

    2010-01-01

    Background Increased risk of atherosclerosis has been reported in patients with human immunodeficiency virus (HIV)infection since highly active antiretroviral therapy (HAART) has come into use. However, there is no clear evidence of premature atherosclerosis in Chinese HIV-infected patients. Our study was designed to determine the relationship between HIV infection and atherosclerosis in Chinese HIV-infected patients.Methods One hundred and forty-five patients were enrolled in this study. These included 82 HIV-infected patients (41HAART-treated and 41 antiretroviral therapy (ART) naive patients) and 43 HIV-negative control subjects. Data on traditional cardiovascular risk factors, HIV infection parameters, and treatment regimens were collected. Pulse wave velocity (PWV) was determined using a pulse pressure analyzer to evaluate the function of the arterial wall as an indicator of atherosclerotic vascular damage.Results A higher PWV ((1358.3±117.8) cm/s vs. (1270.2±189.2) cm/s, P=0.010) was found in ART na(i)ve HIV-infected patients compared with control subjects. However, HAART treated patients had lower PWV compared to ART na(i)ve patients ((1283.8±181.4) cm/s vs. (1358.0±117.8) cm/s, P=0.033). Multiple regression analysis revealed that age (B=5.218, 95% confidence interval (CI) 1.420-9.016, P=0.008), current smoking (B=-74.671, 95% CI -147.003 to -2.339, P=0.043) and HAART (92.7% patients on a protease inhibitor-free regimen) (B=-169.169, 95% CI-272.508 to -65.831, P=0.010) were associated with reduced PWV in HIV-infected patients.Conclusions Reduced PWV in HIV-infected Chinese patients indicates that they are more likely to develop arterial wall stiffness, possibly by atherosclerosis. A protease inhibitor-free regime may be protective for arterial wall of HIV infected patients.

  8. [The incidence of oral candidiasis in patients with human immunodeficiency virus infection/acquired immunodeficiency syndrome from Yunnan, China].

    Science.gov (United States)

    Wen, Yan; Li, Chengwen; Pei, Junhaoxiang; Bai, Jinsong; Yang, Xianghong; Duan, Kaiwen

    2014-08-01

    To assess the incidence of oral candidiasis and its influencing factors in patients with human immunodeficiency virus infection/acquired immunodeficiency syndrome (HIV/AIDS). An oral examination was conducted in the 1 566 HIV/AIDS patients in the Third Hospital of Kunming from March 2008 to September 2012 (M/F: 1 062/504, age range: 0.2 to 84.0 years old). The HIV viral load (HIV- RNA) and peripheral blood CD4 count were respectively analyzed by Bayer Q340 fluorescence signal surveying instrument (bDNA method) and flow cytometry analysis. The information on usage of highly active anti-retroviral (HAART) drugs and transmission of HIV were obtained through questionnaires. The incidence of oral candidiasis in patients with different HIV-RNA levels and CD4 count and the use of HAART was analyzed and compared. The total incidence of oral candidosis was 31.0% (486/1 566) and there was no difference in sex. The oral lesions were presented by three types, psudomembranous candidosis (PC), erythematous candidosis (EC) and angular cheilitis (AC), and the morbidity was 13.9% (217/1 566), 17.0% (267/1 566) and 4.9% (77/1 566), respectively. The average level of CD4 count in psudomembranous candidosis, erythematous candidosis and angular cheilitis [81.0 (146.0), 74.0 (152.0) and 69.0 (121.5) cell/µl] showed no significant difference (P > 0.05). The incidence of oral candidiasis in non-HAART and HAART subjects were 36.3% (402/1 107) and 18.3% (84/459), respectively (P = 0.000). The CD4 count and absolute counts of HIV viral load in oral candidiasis patients and non-oral candidiasis patients had significant difference (Z = -10.261, P = 0.000 and Z = -4.762, P = 0.000). The morbidity of oral candidiasis in HIV/AIDS patients in Yunnan Province was high, including PC, EC and AC and hyperplastic candidosis was not detected. The incidence was related to the degree of immune suppression and HIV viral load.

  9. Pulmonary cryptococcosis in rheumatoid arthritis (RA) patients: Comparison of imaging characteristics among RA, acquired immunodeficiency syndrome, and immunocompetent patients

    Energy Technology Data Exchange (ETDEWEB)

    Yanagawa, Noriyo, E-mail: noriyo_yana@ybb.ne.jp [Departments of Radiology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, 3-8-22, Honkomagome, Bunkyo-ku, Tokyo 113-8677 (Japan); Sakai, Fumikazu [Department of Diagnostic Radiology, Saitama Medical University International Medical Center, 1397-1 Yamane, Hidaka-shi, Saitama 350-1298 (Japan); Takemura, Tamiko [Department of Pathology, Japanese Red Cross Medical Center, 4-1-22 Hiroo, Shibuya-ku, Tokyo 150-8935 (Japan); Ishikawa, Satoru [Department of Respiratory Medicine, National Hospital Organization Chiba-East-Hospital, 673 Nitona-cho, Chuo-ku, Chiba-shi, Chiba 260-8712 (Japan); Takaki, Yasunobu [Departments of Radiology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, 3-8-22, Honkomagome, Bunkyo-ku, Tokyo 113-8677 (Japan); Hishima, Tsunekazu [Department of Pathology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, 3-8-22, Honkomagome, Bunkyo-ku, Tokyo 113-8677 (Japan); Kamata, Noriko [Departments of Radiology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, 3-8-22, Honkomagome, Bunkyo-ku, Tokyo 113-8677 (Japan)

    2013-11-01

    Purpose: The imaging characteristics of cryptococcosis in rheumatoid arthritis (RA) patients were analyzed by comparing them with those of acquired immunodeficiency syndrome (AIDS) and immunocompetent patients, and the imaging findings were correlated with pathological findings. Methods: Two radiologists retrospectively compared the computed tomographic (CT) findings of 35 episodes of pulmonary cryptococcosis in 31 patients with 3 kinds of underlying states (10 RA, 12 AIDS, 13 immunocompetent), focusing on the nature, number, and distribution of lesions. The pathological findings of 18 patients (8 RA, 2 AIDS, 8 immunocompetent) were analyzed by two pathologists, and then correlated with imaging findings. Results: The frequencies of consolidation and ground glass attenuation (GGA) were significantly higher, and the frequency of peripheral distribution was significantly lower in the RA group than in the immunocompetent group. Peripheral distribution was less common and generalized distribution was more frequent in the RA group than in the AIDS group. The pathological findings of the AIDS and immunocompetent groups reflected their immune status: There was lack of a granuloma reaction in the AIDS group, and a complete granuloma reaction in the immunocompetent group, while the findings of the RA group varied, including a complete granuloma reaction, a loose granuloma reaction and a hyper-immune reaction. Cases with the last two pathologic findings were symptomatic and showed generalized or central distribution on CT. Conclusion: Cryptococcosis in the RA group showed characteristic radiological and pathological findings compared with the other 2 groups.

  10. BAEP and autopsy findings in Wallenberg syndrome.

    Science.gov (United States)

    Amantini, A; Arnetoli, G; Rossi, L; Fenzi; Salviati, A; Rizzuto, N; Zappoli, R

    1982-10-01

    BAEPs were recorded in a 70-year-old man who had developed symptoms indicative of Wallenberg syndrome. He died, of extracerebral causes, shortly after hospitalization and an autopsy study was done on the brainstem lesions. Right ear stimulation disclosed BAEP abnormalities, but gave no indication of the level of the ischemic disorder. Histopathological examination showed a typical right dorsolateral medullary infarct. A detailed study of the acoustic pathways demonstrated their anatomical integrity. These findings confirm the uncertainty that still exists as to the exact location and type of generators of BAEP components. They suggest, moreover, that BAEPs can give objective evidence of functional impairment of brainstem acoustic structures even in the absence of persistent anatomical damage.

  11. Imaging findings of femoroacetabular impingement syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Beall, Douglas P.; Sweet, Clifford F.; Martin, Hal D.; Lastine, Craig L.; Grayson, David E.; Ly, Justin Q.; Fish, Jon R. [University of Oklahoma Health Sciences Center, Department of Radiologal Sciences, Oklahoma City (United States)

    2005-11-01

    Femoroacetabular impingement syndrome (FAI) is a pathologic entity which can lead to chronic symptoms of pain, reduced range of motion in flexion and internal rotation, and has been shown to correlate with degenerative arthritis of the hip. History, physical examination, and supportive radiographic findings such as evidence of articular cartilage damage, acetabular labral tearing, and early-onset degenerative changes can help physicians diagnose this entity. Several pathologic changes of the femur and acetabulum are known to predispose patients to develop FAI and recognition of these findings can ultimately lead to therapeutic interventions. The two basic mechanisms of impingement - cam impingement and pincer impingement - are based on the type of anatomic anomaly contributing to the impingement process. These changes can be found on conventional radiography, MR imaging, and CT examinations. However, the radiographic findings of this entity are not widely discussed and recognized by physicians. In this paper, we will introduce these risk factors, the proposed supportive imaging criteria, and the ultimate interventions that can help alleviate patients' symptoms. (orig.)

  12. Immunological studies in acquired immunodeficiency syndrome. Functional studies of lymphocyte subpopulations

    DEFF Research Database (Denmark)

    Hofmann, B; Ødum, Niels; Platz, P

    1985-01-01

    The lymphocyte transformation response in vitro to mitogens (phytohaemagglutinin, concanavalin A, and pokeweed mitogen) and antigens (purified protein derivative and tetanus) was studied in three patients with acquired immunodeficiency syndrome (AIDS), three patients with pre-AIDS, and six healthy...... controls before and after depletion of T4- or T8-positive cells. In controls, T8-depleted lymphocytes responded as well as peripheral blood mononuclear cells (PBMC) when monocytes were added, whereas T4-depleted cells gave about 50% of this response to mitogens and no response at all to antigens...

  13. Prolonged survival and immune reconstitution after chagasic meningoencephalitis in a patient with acquired immunodeficiency syndrome

    Directory of Open Access Journals (Sweden)

    Corti Marcelo

    2006-01-01

    Full Text Available We report a case of cerebral meningoencephalitis due to Trypanosoma cruzi in a patient with acquired immunodeficiency syndrome. The patient presented with seizures and focal neurological signs. Definitive diagnosis of chagasic meningoencephalitis was made by demonstration of free trypomastigote forms in the cerebrospinal fluid. Benznidazol was prescribed with clinical and neurological improvement. Antiretroviral drugs improved cellular immunity and three years later the patient presents a good clinical condition with immune reconstitution and undetectable viral load. Chagasic meningoencephalitis has a poor prognosis when specific treatment is not initiated or is delayed. A high index of diagnosis is necessary for early diagnosis and treatment, especially in endemic areas for Trypanosoma cruzi infection.

  14. Low-dose growth hormone and human immunodeficiency virus-associated lipodystrophy syndrome: a pilot study

    DEFF Research Database (Denmark)

    Andersen, Ove; Haugaard, Steen B; Flyvbjerg, A

    2004-01-01

    BACKGROUND: Treatment with high doses (2-6 mg day(-1)) of human growth hormone (hGH) in patients with human immunodeficiency virus (HIV)-associated lipodystrophy syndrome (HALS) has been shown to increase concentrations of total insulin-like growth-factor-I (IGF-I) more than twofold greater than......' treatment of lipodystrophic HIV-infected patients with hGH, 0.7 mg day(-1), increased total and free IGF-I twofold and appeared safe and tolerable. The potential of low-dose hGH in the treatment of HIV-lipodystrophy awaits examination by placebo-controlled, randomized trials....

  15. Detection of thoracic infections by nuclear medicine techniques in the acquired immunodeficiency syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kramer, E.L.; Sanger, J.J. (Memorial Sloan-Kettering Cancer Center, New York, NY (USA))

    1989-11-01

    The challenge of the acquired immunodeficiency syndrome (AIDS) for nuclear medicine has been the early detection of related intrathoracic opportunistic infections, inflammatory conditions, and neoplasms. Gallium-67 citrate scanning has proved a sensitive test not only for Pneumocystis carinii pneumonia but for many of the other opportunistic infections and malignancies, including mycobacterial infections and lymphoma. Patterns and intensity of gallium uptake may suggest more specific diagnoses. Indium-111-labeled white blood cells may also be a valuable diagnostic tool in the AIDS patient.41 references.

  16. Pseudo-Cushing's syndrome in human immunodeficiency virus-infected patients.

    Science.gov (United States)

    Miller, K K; Daly, P A; Sentochnik, D; Doweiko, J; Samore, M; Basgoz, N O; Grinspoon, S K

    1998-07-01

    To our knowledge, an association between human immunodeficiency virus infection and pseudo-Cushing's syndrome has not previously been described. We describe four HIV-infected patients with pseudo-Cushing's syndrome, characterized by striking dorsocervical and submandibular fat accumulation and central obesity. In each case, cortisol levels were either normal or suppressed adequately with administration of dexamethasone, excluding the diagnosis of true Cushing's syndrome. Immune function and weight improved significantly preceding the development of pseudo-Cushing's syndrome. Three of the four patients were taking a common protease inhibitor at the onset of symptoms, and the fourth reported the exacerbation of his symptoms with the addition of a protease inhibitor. The observed characteristic pattern of fat deposition may be attributable to a specific effect of new antiretroviral therapies or may relate to recovery independent of medication usage. Distinguishing between pseudo-Cushing's syndrome and true Cushing's syndrome is critical for preventing the unnecessary and potentially harmful treatment of such patients. Further research into the mechanisms of this novel phenomenon is needed.

  17. Abnormal in vitro thymocyte differentiation in a patient with severe combined immunodeficiency-Nezelof`s syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Knutsen, A.P.; Wall, D.; Mueller, K.R.; Bouhasin, J.D. [Pediatric Research Institute, St. Louis, MO (United States)

    1996-05-01

    An in vitro coculture model system of CD34+ stem cells and allogenic cultured thymic epithelia fragments was used to evaluate thymocyte differentiation in a 9-month-old child of Amish descent with Nezelof syndrome. Though the patient`s stem cells differentiate to acquire normal expression of CD2 and CD7, later steps of maturation were abnormal. There was detectable but reduced expression of CD3 and CD4 phenotypes. CD44+ expression, however, was markedly reduced. CD44 is an adhesion molecule, interacting with the matrix ligands hyaluronan and fibronectin, and is expressed early in thymocyte differentiation and subsequently in mature T cells. It is hypothesized that abnormal expression of CD44 in a variant of severe combined immunodeficiency, Nezelof`s syndrome, interferes with normal thymocyte and thymic epithelial interaction, which leads to abnormal thymocyte differentiation. 35 refs., 2 figs., 3 tabs.

  18. Lipodystrophic syndrome in children and adolescents infected with the human immunodeficiency virus

    Directory of Open Access Journals (Sweden)

    Crésio Alves

    2008-08-01

    Full Text Available The introduction of highly active antiretroviral therapy (HAART for the treatment of acquired immunodeficiency syndrome (AIDS has resulted in greater survival of patients infected with the human immunodeficiency virus (HIV. However, the use of these drugs has been associated with lipodystrophic syndrome (LS, which is characterized by metabolic alterations (dyslipidemia, insulin resistance, diabetes, and lactic acidosis and abnormal corporal fat distribution. Clinically, LS may manifest as three different forms: lipohipertrophy (accumulation of fat in the central part of the body, lipoatrophy (loss of fat in the extremities, face and buttocks and mixed (lipohipertrophy + lipoatrophy. Although its physiopathology has not been elucidated, some mechanisms have been described, including leptin and adiponectin deficiency, mitochondrial dysfunction and use of antiretroviral drugs. The type, dose and duration of the antiretroviral treatment, as well as age and puberty are the main risk factors. LS is also associated with increased incidence of cardiovascular illnesses, atherosclerosis and diabetes mellitus. Treatment includes physical activity, cautious restriction of caloric intake, changes in antiretroviral therapy, and use of insulin-sensitizing and lipid-lowering agents. Follow up must be periodic, consisting of measurement of body fat distribution, evaluation of the lipid profile and insulin resistance.

  19. Lipodystrophic syndrome in children and adolescents infected with the human immunodeficiency virus

    Directory of Open Access Journals (Sweden)

    Crésio Alves

    Full Text Available The introduction of highly active antiretroviral therapy (HAART for the treatment of acquired immunodeficiency syndrome (AIDS has resulted in greater survival of patients infected with the human immunodeficiency virus (HIV. However, the use of these drugs has been associated with lipodystrophic syndrome (LS, which is characterized by metabolic alterations (dyslipidemia, insulin resistance, diabetes, and lactic acidosis and abnormal corporal fat distribution. Clinically, LS may manifest as three different forms: lipohipertrophy (accumulation of fat in the central part of the body, lipoatrophy (loss of fat in the extremities, face and buttocks and mixed (lipohipertrophy + lipoatrophy. Although its physiopathology has not been elucidated, some mechanisms have been described, including leptin and adiponectin deficiency, mitochondrial dysfunction and use of antiretroviral drugs. The type, dose and duration of the antiretroviral treatment, as well as age and puberty are the main risk factors. LS is also associated with increased incidence of cardiovascular illnesses, atherosclerosis and diabetes mellitus. Treatment includes physical activity, cautious restriction of caloric intake, changes in antiretroviral therapy, and use of insulin-sensitizing and lipid-lowering agents. Follow up must be periodic, consisting of measurement of body fat distribution, evaluation of the lipid profile and insulin resistance.

  20. Avian influenza: potential impact on sub-Saharan military populations with high rates of human immunodeficiency virus/acquired immunodeficiency syndrome.

    Science.gov (United States)

    Feldman, Robert L; Nickell, Kent

    2007-07-01

    Several sub-Saharan militaries have large percentages of troops with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome. With the arrival of avian influenza in Africa, the potential exists that some of those soldiers might also become infected with H5N1, the virus responsible for the disease. Two possible scenarios have been postulated regarding how such a coinfection of HIV and H5N1 might present. (1) Soldiers already weakened by HIV/acquired immunodeficiency syndrome rapidly succumb to H5N1. The cause of death is a "cytokine storm," essentially a runaway inflammatory response. (2) The weakened immune system prevents the cytokine storm from occurring; however, H5N1 is still present, replicating, and being shed, leading to the infection of others. A cytokine storm is particularly dangerous for individuals of military age, as evidenced by the large number of soldiers who died during the 1918 influenza epidemic. If large numbers of sub-Saharan soldiers suffer a similar fate from avian influenza, then military and political instability could develop.

  1. Dental findings in Cornelia de Lange syndrome.

    Science.gov (United States)

    Toker, Aslihan Soyal; Ay, Sinan; Yeler, Hasan; Sezgin, Ilhan

    2009-04-30

    Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain. The patient had the symptoms of Cornelia de Lange syndrome. During the oral examination of this patient, the patient was found to have the typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the symptoms of the Hutchinson's syndrome, which had never been reported before.

  2. Detection of Cryptosporidium - specific coproantigen in human immunodeficiency virus/acquired immunodeficiency syndrome patients by using a commercially available immunoenzymatic assay

    Directory of Open Access Journals (Sweden)

    Claudio Vieira Silva

    2003-12-01

    Full Text Available The aim of this study was to verify the occurrence of Cryptosporidium infection in 52 human immunodeficiency virus (HIV/acquired immunodeficiency syndrome (AIDS patients (group 1 and 38 clinically healthy individuals (group 2 by using enzyme immunoassay (EIA. All fecal samples collected were submitted to the Baermann, Lutz, and Ritchie methods, the Safranin/Methylene Blue, and Weber's chromotrope modified Trichrome staining techniques, and EIA. In group 1, parasitological staining techniques and EIA were both positive for Cryptosporidium sp. infection in 3/52 (5.8% samples and both negative in 45/52 (86.5% samples, while 4/52 (7.7% samples were positive in EIA and negative in parasitological staining techniques. Concerning group 2, all samples were negative by EIA and microscopy for Cryptosporidium infection. In conclusion, EIA may be an alternative method for detecting Cryptosporidium-specific coproantigen in HIV/AIDS patients.

  3. MRI findings in thoracic outlet syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Aralasmak, Ayse; Sharifov, Rasul; Kilicarslan, Rukiye; Alkan, Alpay [Bezmialem Vakif University, Department of Radiology, Fatih/Istanbul (Turkey); Cevikol, Can; Karaali, Kamil; Senol, Utku [Akdeniz University, Department of Radiology, Antalya (Turkey)

    2012-11-15

    We discuss MRI findings in patients with thoracic outlet syndrome (TOS). A total of 100 neurovascular bundles were evaluated in the interscalene triangle (IS), costoclavicular (CC), and retropectoralis minor (RPM) spaces. To exclude neurogenic abnormality, MRIs of the cervical spine and brachial plexus (BPL) were obtained in neutral. To exclude compression on neurovascular bundles, sagittal T1W images were obtained vertical to the longitudinal axis of BPL from spinal cord to the medial part of the humerus, in abduction and neutral. To exclude vascular TOS, MR angiography (MRA) and venography (MRV) of the subclavian artery (SA) and vein (SV) in abduction were obtained. If there is compression on the vessels, MRA and MRV of the subclavian vessels were repeated in neutral. Seventy-one neurovascular bundles were found to be abnormal: 16 arterial-venous-neurogenic, 20 neurogenic, 1 arterial, 15 venous, 8 arterial-venous, 3 arterial-neurogenic, and 8 venous-neurogenic TOS. Overall, neurogenic TOS was noted in 69%, venous TOS in 66%, and arterial TOS in 39%. The neurovascular bundle was most commonly compressed in the CC, mostly secondary to position, and very rarely compressed in the RPM. The cause of TOS was congenital bone variations in 36%, congenital fibromuscular anomalies in 11%, and position in 53%. In 5%, there was unilateral brachial plexitis in addition to compression of the neurovascular bundle. Severe cervical spondylosis was noted in 14%, contributing to TOS symptoms. For evaluation of patients with TOS, visualization of the brachial plexus and cervical spine and dynamic evaluation of neurovascular bundles in the cervicothoracobrachial region are mandatory. (orig.)

  4. Mutations in Z8T824 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

    NARCIS (Netherlands)

    de Greef, Jessica C.; Wang, Jun; Balog, Judit; den Dunnen, Johan T.; Frants, Rune R.; Straasheijm, Kirsten R.; Aytekin, Caner; van der Burg, Mirjam; Duprez, Laurence; Ferster, Alina; Gennery, Andrew R.; Gimelli, Giorgio; Reisli, Ismail; Schuetz, Catharina; Schulz, Ansgar; Smeets, Dominique F. C. M.; Sznajer, Yves; Wijmenga, Cisca; van Eggermond, Maria C.; van Ostaijen-ten Dam, Monique M.; Lankester, Arjan C.; van Tol, Maarten J. D.; van den Elsen, Peter J.; Weemaes, Corry M.; van der Maarel, Silvere M.

    2011-01-01

    Autosomal-recessive immunodeficiency, centromeric instability, and facial anomalies (ICE) syndrome is mainly characterized by recurrent, often fatal, respiratory and gastrointestinal infections. About 50% of patients carry mutations in the DNA methyltransferase 3B gene (DNMT3B) (ICF1). The remaining

  5. Neuroimaging findings in Mowat-Wilson syndrome

    DEFF Research Database (Denmark)

    Garavelli, Livia; Ivanovski, Ivan; Caraffi, Stefano Giuseppe

    2017-01-01

    PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency o...

  6. Neuroimaging findings in Mowat-Wilson syndrome

    DEFF Research Database (Denmark)

    Garavelli, Livia; Ivanovski, Ivan; Caraffi, Stefano Giuseppe

    2016-01-01

    PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency o...

  7. [Systemic and ophthalmological findings in Cornelia de Lange syndrome].

    Science.gov (United States)

    Mrugacz, Małgorzata; Sielicka, Danuta

    2012-01-01

    Cornelia de Lange Syndrome (CdLS, de Lange syndrome, Brachmann-de Lange syndrome), is a relatively rare genetic disorder, characterized by set of clinical abnormalities concerning different organs and systems. Phenotypic diagnosis is based on a specific dysmorphic features seen after the birth. We described a genetic basis, hereditary patterns, characteristic dysmorphic features and the most common clinical findings of patients Cornelia de Lange Syndrome concerning eye and vision, hearing, cardiovascular, respiratory, gastrointestinal, genitourinary, skeletal and psychomotor development.

  8. Post-transplant lymphoproliferative disorders: implications for acquired immunodeficiency syndrome-associated malignancies.

    Science.gov (United States)

    Swinnen, L J

    2001-01-01

    Post-transplant lymphoproliferative disorders (PTLDs) comprise a histologic spectrum, ranging from hyperplastic-appearing lesions to frank non-Hodgkin's lymphoma or multiple myeloma histology. Multiple clones may coexist, each representing a discrete lymphomagenic event, a situation that is unique to immunodeficiency states. The incidence varies from 1% in renal recipients to 5% in heart recipients, but can be markedly increased by the use of anti-T-cell therapies or by T-cell depletion in bone marrow transplantation. PTLD continues to arise, even many years after transplantation, and late T-cell lymphomas have recently been recognized. Pretransplant Epstein-Barr virus (EBV) seronegativity increases risk to as high as 30%-50%. PTLD has a highly variable clinical picture; certain patterns are, however, seen. Reversibility of PTLD with reduction in immunosuppressives has long been recognized. Predicting reversibility has been difficult. The presence or absence of bcl-6 mutations has recently been identified as being of predictive value. Surgical resection can be curative. Cytotoxics, although problematic, can also be curative. Long-term remission has been achieved with anti CD21 and CD24 antibodies; efficacy has been reported for interferon alfa and for rituximab. In vitro expanded EBV-specific T cells have been effective as treatment and as prophylaxis in the setting of bone marrow transplantation. EBV viral load measured in blood appears to associate with the emergence of PTLD and may facilitate prophylactic studies. PTLD is a model of immunodeficiency-related EBV lymphomagenesis. Pathogenetic, therapeutic, and prophylactic insights gained from the study of PTLD are likely to be applicable to the acquired immunodeficiency syndrome setting.

  9. Agreement between premortem and postmortem diagnoses in patients with acquired immunodeficiency syndrome observed at a brazilian teaching hospital

    Directory of Open Access Journals (Sweden)

    BORGES Aércio Sebastião

    1997-01-01

    Full Text Available Acquired immunodeficiency syndrome (AIDS is one of the main causes of death in adults worldwide. More commonly than in the general population, in patients with AIDS there is substantial disagreement between causes of death which are clinically suspected and those established by postmortem examination. The findings of 52 postmortem examinations were compared to the premortem (clinical diagnoses, and there was 46% agreement between them. Fifty two percent of the patients had more than one postmortem diagnosis, and 48% had at least one AIDS-related disease not suspected clinically. Cytomegalovirus infection was the commonest (30.7% autopsy finding, but not a single case had been suspected premortem. Bacterial infection, tuberculosis, and histoplasmosis were also common, sometimes not previously suspected, postmortem findings. This study shows that multiple infections occur simultaneously in AIDS patients, and that many among them are never suspected before the postmortem examination. These findings suggest that an aggressive investigation of infections and cancers should be done in patients with AIDS, particularly in those who do not respond to therapy of an already recognized condition

  10. Rifabutin corneal deposits in a patient with acquired immunodeficiency syndrome: in vivo confocal microscopy investigation.

    Science.gov (United States)

    Mazzotta, Cosimo; Traversi, Claudio; Nuti, Elisabetta; Sparano, Maria Caterina; Caporossi, Aldo

    2009-01-01

    To establish the real localization of rifabutin-related corneal deposits in a patient with human immunodeficiency virus (HIV) infection by in vivo HRT II confocal microscopy with related clinicopathologic implications. Observational case report. After Siena University Institutional Review Board approval in May 2008 and specific informed consent, a 54-year-old patient with HIV infection under rifabutin treatment for acquired immunodeficiency syndrome-related Mycobacterium avium complex prevention who developed diffuse corneal deposits was examined at the Department of Ophthalmology of Siena University. He underwent a complete clinical eye examination, biomicroscopy, and digital slit lamp photographs, endothelial specular microscopy, ultrasound pachymetry, and confocal microscopy by HRT II system. Confocal scans revealed the presence of deep stromal and pre descemetic hyperreflective polymorphous deposits. In vivo confocal examination excluded the presence of rifabutin-related deposits at endothelial level. Confocal microscopy enables establishment of the real localization of rifabutin deposits at deep stromal level, providing a better qualitative analysis of all corneal layers compared to biomicroscopic examination, with clinical and physiopathologic implications.

  11. Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.

    Science.gov (United States)

    Stepensky, Polina; Rensing-Ehl, Anne; Gather, Ruth; Revel-Vilk, Shoshana; Fischer, Ute; Nabhani, Schafiq; Beier, Fabian; Brümmendorf, Tim H; Fuchs, Sebastian; Zenke, Simon; Firat, Elke; Pessach, Vered Molho; Borkhardt, Arndt; Rakhmanov, Mirzokhid; Keller, Bärbel; Warnatz, Klaus; Eibel, Hermann; Niedermann, Gabriele; Elpeleg, Orly; Ehl, Stephan

    2015-01-29

    Autoimmune cytopenia is a frequent manifestation of primary immunodeficiencies. Two siblings presented with Evans syndrome, viral infections, and progressive leukopenia. DNA available from one patient showed a homozygous frameshift mutation in tripeptidyl peptidase II (TPP2) abolishing protein expression. TPP2 is a serine exopeptidase involved in extralysosomal peptide degradation. Its deficiency in mice activates cell death programs and premature senescence. Similar to cells from naïve, uninfected TPP2-deficient mice, patient cells showed increased major histocompatibility complex I expression and most CD8(+) T-cells had a senescent CCR7-CD127(-)CD28(-)CD57(+) phenotype with poor proliferative responses and enhanced staurosporine-induced apoptosis. T-cells showed increased expression of the effector molecules perforin and interferon-γ with high expression of the transcription factor T-bet. Age-associated B-cells with a CD21(-) CD11c(+) phenotype expressing T-bet were increased in humans and mice, combined with antinuclear antibodies. Moreover, markers of senescence were also present in human and murine TPP2-deficient fibroblasts. Telomere lengths were normal in patient fibroblasts and granulocytes, and low normal in lymphocytes, which were compatible with activation of stress-induced rather than replicative senescence programs. TPP2 deficiency is the first primary immunodeficiency linking premature immunosenescence to severe autoimmunity. Determination of senescent lymphocytes should be part of the diagnostic evaluation of children with refractory multilineage cytopenias.

  12. HIV-2 and its role in conglutinated approach towards Acquired Immunodeficiency Syndrome (AIDS) Vaccine Development.

    Science.gov (United States)

    Diwan, Batul; Saxena, Rupali; Tiwari, Archana

    2013-12-01

    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 against HIV-1 has proven highly intricate, moreover the laborious and deficient conventional approaches has slackened the pace regarding the development of new vaccines. These concerns may be tackled with the development of HIV-2 vaccine as a natural control of HIV-1 that has been found in ancestors of HIV-2 i.e. African monkeys, mangabeys and macaques. Thereby, suggesting the notion of cross protection among HIV-2 and HIV-1. Assistance of bioinformatics along with vaccinomics strategy can bring about a quantum leap in this direction for surpassing the bottleneck in conventional approaches. These specifics together can add to our conception that HIV-2 vaccine design by in silico strategy will surely be a constructive approach for HIV-1 targeting.

  13. Genome-wide expression analysis in Down syndrome: insight into immunodeficiency.

    Directory of Open Access Journals (Sweden)

    Chong Li

    Full Text Available Down syndrome (DS is caused by triplication of Human chromosome 21 (Hsa21 and associated with an array of deleterious phenotypes, including mental retardation, heart defects and immunodeficiency. Genome-wide expression patterns of uncultured peripheral blood cells are useful to understanding of DS-associated immune dysfunction. We used a Human Exon microarray to characterize gene expression in uncultured peripheral blood cells derived from DS individuals and age-matched controls from two age groups: neonate (N and child (C. A total of 174 transcript clusters (gene-level with eight located on Hsa21 in N group and 383 transcript clusters including 56 on Hsa21 in C group were significantly dysregulated in DS individuals. Microarray data were validated by quantitative polymerase chain reaction. Functional analysis revealed that the dysregulated genes in DS were significantly enriched in two and six KEGG pathways in N and C group, respectively. These pathways included leukocyte trans-endothelial migration, B cell receptor signaling pathway and primary immunodeficiency, etc., which causally implicated dysfunctional immunity in DS. Our results provided a comprehensive picture of gene expression patterns in DS at the two developmental stages and pointed towards candidate genes and molecular pathways potentially associated with the immune dysfunction in DS.

  14. First report of Cystoisospora belli parasitemia in a patient with acquired immunodeficiency syndrome.

    Science.gov (United States)

    Velásquez, Jorge Néstor; di Risio, Cecilia Alicia; Etchart, Cristina Beatriz; Chertcoff, Agustín Víctor; Nigro, Mónica Gabriela; Pantano, María Laura; Ledesma, Bibiana Alba; Vittar, Natalia; Carnevale, Silvana

    2016-01-01

    Cystoisospora belli in patients with the acquired immunodeficiency syndrome (AIDS) has been described as cause of chronic diarrhea and disseminated cystoisosporosis. Diagnosis of intestinal cystoisosporosis can be achieved at the tissue level in the villus epithelium of the small bowel. Disseminated cystoisosporosis is diagnosed by microscopy identification of unizoite tissue cysts in the lamina propria of the intestine. We report a case of disseminated cystoisosporosis in a human immunodeficiency virus (HIV)-infected patient with detection of parasitemia. We studied a 39-year old patient with AIDS and chronic diarrhea by analysis of stool and duodenal biopsy samples. Blood samples were also collected and examined by light microscopy and molecular techniques for C. belli DNA detection. The unizoite tissue cyst stages were present in the lamina propria, with unsporulated oocysts in feces. Zoites were present in blood smears and DNA of C. belli was detected in blood samples. Our study identified a new stage in the life cycle of C. belli. Detection of parasitemia is a novel and noninvasive tool for diagnosis of disseminated cystoisosporosis.

  15. Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: Case report

    Directory of Open Access Journals (Sweden)

    deMello Daphne E

    2005-07-01

    Full Text Available Abstract Background Since it's recognition in 1981, a more complete phenotype of Kabuki syndrome is becoming evident as additional cases are identified. Congenital heart defects and a number of visceral abnormalities have been added to the typical dysmorphic features originally described. Case Report In this report we describe the clinical course of a child diagnosed with Kabuki syndrome based on characteristic clinical, radiological and morphologic features who died of a cardiac arrhythmia at 11-months of age. This infant, however, had abnormal pulmonary architecture and alterations in his cardiac conduction system resulting in episodes of bradycardia and asystole. This child also had an immunological phenotype consistent with common variable immunodeficiency. His clinical course consisted of numerous hospitalizations for recurrent bacterial infections and congenital hypogammaglobulinemia characterized by low serum IgG and IgA but normal IgM levels, and decreased antibody levels to immunizations. T-, B- and NK lymphocyte subpopulations and T-cell function studies were normal. Conclusion This child may represent a more severe phenotype of Kabuki syndrome. Recurrent infections in a child should prompt a thorough immunological evaluation. Additionally, electrophysiology testing may be indicated if cardiopulmonary events occur which are not explained by anatomic defects.

  16. 99mTc-ECD brain SPECT imaging in patients with acquired immunodeficiency syndromes

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    In order to investigate the changes of regional cerebral blood flow(rCBF) in patients with acquired immunodeficiency syndromes (AIDS), 99mTc-ECDbrain SPECT imaging was performed in 5 patients with AIDS and 16 sex and agematched normal controls, and the rCBF percentages compared to the cerebellum werecalculated using a semi-quantitative processing software. Hypoperfusions in the rightand left frontal, temporal, porietal lobe, basal ganglia and left thalamus were seen in1 patient with dementia. Hypoperfusions in the right and left frontal and temporallobe were seen in 4 asymptomatic patients. The rCBF in the right and left frontal.temporal, porietal lobe, basal ganglia and thalamus, front and pons were decreasedsignificantly in patients with AIDS than those of the control subjects (p <0.005). Itis concluded that there exists reduced cortico-subcortical rCBF in AIDS patients.``

  17. Toxoplasmosis of spinal cord in acquired immunodeficiency syndrome patient presenting as paraparesis: A rare entity

    Directory of Open Access Journals (Sweden)

    Sachin R Agrawal

    2014-01-01

    Full Text Available Although brain has been the most common site for toxoplasma infection in acquired immunodeficiency syndrome patients, involvement of spinal cord by toxoplasma has been rarely found. Spinal cord toxoplasmosis can present as acute onset weakness in both lower limbs associated with sensory and bladder dysfunction. A presumptive diagnosis can be made in patients with CD4 count <100/mm 3 based on a positive serum Toxoplasma gondii IgG antibodies, no recent prophylaxis against toxoplasmosis, intramedullary ring enhancing lesion in spinal cord supported by similar lesions in brain parenchyma. Institutions of antitoxoplasma treatment in such patients result in prompt clinical response and therefore avoiding the need of unnecessary invasive diagnostic tests. Here, we report a case of toxoplasmic myelitis in immunocompromised patient presenting as myelopathy who showed significant clinical improvement after starting antitoxoplasma treatment. Hence toxoplasmic myelitis should be considered in toxoplasma seropositive immunocompromised patients presenting as myelopathy and imaging studies showing ring enhancing intramedullary lesion.

  18. Human papillomavirus-associated cancers as acquired immunodeficiency syndrome defining illnesses

    Directory of Open Access Journals (Sweden)

    Shohreh Shahabi

    2013-04-01

    Full Text Available The Centers for Disease Control currently report cervical, vulvar, vaginal, anal and some head and neck cancers as human papillomavirus (HPV-associated cancers. Only cervical cancer is listed amongst acquired immunodeficiency syndrome (AIDS defining illnesses. All of these cancers may represent progression of the immunocompromised state with the inability to eradicate viral infection. This study reports the case of a 27-year old HIV positive female presenting with a persistent right vulvar exophytic lesion. High-risk HPV analysis and immunostaining for P16 were both positive. A biopsy of the lesion revealed invasive squamous cell carcinoma. The patient underwent neoadjuvant radiation and chemotherapy followed by a radical vulvectomy. During treatment, her CD4 T-lymphocyte count decreased to 120 advancing her condition from HIV to AIDS. This case suggests that all HPV-associated cancers should be included as AIDS defining illnesses.

  19. Pediatric patient with systemic lupus erythematosus & congenital acquired immunodeficiency syndrome: An unusual case and a review of the literature

    Directory of Open Access Journals (Sweden)

    Rezaee Fariba

    2008-05-01

    Full Text Available Abstract The coexistence of systemic lupus erythematosus (SLE in patients with congenital human immunodeficiency virus (HIV infection is rare. This is a case report of a child diagnosed with SLE at nine years of age. She initially did well on non-steroidal anti-inflammatory agents, hydroxychloroquine, and steroids. She then discontinued her anti-lupus medications and was lost to follow-up. At 13 years of age, her lupus symptoms had resolved and she presented with intermittent fevers, cachexia, myalgias, arthralgias, and respiratory symptoms. Through subsequent investigations, the patient was ultimately diagnosed with congenitally acquired immunodeficiency syndrome (AIDS.

  20. Borderline tuberculoid leprosy: A manifestation of immune reconstitution inflammatory syndrome in a human immunodeficiency virus infected person

    Directory of Open Access Journals (Sweden)

    Mukhopadhyay Partha

    2006-01-01

    Full Text Available Immune reconstitution inflammatory syndrome describes a collection of inflammatory disorders associated with paradoxical deterioration of various pre-existing processes following start of highly active antiretroviral therapy (HAART in human immunodeficiency virus (HIV-infected patients. Leprosy as an opportunistic infection in immune reconstitution syndrome has been rarely reported in literature. A case of a 30-year-old HIV positive man with extrapulmonary tuberculosis of left foot on HAART having developed borderline tuberculoid leprosy as opportunistic infection in immune reconstitution syndrome has been reported.

  1. SAPHO: syndrome or concept? Imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Earwaker, J.W.S. [Department of Medical Imaging, Holy Spirit Hospital, Brisbane (Australia); Cotten, A. [Service de Radiologie OsteoArticulaire, Hopital Roger Salengro, Lille (France)

    2003-06-01

    The SAPHO syndrome was a term coined to include a variety of musculoskeletal disorders associated with skin conditions, mainly palmoplantar pustulosis and acne conglobata. It is more correctly a spectrum which includes the following: skin lesions, osteoarticular manifestations of synovitis hyperostosis and osteitis affecting particular target sites, and.a clinical course marked by relapses and remissions. The major sites of involvement are the anterior chest wall, the spine, long bones, flat bones, and large and small joints. The distribution and severity of involvement varies from the adult to the pediatric form of chronic recurrent multifocal osteomyelitis (CRMO). The diagnosis of SAPHO syndrome is not difficult when the typical osteoarticular lesions are located in characteristic target sites. The diagnosis is more difficult if atypical sites are involved and there is no skin disease. (orig.)

  2. Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities

    Directory of Open Access Journals (Sweden)

    Hassan Hashemi

    2017-01-01

    Full Text Available The hyperimmunoglobulin E syndromes (HIESs are very rare immunodeficiency syndromes with multisystem involvement, including immune system, skeleton, connective tissue, and dentition. HIES are characterized by the classic triad of high serum levels of immunoglobulin E (IgE, recurrent staphylococcal cold skin abscess, and recurrent pneumonia with pneumatocele formation. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. A fundamental immunologic defect in HIES is not clearly elucidated but abnormal neutrophil chemotaxis due to decreased production or secretion of interferon γ has main role in the immunopathogenesis of syndrome, also distorted Th1/Th2 cytokine profile toward a Th2 bias contributes to the impaired cellular immunity and a specific pattern of infection susceptibility as well as atopic-allergic constitution of syndrome. The ophthalmic manifestations of this disorder include conjunctivitis, keratitis, spontaneous corneal perforation, recurrent giant chalazia, extensive xanthelasma, tumors of the eyelid, strabismus, and bilateral keratoconus. The diagnosis of HIES is inconclusive, dependent on the evolution of a constellation of complex multisystemic symptoms and signs which develop over the years. Until time, no treatment modality is curative for basic defect in HIES, in terms of cytokines/chemokines derangement. Of note, bone marrow transplant and a monoclonal anti-IgE (omalizumab are hoped to be successful treatment in future.

  3. Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX syndrome: a paradigm of immunodeficiency with autoimmunity

    Directory of Open Access Journals (Sweden)

    Federica eBarzaghi

    2012-07-01

    Full Text Available Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX syndrome is a rare monogenic primary immunodeficiency (PID due to mutations of FOXP3, a key transcription factor for naturally occurring (n regulatory T (Treg cells. The dysfunction of Treg cells is the main pathogenic event leading to the multi-organ autoimmunity that characterizes IPEX syndrome, a paradigm of genetically determined PID with autoimmunity. IPEX has a severe early onset and can become rapidly fatal within the first year of life regardless of the type and site of the mutation. The initial presenting symptoms are severe enteritis and/or type 1 diabetes mellitus, alone or in combination with eczema and elevated serum IgE. Other autoimmune symptoms, such as hypothyroidism, cytopenia, hepatitis, nephropathy, arthritis, and alopecia, can develop in patients who survive the initial acute phase.The current therapeutic options for IPEX patients are limited. Supportive and replacement therapies combined with pharmacological immunosuppression are required to control symptoms at onset. However, these procedures can allow only a reduction of the clinical manifestations without a permanent control of the disease. The only known effective cure for IPEX syndrome is haematopoietic stem cell transplantation, but it is always limited by the availability of a suitable donor and the lack of specific guidelines for bone marrow transplant in the context of this disease.This review aims to summarize the clinical histories and genomic mutations of the IPEX patients described in the literature to date. We will focus on the clinical and immunological features that allow differential diagnosis of IPEX syndrome and distinguish it from other PID with autoimmunity. The efficacy of the current therapies will be reviewed, and possible innovative approaches, based on the latest highlights of the pathogenesis to treat this severe primary autoimmune disease of childhood, will be discussed.

  4. Evaluation of Clinical Findings, Some Hematological and Biochemical Findings, and Age and Sex Status in Feline Immunodeficiency Virus (FIV) Seropositive Cats With Clinical Symptoms and Without Clinical Symptoms

    OpenAIRE

    DENİZ, Abdülkerim

    2001-01-01

    This study was performed to investigate the clinical findings, some hematological and biochemical findings, and sex and age status in feline immunodeficiency virus (FIV) seropositive cats. In 37 FIV-seropositive cats, different clinical symptoms were observed (group 1). However, seven of the FIV-seropositive cats showed no clinical symptoms (group 2). The control group was made up of 116 healthy cats. FIV infection was seen more in male cats (78.4%) than in female cats. 62% of the FIV-seropos...

  5. Evaluation of Clinical Findings, Some Hematological and Biochemical Findings, and Age and Sex Status in Feline Immunodeficiency Virus (FIV) Seropositive Cats With Clinical Symptoms and Without Clinical Symptoms

    OpenAIRE

    DENİZ, Abdülkerim

    2014-01-01

    This study was performed to investigate the clinical findings, some hematological and biochemical findings, and sex and age status in feline immunodeficiency virus (FIV) seropositive cats. In 37 FIV-seropositive cats, different clinical symptoms were observed (group 1). However, seven of the FIV-seropositive cats showed no clinical symptoms (group 2). The control group was made up of 116 healthy cats. FIV infection was seen more in male cats (78.4%) than in female cats. 62% of the FIV-seropos...

  6. OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME.

    Science.gov (United States)

    Nanda, Tavish; Kovach, Jaclyn L

    2017-03-15

    To report spectral domain optical coherence tomography and fundus autofluorescence documentation of late stage macular findings associated with Sjogren-Larsson Syndrome in three adult siblings. Three adult siblings with Sjogren-Larsson Syndrome underwent ophthalmic examination and imaging. Crystalline maculopathy and subretinal deposits, presumably lipofuscin accumulation, with macular atrophy were present in varying degrees in all three adult siblings. In adults with Sjogren-Larsson Syndrome, crystalline retinopathy can progress to macular atrophy and the appearance of lipofuscin accumulation.

  7. Turner syndrome: neuroimaging findings: structural and functional.

    LENUS (Irish Health Repository)

    Mullaney, Ronan

    2009-01-01

    Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including the parietal lobe; cerebellum, amygdala, hippocampus; and basal ganglia; and perhaps differences in "connectivity" between frontal and parieto-occipital regions. Finally, there is preliminary evidence that genomic imprinting, sex hormones and growth hormone have significant modulatory effects on brain maturation in TS.

  8. Immunological studies in the acquired immunodeficiency syndrome. II. Active suppression or intrinsic defect--investigated by mixing AIDS cells with HLA-DR identical normal cells

    DEFF Research Database (Denmark)

    Hofmann, B; Ødum, Niels; Jakobsen, B K

    1986-01-01

    The lymphocyte transformation responses to mitogens (phytohaemagglutinin (PHA), concanavalin A (Con A), and pokeweed mitogen (PWM)), allogeneic cells, and the antigen-purified protein derivative (PPD) were studied in six acquired immunodeficiency syndrome (AIDS) patients and in six healthy contro...

  9. Predictor of Mortality in Acquired Immunodeficiency Syndrome Patients with Central Nervous System Opportunistic Infections

    Directory of Open Access Journals (Sweden)

    Agustina Lestari

    2016-12-01

    Full Text Available Background: Indonesia’s increase of acquired immunodeficiency syndrome (AIDS cases is one of the fastest. Mortality cases of AIDS also increase per year. Central nervous system (CNS opportunistic infection is one of the most likely manifestations on advanced stage of Human immunodeficiency virus (HIV/AIDS patients. Common CNS opportunistic infections are toxoplasma infection and tuberculous meningitis (TBM. The study aimed to analyze the predictor of mortality in AIDS patients with CNS opportunistic infections. Methods: This study reviewed 151 medical records from AIDS patients with CNS opportunistic infection admitted to the Department of Neurology, Dr. Hasan Sadikin General Hospital Bandung from 2007-2012. This study was conducted from April to November 2013. Patients’ clinical manifestations (seizure, headache, altered consciousness, laboratory examination (CD4+ level count and treatment history (antiretroviral or ART and cotrimoxazole were collected. Chi-square and logistic regression test were used to determine the mortality predictor in patients. Results: Mortality rate was 37.7%. Clinical manifestations from patients were seizure 29.8%, altered consciousness 66.2%, and headache 88.7%. Patients had cotrimoxazole treatment 44.4% and 38.4% patients had ART. CD4+ level count data from 86 patients were obtained, 94% had CD4+ level count ≤200. Bivariate analysis showed altered consciousness had significant mortality predictor (Odd ratio (OR: 29.944; 95% Confidence interval (CI 6.9–129.945; p<0,0. Multivariate analysis showed ART had highest predictive mortality value (OR: 2.968; 95% CI 1.236–7.126; p=0.015. Conclusions: Altered consciousness and no antiretroviral treatment are mortality predictors in AIDS patients with CNS opportunistic infections.

  10. [The use of growth hormone to treat endocrine-metabolic disturbances in acquired immunodeficiency syndrome (AIDS) patients].

    Science.gov (United States)

    Spinola-Castro, Angela Maria; Siviero-Miachon, Adriana A; da Silva, Marcos Tadeu Nolasco; Guerra-Junior, Gil

    2008-07-01

    Acquired Immunodeficiency Syndrome (Aids) was initially related to HIV-associated wasting syndrome, and its metabolic disturbances to altered body composition. After Highly Active Antiretroviral Therapy (HAART) was started, malnutrition has declined and HIV-associated lipodystrophy syndrome has emerged as an important metabolic disorder. Aids is also characterized by hormonal disturbances, principally in growth hormone/insulin-like growth factor 1 (GH/IGF-1) axis. The use of recombinant human GH (hrGH) was formerly indicated to treat wasting syndrome, in order to increase lean body mass. Even though the use of hrGH in lipodystrophy syndrome has been considered, the decrease in insulin sensitivity is a limitation for its use, which has not been officially approved yet. Diversity in therapeutic regimen is another limitation to its use in Aids patients. The present study has reviewed the main HIV-related endocrine-metabolic disorders as well as the use of hrGH in such conditions.

  11. Oral and dental findings of griscelli syndrome type 3

    Directory of Open Access Journals (Sweden)

    Ozlem Marti Akgun

    2015-09-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive genetic disorder characterized by variable immunodeficiency, partial albinism, abnormal accumulation of melanosomes in melanocytes, pigmentary dilution of the skin, and shiny silver-gray hair. GS has three types, with the first and second types caused by mutations in two genes being located at band 15q21: RAB27A and MYO5A. The expression of the third form of GS is restricted to the characteristic hypopigmentation of GS, and results from mutation in the gene that encodes melanophilin MLPH. It has also been shown that an identical phenotype can result from the deletion of the MYO5A F-exon. The aim of this case report is the presentation of oral and dental features and SEM images of the hair of a 12-year-old girl with GS type 3. [Arch Clin Exp Surg 2015; 4(3.000: 164-167

  12. Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome.

    Science.gov (United States)

    Wada, Taizo; Yasui, Masahiro; Toma, Tomoko; Nakayama, Yuko; Nishida, Mika; Shimizu, Masaki; Okajima, Michiko; Kasahara, Yoshihito; Koizumi, Shoichi; Inoue, Masami; Kawa, Keisei; Yachie, Akihiro

    2008-09-01

    X-linked severe combined immunodeficiency (XSCID) is caused by mutations of the common gamma chain (gammac) and usually characterized by the absence of T and natural killer (NK) cells. Here, we report an atypical case of XSCID presenting with autologous T and NK cells and Omenn syndrome-like manifestations. The patient carried a splice-site mutation (IVS1+5G>A) that caused most of the mRNA to be incorrectly spliced but produced normally spliced transcript in lesser amount, leading to residual gammac expression and development of T and NK cells. The skin biopsy specimen showed massive infiltration of revertant T cells. Those T cells were found to have a second-site mutation and result in complete restoration of correct splicing. These findings suggest that the clinical spectrum of XSCID is quite broad and includes atypical cases mimicking Omenn syndrome, and highlight the importance of revertant mosaicism as a possible cause for variable phenotypic expression.

  13. Behaviors Influencing Human Immunodeficiency Virus Transmission in the Context of Positive Prevention among People Living with HIV/Acquired Immunodeficiency Syndrome in Iran: A Qualitative Study

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    Seyed Ramin Radfar

    2014-01-01

    Full Text Available Background: Identifying factors, which influence health behaviors is critical to designing appropriate and effective preventive programs. Human immunodeficiency virus (HIV transmission is highly related to people behaviors and understanding factors influencing healthy behaviors among Iranian people living with HIVs (PLHIVs/acquired immunodeficiency syndrome (AIDS is very important to tailor an effective response to HIV/AIDS epidemic. Methods: This study was conducted as a qualitative study by methods of focus group discussion and in-depth interview in six provinces of Iran with 64 PLHIVs to determine factors influence engagement in positive prevention. Results: Knowledge and education, feelings of responsibility and positive prevention practices were identified as the primary domains of engagement. These domains were found to be influenced by feelings of ostracism and frustration, poverty, barriers to disclosure of HIV status, access to and utilization of drug abuse treatment services and antiretroviral therapy, adherence to treatment, age, religiousness, sex work, singleness, and incarceration. Conclusions: Designing new interventions and updating current interventions directed toward the aforementioned factors should be addressed by responsible Iranian authorities in order to have a national effective response on the HIV/AIDS epidemic.

  14. Risky sexual behavior related to human immunodeficiency virus/acquired immunodeficiency syndrome among seasonal labor migrants: A cross-sectional study from far Western Region of Nepal

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    Dillee Prasad Paudel

    2013-01-01

    Full Text Available Background: Human immunodeficiency virus/acquired immunodeficiency syndrome is a global public health problem; enormously affecting the national economy, social development and human rights with posing a challenge to human civilization. Seasonal labor migrants are the most at risk population for HIV/AIDS and their risky sexual behaviors exacerbate its transmission. The aim of the study was to explore the HIV/AIDS related sexual behavior of migrant workers. Materials and Methods: A cross-sectional study was carried out among 372 migrant workers backing to Nepal from Banbasa border of India-Nepal during August-October 2010. Migrants having permanent residents of far western region, Nepal were individually contacted at the entry point of Nepal and interviewed in a confidential environment after obtaining informed consent. Data were analysed using the SPSS (16.0 version. Descriptive and inferencial statistics were applied considering P 3 sex partners. Most (82.25% had vaginal sex and 43.54% reported the consistent use of condom. About 64.76% had sex after drinking alcohol. Age, education, monthly income and nature of works were significant with risky behaviors. Conclusion: Inconsistent condom use, multiple sexual partners and sex after drinking alcohol have a cumulative effect on the risk of HIV transmission.

  15. Histoplasmosis in patients with human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS): multicenter study of outcomes and factors associated with relapse.

    Science.gov (United States)

    Myint, Thein; Anderson, Albert M; Sanchez, Alejandro; Farabi, Alireza; Hage, Chadi; Baddley, John W; Jhaveri, Malhar; Greenberg, Richard N; Bamberger, David M; Rodgers, Mark; Crawford, Timothy N; Wheat, L Joseph

    2014-01-01

    Although discontinuation of suppressive antifungal therapy for acquired immunodeficiency syndrome (AIDS)-associated histoplasmosis is accepted for patients with immunologic recovery, there have been no published studies of this approach in clinical practice, and minimal characterization of individuals who relapse with this disease. We performed a multicenter retrospective cohort study to determine the outcome in AIDS patients following discontinuation of suppressive antifungal therapy for histoplasmosis. Ninety-seven patients were divided into a physician-discontinued suppressive therapy group (PD) (38 patients) and a physician-continued suppressive therapy group (PC) (59 patients). The 2 groups were not statistically different at baseline, but at discontinuation of therapy and at the most recent follow-up there were significant differences in adherence to therapy, human immunodeficiency virus (HIV) RNA, and urinary Histoplasma antigen concentration. There was no relapse or death attributed to histoplasmosis in the PD group compared with 36% relapse (p 150 cells/mL, HIV RNA <400 c/mL, Histoplasma antigenuria <2 ng/mL (equivalent to <4.0 units in second-generation method), and no CNS histoplasmosis.

  16. Angiographic Features and Cardiovascular Risk Factors in Human Immunodeficiency Virus-Infected Patients With First-Time Acute Coronary Syndrome

    DEFF Research Database (Denmark)

    Knudsen, Andreas; Mathiasen, Anders B; Worck, R.H.;

    2013-01-01

    A matched cohort study was conducted comparing patients with first-time acute coronary syndromes infected with human immunodeficiency virus (HIV) to non-HIV-infected patients with and without diabetes matched for smoking, gender, and type of acute coronary syndrome who underwent first-time coronary...... angiography. A total of 48 HIV-infected patients were identified from a national database. Coronary angiography showed that the HIV-infected patients had significantly fewer lesions with classification B2/C than the 2 control groups (p...

  17. Imaging findings in external snapping hip syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Krishnamurthy, Ganesh; Connolly, Bairbre L. [The Hospital for Sick Children, Image Guided Therapy, Diagnostic Imaging, Toronto (Canada); Narayanan, Unni [The Hospital for Sick Children, Pediatric Orthopedic Surgery, Toronto (Canada); Babyn, Paul S. [The Hospital for Sick Children, Diagnostic Imaging, Toronto (Canada)

    2007-12-15

    We describe a case of external snapping hip diagnosed by dynamic sonography. The case prompted us to retrospectively review the imaging findings of children who clinically had presented with snapping hip. From this review we identified the features on MRI and CT of either thickening of the iliotibial band or thickening of the anterior edge of the gluteus maximus muscle as the cause of snapping and atrophy of the bulk of gluteus maximus muscle as an important secondary sign associated with snapping. (orig.)

  18. Pediatric Kawasaki Disease and Adult Human Immunodeficiency Virus Kawasaki-Like Syndrome Are Likely the Same Malady.

    Science.gov (United States)

    Johnson, Raymond M; Bergmann, Kelly R; Manaloor, John J; Yu, Xiaoqing; Slaven, James E; Kharbanda, Anupam B

    2016-09-01

    Background.  Pediatric Kawasaki disease (KD) and human immunodeficiency virus (HIV)(+) adult Kawasaki-like syndrome (KLS) are dramatic vasculitides with similar physical findings. Both syndromes include unusual arterial histopathology with immunoglobulin (Ig)A(+) plasma cells, and both impressively respond to pooled Ig therapy. Their distinctive presentations, histopathology, and therapeutic response suggest a common etiology. Because blood is in immediate contact with inflamed arteries, we investigated whether KD and KLS share an inflammatory signature in serum. Methods.  A custom multiplex enzyme-linked immunosorbent assay (ELISA) defined the serum cytokine milieu in 2 adults with KLS during acute and convalescent phases, with asymptomatic HIV(+) subjects not taking antiretroviral therapy serving as controls. We then prospectively collected serum and plasma samples from children hospitalized with KD, unrelated febrile illnesses, and noninfectious conditions, analyzing them with a custom multiplex ELISA based on the KLS data. Results.  Patients with KLS and KD subjects shared an inflammatory signature including acute-phase reactants reflecting tumor necrosis factor (TNF)-α biologic activity (soluble TNF receptor I/II) and endothelial/smooth muscle chemokines Ccl1 (Th2), Ccl2 (vascular inflammation), and Cxcl11 (plasma cell recruitment). Ccl1 was specifically elevated in KD versus febrile controls, suggesting a unique relationship between Ccl1 and KD/KLS pathogenesis. Conclusions.  This study defines a KD/KLS inflammatory signature mirroring a dysfunctional response likely to a common etiologic agent. The KD/KLS inflammatory signature based on elevated acute-phase reactants and specific endothelial/smooth muscle chemokines was able to identify KD subjects versus febrile controls, and it may serve as a practicable diagnostic test for KD.

  19. Cardiac abnormalities in the acquired immunodeficiency syndrome. A prospective study with a clinical-pathological correlation in twenty-one adult patients

    Directory of Open Access Journals (Sweden)

    Herdy Gesmar Volga Haddad

    1999-01-01

    Full Text Available OBJECTIVE - To evaluate the cardiac abnormalities and their evolution during the course of the acquired immunodeficiency syndrome, as well as to correlate clinical and pathological data. METHODS - Twenty-one patients, admitted to the hospital with the diagnosis of acquired immunodeficiency syndrome, were prospectively studied and followed until their death. Age ranged from 19 to 42 years (17 males. ECG and echocardiogram were also obtained every six months. After death, macro- and microscopic examinations were also performed. RESULTS - The most frequent causes of referral to the hospital were: diarrhea or repeated pneumonias, tuberculosis, toxoplasmosis or Kaposi sarcoma. The most frequent findings were acute or chronic pericarditis (42% and dilated cardiomyopathy (19%. Four patients died of cardiac problems: infective endocarditis, pericarditis with pericardial effusion, bacterial myocarditis and infection by Toxoplasma gondii. CONCLUSION - Severe cardiac abnormalities were the cause of death in some patients. In the majority of the patients, a good correlation existed between clinical and anatomical-pathological data. Cardiac evaluation was important to detect early manifestations and treat them accordingly, even in asymptomatic patients.

  20. Miliary tuberculosis and acquired immunodeficiency syndrome – ‘a cursed duet’

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    Atif Tatari

    2016-10-01

    Full Text Available Tuberculous osteomyelitis is rare and usually involves the vertebrae but is seldom found in the foot. The uncommon site and ability to mimic other disorders clinically and radiographically leads to diagnostic and therapeutic delays. We report a case of a 40-year-old man who initially presented to his podiatrist with intermittent pain and swelling of his right ankle and foot that lasted for a year. He also started to exhibit significant weight loss and unexplained fevers and was subsequently hospitalized for cellulitis of his right foot. On further workup, patient was found to have miliary tuberculosis (TB and acquired immunodeficiency syndrome (AIDS. Patient was treated with anti-TB therapy for 9 months and highly active anti-retroviral therapy. Our patient presented with ongoing chronic right foot and ankle pain that was proven to be secondary to TB osteomyelitis of cuneiform bones of the right ankle in the setting of AIDS. The patient's clinical presentation was unusual due to symptom duration and lack of systemic characteristics. Like our case, reported incidence of osteomyelitis of bone/joint in extrapulmonary TB is estimated to be 10%, and out of all bones/joint TB cases, only 1% are found to be in the foot.

  1. Miliary tuberculosis and acquired immunodeficiency syndrome – ‘a cursed duet’

    Science.gov (United States)

    Tatari, Atif; Ramanujam, Sahana; Mathai, Suja; Karabulut, Nigahus; Moser, Robert L.; Wallach, Sara L.

    2016-01-01

    Tuberculous osteomyelitis is rare and usually involves the vertebrae but is seldom found in the foot. The uncommon site and ability to mimic other disorders clinically and radiographically leads to diagnostic and therapeutic delays. We report a case of a 40-year-old man who initially presented to his podiatrist with intermittent pain and swelling of his right ankle and foot that lasted for a year. He also started to exhibit significant weight loss and unexplained fevers and was subsequently hospitalized for cellulitis of his right foot. On further workup, patient was found to have miliary tuberculosis (TB) and acquired immunodeficiency syndrome (AIDS). Patient was treated with anti-TB therapy for 9 months and highly active anti-retroviral therapy. Our patient presented with ongoing chronic right foot and ankle pain that was proven to be secondary to TB osteomyelitis of cuneiform bones of the right ankle in the setting of AIDS. The patient's clinical presentation was unusual due to symptom duration and lack of systemic characteristics. Like our case, reported incidence of osteomyelitis of bone/joint in extrapulmonary TB is estimated to be 10%, and out of all bones/joint TB cases, only 1% are found to be in the foot. PMID:27802849

  2. Erythrovirus B19 infection in acquired immunodeficiency syndrome: screening by histopathology, immunohistochemistry, and in situ hybridization

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    Sérgio Setúbal

    2006-06-01

    Full Text Available Erythrovirus B19 infects erythrocytic progenitors, transiently interrupting erythropoiesis. In AIDS patients it causes chronic anemia amenable to treatment. We looked for evidences of B19 infection in stored bone marrow material from patients with acquired immunodeficiency syndrome. Histological sections were made from stored paraffin blocks from 33 autopsies (39 blocks and 35 biopsies (45 blocks, 30 patients performed from 1988 to 2002. They were examined after hematoxylin-eosin (HE staining, immunohistochemical (IHC, and in situ hybridization. HE revealed intra-nuclear inclusion bodies ("lantern cells" suggesting B19 infection in 19 sections corresponding to 19 of 63 patients examined with this test. Seven of 78 sections subjected to immunohistochemistry were positive, corresponding to 7 of 58 patients examined with this test. Fourteen sections corresponding to 13 of the 20 HE and/or IHC positive patients were subjected to in situ hybridization, with six positives results. Among the 13 patients subjected to the three techniques, only one gave unequivocal positive results in all and was considered a true positive. The frequency of B19 infection (1/63 patients in the material examined can be deemed low.

  3. Sodium stibogluconate (pentostan) overdose in a patient with acquired immunodeficiency syndrome.

    Science.gov (United States)

    Reymond, J M; Desmeules, J

    1998-12-01

    A 32-year-old man with acquired immunodeficiency syndrome (AIDS) admitted to the hospital for treatment of visceral leishmaniasis was inadvertently given 10 times the prescribed first dose of sodium stibogluconate ([Sb] 6.5 g instead of 0.65 g). He experienced no immediate major toxicity during the first 48 hours, but a significant rise of pancreatic enzyme activities was observed (amylase at 10 times the upper limit of normal, lipase at 50 times the upper limit of normal) without clinical signs or indications on computed tomography (CT) of pancreatitis. The third day after the overdose, he developed appendicitis, which appeared coincidental; he recovered uneventfully from surgery. Most of the overdose of Sb was eliminated within the first few hours. Pharmacokinetics remained linear; the rapid, long elimination half-lives (2.7 hours and 54 hours, respectively) were similar to those in previously published results. The administration of a chelating agent, dimercaptosuccinic acid (DMSA), 72 hours after the Sb overdose did not modify the pharmacokinetics of the medication.

  4. Phonological awareness abilities of a child with acquired immunodeficiency syndrome before and after speech therapy.

    Science.gov (United States)

    Furlan, Suzana Aparecida; Fukuda, Marisa Tomoe Hebihara; Granzotti, Raphaela Barroso Guedes

    2012-01-01

    The aim of the present study was to characterize the phonological awareness abilities of a child with Acquired Immunodeficiency Syndrome (AIDS) before and after speech-language therapy. The participant was a 6-year-old girl, first-grade Elementary School student, with AIDS acquired by vertical transmission. The child's phonological awareness abilities were evaluated using the Instrument of Sequential Evaluation of Phonological Awareness (CONFIAS). After this first evaluation, a closed therapeutic program (15 sessions) for phonological awareness was developed, consisting of activities for syllabic and phonemic levels. The CONFIAS was reapplied in the last session in order to investigate therapy effectiveness. In the pre-therapy assessment, the child scored 18 points in syllable tasks and 1 point in phoneme tasks, with a total score of 19 points. In the post-therapy assessment, the child scored 26 points in syllable tasks and 11 points in phoneme tasks, with a total score of 37 points. This study allowed us to characterize the performance of a child with AIDS in tasks of phonological awareness and the effectiveness of the therapeutic program. The score obtained before therapy was much lower than expected for the child's age, and presented significant improvement after speech-language therapy. Thus, professionals working with this population must be aware of therapeutic programs that approach phonological processing abilities in addition to other aspects.

  5. Morphological changes of an inflammatory myopathy in rhesus monkeys with simian acquired immunodeficiency syndrome.

    Science.gov (United States)

    Dalakas, M C; Gravell, M; London, W T; Cunningham, G; Sever, J L

    1987-09-01

    Eleven of 25 rhesus monkeys which died of simian acquired immunodeficiency syndrome (SAIDS) caused by infection with a type D retrovirus related to Mason-Pfizer monkey virus showed evidence of muscle weakness and atrophy and had elevated levels of muscle enzymes. Biopsies of affected muscle studied with enzyme histochemistry showed the characteristic features of polymyositis. Inflammatory cells consisting of lymphocytes, macrophages, and large vacuolated bizarre-shaped cells of undetermined type were surrounding or invading muscle fibers and were present in the perivascular spaces and endomysia septa. Within the perivascular infiltrates, lymphocytes were abundant but very few macrophages were present. Other myopathic features including profound proliferation of fibrous tissue, necrosis, and phagocytosis of muscle fibers were noted to a variable degree. The retrovirus was isolated from affected muscles. The clinical and historical features of polymyositis in rhesus monkeys with SAIDS are very similar to those of human polymyositis. The polymyositis in SAIDS induced by a type D retrovirus related to Mason-Pfizer monkey virus is an excellent primate model to study the mechanism and morphological changes of viral-induced muscle damage.

  6. Computed tomography of the lungs in acquired immunodeficiency syndrome. An early indicator of interstitial pneumonia

    Energy Technology Data Exchange (ETDEWEB)

    Hartelius, H.; Gaub, J.; Jensen, L.I.; Jensen, J.; Faber, V.

    Computed tomography of the chest was performed on 42 occasions as part of the diagnostic work-up in 26 homosexual men with, or suspected of the acquired immunodeficiency syndrome (AIDS). In 17 cases both the chest radiographs and the lung scans were abnormal, and bronchoscopy and/or lung biopsy established an etiologic diagnosis in the majority of these cases. In 9 cases CT of the lungs revealed unequivocal interstitial infiltration in the presence of a normal chest radiography, and subsequently and etiologic agent was demonstrated in all these cases. In 9 cases, patients with symptoms indicative of pulmonary infection had both a normal chest radiograph and a normal lung scan, and in none of these cases did the clinical course or additional diagnostic procedures indicate the presence of current opportunistic lung infection. CT of the lungs seems to identify accurately those patients with severe HIV-related diseases in whom invasive diagnostic procedures such as bronchoalveolar lavage and/or lung biopsy should be done.

  7. Human immunodeficiency virus/acquired immune deficiency syndrome: Using drug from mathematical perceptive.

    Science.gov (United States)

    Chatterjee, Amar Nath; Saha, Shubhankar; Roy, Priti Kumar

    2015-11-12

    Entry of acquired immune deficiency syndrome virus into the host immune cell involves the participation of various components of host and viral cell unit. These components may be categorized as attachment of the viral surface envelope protein subunit, gp120, to the CD4(+) receptor and chemokine coreceptors, CCR5 and CXCR4, present on T cell surface. The viral fusion protein, gp41, the second cleaved subunit of Env undergoes reconfiguration and the membrane fusion reaction itself. Since the CD4(+) T cell population is actively involved; the ultimate outcome of human immunodeficiency virus infection is total collapse of the host immune system. Mathematical modeling of the stages in viral membrane protein-host cell receptor-coreceptor interaction and the effect of antibody vaccine on the viral entry into the susceptible host cell has been carried out using as impulsive differential equations. We have studied the effect of antibody vaccination and determined analytically the threshold value of drug dosage and dosing interval for optimum levels of infection. We have also investigated the effect of perfect adherence of drug dose on the immune cell count in extreme cases and observed that systematic drug dosage of the immune cells leads to longer and improved lives.

  8. [Clinical characteristics of highly active antiretroviral therapy-associated immune reconstruction inflammation in acquired immunodeficiency syndrome].

    Science.gov (United States)

    Liu, Meng; Zheng, Yu-Huang; Zhou, Guo-Qiang; Zhou, Hua-Ying; Chen, Zi; He, Yan; Chen, Xia; Zheng, Li-Wen; Jia, Lu; He, Mei

    2011-02-01

    To summarize the morbidity, mortality, clinical manifestations and risk factors for IRIS (immune reconstruction inflammatory syndrome) during HAART (highly active antiretroviral therapy) in China. From October 2007 to September 2009, a prospective cohort of 238 AIDS (acquired immunodeficiency syndrome) patients on HAART from Hunan and Jianxi provinces was recruited for a follow-up of 24 weeks. And 47 and 191 patients were assigned into the IRIS and non-IRIS groups respectively. The data of general information, clinical manifestations and treatment of two groups were collected and compared. Blood samples were collected in both groups at pre-and post-HAART 12 weeks, 24 weeks for HIV viral load and CD4(+) cell count examinations. A statistical analysis was performed. A total of 47 (19.7%) IRIS cases was analyzed. The median onset of IRIS was 28 (9 - 36) days. And 29 (61.7%) cases of tuberculosis IRIS were found. There was no significant difference in age, gender, route of transmission and antiretroviral regimens between the IRIS and non-IRIS groups. At baseline, Weeks 12 and 24, both groups showed a significant decline of viral load. And there was no significant difference between them. Both groups showed a significant increase of CD4(+) cell count. But there was no significant difference between two groups. However, the baseline CD4(+) cell count was markedly lower in the IRIS group than that in the non-IRIS group. In 85.1% (40/47) of cases, the CD4(+) cell count was HIV RNA viral load decreases in both IRIS and non-IRIS groups without any significant difference. The patients with a CD4(+) cell count < 100/µl are more vulnerable to develop IRIS.

  9. Sweet syndrome: Clinical and Laboratory Findings of 31 Cases

    Directory of Open Access Journals (Sweden)

    Serap Güneş Bilgili

    2013-03-01

    Full Text Available Background and Design: Sweet syndrome is an inflammatory disease characterized by the abrupt onset of pain, red papules and plaques, fever, neutrophilic leukocytosis, and dermal neutrophilic infiltrate. There are not enough data about Sweet syndrome in Turkey. In this article, we studied clinical, laboratory, histopathological, and epidemiological characteristics of patients, who presented to our clinic, and compared the findings with the literature. Materials and Methods: All patients diagnosed with Sweet syndrome in our clinic between 2005 and 2011 were included in the study. The epidemiological, clinical, and laboratory findings were retrospectively evaluated. Results: A total of 31 patients with Sweet’s syndrome - 24 female (77.4%, 7 male (22.6%; aged 23-82 years – included in the study. The average age of the patients was 48 years. Cutaneous lesions were most frequently localized in the upper extremity. Conjunctivitis was the common systemic manifestation, followed by fever, arthralgia, and myalgia. The most common trigger factor was infections of the upper respiratory tract. In histopathological evaluations of skin biopsies, dense neutrophil infiltration compatible with Sweet syndrome was detected in the dermis. Also, findings of vasculitis were determined in 3 patients. Discussion: The clinical and laboratory findings in our study are mostly similar to those reported in the literature. We found evidence of vasculitis in 10% of cases, therefore, we think the presence of vasculitis does not necessarily rule out the diagnosis of Sweet syndrome

  10. Neuropsychiatric findings in Cushing syndrome and exogenous glucocorticoid administration.

    Science.gov (United States)

    Starkman, Monica N

    2013-09-01

    This article reviews the neuropsychiatric presentations elicited by spontaneous hypercortisolism and exogenous supraphysiologic glucocorticoids. Patients with Cushing disease and syndrome develop a depressive syndrome: irritable and depressed mood, decreased libido, disrupted sleep and cognitive decrements. Exogenous short-term glucocorticoid administration may elicit a hypomanic syndrome with mood, sleep and cognitive disruptions. Treatment options are discussed. Brain imaging and neuropsychological studies indicate elevated cortisol and other glucocorticoids are especially deleterious to hippocampus and frontal lobe. The research findings also shed light on neuropsychiatric abnormalities in conditions that have substantial subgroups exhibiting elevated and dysregulated cortisol: aging, major depressive disorder and Alzheimer's disease.

  11. Molecular and Clinical Findings in Patients With Knobloch Syndrome

    OpenAIRE

    Hull, S; Arno, G; Ku, C. A.; Z. Ge; Waseem, N.; Chandra, A; Webster, A R; Robson, A.G.; Michaelides, M; Weleber, R.G.; Davagnanam, I.; Chen, R.; Holder, G E; Pennesi, M. E.; Moore, A T

    2016-01-01

    IMPORTANCE: Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele, but it is now known to have an increasingly variable phenotype. There is a lack of reported electrophysiologic data, and some key clinical features have yet to be described. OBJECTIVE: To expand on current clinical, electrophysiologic, and molecular genetic findings in Knobloch syndrome. DESIGN, SETTING AND PARTICIPANTS: Twelve pati...

  12. A new case of Grange syndrome without cardiac findings.

    Science.gov (United States)

    Wallerstein, Robert; Augustyn, Ann Marie; Wallerstein, Donna; Elton, Leslie; Tejeiro, Beatriz; Johnson, Valerie; Lieberman, Kenneth

    2006-06-15

    Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. To date, we know of two reported families with five affected individuals. We report on one of the youngest cases, in a third family, a 3-year-old girl with brachysyndactyly, renal artery stenosis with hypertension, and bone fragility. She does not have apparent cardiac disease, suggesting cardiac anomalies may not be an obligatory finding in this syndrome.

  13. Acquired immunodeficiency syndrome-associated cancers in Sub-Saharan Africa.

    Science.gov (United States)

    Thomas, J O

    2001-04-01

    Sub-Saharan Africa is considered home to more than 60% of all human immunodeficiency virus (HIV) infected cases, with an estimated adult prevalence of 8.0%. It is stated that this region has contributed more than 90% of childhood deaths related to HIV infection and about 93% of childhood acquired immunodeficiency syndrome (AIDS)-related deaths. Although no country in Africa is spared of the infection, the bulk is seen in East and South Africa, with the highest recorded rates of 20% to 50% in Zimbabwe. On the other hand, West Africa is less affected, while countries in Central Africa have relatively stable infection rates. Although infections, especially tuberculosis, have emerged as the most important HIV/AIDS-associated killers in recent times, AIDS-associated malignancies are increasingly identified in the late stages. As a result of incomplete data from African countries, it is unclear whether the epidemiology and risks of these cancers are the same as observed in the developed countries. Since the advent of AIDS, epidemic Kaposi's sarcoma (KS) has become more common in both sexes in Africa, with a dramatic lowering of the male to female ratio from 19:1 to 1.7:1, especially in East Africa. Although there has been a rising trend of AIDS-associated non-Hodgkin's lymphoma (NHL) worldwide, there is an apparently lower risk in Africa compared with that in the developing world. At present, there is no strong evidence linking increased incidence of invasive cervical cancer to the HIV epidemic; however, some studies have demonstrated an association between HIV and the increased prevalence of human papilloma virus (HPV) and cervical intraepithelial neoplasia (CIN). On the other hand, HIV infection is now established as a risk factor for the development of squamous cell neoplasia of the conjunctiva based on studies from Rwanda, Malawi, and Uganda. Despite the problems and limitations of information from sub-Saharan Africa, interesting trends of HIV/AIDS-related cancers

  14. Identification of a mutation associated with fatal Foal Immunodeficiency Syndrome in the Fell and Dales pony.

    Directory of Open Access Journals (Sweden)

    Laura Y Fox-Clipsham

    2011-07-01

    Full Text Available The Fell and Dales are rare native UK pony breeds at risk due to falling numbers, in-breeding, and inherited disease. Specifically, the lethal Mendelian recessive disease Foal Immunodeficiency Syndrome (FIS, which manifests as B-lymphocyte immunodeficiency and progressive anemia, is a substantial threat. A significant percentage (∼10% of the Fell ponies born each year dies from FIS, compromising the long-term survival of this breed. Moreover, the likely spread of FIS into other breeds is of major concern. Indeed, FIS was identified in the Dales pony, a related breed, during the course of this work. Using a stepwise approach comprising linkage and homozygosity mapping followed by haplotype analysis, we mapped the mutation using 14 FIS-affected, 17 obligate carriers, and 10 adults of unknown carrier status to a ∼1 Mb region (29.8 - 30.8 Mb on chromosome (ECA 26. A subsequent genome-wide association study identified two SNPs on ECA26 that showed genome-wide significance after Bonferroni correction for multiple testing: BIEC2-692674 at 29.804 Mb and BIEC2-693138 at 32.19 Mb. The associated region spanned 2.6 Mb from ∼29.6 Mb to 32.2 Mb on ECA26. Re-sequencing of this region identified a mutation in the sodium/myo-inositol cotransporter gene (SLC5A3; this causes a P446L substitution in the protein. This gene plays a crucial role in the regulatory response to osmotic stress that is essential in many tissues including lymphoid tissues and during early embryonic development. We propose that the amino acid substitution we identify here alters the function of SLC5A3, leading to erythropoiesis failure and compromise of the immune system. FIS is of significant biological interest as it is unique and is caused by a gene not previously associated with a mammalian disease. Having identified the associated gene, we are now able to eradicate FIS from equine populations by informed selective breeding.

  15. Cryptococcal meningoencephalitis in human immunodeficiency virus/acquired immunodeficiency syndrome in douala, cameroon: A cross sectional study

    Directory of Open Access Journals (Sweden)

    Henry Namme Luma

    2013-01-01

    Full Text Available Background: Cryptococcal meningoencephalitis (CM kills about half a million human immunodeficiency virus (HIV patients per year, mostly in Africa. Aim: The aim of this study was to determine the prevalence, clinical presentation and in-hospital outcome of CM among HIV-infected patients in Douala. Materials and Methods: A cross-sectional clinical note review of 672 HIV-1 patients′ files admitted from January 1 st 2004 to December 31 st 2009 at the Internal Medicine unit of the Douala General Hospital, Cameroon was performed. Only patients diagnosed of CM by microscopy of Indian ink stained cerebrospinal fluid (CSF were studied. Results: The prevalence of CM in the study was 11.2%. Mean age of patients was 36.9 ΁ 12.7 years. Median cluster of differentiation 4 (CD4 cell count was 23 cells/μL, (interquartile range [IQR]: 10-61 and 62.7% of CD4 cell counts were <50 cells/μL. The most prevalent symptom was headache in 97.3% of patients. In CSF, median proteins was 0.9 g/L (IQR: 0.6-1; median glucose 0.2 g/L (IQR: 0.1-0.3 and median leucocyte count 54 cells/μL (IQR: 34-76 mostly of mixed cellularity. The case fatality rate was 52% and low CD4 cell count was strongly associated with death, odd ratio 4.6 (95% confidence interval: 2.6-8.0, P < 0.001. Conclusion: The high case fatality of CM in Douala warrants adequate diagnostic measures and optimization of standardized treatment to reduce mortality.

  16. The Doha declaration in action: An examination of patent law flexibilities in the South African acquired immunodeficiency syndrome epidemic

    Directory of Open Access Journals (Sweden)

    Sophie Huddart

    2017-01-01

    Full Text Available Patent law flexibilities outlined in the Trade-related Aspects of Intellectual Property Rights agreement make it possible for low-income nations to provide affordable essential medicine during health crises. During the rise of the human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS epidemic in South Africa, multinational pharmaceutical companies challenged the implementation of these flexibilities. In response to this lawsuit, the World Trade Organization enacted the Doha Declaration, an affirmation of the right of low-income nations to import and produce generic versions of patented essential medicines. This case study assesses the Doha Declaration's impact on access to HIV/AIDS treatment in South Africa by examining drug pricing, antiretroviral treatment coverage and drug licensing fees. The declaration ultimately contributed to the decrease in HIV/AIDS treatment costs and the subsequent increase in availability and affordability of life-saving drug regimens.

  17. The neuroradiological findings in a case of Revesz syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Scheinfeld, Meir H. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Radiology, Bronx, NY (United States); Montefiore Medical Center, Department of Radiology, Bronx, NY (United States); Lui, Yvonne W.; Gomes, William A.; Bello, Jacqueline A. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Radiology, Bronx, NY (United States); Kolb, Edward A. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Pediatrics, The Children' s Hospital at Montefiore, Bronx, NY (United States); Engel, Harry M. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Ophthalmology, Bronx, NY (United States); Weidenheim, Karen M. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Pathology, Bronx, NY (United States)

    2007-11-15

    Revesz syndrome is a variant of dyskeratosis congenita characterized by aplastic anemia, retinopathy, and central nervous system abnormalities. We describe a 3-year-old boy in whom the spectrum of neuroimaging findings, including intracranial calcifications, cerebellar hypoplasia and unusual brain lesions were found by biopsy to be gliosis despite their enhancement and progression. In patients with dyskeratosis-related syndromes, non-neoplastic parenchymal brain lesions occur and gliosis should be considered in the differential diagnosis for progressive enhancing brain lesions. Should this finding be confirmed consistently in additional cases, brain biopsy could potentially be avoided. (orig.)

  18. Infecção pulmonar pelo Rhodococcus equi na síndrome da imunodeficiência adquirida: Aspectos na tomografia computadorizada Rhodococcus equi infection in acquired immunodeficiency syndrome: Computed tomography aspects

    Directory of Open Access Journals (Sweden)

    Edson Marchiori

    2006-10-01

    Full Text Available OBJETIVO: Apresentar os aspectos na tomografia computadorizada da pneumonia pelo Rhodococcus equi em sete pacientes com síndrome da imunodeficiência adquirida. MÉTODOS: Estudo retrospectivo das tomografias de sete pacientes com síndrome da imunodeficiência adquirida e infecção pelo Rhodococcus equi. RESULTADOS: Os achados mais freqüentes foram: consolidação (n = 7 com escavação (n = 6, opacidades em vidro fosco (n = 6, nódulos do espaço aéreo (n = 4 e nódulos centrolobulares com árvore em brotamento (n = 3. CONCLUSÃO: Os achados mais comuns na infecção pulmonar pelo Rhodococcus equi em pacientes com síndrome da imunodeficiência adquirida foram as consolidações escavadas.OBJECTIVE: To present the computed tomography aspects of Rhodococcus equi pneumonia in seven patients with acquired immunodeficiency syndrome. METHODS: A retrospective study of the computed tomography scans of seven patients with acquired immunodeficiency syndrome and Rhodococcus equi infection. RESULTS: The most common findings were consolidation (n = 7, consolidation with cavitation (n = 6, ground glass opacities (n = 6, peribronchial nodules (n = 4 and centrilobular nodules presenting a "tree-in-bud" pattern (n = 3. CONCLUSION: The most common finding in patients with Rhodococcus equi pulmonary infection and acquired immunodeficiency syndrome was consolidation with cavitation.

  19. Neuropsychological findings associated with Panayiotopoulos syndrome in three children.

    Science.gov (United States)

    Hodges, Samantha L; Gabriel, Marsha T; Perry, M Scott

    2016-01-01

    Panayiotopoulos syndrome is a common idiopathic benign epilepsy that has a peak age of onset in early childhood. The syndrome is multifocal and shows significant electroencephalogram (EEG) variability, with occipital predominance. Although a benign syndrome often refers to the absence of neurological and neuropsychological deficits, the syndrome has recently been associated with cognitive impairments. Also, despite frequent occipital EEG abnormalities, research regarding the visual functioning of patients is less reported and often contradictory. The purpose of this study was to gain additional knowledge regarding the neurocognitive functioning of patients with Panayiotopoulos syndrome and specifically to address any visual processing deficits associated with the syndrome. Following diagnosis of the syndrome based on typical clinical and electrophysiological criteria, three patients, aged 5, 8, and 10years were referred by epileptologists for neuropsychological evaluation. Neuropsychological findings suggest that the patients had notable impairments on visual memory tasks, especially in comparison with verbal memory. Further, they demonstrated increased difficulty on picture memory suggesting difficulty retaining information from a crowded visual field. Two of the three patients showed weakness in visual processing speed, which may account for weaker retention of complex visual stimuli. Abilities involving attention were normal for all patients, suggesting that inattention is not responsible for these visual deficits. Academically, the patients were weak in numerical operations and spelling, which both rely partially on visual memory and may affect achievement in these areas. Overall, the results suggest that patients with Panayiotopoulos syndrome may have visual processing and visual memory problems that could potentially affect their academic capabilities. Identifying such difficulties may be helpful in creating educational and remedial assistance programs for

  20. Estimation of CD4+ and CD8+ T-lymphocytes in human immunodeficiency virus infection and acquired immunodeficiency syndrome patients in Manipur

    Directory of Open Access Journals (Sweden)

    Singh H

    2007-01-01

    Full Text Available Purpose : To estimate and stratify CD4 + and CD8 + T-lymphocyte levels in human immunodeficiency virus (HIV infected (asymptomatic and acquired immunodeficiency syndrome (AIDS patients (symptomatic and correlate the clinical features of the patients with CD4+ and CD8+ lymphocyte level. Methods : Between April 2002 and September 2003, a total of 415 HIV seropositive adult patients (297 males and 118 females attending Regional Institute of Medical Sciences (RIMS hospitals were tested for CD4+ and CD8+ T-lymphocytes by fluorescent activated cell sorter (FACS counter (Becton Dickinson. Symptomatic patients were diagnosed as per NACO clinical case definition. Results : Ranges of 0-50, 51-100, 101-200, 201-300, 301-400, 401-500 and above 500 CD4+ T-lymphocyte per microlitre were seen in 68, 52, 101, 73, 47, 31 and 43 patients respectively whereas CD8+ T-lymphocyte ranges of 0-300, 301-600, 601-900, 901-1500, 1501-2000, 2001-3500 per microlitre were seen in 29, 84, 92, 145, 40 and 25 patients respectively. One hundred and fifty patients were asymptomatic and 265 were symptomatic. CD4/CD8 ratio in asymptomatics and symptomatics were 0.13-1.69 and 0.01-0.93 respectively. Tuberculosis and candidiasis occurred in CD4+ T-lymphocyte categories between 0-400 cells per mL in symptomatics. However, cryptosporidiosis, toxoplasmosis, herpes zoster, cryptococcal meningitis, Pneumocystis carinii pneumonia, penicilliosis and cytomegalovirus retinitis were seen in patients having CD4+ T-lymphocyte less than 200 per mL. Conclusions : CD4+ T-lymphocyte was decreased in both asymptomatic and symptomatic HIV patients, The decrease was greater in symptomatics while CD8+ T-lymphocyte was increased in both except advanced stage symptomatics. CD4:CD8 ratio was reversed in both groups. Opportunistic infections correlated with different CD4+ T-lymphocyte categories.

  1. Epidemiology and clinical parameters of adult human immunodeficiency virus/acquired immunodeficiency syndrome at the initiation of antiretroviral therapy in South eastern Nigeria.

    Science.gov (United States)

    Eleje, Gu; Ele, Pu; Okocha, Ec; Iloduba, Uc

    2014-03-01

    Human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) has continued to ravage the teeming populations in Nigeria, with disastrous consequences. Despite many studies and progress on HIV/AIDS in Africa, the data on the status of the patients at the commencement of therapy is lacking. The aim of this study is to determine the demographic, clinical and some laboratory features of adult HIV/AIDS patients, seen at the commencement of antiretroviral therapy (ART) in Nnamdi Azikiwe University Teaching Hospital, Nnewi, south-east Nigeria between July 2002 and October 2004. The study was a cross-sectional, descriptive study. Adult patients living with HIV/AIDS were studied using an interview administered questionnaire. Data was analyzed using Epi Info 2008 version 3.5.1. A total of 400 respondents participated in this study. The mean age was 36.8 (8.8) years. Almost 60% patients were married and the HIV concordance rate was 53.3% (136/255). Nearly 30% of the families had at least one child positive for HIV. The most common associated risky behavior was injection administered in patent medicine stores 74.5%(302/400) and the most common clinical symptom was respiratory. Of the 400 patients recruited in this study, 19 (4.8%) were lost to follow-up on the 6 months' visit, giving a follow-up rate of 95.2% (381/400). There was statistically significant difference in the mean body weight (P = 0.02), mean total white blood cell count (P HIV/AIDS patients present late and body weight, CD4(+) count and total white blood cell count seemed to recover quickly on commencement of ART. The prevalence of concordance among couples and mother to child transmission rates tended to be high. Administration of injectable at patent medicine stores and multiple sexual partners are the most significant risk factors.

  2. Food Security in Households of People Living With Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome: A Cross-sectional Study in a Subdivision of Darjeeling District, West Bengal.

    Science.gov (United States)

    Dasgupta, Pallabi; Bhattacherjee, Sharmistha; Das, Dilip Kumar

    2016-07-01

    Human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) adversely impacts food security in households of people living with HIV/AIDS (PLWHA). Little research has focused on food insecurity among PLWHA in India. The purpose of this study was to identify the prevalence of and factors relating to food security in households of PLWHA in the Siliguri subdivision of Darjeeling, West Bengal, India. A cross-sectional community-based study was carried out among 173 PLWHA residing in Siliguri and registered at the Anti-retroviral Therapy Centre of North Bengal Medical College & Hospital. Data was collected at the household level with interviews of PLWHA using a food security survey instrument. We analyzed the associations using logistic regression. The prevalence of household food security among the participants was 50.9% (88/173). Five years or more of schooling, higher socioeconomic class and males were found to be significantly associated with a higher likelihood of food security. A later stage of the disease and the presence of other family members with HIV/AIDS were significantly associated with a lower likelihood of food security. The major coping strategies to deal with food insecurity in the acute phase HIV infection included borrowing money (56.1%), followed by spousal support, loans from microfinance institutions, banks, or money lenders, borrowing food, or selling agricultural products. The present study revealed that only about half of households with PLWHA were food secure. Prior interventions relating to periods of food and economic crisis as well as strategies for sustaining food security and economic status are needed in this area.

  3. Novel clinical finding in MECP2 duplication syndrome

    OpenAIRE

    Budisteanu, Magdalena; Papuc, Sorina Mihaela; Tutulan-Cunita, Andreea; Budisteanu, Bogdan; Arghir, Aurora

    2011-01-01

    Novel clinical finding in MECP2 duplication syndrome phone: +40-213349068 (Budisteanu, Magdalena) (Budisteanu, Magdalena) ?Victor Babes? National Institute of Pathology - 99-101 Splaiul Independentei, Sect. 5 - 050096 - Bucharest - ROMANIA (Budisteanu, Magdalena) ?Prof. Dr. Alexandru Obregia? Clinical Hospital of Psychiatry - 10-12 Berceni Av., Sector 4 - 041914 - Bucharest - ROMANIA (Budisteanu, Magdalena) ?Victor Babes? National Institute of Patholog...

  4. Basal cell naevus syndrome - radiographic findings in the skull

    Energy Technology Data Exchange (ETDEWEB)

    Stoll, P.; Dueker, J.; Weingart, D.

    1986-09-01

    Besides uni- and multiocular jaw cysts the Gorlin Goltz syndrome shows other characteristic radiographic findings which help to ensure diagnosis. These are particularly calcification of the falx cerebri and a so called ''bridging'' between processus clinoideus anterior and posterior of the sella turcica. The importance of early diagnosis is stressed.

  5. [CT findings of the temporal bones in Waardenburg's syndrome].

    Science.gov (United States)

    Irie, K; Ogata, H; Mitsudome, A

    1990-05-01

    We reported three cases of Waardenburg's syndrome and discussed CT findings of the temporal bones. Two cases of these patients were mother and daughter. Case 1, a two-year-old girl, had lateral displacement of the medial canthi, a broad nasal root, hetero-chromic iridis, left ptosis, albinotic fundus, and bilateral congenital deafness. CT findings of the temporal bones showed enlarged vestibules, short lateral semicircular canal, and absent right posterior semicircular canal. The mother had congenital deafness, heterochromia iridis, and a white forelock and showed similar abnormal CT findings of the temporal bones. Case 2, a one-year-old boy, had lateral displacement of the medial canthi, a broad nasal root, partial heterochromia iridis, albinotic fundus, and bilateral congenital deafness. CT findings of the temporal bones showed enlarged vestibules and absence of semicircular canals except the right lateral semicircular canal. These cases were diagnosed as Waardenburg's syndrome on the basis of the characteristic features.

  6. Spectrum of Adrenal Dysfunction in Patients with Acquired Immunodeficiency Syndrome Evaluation of Adrenal and Pituitary Reserve with ACTH and Corticotropin-Releasing Hormone Testing.

    Science.gov (United States)

    Freda, P U; Papadopoulos, A D; Wardlaw, S L; Goland, R S

    1997-07-01

    Patients with acquired immunodeficiency syndrome (AIDS) have been reported to develop abnormalities of the endocrine system and in particular of the hypothalamic-pituitary-adrenal (HPA) axis. To define the abnormalities of HPA function in AIDS patients better, we performed ACTH and ovine corticotropin-releasing hormone (oCRH) testing in a group of AIDS patients and oCRH testing in a group of healthy subjects. Our study found that in AIDS patients with normal ACTH testing, oCRH testing revealed a variety of subclinical abnormalities of ACTH and cortisol responses. Although we did not find frank adrenal insufficiency in any of these AIDS patients, it remains to be determined if any of the subclinical abnormalities we identified are predictive of clinically significant adrenal insufficiency; it may be that as AIDS patients live longer, the subclinical abnormalities will progress to adrenal insufficiency. (Trends Endocrinol Metab 1997;8:173-180). (c) 1997, Elsevier Science Inc.

  7. Acquired immunodeficiency syndrome and adolescents. Knowledge, attitudes, and behaviors of runaway and homeless youths.

    Science.gov (United States)

    Sugerman, S T; Hergenroeder, A C; Chacko, M R; Parcel, G S

    1991-04-01

    To describe the knowledge, attitudes, and behaviors of runaway and homeless youths regarding infection with the human immunodeficiency virus (HIV). Cross-sectional, descriptive. A crisis shelter for runaway and homeless youths. One hundred one residents, aged 13 to 20 years, of a shelter for homeless and runaway youths in Houston, Tex. None. A self-administered questionnaire was used to examine the knowledge, attitudes, and behaviors of these youths regarding infection with HIV. Nearly one fourth had injected illegal drugs; one fifth had shared needles for other purposes. Sixteen percent had had anal intercourse, 19% had engaged in prostitution, and 67% of all subjects reported having four or more sexual partners. One fifth reported that they always use condoms. While quite knowledgeable about means of transmission, they held prevalent misconceptions about casual contact and risk reduction. Youths perceive few barriers to condom use, have fairly high intentions to practice preventive behavior, and have high self-efficacy to do so. Most believe they are at little or no risk for acquiring HIV. These findings support the need for medical, educational, and social service programs to reduce the risk of HIV among these youths. Runaway and homeless youths practice behaviors that place them at high risk for acquisition of HIV infection. Risk reduction is imperative and will require programs that address the educational, psychological, social, and medical needs of these youths.

  8. MR Imaging Findings in Xp21.2 Duplication Syndrome

    Science.gov (United States)

    Whitehead, Matthew T; Helman, Guy; Gropman, Andrea L

    2016-01-01

    Xp21.2 duplication syndrome is a rare genetic disorder of undetermined prevalence and clinical relevance. As the use of chromosomal microarray has become first line for the work-up of childhood developmental delay, more gene deletions and duplications have been recognized. To the best of our knowledge, the imaging findings of Xp21.2 duplication syndrome have not been reported. We report a case of a 33 month-old male referred for developmental delay that was found to have an Xp21.2 duplication containing IL1RAPL1 and multiple midline brain malformations.

  9. MELAS syndrome: neuroradiological findings; Sindrome MELAS: hallazgos neurorradiologicos

    Energy Technology Data Exchange (ETDEWEB)

    Cano, A.; Romero, A. I.; Bravo, F.; Vida, J. M.; Espejo, S. [Hospital Universitario Reina Sofia. Cordoba (Spain)

    2002-07-01

    To assess the computed tomography (CT) and magnetic resonance (MR) findings in MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) and their contribution to the diagnosis of this entity. We present three patients in which a diagnosis of MELAS syndrome was confirmed by muscle biopsy. CT revealed pathological findings in two patients: bilateral calcifications in the basal nuclei in one and low-attenuation lesions in occipital lobes in the other. Initial or follow-up MR demonstrated pathological findings highly suggestive of MELAS syndrome in all the patients. They consisted of hyperintense lesions in T2-weighted images, located predominantly in the cortex of occipital and parietal lobes. Cerebellar atrophy was also observed in two patients. The clinical signs varied, but epileptic seizures, headache, vomiting, ataxia, muscle weakness and pyramidal involvement were among the major ones. Only one patient presented high lactic acid levels, and in two, the initial muscle biopsy was not conclusive enough to provide the definitive diagnosis. CT and, especially, MR are useful tools in the diagnosis of MELAS syndrome, particularly in those cases in which initial negative laboratory and histological results make diagnosis difficult. (Author) 21 refs.

  10. Cytogenetics findings at Turner Syndrome and their correlation with clinical findings.

    Science.gov (United States)

    Catović, Amra

    2005-08-01

    Turner Syndrome is a genetic condition in females that results from an abnormal chromosome. One of the X chromosomes is missing or misshapen in the most cells of the body. Three classics clinical symptoms of the syndrome are: incomplete sexual maturation, short stature and pterygium colli. Turner Syndrome is diagnosed by karyotyping. In the retrospective study for a twelve years period (1991-2002) correlation between clinical and cytogenetics findings was established in our Center among 47 examinees from all parts of Federation of Bosnia and Herzegovina, who had suspect clinical diagnosis of Turner Syndrome. The syndrome was demonstrated by cytogenetics examinations in 30(63,8%) examinees and excluded in 17 (36,2%) examinees. The most frequent karyotype is monosomy of X chromosome (45,X) found at 63,3%, than isochromosome of Xq (46,XisoXq) found at 16,7%, mosaic form (46,XX/45,X) and deletion of Xp (46,XdelXp) both at 6,7%, than deletion of Xq (46,XdelXq) and ring of Xp (46,XX/46,XringXp) both at 3,3%. Our results suggest that promptly and exactly diagnosis of Turner syndrome is very important due to introducing growth hormone therapy and estrogen therapy at a very young age.

  11. Validation of case-finding algorithms derived from administrative data for identifying adults living with human immunodeficiency virus infection.

    Directory of Open Access Journals (Sweden)

    Tony Antoniou

    Full Text Available OBJECTIVE: We sought to validate a case-finding algorithm for human immunodeficiency virus (HIV infection using administrative health databases in Ontario, Canada. METHODS: We constructed 48 case-finding algorithms using combinations of physician billing claims, hospital and emergency room separations and prescription drug claims. We determined the test characteristics of each algorithm over various time frames for identifying HIV infection, using data abstracted from the charts of 2,040 randomly selected patients receiving care at two medical practices in Toronto, Ontario as the reference standard. RESULTS: With the exception of algorithms using only a single physician claim, the specificity of all algorithms exceeded 99%. An algorithm consisting of three physician claims over a three year period had a sensitivity and specificity of 96.2% (95% CI 95.2%-97.9% and 99.6% (95% CI 99.1%-99.8%, respectively. Application of the algorithm to the province of Ontario identified 12,179 HIV-infected patients in care for the period spanning April 1, 2007 to March 31, 2009. CONCLUSIONS: Case-finding algorithms generated from administrative data can accurately identify adults living with HIV. A relatively simple "3 claims in 3 years" definition can be used for assembling a population-based cohort and facilitating future research examining trends in health service use and outcomes among HIV-infected adults in Ontario.

  12. Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome

    Science.gov (United States)

    Goswami, Mridula; Verma, Mahesh

    2016-01-01

    Joubert syndrome (JS) is a very rare autosomal recessive disorder, involving agenesis or dysgenesis of cerebellar vermis and brain stem. The neurological features of JS include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. These may be associated with multiorgan involvement, mainly retinal dystrophy, nephronophthisis, hepatic fibrosis, and polydactyly. An obligatory hallmark feature associated with JS is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging. This case report presents a pediatric case of JS in a 7-year-old girl. Joubert syndrome cases have been reported by various medical specialties in medical journals; however, this probably could be the first report of this rare developmental disorder in dental and oral health. How to cite this article Goswami M, Rajwar AS, Verma M. Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome. Int J Clin Pediatr Dent 2016;9(4):379-383. PMID:28127172

  13. Meckel Syndrome: Genetics, Perinatal Findings, and Differential Diagnosis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-03-01

    Full Text Available Meckel syndrome (MKS is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e., MKS1 on 17q23, MKS2 on 11q13, and MKS3 on 8q21.13-q22.1. MKS1 encodes a component of flagellar apparatus basal body proteome, which is associated with ciliary function. MKS3 encodes a seven-transmembrane receptor protein, meckelin. The identification of the MKS3 gene as well as the MKS1 gene enables molecular genetic testing for at-risk families, and allows accurate genetic counseling, carrier testing, and prenatal diagnosis. Pregnancies with MKS fetuses may be associated with an elevated maternal serum α-fetoprotein level and an abnormal screening result in the second-trimester maternal serum screening test. The classic MKS triad of occipital encephalocele, postaxial polydactyly, and bilateral enlarged multicystic kidneys can be diagnosed before the 14th gestational weeks by ultrasonography. However, later in pregnancy, severe oligohydramnios may make the diagnosis of polydactyly and encephalocele difficult. Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1. This article provides an overview of genetics, perinatal findings, and differential diagnosis of MKS. The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly.

  14. A controlled study of funding for human immunodeficiency virus/acquired immunodeficiency syndrome as resource capacity building in the health system in Rwanda.

    Science.gov (United States)

    Shepard, Donald S; Zeng, Wu; Amico, Peter; Rwiyereka, Angelique K; Avila-Figueroa, Carlos

    2012-05-01

    Because human inmmunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) receives more donor funding globally than that for all other diseases combined, some critics allege this support undermines general health care. This empirical study evaluates the impact of HIV/AIDS funding on the primary health care system in Rwanda. Using a quasi-experimental design, we randomly selected 25 rural health centers (HCs) that started comprehensive HIV/AIDS services from 2002 through 2006 as the intervention group. Matched HCs with no HIV/AIDS services formed the control group. The analysis compared growth in inputs and services between intervention and control HCs with a difference-in-difference analysis in a random-effects model. Intervention HCs performed better than control HCs in most services (seven of nine), although only one of these improvements (Bacille Calmette-Guérin vaccination) reached or approached statistical significance. In conclusion, this six-year controlled study found no adverse effects of the expansion of HIV/AIDS services on non-HIV services among rural health centers in Rwanda.

  15. Atypical Findings of Guillain-Barré Syndrome in Children

    Directory of Open Access Journals (Sweden)

    Parvaneh KARIMZADEH

    2013-01-01

    Full Text Available How to cite this article: Karimzadeh P, Bakhshandeh Bali MK, Nasehi MM, Taheri Otaghsara SM, Ghofrani M. Atypical Findings of Guillain-Barré Syndrome in Children. Iran J Child Neurol Autumn 2012;6(4:17-22. AbstractObjectiveGuillain-Barre syndrome (GBS is an immune-mediated polyneuropathy that occurs mostly after  prior infection. The diagnosis of this syndrome is dependent heavily on the history and examination, although cerebrospinal fluid analysis and electrodiagnostic testing usually confirm the diagnosis. This is a retrospective study which was performed to investigate the atypical features of GBS.Materials & MethodsThirty three patients (21/63.6% males and 12/36.4% females with GBS were retrospectively studied and prospectively evaluated at the Child Neurology institute of Mofid Children Hospital of Shahid Beheshti University of Medical Sciences between May 2011 and September 2012.ResultsThe mean age was 5.4 years (range, 1.5-10.5.Twenty one patients (87.9 % had previous history of infections. Eight patients (24.2% admitted with atypical symptoms like upper limb weakness (3%, ptosis (3%, neck stiffness (3%, inability to stand (proximal weakness (9.1%, headache (3% and dysphagia (3%.According to disease process, weakness was ascending in 26 (78.8%, descending in 5 (15.2% and static in 2 (6.1% patients. Cranial nerve involvement was found in 8(24.3% children, most commonly as facial palsy in 3 (9.1%.ConclusionIn this study, 24.3% of our patients presented with atypical symptoms of GBS as upper limb weakness, ptosis, neck stiffness, inability to stand (proximal weakness, headache and dysphagia References:Hughes RA, Cornblath DR. Guillain-Barré syndrome. Lancet. 2005 Nov 5;366(9497:1653-66.McGillicuddy DC, Walker O, Shapiro NI, Edlow JA. Guillain-Barré syndrome in the emergency department. Ann Emerg Med. 2006 Apr;47(4:390-3.Cosi V, Versino M. Guillain-Barré syndrome. Neurol Sci. 2006;27(Suppl 1:S47-51.Hughes RA, Cornblath DR. Guillain

  16. Shwachman-Diamond syndrome: clinical, radiological and sonographic findings

    Energy Technology Data Exchange (ETDEWEB)

    Berrocal, T. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Simon, M.J. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Al-Assir, I. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Prieto, C. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Pastor, I. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Pablo, L. de [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Lama, R. [Servicio de Gastroenterologia, Hospital Infantil `La Paz`, Madrid (Spain)

    1995-07-01

    Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease, which is characterized by metaphyseal chondrodysplasia, neutropenia and exocrine pancreatic insufficiency. It presents with varying extremity shortening, ``cup`` deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, as well as increased echogenicity of the normal-sized pancreas. We discuss the differential diagnosis and review the literature. (orig.)

  17. Hashimoto's Thyroiditis Presenting as Acute Painful Thyroiditis and as a Manifestation of an Immune Reconstitution Inflammatory Syndrome in a Human Immunodeficiency Virus-Seropositive Patient.

    NARCIS (Netherlands)

    Visser, R.; Mast, Q. de; Netea-Maier, R.T.; Ven, A.J.A.M. van der

    2012-01-01

    Background: An immune reconstitution inflammatory syndrome (IRIS) may complicate immune restoration following start of antiretroviral therapy (ART) in human immunodeficiency virus (HIV)-infected patients. The occurrence of Graves' disease in the setting of an IRIS is well recognized. We hereby

  18. Hashimoto's Thyroiditis Presenting as Acute Painful Thyroiditis and as a Manifestation of an Immune Reconstitution Inflammatory Syndrome in a Human Immunodeficiency Virus-Seropositive Patient.

    NARCIS (Netherlands)

    Visser, R.; Mast, Q. de; Netea-Maier, R.T.; Ven, A.J.A.M. van der

    2012-01-01

    Background: An immune reconstitution inflammatory syndrome (IRIS) may complicate immune restoration following start of antiretroviral therapy (ART) in human immunodeficiency virus (HIV)-infected patients. The occurrence of Graves' disease in the setting of an IRIS is well recognized. We hereby repor

  19. MRI findings of muscle involvement in idiopathic hypereosinophilic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    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.

  20. CT scan findings of patients with Rett syndrome

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    Suzuki, Hisaharu; Takanashi, Aiko; Hirayama, Yoshito; Sakuragawa, Norio; Arima, Masataka; Tateno, Akihiko; Koide, Hiroyoshi.

    1989-05-01

    CT findings and clinical features were analyzed in 16 female patients with Rett syndrome, whose ages were between 4 and 20. Fifteen patients had microcrania. Twelve patients were able to stand and run; however, the remaining 4 patients had the only ability to sit. CT revealed an atrophy of the ponse and various degrees of dilatation in the Silvian fissure, frontal sulcus, and space between the cranium and the frontal polar lobe. An atrophy in the frontal lobe, cerebral cortex surrounding the Silvian fissure, and white matter directly below the cortex seemed to have an important role in the occurrence of this syndrome. There was, however, no definitive correlation between the degree of atrophy and both the patient's age and motor function. Serial CT scannings with clinical process are required. (Namekawa, K).

  1. Progression of CT scan findings in Rett syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Suzuki, Hisaharu; Hirayama, Yoshito; Sakuragawa, Norio; Arima, Masataka (National Center of Neurology and Psychiatry, Kodaira, Tokyo (Japan))

    1989-07-01

    Progression of the lesions revealed by CT scan was observed in five girls with Rett syndrome. The most distinct and common finding was progressive dilatation of Sylvian fissures, frontal extracerebral space, interhemispheric fissure, and sulci mainly in frontal lobe. It may indicate progressive lesion in the frontal and the temporal lobes. In addition, dilatation of the anterior horns of the lateral ventricles and the third ventricle was noted in some cases. Brainstem and cerebellum were small at any age with some morphological development as the patients became elder. Neither malformations nor abnormalities in density were found in any case. It is concluded that the main lesion of Rett syndrome on CT scan is progressive and localized in the frontal and the temporal lobes. (author).

  2. Early electrophysiological findings in Fisher-Bickerstaff syndrome.

    Science.gov (United States)

    Alberti, M A; Povedano, M; Montero, J; Casasnovas, C

    2017-09-06

    The term Fisher-Bickerstaff syndrome (FBS) has been proposed to describe the clinical spectrum encompassing Miller-Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis. The pathophysiology of FBS and the nature of the underlying neuropathy (demyelinating or axonal) are still subject to debate. This study describes the main findings of an early neurophysiological study on 12 patients diagnosed with FBS. Retrospective evaluation of clinical characteristics and electrophysiological findings of 12 patients with FBS seen in our neurology department within 10 days of disease onset. Follow-up electrophysiological studies were also evaluated, where available. The most frequent electrophysiological finding, present in 5 (42%) patients, was reduced sensory nerve action potential (SNAP) amplitude in one or more nerves. Abnormalities were rarely found in motor neurography, with no signs of demyelination. The cranial nerve exam revealed abnormalities in 3 patients (facial neurography and/or blink reflex test). Three patients showed resolution of SNAP amplitude reduction in serial neurophysiological studies, suggesting the presence of reversible sensory nerve conduction block. Results from cranial MRI scans were normal in all patients. An electrophysiological pattern of sensory axonal neuropathy, with no associated signs of demyelination, is an early finding of FBS. Early neurophysiological evaluation and follow-up are essential for diagnosing patients with FBS. Copyright © 2017 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  3. Reproductive aspects and knowledge of family planning among women with Acquired Immunodeficiency Syndrome.

    Science.gov (United States)

    Lima, Ivana Cristina Vieira de; Cunha, Maria da Conceição Dos Santos Oliveira; Cunha, Gilmara Holanda da; Galvão, Marli Teresinha Gimeniz

    2017-05-25

    To analyze the reproductive aspects and knowledge of family planning among women with Acquired Immunodeficiency Syndrome (AIDS). Cross-sectional and descriptive study carried out from January to December, 2015, in the outpatient care of infectious disease unit in a hospital located in Fortaleza, Ceará. Data were collected through a form applied by interview in a private setting. 102 women participated in the study. Most were aware that they were serologically positive with human immunodeficiency virus (HIV) during prenatal care (96.1%) and did not intend to have more children (63.7%). Women who were less than 39 years of age, had a higher educational level, and a shorter time of antiretroviral therapy had better chances of having children (p≤0.05). Having a steady partner increased the chance of desiring to have children, while tubal ligation was higher among women that did not receive counseling on family planning. Knowledge of family planning was limited because of lack of assistance provided by health professionals. Analisar aspectos reprodutivos e conhecimento sobre planejamento familiar de mulheres com síndrome da imunodeficiência adquirida (Aids). Estudo transversal, descritivo, realizado de janeiro a dezembro de 2015, no ambulatório de infectologia de um hospital em Fortaleza, Ceará. Os dados foram coletados por meio de formulário, aplicado por entrevista em ambiente privativo. Participaram do estudo 102 mulheres. A maioria delas teve conhecimento da sorologia positiva para vírus da imunodeficiência humana (HIV) durante o pré-natal (96,1%), e estas não pretendiam mais ter filhos (63,7%). Mulheres com idade menor que 39 anos, maior escolaridade e menor tempo de terapia antirretroviral tiveram maiores chances de ter filhos (p≤0,05). Mulheres com idade menor que 39 anos e maior escolaridade tiveram maiores chances de ter informações corretas sobre ter filhos na vigência do HIV (p≤0,05). Ter parceiro fixo aumentou a chance de desejar ter

  4. Correlation of MRI findings with clinical findings of trochanteric pain syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Blankenbaker, Donna G.; Ullrick, Steven R.; Davis, Kirkland W.; De Smet, Arthur A. [University of Wisconsin School of Medicine and Public Health, Department of Radiology, Madison, WI (United States); Haaland, Ben; Fine, Jason P. [University of Wisconsin School of Medicine and Public Health, Departments of Biostatistics and Medical Informatics and Statistics, Madison, WI (United States)

    2008-10-15

    Greater trochanter pain syndrome due to tendinopathy or bursitis is a common cause of hip pain. The previously reported magnetic resonance (MR) findings of trochanteric tendinopathy and bursitis are peritrochanteric fluid and abductor tendon abnormality. We have often noted peritrochanteric high T2 signal in patients without trochanteric symptoms. The purpose of this study was to determine whether the MR findings of peritrochanteric fluid or hip abductor tendon pathology correlate with trochanteric pain. We retrospectively reviewed 131 consecutive MR examinations of the pelvis (256 hips) for T2 peritrochanteric signal and abductor tendon abnormalities without knowledge of the clinical symptoms. Any T2 peritrochanteric abnormality was characterized by size as tiny, small, medium, or large; by morphology as feathery, crescentic, or round; and by location as bursal or intratendinous. The clinical symptoms of hip pain and trochanteric pain were compared to the MR findings on coronal, sagittal, and axial T2 sequences using chi-square or Fisher's exact test with significance assigned as p<0.05. Clinical symptoms of trochanteric pain syndrome were present in only 16 of the 256 hips. All 16 hips with trochanteric pain and 212 (88%) of 240 without trochanteric pain had peritrochanteric abnormalities (p=0.15). Eighty-eight percent of hips with trochanteric symptoms had gluteus tendinopathy while 50% of those without symptoms had such findings (p=0.004). Other than tendinopathy, there was no statistically significant difference between hips with or without trochanteric symptoms and the presence of peritrochanteric T2 abnormality, its size or shape, and the presence of gluteus medius or minimus partial thickness tears. Patients with trochanteric pain syndrome always have peritrochanteric T2 abnormalities and are significantly more likely to have abductor tendinopathy on magnetic resonance imaging (MRI). However, although the absence of peritrochanteric T2 MR abnormalities

  5. The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome.

    Science.gov (United States)

    Ganaiem, Hammam; Eisenstein, Eli M; Tenenbaum, Ariel; Somech, Raz; Simanovsky, Natalia; Roscioli, Tony; Weintraub, Michael; Stepensky, Polina

    2013-05-01

    Veno-occlusive disease with immunodeficiency (VODI) is an autosomal recessive disorder of combined immunodeficiency (CID) and hepatic injury. Hematopoietic stem cell transplantation (HSCT) - the only definitive treatment for CID - appeared to have a high rate of complications in a previous report. In this study, we describe a new group of patients with VODI highlighting further clinical and immunologic aspects of this disease and re-evaluating the effectiveness of HSCT for the treatment of this disorder. Review of clinical data, immunologic features, molecular studies, treatment, and final outcome of eight kindred members with VODI. The patients described had clinical and immunologic findings consistent with VODI. The molecular studies revealed a new mutation in the SP110 gene. HSCT was carried out in five patients and was successful in three. The diagnosis of VODI should be considered in all patients regardless of ethnicity with a severe combined immunodeficiency (SCID)-like presentation, especially with a normal mitogen response, or with signs of hepatic injury. VODI is a primary immune deficiency, which can be successfully corrected by bone marrow transplantation if applied early in the course of disease using appropriate conditioning. © 2013 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.

  6. Alterações renais clínico-laboratoriais em pacientes com a síndrome da imunodeficiência adquirida em relação aos achados anatomopatológicos Clinical and laboratory renal alterations in patients with acquired immunodeficiency syndrome in relation to natomopathological findings

    Directory of Open Access Journals (Sweden)

    Victor Alberto Laguna-Torres

    2000-04-01

    Full Text Available Foram estudadas as alterações renais, tanto clínicas como anatomopatológicas, em 119 indivíduos com a síndrome da imunodeficiência adquirida no Hospital Escola da Faculdade de Medicina do Triângulo Mineiro, Uberaba, MG. A média das idades foi de 33 ± 10,4 anos (variando de 18 a 67 anos. Predominaram a cor branca (59% e o sexo masculino (80%. Procedência: 90% de Uberaba e região. Havia 59 (50% heterossexuais, 25 (21% homossexuais, 17 (14% bissexuais e 18 (15% sem dados conhecidos. Havia 43% usuários de drogas intravenosas. Catorze (12,2% casos apresentavam creatininemia acima de 3mg/dl nos 10 dias antes do óbito, destes encontrou-se necrose tubular aguda em 64%. Em 71 (61% pacientes encontrou-se hiponatremia e 8 (7% exibiram hipernatremia. Houve 28 (24% com hipocalemia e 8 (7% com hipercalemia. Doze pacientes tinham proteinúria de 24 horas elevada, sendo 7 acima de 1g/24h. Dois pacientes apresentaram glomeruloesclerose segmentar focal, sendo que um deles apresentou proteinúria de 5,5g/24h e creatinemia de 1,5mg/dl, sem edema. Na maioria (56% dos casos, encontrou-se nefrite túbulo-intersticial. As alterações glomerulares foram relativamente raras em tanto que as lesões túbulo-intersticiais foram muito freqüentes, principalmente a nefrite túbulo intersticial e a necrose tubular aguda. Nem sempre se pode observar uma correlação anatomoclínica pois, muitas vezes, a alteração foi predominantemente funcional, especialmente nas hidroeletrolíticas.Clinical as well as renal anatomopathological data of 119 patients with acquired immunodeffiency syndrome from the Hospital of the Faculty of Medicine of Triângulo Mineiro, Uberaba, MG, Brazil, were studied. Mean age was 33 ± 10.4 years (range 18 to 67 years. White (59% and male (80% individuals predominated. Ninety percent of patients came from Uberaba or neighborhood. There were 59 (50% heterosexual, 25 (21% homosexual, 17 (14% bisexual and 18 (15% unknown. Forty three percent

  7. Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome.

    Science.gov (United States)

    Frouin, Eric; Laugel, Vincent; Durand, Myriam; Dollfus, Hélène; Lipsker, Dan

    2013-12-01

    Cockayne syndrome (CS) and cerebro-oculo-facial-skeletal (COFS) syndrome are autosomal recessive diseases that belong to the family of nucleotide excision repair disorders. Our aim was to describe the cutaneous phenotype of patients with these rare diseases. A systematic dermatologic examination of 16 patients included in a European study of CS was performed. The patients were aged 1 to 28 years. Six patients (38%) had mutations in the Cockayne syndrome A (CSA) gene, and the remaining had Cockayne syndrome B (CSB) gene mutations. Fourteen patients were classified clinically as having CS and 2 as having COFS syndrome. Photosensitivity was present in 75% of the patients and was characterized by sunburn after brief sun exposure. Six patients developed symptoms after short sun exposure through a windshield. Six patients had pigmented macules on sun-exposed skin, but none developed a skin neoplasm. Twelve patients (75%) displayed cyanotic acral edema of the extremities. Eight patients had nail dystrophies and 7 had hair anomalies. The dermatologic findings of 16 cases of CS and COFS syndrome highlight the high prevalence of photosensitivity and hair and nail disorders. Cyanotic acral edema was present in 75% of our patients, a finding not previously reported in CS.

  8. Uveodermatologic Syndrome in a Siberian Husky: Clinical and Histopathological Findings

    Directory of Open Access Journals (Sweden)

    Min-Hee Kang

    2014-01-01

    Full Text Available A 2-year-old, intact male Siberian Husky was presented with corneal opacity, eye lid swelling, depigmentation, alopecia and erythema predominantly on face. Bilateral uveitis preceded periocular and nasal planum depigmentation. Ancillary tests excluded other systemic diseases. Histopathology of the skin revealed lichenoid interface dermatitis with pigmentary incontinence. Diffuse pyogranulomatous inflammation of the globes was also noted. Based on the clinical signs and characteristic histopathological findings, the dog was diagnosed as uveodermatologic syndrome (UDS. Further treatment was not attempted in this case and the dog was euthanized. This case report describes typical clinical and histopathologic features of UDS in a Siberian Husky.

  9. A case of overlapping of Sturge Weber syndrome-Klippel Trenaunay syndrome and ophthalmological findings

    Directory of Open Access Journals (Sweden)

    Ersin Aydın

    2016-12-01

    Full Text Available Sturge-Weber syndrome (SWS is a neurocutaneous syndrome characterized by facial port wine stains, vascular lesions in the ipsilateral brain and meninges, and glaucoma. Klippel-Trenaunay syndrome (KTS is a rare congenital malformation associated with cutaneous vascular malformation, bony or soft tissue hypertrophy and venous varicosities in the affected limb. Although some cases have been reported in the literature, an overlap between these two phakomatoses is extremely rare and they have systemic and ocular affects. Here, we present a case showing the properties of both SWS and KTS and having interesting ophthalmological findings. This case is presented to emphasize that eye related complications might also be seen in these syndromes.

  10. An implementation evaluation of a voluntary counselling and testing programme for the human immunodeficiency virus (HIV and acquired immunodeficiency syndrome (AIDS

    Directory of Open Access Journals (Sweden)

    Tarryn N. Anderson

    2012-07-01

    Full Text Available Orientation: Employee wellness programmes have become standard interventions in mostorganisations. In South Africa, these programmes invariably contain an element to addressthe problem of the human immunodeficiency virus (HIV and acquired immunodeficiencysyndrome (AIDS in the workplace.Research purpose: The purpose of this evaluation was to assess whether or not a VoluntaryCounselling and Testing (VCT programme for HIV and AIDS, at a South African university,was implemented as intended.Motivation for the study: The evaluators were motivated to explore indications in the existingliterature about these programmes that participants in VCT programmes are often not theintended target population who live a high risk lifestyle.Research design, approach and method: A descriptive design was used to evaluate serviceutlisation, service delivery and organisational support. Questionnaire data from 285respondents who participated in the programme and programme records supplied by theprogramme staff were consulted to answer the evaluation questions.Main findings: The evaluation showed that the highest uptake for the programme occurredamongst female students. The low uptake amongst men was a concern. It was found that theprogramme was delivered as intended and that there were enough resources to implement itaccording to standards set.Practical/managerial implications: The systematic report on the programme process providedthe programme managers with practical suggestions for programme improvement.Contribution/value-add: This was the first implementation evaluation of a VCT programme ina South African university context. As such it aimed to educate programme managers to thinkevaluatively about introducing new or continuing existing programmes.

  11. Reversible posterior leukoencephalopathy syndrome in children; MR imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Kwon; Kim, Yong Sun [Kyungpook National Univ. Taegu (Korea, Republic of); Kwon, Soon Hak [Ulsan Univ. College of Medicine, Seoul (Korea, Republic of)

    2001-02-01

    To find out the characteristic MR findings of reversible posterior leukoen-cephalopathy syndrome (RPLS) due to various causes in chldren. Eigh children with RPLS underwent MR imaging, and the findings were retrospectively analyzed. All eight were acutely hypertensive at the time of a neurotoxic episode. Three had intra-abdominal tumors (one adrenal pheochromo-cytoma, one para-aortic paraganglioma and one para-aortic ganglioneuroma encasing the left renal artery): three were being treated with cyclosporine: one was being treated with steroid: and one had hemolytric uremic syndrome. Initial cranial MR images were analyzed with particular emphasis on the distribution of the lesions. To assess possible sequelae, follow-up MR images were obtained in seven patients at least one week after the treatment of hypertension. Four underwent proton MR spectroscopy. Characteristic distribution of lesions in the occipital and posterior parietal lobes was identified in all cases regardless of the causes of RPLS. The cerebellum, basal ganglia, anterior parietal, and frontal lobe were involved in four, two, one, and one case, respectively. Cortical gray matter involvement was predominant in six and subcortical white matter involvement predominated in two patients. The distribution of lesions was bilateral and asymmetric. Gyriform enhancement was identified in six cases, and small hemorrhage was noted in one. In seven patients, the clinical and MR findings improved without sequelae on follow-up study. In one, proton MR spectroscopy demonstrated a high lactate peak at the time of the neurologic event. Nearnormal spectra were noted in three children who underwent proton MR spectroscopy after recovery. The MR findings of RPLS are characteristic in that lesions are distributed in the posterior region of the brain and they are reversible on follow-up study. In children with RPLS due to unknown causes, the possibility of intra-abdominal tumors should also be consiodered.

  12. De Novo intracerebral aneurysm in a child with acquired immunodeficiency syndrome

    OpenAIRE

    Bakhaidar, Mohamad G.; Ahamed, Naushad A.; Almekhlafi, Mohammed A; Baeesa, Saleh S

    2015-01-01

    Human immunodeficiency virus (HIV) infection associated aneurysmal vasculopathy is a rare complication of HIV infection affecting the pediatric and adult population. We present a case of a 7-year-old male child known to have a congenitally acquired HIV infection presenting with a ruptured left distal internal carotid artery fusiform aneurysm that was diagnosed on MRI scans 6 months prior to his presentation. He underwent craniotomy and successful aneurysm reconstruction. He had uncomplicated ...

  13. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).

    Science.gov (United States)

    Bree, Alanna F; Grange, Dorothy K; Hicks, M John; Goltz, Robert W

    2016-03-01

    Goltz syndrome, caused by mutations in PORCN, is an X-linked dominant ectodermal dysplasia which is also known as focal dermal hypoplasia. This name is derived from the predominant pathologic skin findings of the syndrome. Nineteen Goltz-affected participants attended a multidisciplinary scientific and clinical conference convened by the National Foundation for Ectodermal Dysplasia which allowed further characterization of the features of this very rare condition. At birth, the affected areas of skin are typically erythematous and fragile. The hallmark cutaneous features, which vary widely due to mosacism and X-inactivation, include the previously described skin changes of asymmetric Blaschko-linear and reticulated atrophy, pigmentary changes, and telangectasias. Lipomatous changes and papillomas as characteristically defined were reported in the majority of patients. A newly recognized skin finding was progressive hyperpigmented freckling that occurred within the hypopigmented areas which were noted to be photosensitive. Many patients also had a pebbly texture to the central face, dorsal hands and feet. Punctate erosions within the atrophic areas and hypohidrosis were also common. Most had patchy alopecia and many had diffusely thin hair. Scanning electron microscopy of the hair shafts revealed abnormalities in the majority of participants with several different features identified, including atrophic hairs with reduced diameters, markedly flattened hairs as noted in cross-sectional views, trichorrhexis nodosa, pili torti, and pili trianguli et canaliculi. Nail changes included V-nicking and longitudinal ridging of the nail plate, in addition to micronychia. Early recognition of the dermatologic features, in addition to the variable but universal limb anomalies, of Goltz syndrome will allow early and accurate diagnosis without the need for extensive diagnostic studies, while also allowing for accurate prognosis and appropriate genetic counseling.

  14. Gestational, perinatal and family findings of patients with Patau syndrome

    Science.gov (United States)

    Rosa, Rafael Fabiano M.; Sarmento, Melina Vaz; Polli, Janaina Borges; Groff, Daniela de Paoli; Petry, Patrícia; de Mattos, Vinícius Freitas; Rosa, Rosana Cardoso M.; Trevisan, Patrícia; Zen, Paulo Ricardo G.

    2013-01-01

    OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant pApgar scores <7 in the 1st (75%) and in the 5th minute (42.9%). About half of them (53%) died during the first month of life. CONCLUSIONS: The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients. PMID:24473950

  15. Primary antiphospholipid antibody syndrome: neuroradiologic findings in 11 patients

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jung Hoon; Choi, Choong Gon; Choi, Soo Jung; Lee, Ho Kyu; Suh, Dae Chul [Ulsan University College of Medicine, Seoul (Korea, Republic of)

    2000-03-01

    To describe the neuroradiologic findings of primary antiphospholipid antibody syndrome (PAPS). During a recent two-year period, abnormally elevated antiphospholipid antibodies were detected in a total of 751 patients. In any cases in which risk factors for stroke were detected - hypertension, diabetes mellitus, hyperlipidemia, smoking, and the presence of SLE or other connective tissue diseases - PAPS was not diagnosed. Neuroradiologic studies were performed in 11 of 32 patients with PAPS. We retrospectively reviewed brain CT (n = 7), MR (n = 8), and cerebral angiography (n = 8) in 11 patients with special attention to the presence of brain parenchymal lesions and cerebral arterial or venous abnormalities. CT or MR findings of PAPS included nonspecific multiple hyper-intensity foci in deep white matter on T2-weighted images (5/11), a large infarct in the territory of the middle cerebral artery (4/11), diffuse cortical atrophy (2/11), focal hemorrhage (2/11), and dural sinus thrombosis (1/11). Angiographic findings were normal (5/8) or reflected either occlusion of a large cerebral artery (2/8) or dural sinus thrombosis (1/8). Neuroradiologic findings of PAPS are nonspecific but in young or middle- aged adults who show the above mentioned CT or MR findings, and in whom risk factors for stroke are not present, the condition should be suspected.

  16. CT findings in unilateral hepatopulmonary syndrome after the Fontan operation

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Young Hun; Lee, Whal; Park, Jae Hyung [Seoul National University Hospital, Radiology Department, Seoul (Korea); Cheon, Jung-Eun; Kim, Woo Sun; Kim, In-One; Yeon, Kyung Mo [Seoul National University Children' s Hospital, Radiology Department, Seoul (Korea)

    2009-04-15

    Patients with complex congenital heart defects palliated by connecting the systemic veins directly to the pulmonary circulation are known to develop hepatopulmonary syndrome (HPS). Although rare, HPS can develop following the Fontan operation. To present and analyse the CT findings of HPS in patients with a Fontan circulation. From May to December 2005, six patients with HPS following the completion of a Fontan circulation were evaluated. CT findings were reviewed and were compared with angiographic findings. All six patients showed unilateral involvement. All patients except one had inferior vena cava (IVC) interruption with azygos continuation. CT scans showed abnormal vascular dilatation in one lung, and properly demonstrated the anatomy causing the hepatic venous blood to flow preferentially into one lung. These CT findings correlated well with the angiography findings. HPS that develops after the Fontan procedure is typically unilateral and is often associated with IVC interruption and azygos or hemiazygos continuation. CT demonstrates dilatation of pulmonary vessels in the affected lung and may be able to demonstrate the underlying anatomical cause for the predilection of hepatic venous flow to the contralateral lung. (orig.)

  17. Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies

    Science.gov (United States)

    2009-10-14

    Immunologic Deficiency Syndromes; Chediak-Higashi Syndrome; Common Variable Immunodeficiency; Graft Versus Host Disease; X-Linked Lymphoproliferative Syndrome; Familial Erythrophagocytic Lymphohistiocytosis; Hemophagocytic Lymphohistiocytosis; X-linked Agammaglobulinemia; Wiskott-Aldrich Syndrome; Chronic Granulomatous Disease; X-linked Hyper IgM Syndrome; Severe Combined Immunodeficiency; Leukocyte Adhesion Deficiency Syndrome; Virus-Associated Hemophagocytic Syndrome

  18. Trapped neutrophil syndrome in a Border Collie dog: clinical, clinico-pathologic, and molecular findings.

    Science.gov (United States)

    Mizukami, Keijiro; Shoubudani, Tomoaki; Nishimoto, Seira; Kawamura, Ryuta; Yabuki, Akira; Yamato, Osamu

    2012-06-01

    Trapped neutrophil syndrome (TNS) is an autosomal recessive inherited neutropenia known in Border Collies since the 1990's. Recently, the causative mutation has been identified in the canine VPS13B gene and a DNA-based diagnosis has now become available. The present paper describes clinical and clinico-pathologic findings in a Border Collie with TNS that was molecularly diagnosed for the first time in Japan. In a 10-week-old male Border Collie with microgenesis and symptoms related to recurrent infections, a hematological examination revealed severe leukopenia due to neutropenia, suggesting the dog to be affected by inherited neutropenic immunodeficiency. Direct DNA sequencing demonstrated that the dog was homozygous for the causative mutation of TNS and both its parents were heterozygous carriers. In addition, a simple and rapid polymerase chain reaction-based length polymorphism analysis coupled with microchip electrophoresis was developed for the genotyping of TNS. This assay could discriminate clearly all genotypes, suggesting that it was suitable for both individual diagnosis and large-scale surveys for prevention.

  19. Molecular and Clinical Findings in Patients With Knobloch Syndrome.

    Science.gov (United States)

    Hull, Sarah; Arno, Gavin; Ku, Cristy A; Ge, Zhongqi; Waseem, Naushin; Chandra, Aman; Webster, Andrew R; Robson, Anthony G; Michaelides, Michel; Weleber, Richard G; Davagnanam, Indran; Chen, Rui; Holder, Graham E; Pennesi, Mark E; Moore, Anthony T

    2016-07-01

    Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele, but it is now known to have an increasingly variable phenotype. There is a lack of reported electrophysiologic data, and some key clinical features have yet to be described. To expand on current clinical, electrophysiologic, and molecular genetic findings in Knobloch syndrome. Twelve patients from 7 families underwent full ophthalmic examination and retinal imaging. Further investigations included electroretinography and neuroradiologic imaging. Bidirectional Sanger sequencing of COL18A1 was performed with segregation on available relatives. The study was conducted from July 4, 2013, to October 5, 2015. Data analysis was performed from May 20, 2014, to November 3, 2015. Results of ophthalmic and neuroradiologic assessment and sequence analysis of COL18A1. Of the 12 patients (6 males; mean age at last review, 16 years [range, 2-38 years]), all had high myopia in at least 1 eye and severely reduced vision. A sibling pair had unilateral high myopia in their right eyes and near emmetropia in their left eyes from infancy. Anterior segment abnormalities included absent iris crypts, iris transillumination, lens subluxation, and cataract. Two patients with iris transillumination had glaucoma. Fundus characteristics included abnormal collapsed vitreous, macular atrophy, and a tesselated fundus. Five patients had previous retinal detachment. Electroretinography revealed a cone-rod pattern of dysfunction in 8 patients, was severely reduced or undetectable in 2 patients, and demonstrated cone-rod dysfunction in 1 eye with undetectable responses in the other eye in 2 patients. Radiologic imaging demonstrated occipital encephalocele or meningocele in 3 patients, occipital skull defects in 4 patients, minor occipital changes in 2 patients, and no abnormalities in 2 patients. Cutaneous scalp changes were present in 5 patients

  20. [Clinical and endocrinological findings of bitches with ovarian cyst syndrome].

    Science.gov (United States)

    Bostedt, H; Jung, C; Wehrend, A; Boryzcko, Z

    2013-10-01

    Aim of this study was to record the clinical findings in bitches with ovarian cyst syndrome (OCS) and to interpret them in connection with the endocrine status in peripheral blood and in cyst liquid. For our investigation 16 bitches of different breeds with an average age of 9.7 years were used. They have been presented to the clinic due to different gynecological symptoms. The leading symptom was in 87.5 % of the cases a chronic vaginal secretion. In addition to a detailed anamnesis a clinical examination was performed including vaginalcytologic, sonographic, hematologic and hormonal findings (progesterone P4, 17β estradiol E2). As basic diagnoses could be made: Cycle aberrations (n = 8), pyometra endometritis complex (n = 4), vaginal tumor (n = 4). In addition 3 patients were presented with alopecia. All patients were ovariohysterectomized without prior conservative treatment and the ovaries histologically examined and classified. Based on sonographic findings before and macroscopic evaluation the ovaries after surgery, the OCS could be divided into an oligocystic and polycystic syndrome. There were predominating (94 %) follicle theca cysts. The formation of cysts on the ovary was in the vast majority (66.7 %) combined with corpora lutea. The endometrium showed mainly (50 %) a glandular cystic hyperplasia (CHE) and the hematologic examination revealed in 31.2 % of the patients a combination of advanced erythropenia and thrombocytopenia. Generally there was no direct relationship between increased P4 and E2 values in the pooled cyst fluid and in the peripheral blood when the oestrous phase was considered. Based on present data the diagnosis of OCS of the bitch by means of peripheral P4 and E2 values is not possible.

  1. Kidney biopsy findings in primary Sjögren syndrome.

    Science.gov (United States)

    Kidder, Dana; Rutherford, Elaine; Kipgen, David; Fleming, Stewart; Geddes, Colin; Stewart, Graham A

    2015-08-01

    Renal involvement is rare in primary Sjögren syndrome (PSS). In this study, we examined renal biopsy findings in patients with PSS and correlated them with their clinical and renal findings. Twenty-five patients with PSS who underwent renal biopsies from two renal units in Scotland between 1978 and 2013 were identified from renal biopsy database. We examined the renal morphologic, clinical and renal findings at the time of renal biopsy, renal and patient outcomes. The diagnosis of PSS preceded renal biopsy in 18/25 patients. In this group, the median duration of the disease was 5.5 years. Significant proteinuria, combined microscopic haematuria and proteinuria and reduced renal excretory function were found in 76, 56 and 84% of patients, respectively. The 3-year actuarial patient survival was significantly lower in patients with glomerulonephritis as compared with tubulointerstitial nephritis (66 versus 100%, P = 0.02). There was no difference in 3-year actuarial renal survival between these two groups (92 versus 92%, P = 1.0). Renal biopsy is rare in PSS and often reveals diverse pathological findings. Glomerulonephritis, as compared with tubulointerstitial nephritis, is associated with higher early mortality. Further studies are needed to evaluate the utility of renal biopsy and its impact on disease management. © The Author 2015. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

  2. Clinical manifestations and oral findings in Fraser syndrome.

    Science.gov (United States)

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

    2007-01-01

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

  3. Brain perfusion SPECT and EEG findings in Rett syndrome

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    Lappalainen, R. [Children`s Castle Hospital, Dept. of Child Neurology, Helsinki (Finland); Liewendahl, K.; Nikkinen, P. [Univ. Central Hospital, Division of Nuclear Medicine, Laboratory Dept., Helsinki (Finland); Sainio, K.; Riikonen, R.S. [Univ. Central Hospital, Child Neurology, Helsinki (Finland)

    1997-01-01

    Thirteen patients (mean age 8.4 + 5.3 years) with Rett syndrome (RS) were studied with EEG and {sup 99m}Tc-HMPAO SPECT. Eleven patients had background abnormalities and 10 patients paroxysmal activity in EEG. Hypoperfusion of varying severity was detected in 11 patients, 7 patients having multiple lesions. Bifrontal hypoperfusion, observed in 6 patients, was the most distinctive finding. Hypoperfusion was observed also in other cortical regions, except for the occipital lobes. There was no correlation between severity of the background abnormality or presence of paroxysmal activity in EEG and grade of hypoperfusion. There was, however, an association between the severity of hypoperfusion and early manifestation of symptoms in patients with RS. Whether this early-onset group of patients represents a different disease entity or only reflects disease variability the basic pathology being the same, is a possibility that deserves further clarification. (au) 37 refs.

  4. Superior facet syndrome. Findings on metrizamide CT myelography

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    Kubo, Yoshichika; Igarashi, Seishi; Koyama, Tsunemaro

    1985-02-01

    Sciatica caused by root entrapment in the lateral recess was named superior facet syndrome by Epstein in 1972. Few reports on this subject based on large numbers of cases have been documented to date. Of the patients with sciatica, 32 patients were diagnosed to have root entrapment at the lateral recess L5 or/and S1 lumbar spine. Out of 32 patients, 20 patients were operated on and the lateral entrapment was recognized in all of surgical cases. Neuroradiological findings, especially of metrizamide CT (met. CT), were documented in detail. Thirty two patients were classified in three types according to radiological findings. They were congenital or developmental, degenerative, and combined type, respectively. Fourteen cases belonged to the congenital type, 13 to the degenerative and 5 to the combined type. Each group had the mean ages of 23.4, 53.8, and 36.8 years old, respectively. Of 32 cases the entrapment occured in 47 L5 roots and 11 S1 roots. There was no remarkable laterality. In operation the unroofing of the lateral recess were done and the sciatica subsided postoperatively in all of surgical cases. Met. CT revealed extreme medial protrusion of the superior articular joint in 18 of 24 cases(75%) and none filling of the root in the lateral recess in 21 of 24 cases (87.5%). In the degenerative type, met. CT showed some degenerative changes that were hypertrophy or deformity of the articular joints and spur formation of the vertebral body. In contrast to met. CT, metrizamide myelography revealed only slight changes, which were poor filling of the root before it turned out the pedicle of lateral compression of the root. In plain films or lumbar spine articular joints at Lsub(4/5) were formed in coronal plane in 69% of cases of the L5 root entrapment. Met. CT using ReView technique was of great diagnostic value in superior facet syndrome.

  5. Electrophysiological findings of Turkish patients with restless legs syndrome

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    Özsimsek A

    2017-07-01

    Full Text Available Ahmet Özsimsek,1 Hasan Rifat Koyuncuoglu2 1Neurology Department, Uşak Medical Park Hospital, Uşak, 2Neurology Department, Medical Faculty, Süleyman Demirel University, Isparta, Turkey Abstract: We aimed to investigate changes in electrophysiological findings in Turkish patients with restless legs syndrome (RLS, including F-wave latency (FWL, peripheral silent period (PSP, and Hoffmann reflex. The study took place in a university hospital in Turkey and involved 30 newly diagnosed RLS patients and 30 healthy controls who were matched for age and gender. Participant’s demographics (age, gender, weight, and height, laboratory findings, and electrophysiological test outcomes were gathered and analyzed. There was no significant difference in the FWL of the median and ulnar nerves, whereas the H-wave maximum amplitude and H/M ratio were significantly higher in the RLS patients than in the controls at rest. All of the PSP parameters were similar between patients and controls for the abductor pollicis brevis and gastrocnemius muscles. However, for the tibialis anterior muscle, all the PSP duration parameters were shorter in the RLS patients, whereas the PSP latency parameters were similar. The data suggest that there may be a reduction in spinal segmental inhibition at the L4–L5–S1 level, but the mechanisms of inhibition at the L4–L5 and S1 levels may be different; furthermore, there may be no pathology in the peripheral nerves. Further prospective studies with larger cohorts are now needed to evaluate the pathophysiology of RLS with different neurophysiological assessment tools. Keywords: restless legs syndrome, F wave, peripheral silent period, Hoffmann reflex

  6. Gestational, perinatal and family findings of patients with Patau syndrome

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    Rafael Fabiano M. Rosa

    2013-12-01

    Full Text Available OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS. METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p<0.05. RESULTS: The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%. Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%; multiparous mothers (92.6%; vaginal delivery (77%; preterm birth (34.6%; birth weight <2500g (33.3%, and Apgar scores <7 in the 1st (75% and in the 5th minute (42.9%. About half of them (53% died during the first month of life. CONCLUSIONS: The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients.

  7. Gestational, perinatal and family findings of patients with Patau syndrome.

    Science.gov (United States)

    Rosa, Rafael Fabiano M; Sarmento, Melina Vaz; Polli, Janaina Borges; Groff, Daniela de Paoli; Petry, Patrícia; Mattos, Vinícius Freitas de; Rosa, Rosana Cardoso M; Trevisan, Patrícia; Zen, Paulo Ricardo G

    2013-12-01

    To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p<0.05. The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%). Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%); multiparous mothers (92.6%); vaginal delivery (77%); preterm birth (34.6%); birth weight <2500g (33.3%), and Apgar scores <7 in the 1st (75%) and in the 5th minute (42.9%). About half of them (53%) died during the first month of life. The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients.

  8. Magnetic resonance imaging findings in Axenfeld–Rieger syndrome

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    Whitehead MT

    2013-05-01

    Full Text Available Matthew T Whitehead,1,2 Asim F Choudhri,1,2 Sarwat Salim31Department of Radiology, University of Tennessee Health Science Center, Memphis, TN, USA; 2Le Bonheur Neuroscience Institute, Le Bonheur Children’s Hospital, Memphis, TN, USA; 3Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN, USAAbstract: Axenfeld–Rieger syndrome (ARS is a genetic disorder representing a disease spectrum resulting from neural crest cell maldevelopment. Glaucoma is a common complication from the incomplete formation of the iridocorneal angle structures. Neural crest cells also form structures of the forebrain and pituitary gland, dental papillae, aortic arch walls, genitalia, and long bones; therefore, patients with ARS manifest a wide range of systemic findings. To our knowledge, detailed magnetic resonance imaging findings have not been previously reported. We report a case of a 19-month-old Indian male diagnosed with ARS with emphasis on magnetic resonance imaging findings of the globes, brain, teeth, and skull base.Keywords: ARS, glaucoma, megalocornea, orbit MRI

  9. Oral findings of Down syndrome children in Chennai city, India

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    Asokan Sharath

    2008-01-01

    Full Text Available Purpose: To assess the common oral findings and anomalies of Down syndrome (DS children in Chennai city, India. Materials and Methods: Among the 130 DS children examined, 102 children aged 15 years and below were included in the study. There were 57 male children and 45 female children in the total study sample. A specially prepared case record was used to record the following findings in each child: a brief family and personal history; anomalies of soft tissues, teeth, occlusion, and temporomandibular joint. Age wise and sex wise comparisons of the findings were done. Results: About 97 children (95% had the habit of regular tooth brushing. Everted lower lip (66%, retained primary teeth (31%, and midface deficiency (76% were the most commonly seen soft tissue, dental, and occlusion anomalies, respectively. Conclusions: Midface deficiency was the most common orofacial anomaly seen in these children, followed by everted lower lip and retained primary teeth. Almost all the children had a regular tooth brushing habit. All the children examined were offered free dental treatment in our dental college.

  10. Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

    Science.gov (United States)

    Tooley, Madeleine; Lynch, Danielle; Bernier, Francois; Parboosingh, Jillian; Bhoj, Elizabeth; Zackai, Elaine; Calder, Alistair; Itasaki, Nobue; Wakeling, Emma; Scott, Richard; Lees, Melissa; Clayton-Smith, Jill; Blyth, Moira; Morton, Jenny; Shears, Debbie; Kini, Usha; Homfray, Tessa; Clarke, Angus; Barnicoat, Angela; Wallis, Colin; Hewitson, Rebecca; Offiah, Amaka; Saunders, Michael; Langton-Hewer, Simon; Hilliard, Tom; Davis, Peter; Smithson, Sarah

    2016-05-01

    Cerebro-Costo-Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial arch-derivative malformations with striking rib-gaps. Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. We describe a series of 12 sporadic and 4 familial patients including 13 infants/children and 3 adults. Severe micrognathia and reduced numbers of ribs with gaps are consistent findings. Cleft palate, feeding difficulties, respiratory distress, tracheostomy requirement, and scoliosis are common. Additional malformations such as horseshoe kidney, hypospadias, and septal heart defect may occur. Microcephaly and significant developmental delay are present in a small minority of patients. Key radiological findings are of a narrow thorax, multiple posterior rib gaps and abnormal costo-transverse articulation. A novel finding in 2 patients is bilateral accessory ossicles arising from the hyoid bone. Recently, specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS. These mutations cluster in an alternatively spliced regulatory exon and result in altered SNRPB expression. DNA was available from 14 patients and SNRPB mutations were identified in 12 (4 previously reported). Eleven had recurrent mutations previously described in patients with CCMS and one had a novel mutation in the alternative exon. These results confirm the specificity of SNRPB mutations in CCMS and provide further evidence for the role of spliceosomal proteins in craniofacial and thoracic development.

  11. An unusual ophthalmic finding in Lane-Hamilton syndrome.

    Science.gov (United States)

    Villegas, Victor M; Rachitskaya, Aleksandra V; Lam, Byron L; McKeown, Craig A; Berrocal, Audina M

    2014-12-01

    Lane-Hamilton syndrome is a rare condition that is characterized by idiopathic pulmonary hemosiderosis and celiac disease. We report the case of an 18-month-old girl with Lane-Hamilton syndrome who had unilateral pigmentary retinopathy.

  12. Nervous system manifestations and neuroradiologic findings in acquired immunodeficiency syndrome (AIDS)

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    Rodesch, G.; Parizel, P.M.; Lalmand, B.; Vanderhofstadt, A.; Baleriaux, D.; Farber, C.M.; Calck, M. van; Przedborski, S.; Haens, J. d' ; Taelman, H.

    1989-03-01

    We report a series of thirteen patients with nervous system complications out of a total of thirty AIDS patients admitted to our hospital over the last two years for which CT and/or MRI have been performed. Five were homosexual men and eight patients (5 men, 3 women) were of African origin (Zaire and Rwanda) (n=5) or had had sexual intercourse with the local African population (n=3). The nervous system complications encountered included: Toxoplasma gondii brain abscess (2 patients); cryptococcus neoformans meningitis+toxoplasmosis (1 patient); toxoplasmosis+lymphoma (2 patients); progressive multifocal leucoencephalopathy (1 patient); lymphocytic meningitis or encephalitis (3 patients); lymphoma (1 patient); polyradiculoneuritis (3 patients). Three of thirteen patients had multiple intracranial abnormalities: One had concomitant intraparenchymal toxoplasma abscess and cryptococcal meningitis; in one patient a lymphoma developed after the successful medical treatment of a toxoplasma abscess; conversely, one patient developed a toxoplasma abscess two years after mediastinal radiotherapy for a systemic non-Hodgkin lymphoma. In conclusion, in our experience, nervous system toxoplasmosis is the most frequent AIDS related CNS complication. Our series demonstrates the high frequency of a second neurological disease occurring either concomitantly or separately. In these cases, while CT may readily identify the intracranial abnormalities, it contributes little towards an etiological diagnosis. Finally, our series illustrates the importance of a central African endemic focus for AIDS.

  13. STURGE WEBER SYNDROME WITH UNUSUAL INTRACRANIAL FINDINGS: A CASE REPORT

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    Shailendra Kumar

    2014-04-01

    Full Text Available The Sturge-Weber Syndrome, also known as encephalotrigeminal angiomatosis, is a rare vascular neurocutaneous alteration. The main clinical features of this syndrome are facial vascular cutaneous naevus, usually unilateral, which often follows the outline distribution of trigeminal nerve. We hereby are reporting a clinical case of Sturge-Weber Syndrome in a 16 year old female patient who presented with oral, cutaneous and ocular manifestations related to the syndrome.

  14. Retrovirus-induced murine acquired immunodeficiency syndrome: natural history of infection and differing susceptibility of inbred mouse strains.

    Science.gov (United States)

    Hartley, J W; Fredrickson, T N; Yetter, R A; Makino, M; Morse, H C

    1989-03-01

    C57BL mice (Fv-1b) develop a severe immunodeficiency disease following inoculation as adults with LP-BM5 murine leukemia virus (MuLV), a derivative of Duplan-Laterjet virus which contains B-tropic ecotropic and mink cell focus-inducing MuLVs and a putative defective genome which may be the proximal cause of disease. The stages of development of this disease were defined for C57BL mice on the basis of lymphadenopathy and splenomegaly; histopathological changes consistent with B-cell activation; and alterations in expression of cell surface antigens affected by proliferation of T cells, B cells, and macrophages. By using this disease profile as a standard, the response of adult mice of various inbred strains and selected F1 hybrids was compared. We show that although the strains which are highly sensitive are of the Fv-1b genotype (i.e., permissive for B-tropic MuLVs), certain Fv-1b strains, e.g., BALB/c and A/J, are resistant to murine acquired immunodeficiency syndrome, whereas certain Fv-1n strains (permissive for N-tropic MuLVs but restrictive for B-tropic MuLVs), notably P/N, BDP, and AKR, show moderate sensitivity and (C57BL/6 x CBA/N)F1 mice (Fv-1n/b and thus dually restrictive) are of relatively high susceptibility. The results of virus recovery tests suggest that apparently anomalous sensitivity, based on predicted Fv-1 restriction, may reflect MuLV induction and/or mutation to provide a helper virus for which the host is permissive.

  15. Pathologic lesions in children with acquired immunodeficiency syndrome an autopsy study of 11 cases from Mumbai, India

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    Dhanesheshwar N Lanjewar

    2016-01-01

    Full Text Available Background: Human immunodeficiency virus (HIV infection in India has now been prevalent over three decades, and an increasing number of children are being affected with HIV. The spectrum of pathologic lesions in children with acquired immunodeficiency syndrome (AIDS in India has not been well described. Materials and Methods: A review of systematically conducted autopsies of 11 (10 boys and 1 girl children with AIDS is presented. Results: The mode of HIV transmission in 6 children was vertical; in one it was blood transfusion and in 4 children route was presumably vertical as these were children of orphanage. The clinical manifestations were failure to thrive; 9 children, persistent gastroenteritis; 8, recurrent fever; 5, bacterial infections; 5, hepatosplenomegaly; 5, candidiasis; 1, scabies; 1, skin rash; 2, tuberculous (TB meningitis; 1 and paraplegia; in 1 child. The spectrum of pathologic lesions observed were precocious involution in thymus in 3 and dysinvolution in 2 cases. Infectious diseases comprised of TB; 4 cases, cytomegalovirus infection (CMV 4; bacterial pneumonia and meningitis; 7, and esophageal candidiasis in 2 cases. Dual or multiple infections were observed in 9 (82% cases; these comprised of two lesions in 2, three lesions in 2, four lesions in 4, and five lesions in 1 case. TB, bacterial pneumonia, meningitis, and CMV infection are the most frequent causes of death in children with AIDS. Vascular lesions showing features of arteriopathy were observed in 5 cases and brain in one case showed non-Hodgkin's lymphoma. Conclusions: This study provides a better insight into the spectrum of pathologic lesions in children with AIDS in India. TB and CMV infection has been found to be the most prevalent infection in our children.

  16. Difficulties with diagnosis and consequential poor outcome due to stigma of acquired immunodeficiency syndrome – a case report

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    Vuletic, Vladimira; Nevajda, Branimir; Spero, Martina; Chudy, Darko

    2013-01-01

    Low incidence of human immunodeficiency virus (HIV) infections and acquired immunodeficiency syndrome (AIDS) has been detected in Croatia so far. Toxoplasmic encephalitis (TE) is the most common opportunistic cerebral infection in AIDS patients and is highly responsive to antiparasitic chemotherapy, if treated at an early stage. We present the case of the brain biopsy confirmed as TE on a 36-year-old female patient who at admission presented with unconsciousness and a right hemiplegia. A MSCT was performed and two hypodense lesions were diagnosed. The patient’s family initially denied the presence or history of any medical problem or infection. An MRI showed multiple ring-enhanced mass lesions. An infectologist required a brain biopsy to exclude cerebral lymphoma and multiple metastases. Pathohistological analysis suggested TE. Meanwhile, patient’s blood samples were found to be HIV positive. The patient was transferred to University Hospital for Infectious Diseases in Zagreb, where she died 2 days following admission. The patient’s family terminally confessed that the patient had been HIV positive for 10 years and had refused any treatment. Family’s denial of infection as well as ‘hiding information’ concerning patient’s health from physicians involved in her treatment caused a delay in proper on-time patient treatment. We would like to emphasize that TE must be considered as a differential diagnosis in patients presenting with multiple cerebral lesions, including patients without acknowledged past history of HIV infection. A stigma towards HIV infection and ignorance of the disease still exist and therefore hinders proper treatment. PMID:24091082

  17. Finding meaning in parenting a child with Asperger syndrome: correlates of sense making and benefit finding.

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    Pakenham, Kenneth I; Sofronoff, Kate; Samios, Christina

    2004-01-01

    This study explored the nature of two construals of meaning, benefit finding and sense making, in parents of a child with Asperger syndrome, and examined relations between both meaning constructs and the Double ABCX family stress model variables (initial stressor and pile-up of demands, appraisal, social support, coping strategies and adjustment) [H.I. McCubbin, J.M. Patterson, Social Stress and the Family: Advances and Developments in Family Stress Theory and Research, Haworth, New York, 1983, pp. 7-37]. A total of 59 parents completed questionnaires. Content analyses of parents' responses to questions inquiring about gains and sense making explanations revealed 8 benefit and 12 sense making themes. Results of correlations indicated that one or more of the meaning variables were related to each of the Double ABCX model predictors of parental adjustment. The meaning variables were positively related to adaptive coping processes: social support, self-efficacy, and problem-focused and emotional approach coping strategies.

  18. Clinical and MR findings of tethered cord syndrome

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    Chung, Ho In; Kim, Hyae Young; Chung, Eun Chul; Suh, Jeong Soo [Ewha Womans University College of Medicine, Seoul (Korea, Republic of); Lim, Hyo Keun [Hallym University College of Medicine, Seoul (Korea, Republic of); Lee, Seoung Ro [Hanyang University College of Medicine, Seoul (Korea, Republic of); Lee, Young Seok [Chung Ang Gil Hospital, Incheon (Korea, Republic of)

    1994-09-15

    Tethered cord syndrome(TCS)is defined as low position of the conus medullaris by the abnormally fixed spinal cord with progressive neurologic deficit. To evaluate the findings of TCS at MRI and its diagnostic value, we performed a retrospective analysis of MRI of 30 patients with emphasis on clinical manifestation, level of conus medullaris, cause of tethering, and associated findings. Clinical presentation included back mass(26 cases), neurogenic bladder(5 cases), urinary incontinences(5 cases), progressive constipation(2 cases), skin dimpling(1 case), gait disturbance(1 case) and club foot (1 case). Neurologic deficit was developed 11 cases(40%) and mean age of these patients at the time of diagnosis was 8.6 years. The most common cause of tethering was lipoma(63%). The tips of conus medullaris were below the level of the second lumbar spine ia all patients. The causes of tethering were lipomatous components(spinal lipoma and lipomyelomenigocele) in 67% myelomeningocele in 20%, presacral mass in 7%, thickened filum terminale in 3% and postoperative change in 3%. Associated anomalies included syringomyelia(20%) and hydrocephalus was associated in 3 out 5 patients who underwent brain MRI. MRI clearly delineated the location of conus, tethering of the filum terminate with their causes and associated abnormalities. MRI examination is a very useful diagnostic tool for the early evaluation of TCS and the postoperative follow up.

  19. Electrophysiological findings of Turkish patients with restless legs syndrome.

    Science.gov (United States)

    Özsimsek, Ahmet; Koyuncuoglu, Hasan Rifat

    2017-01-01

    We aimed to investigate changes in electrophysiological findings in Turkish patients with restless legs syndrome (RLS), including F-wave latency (FWL), peripheral silent period (PSP), and Hoffmann reflex. The study took place in a university hospital in Turkey and involved 30 newly diagnosed RLS patients and 30 healthy controls who were matched for age and gender. Participant's demographics (age, gender, weight, and height), laboratory findings, and electrophysiological test outcomes were gathered and analyzed. There was no significant difference in the FWL of the median and ulnar nerves, whereas the H-wave maximum amplitude and H/M ratio were significantly higher in the RLS patients than in the controls at rest. All of the PSP parameters were similar between patients and controls for the abductor pollicis brevis and gastrocnemius muscles. However, for the tibialis anterior muscle, all the PSP duration parameters were shorter in the RLS patients, whereas the PSP latency parameters were similar. The data suggest that there may be a reduction in spinal segmental inhibition at the L4-L5-S1 level, but the mechanisms of inhibition at the L4-L5 and S1 levels may be different; furthermore, there may be no pathology in the peripheral nerves. Further prospective studies with larger cohorts are now needed to evaluate the pathophysiology of RLS with different neurophysiological assessment tools.

  20. Acute respiratory distress syndrome (ARDS): HRCT findings in survivors

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    Jung, Jung Im; Park, Seog Hee; Lee, Jae Mun; Song, Jeong Sup; Lee, Kyo Young [The Catholic Univ. College of Medicine, Seoul (Korea, Republic of)

    1999-08-01

    The purpose of this report is to describe the high-resolution computed tomography (HRCT) findings of the lung in survivors of acute respiratory distress syndrome (ARDS). Among eleven patients who survived ARDS for one year, chest radiography and HRCT revealed pulmonary fibrosis in four. Causes of ARDS included pneumonia during pregnancy, near drowning, pneumonia during liver cirrhosis, and postoperative sepsis. Thoracoscopic biopsy and histopathologic correlation were available in one patient. HRCT showed diffuse interlobular septal thickening, ground glass opacity, parenchymal distortion, and traction bronchiectasis. Fuzzy centrilobular nodules were seen in two patients and one patient had multiple, large bullae in the left hemithorax. In all patients, lesions affected the upper and anterior zones of the lung more prominently. The distribution of pulmonary fibrosis was characteristic and reflected the pathogenesis of lung injury; fibrosis was largely due to hyperoxia caused by ventilator care. In one patient, histopathologic correlation showed that imaging findings were accounted for by thickening of the alveolar septum along with infiltration of chronic inflammatory cells and fibrosis. Fuzzy centrilobular nodules corresponded with bronchiolitis.

  1. Leigh syndrome. A comparison of CT scanning and pathological findings

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    Hirata, Y.; Okamoto, K.; Somiya, K. (Hamamatsu Medical Center, Shizuoka (Japan)); Hokazono, Y.; Tozuka, S.

    1981-11-01

    A male infant developed hypotonia at 5 months, vomiting, diarrhea, fever, generalized clonic convulsion, tonic spasm and periodical opisthotonus at 8 months, swallowing difficulty at 10 months, pes equinovarus and optic atrophy at 11 months, and then tachypnea, and died at 14 months of age. Parents were consanguinous. Laboratory studies revealed elevated serum LDH, CPK, lactate and Pyruvate. TPP-ATP phosphoryl transferase inhibitor was negative in urine. EEG showed irregular and diffuse slow waves and periodic diffuse spike and waves. CT scan at 9 months of age showed slightly low attenuation areas in the putamen bilaterally. At 11 months, a diffuse cerebral atrophy was found, and the low attenuation of the basal ganglia became more definite. No enhanced lesion was seen at 13 months of age. Thiamine tetra-hydrofurfuryl disulfide and lipoic acid were tried without success. The pathological findings of the brain were astrogliosis and proliferation of capillaries in putamen, thalamus, caudate nucleus, substantia nigra, pontine brachium and cerebral cortex, which were symmetrically involved. The symmetrical cavitation was found in putamen. Optic nerve and mamillary body were spared. CT scan findings corresponded well with the pathology of the necrotic lesions of the brain. It was concluded that these CT scan pictures described above may be diagnostic of Leigh syndrome.

  2. Characteristics and contributions of defective, ecotropic, and mink cell focus-inducing viruses involved in a retrovirus-induced immunodeficiency syndrome of mice.

    OpenAIRE

    Chattopadhyay, S K; Sengupta, D N; Fredrickson, T N; Morse, H. C.; Hartley, J W

    1991-01-01

    LP-BM5 murine leukemia virus, a derivative of Duplan-Laterjet virus, contains a mixture of replication-competent B-tropic ecotropic and mink cell focus-inducing (MCF) viruses and a defective genome that is the proximal cause of a syndrome, murine AIDS (MAIDS), characterized by lymphoproliferation and immunodeficiency. The defective (BM5d) and ecotropic components of this mixture were molecularly cloned, and complete (BM5d) or partial (ecotropic) nucleotide sequences were determined. BM5d clos...

  3. Electrophysiolocal findings in Mohr-Tranebjærg syndrome

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    Regina Halfeld Furtado de Mendonça

    2015-04-01

    Full Text Available Mohr-Tranebjærg syndrome (MTS is an X-liked recessive rare syndrome also known as deafness-dystonia syndrome. The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes they are accompanied by cortical deterioration of vision and mental deterioration. The purpose of this paper is to illustrate a very interesting case of Mohr-Tranebjærg syndrome. A 24-year-old italian man with Mohr-Tranebjærg syndrome underwent full field electroretinography (ERG and visual evoked potentials (VEPs. Fundus examination showed apparently normal retina with pallor of the optic disc. Pattern reversal VEP and flash VEP responses were non-recordable. ERG showed amplitude reduction of the fotopic, scotopic and 30 Hz flicker responses revealing generalized retinal dysfunction with reduction of cone and rod responses. The progressive neurodegeneration in Mohr-Tranebjærg syndrome can be also associated with a retinal degeneration.

  4. Ultrasonographic Findings of the Ulnar Nerves in Cubital Tunnel Syndrome

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    Koh, Young Hwan; Chai, Jee Won; Chung, Se Yeong; Choi, Young Ho; Cha, Joo Hee [Seoul Municipal Boramae Hospital, Seoul (Korea, Republic of)

    2010-06-15

    To determine useful diagnostic criteria of cubital tunnel syndrome (CTS), using ultrasonographic ulnar nerve cross-sectional areas (UNCSA) measurements. The CTS group included 28 patients confirmed with nerve conduction study and the control group included 17 healthy adults. Ulnar nerve cross sectional areas (UNCSA) were measured at the distal 1/3 upper arm level and in the cubital tunnel (CTN). US findings of CTS were ulnar nerve dislocation (n = 2), ulnar nerve subluxation (n = 5), ganglion (n = 1), sever elbow joint osteoarthritis (n = 1) and elbow joint valgus deformity after fracture (n = 1). UNCSA, the ratio of UNCSA in CTN to distal 1/3 upper arm level (CH ratio), and the difference of UNCSA between CTN and distal 1/3 upper arm level (CH difference) were evaluated to obtain the optimal diagnostic cutoff value of CTS, using ROC curve. The mean UNCSA in CTN was 0.168 cm2 in the CTS and 0.067 cm2 in the control. The CTS could be diagnosed when UNCSA, the CH ratio and the CH difference are larger than 0.096 cm2, 1.371 and 0.036 cm2 respectively. The ROC curve area was largest and the sensitivity, specificity was respectively 82.4%, 95.8%, when the CH difference was used as cutoff value. Ultrasound is useful for the detection of CTS pathogenic lesions in CTN. The highest diagnostic accuracy was acquired when the CH difference is larger than 0.036 cm2

  5. FDG-PET findings in the Wernicke-Korsakoff syndrome.

    Science.gov (United States)

    Reed, Laurence J; Lasserson, Dan; Marsden, Paul; Stanhope, Nicola; Stevens, Tom; Bello, Fernando; Kingsley, Derek; Colchester, Alan; Kopelman, Michael D

    2003-01-01

    This study reports FDG-PET findings in Wernicke-Korsakoff patients. Twelve patients suffering amnesia arising from the Korsakoff syndrome were compared with 10 control subjects without alcohol-related disability. Subjects received [18F]-fluorodeoxyglucose (FDG-PET) imaging as well as neuropsychological assessment and high-resolution MR imaging with volumetric analysis. Volumetric MRI analysis had revealed thalamic and mamillary body atrophy in the patient group as well as frontal lobe atrophy with relative sparing of medial temporal lobe structures. Differences in regional metabolism were identified using complementary region of interest (ROI) and statistical parametric mapping (SPM) approaches employing either absolute methods or a reference region approach to increase statistical power. In general, we found relative hypermetabolism in white matter and hypometabolism in subcortical grey matter in Korsakoff patients. When FDG uptake ratios were examined with occipital lobe metabolism as covariate reference region, Korsakoff patients showed widespread bilateral white matter hypermetabolism on both SPM and ROI analysis. When white matter metabolism was the reference covariate; Korsakoff patients showed relative hypometabolism in the diencephalic grey matter, consistent with their known underlying neuropathology, and medial temporal and retrosplenial hypometabolism, interpreted as secondary metabolic effects within the diencephalic-limbic memory circuits. There was also evidence of a variable degree of more general frontotemporal neocortical hypometabolism on some, but not all, analyses.

  6. Remarkable Hematological Laboratory Findings in Patients with Fibromyalgia Syndrome

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    Selçuk Sayılır

    2016-12-01

    Full Text Available Objective: In our study, we examined the role of mean platelet volume (MPV and red blood cell distribution width (RDW values with certain laboratory findings in Fibromyalgia syndrome (FMS. This study is the first study which evaluates the relationship between MPV and RDW values in FMS patients. Materials and Methods: The study consisted of two groups; study group (n=36; FMS patients and control group (n=36. Patients not having hypertension, hypercholesterolaemia or diabetes, chronic inflammatory disease, history of thrombotic disease or not receiving anticoagulant agents, and as well as patients having body mass index of <30 kg/m2 were included in the study. Data were examined via computer-based software programs, retrospectively. Results: The study population consisted of 36 female FMS patients and 36 female control individuals. The mean ages of the patients in FMS and control groups were 44.6 years 42.5 years, respectively. There were not significant statistical differences between the groups in terms of hemoglobin levels, hematocrit levels, mean erythrocyte volume, platelet count, and RDW and MPV values. On the other hand, the RDW values were found to be statistically significant between the groups. Conclusion: The present study demonstrated that MPV levels were not significantly higher between the groups; however, statistically significant values of RDW might be considered in clinical practice.

  7. Natural killer cell biology illuminated by primary immunodeficiency syndromes in humans.

    Science.gov (United States)

    Voss, Matthias; Bryceson, Yenan T

    2017-04-01

    Natural killer (NK) cells are innate immune cytotoxic effector cells well known for their role in antiviral immunity and tumor immunosurveillance. In parts, this knowledge stems from rare inherited immunodeficiency disorders in humans that abrogate NK cell function leading to immune impairments, most notably associated with a high susceptibility to viral infections. Phenotypically, these disorders range from deficiencies selectively affecting NK cells to complex general immune defects that affect NK cells but also other immune cell subsets. Moreover, deficiencies may be associated with reduced NK cell numbers or rather impair specific NK cell effector functions. In recent years, genetic defects underlying the various NK cell deficiencies have been uncovered and have triggered investigative efforts to decipher the molecular mechanisms underlying these disorders. Here we review the associations between inherited human diseases and NK cell development as well as function, with a particular focus on defects in NK cell exocytosis and cytotoxicity. Furthermore we outline how reports of diverse genetic defects have shaped our understanding of NK cell biology. Copyright © 2015. Published by Elsevier Inc.

  8. [Cerebral arterial aneurysm in a child with acquired immunodeficiency syndrome: case report].

    Science.gov (United States)

    Carvalho Neto Ad; Bruck, I; Coelho, L O; Cruz, C R; Liu, C B; Gomes, A F; Ogata, S A; Tahan, T T

    2001-06-01

    Cerebral aneurysmal arteriopathy of the circle of Willis is an uncommon manifestation of acquired human immunodeficiency virus (HIV) infection and up to now only 15 cases have been published in the literature. For this reason we add our experience of this rare case, and review the most important aspects related to this entity. The patient is a 6 year old male with perinatal transmitted AIDS, tetraparethic, developed symptoms characterized by episodes of dystonic postures. The computed tomography of the brain showed aneurismal arteriopathy of the circle of Willis. He had a previous normal examination. The review of the literature shows the pathological abnormalities of the affected vessels are mainly medial fibrosis, with destruction of the internal elastic lamina and intimal hyperplasia. The etiology for the vasculitis is unknown. Varicela zoster virus, as well as HIV by itself, can be related to the physiopathology of the vasculitis. On conclusion, it can be said that although uncommon, such complications are of great importance by the fact that the patients with vascular aneurismal arteriopathy are in high risk for vascular accidents, and once a diagnosis was made, death occurs in less than 6 months, according to the literature.

  9. Vaccine-associated paralytic poliomyelitis and BCG-osis in an immigrant child with severe combined immunodeficiency syndrome - Texas, 2013.

    Science.gov (United States)

    Trimble, Robert; Atkins, Jane; Quigg, Troy C; Burns, Cara C; Wallace, Gregory S; Thomas, Mary; Mangla, Anil T; Infante, Anthony J

    2014-08-22

    Poliovirus transmission has been eliminated in most of the world through the use of inactivated poliovirus vaccine (IPV) and live, attenuated oral poliovirus vaccine (OPV). In the United States, use of OPV was discontinued by the year 2000 because of the potential for vaccine-associated paralytic polio (VAPP); an average of eight cases were reported each year in the United States during 1980-2000. Polio eradication efforts in other parts of the world continue to rely on OPV to take advantage of transmission of poliovirus vaccine strains to unvaccinated persons in the population, lower cost, and ease of administration. In 2013, an infant aged 7 months who recently immigrated to the United States from India was referred to a hospital in San Antonio, Texas. The infant had fever, an enlarging skin lesion in the deltoid region with axillary lymphadenopathy, decreased activity, and inability to bear weight on the left leg, progressing to paralysis of the left leg over a 6-week period. Recognition of lymphopenia on complete blood count led to immune evaluation, which revealed the presence of severe combined immunodeficiency syndrome (SCIDS), an inherited disorder. A history of OPV and bacille Calmette-Guérin (BCG) vaccination in India led to the diagnoses of VAPP and BCG-osis, which were confirmed microbiologically. This report demonstrates the importance of obtaining a comprehensive clinical history in a child who has recently immigrated to the United States, with recognition that differing vaccine practices in other countries might require additional consideration of potential etiologies.

  10. Clinical, endoscopic and prognostic aspects of primary gastric non-hodgkin's lymphoma associated with acquired immunodeficiency syndrome

    Directory of Open Access Journals (Sweden)

    Rosamar Eulira Fontes Rezende

    2009-02-01

    Full Text Available Primary gastric non-Hodgkin's lymphoma (NHL is a co-morbidity that can be observed during the clinical course of acquired immunodeficiency syndrome (AIDS. We evaluated the prevalence, clinical-evolutive aspects and form of endoscopic presentation of primary gastric NHL associated with AIDS. Two hundred and forty-three HIV patients were submitted to upper digestive endoscopy, with evaluation of clinical, endoscopic and histological data. A CD4 count was made by flow cytometry and viral load was determined in a branched-DNA assay. Six cases (five men; mean age: 37 years; range: 29-46 years of primary gastric NHL were detected. The median CD4 count was 140 cells/mm³ and the median viral load was 40,313 copies/mL. Upper digestive endoscopy revealed polypoid (in four patients ulcero-infiltrative (two patients and ulcerated (two patients lesions and combined polypoid and ulcerated lesions (two patients. Histology of the gastric lesions demonstrated B cell NHL (four patients and T cell NHL (two patients. Five of the six patients died of complications related to gastric NHL. We concluded that primary gastric NHL is an important cause of mortality associated with AIDS.

  11. A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia

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    Joel Johansson

    2015-01-01

    Full Text Available Juvenile polyposis syndrome (JPS is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract. We present a new pathogenic mutation of the SMAD4 gene and illustrate the need for a multidisciplinary health care approach to facilitate the correct diagnosis. The patient, a 47-year-old Caucasian woman, was diagnosed with anaemia at the age of 12. During the following 30 years, she developed numerous gastrointestinal polyps. The patient underwent several operations, and suffered chronic abdominal pain, malnutrition, and multiple infections. Screening of the SMAD4 gene revealed a novel, disease-causing mutation. In 2012, the patient suffered hypoalbuminemia and a large polyp in the small bowel was found. Gamma globulin was given but the patient responded with fever and influenza-like symptoms and refused more treatment. The patient underwent surgery in 2014 and made an uneventful recovery. At follow-up two months later albumin was 38 g/L and IgG was 6.9 g/L. Accurate diagnosis is essential for medical care. For patients with complex symptomatology, often with rare diseases, this is best provided by multidisciplinary teams including representatives from clinical genetics. Patients with a SMAD4 mutation should be followed up both for JPS and haemorrhagic hereditary telangiectasia and may develop protein loosing enteropathy and immunodeficiency.

  12. A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia

    Science.gov (United States)

    Johansson, Joel; Sahin, Christofer; Pestoff, Rebecka; Ignatova, Simone; Forsberg, Pia; Edsjö, Anders; Ekstedt, Mattias; Stenmark Askmalm, Marie

    2015-01-01

    Juvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract. We present a new pathogenic mutation of the SMAD4 gene and illustrate the need for a multidisciplinary health care approach to facilitate the correct diagnosis. The patient, a 47-year-old Caucasian woman, was diagnosed with anaemia at the age of 12. During the following 30 years, she developed numerous gastrointestinal polyps. The patient underwent several operations, and suffered chronic abdominal pain, malnutrition, and multiple infections. Screening of the SMAD4 gene revealed a novel, disease-causing mutation. In 2012, the patient suffered hypoalbuminemia and a large polyp in the small bowel was found. Gamma globulin was given but the patient responded with fever and influenza-like symptoms and refused more treatment. The patient underwent surgery in 2014 and made an uneventful recovery. At follow-up two months later albumin was 38 g/L and IgG was 6.9 g/L. Accurate diagnosis is essential for medical care. For patients with complex symptomatology, often with rare diseases, this is best provided by multidisciplinary teams including representatives from clinical genetics. Patients with a SMAD4 mutation should be followed up both for JPS and haemorrhagic hereditary telangiectasia and may develop protein loosing enteropathy and immunodeficiency. PMID:25705527

  13. Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia

    Energy Technology Data Exchange (ETDEWEB)

    Jaspers, N.G.; Taalman, R.D.; Baan, C.

    1988-01-01

    Fibroblast cultures from six unrelated patients having a familial type of immunodeficiency combined with microcephaly, developmental delay, and chromosomal instability were studied with respect to their response to ionizing radiation. The cells from five of them resembled those from individuals with ataxia telangiectasia (AT) in that they were two to three times more radiosensitive on the basis of clonogenic cell survival. In addition, after exposure to either X-rays or bleomycin, they showed an inhibition of DNA replication that was less pronounced than that in normal cells and characteristic of AT fibroblasts. However, the patients are clinically very different from AT patients, not showing any signs of neurocutaneous symptoms. Genetic complementation studies in fused cells, with the radioresistant DNA synthesis used as a marker, showed that the patients' cells could complement representatives of all presently known AT complementation groups. Furthermore, they were shown to constitute a genetically heterogeneous group as well. It is concluded that these patients are similar to AT patients with respect to cytological parameters. The clinical differences between these patients and AT patients are a reflection of genetic heterogeneity. The data indicate that the patients suffer from a chromosome-instability syndrome that is distinct from AT.

  14. Radiation therapy for Kaposi's sarcoma associated with acquired immunodeficiency syndrome. Tokyo Metropolitan Komagome Hospital experience

    Energy Technology Data Exchange (ETDEWEB)

    Ebara, Takeshi [Municipal Kanbara General Hospital, Fujikawa, Shizuoka (Japan); Karasawa, Katsuyuki; Maebayashi, Katsuya; Kurosaki, Hiromasa; Ishikawa, Hitoshi; Kaizu, Toshihide; Tanaka, Yoshiaki; Akagi, Kumiko; Masuda, Gota

    2000-12-01

    Kaposi's sarcoma is frequently found in association with acquired immunodeficiency syndrome (AIDS). We report on radiotherapy for patients with AIDS-related Kaposi's sarcoma at Tokyo Metropolitan Komagome Hospital. Between April 1991 and May 1997, radiotherapy was given to 11 lesions in eight men with AIDS-related Kaposi's sarcoma to relieve their symptoms. The lesions involved the head and neck region, the legs, and the gastrointestinal tract. Radiotherapy was carried out with 4-MV photon through parallel opposed field or high energy electrons. Total doses ranged from 20 to 38 Gy, with a median of 30 Gy, delivered in 2- to 3-Gy fractions. Four patients were given other treatments prior to the radiotherapy. Acute reaction was evaluated according to the modified acute radiation morbidity scoring criteria of the Radiation Therapy Oncology Group (RTOG). Radiotherapy had relieved the symptoms in all patients at completion of this therapy. Lesions that involved the hard palate and vocal cords had completely disappeared. The lesions that received radiotherapy were controlled without symptoms until the patients died. Patients who had the head and neck region treated exhibited severe acute mucosal reaction (at a dose of 30 Gy, there was grade 2 morbidity by modified RTOG criteria, in two patients, and grade 3 in three patients) although the radiation therapy was completed for these patients. Radiotherapy promises a favorable outcome for symptom relief in AIDS-related Kaposi's sarcoma. (author)

  15. Prevalence and Predictors of Thyroid Dysfunction in Patients with HIV Infection and Acquired Immunodeficiency Syndrome: An Indian Perspective

    Directory of Open Access Journals (Sweden)

    Neera Sharma

    2015-01-01

    Full Text Available Background. Predictors of thyroid dysfunction in HIV are not well determined. This study aimed to determine the prevalence and predictors of thyroid dysfunction in HIV infected Indians. Methods. Consecutive HIV patients, 18–70 years of age, without any severe comorbid state, having at least 1-year follow-up at the antiretroviral therapy clinic, underwent clinical assessment and hormone assays. Results. From initially screened 527 patients, 359 patients (61.44±39.42 months’ disease duration, having good immune function [CD4 count >200 cell/mm3: 90.25%; highly active antiretroviral therapy (HAART: 88.58%], were analyzed. Subclinical hypothyroidism (ScH was the commonest thyroid dysfunction (14.76% followed by sick euthyroid syndrome (SES (5.29% and isolated low TSH (3.1%. Anti-TPO antibody (TPOAb was positive in 3.90%. Baseline CD4 count had inverse correlation with TPOAb after adjusting for age and body mass index. Stepwise linear regression revealed baseline CD4 count, TPOAb, and tuberculosis to be best predictors of ScH after adjusting for age, weight, duration of HIV, and history of opportunistic fungal and viral infections. Conclusion. Burden of thyroid dysfunction in chronic HIV infection with stable immune function is lower compared to pre-HAART era. Thyroid dysfunction is primarily of nonautoimmune origin, predominantly ScH. Severe immunodeficiency at disease onset, TPOAb positivity, and tuberculosis were best predictors of ScH.

  16. CXCL12/CXCR4-Axis Dysfunctions: Markers of the Rare Immunodeficiency Disorder WHIM Syndrome

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    Françoise Bachelerie

    2010-01-01

    Full Text Available The WHIM syndrome features susceptibility to human Papillomavirus infection-induced warts and carcinomas, hypogammaglobulinemia, recurrent bacterial infections, B and T-cell lymphopenia, and neutropenia associated with retention of senescent neutrophils in the bone marrow (i.e. myelokathexis. This rare disorder is mostly linked to inherited heterozygous autosomal dominant mutations in the gene encoding CXCR4, a G protein coupled receptor with a unique ligand, the chemokine CXCL12/SDF-1. Some individuals who have full clinical forms of the syndrome carry a wild type CXCR4 gene. In spite of this genetic heterogeneity, leukocytes from WHIM patients share in common dysfunctions of the CXCR4-mediated signaling pathway upon exposure to CXCL12. Dysfunctions are characterized by impaired desensitization and receptor internalization, which are associated with enhanced responses to the chemokine. Our increasing understanding of the mechanisms that account for the aberrant CXCL12/CXCR4-mediated responses is beginning to provide insight into the pathogenesis of the disorder. As a result we can expect to identify markers of the WHIM syndrome, as well as other disorders with WHIM-like features that are associated with dysfunctions of the CXCL12/CXCR4 axis.

  17. Pneumocystis colonization, airway inflammation, and pulmonary function decline in acquired immunodeficiency syndrome.

    Science.gov (United States)

    Norris, Karen A; Morris, Alison; Patil, Sangita; Fernandes, Eustace

    2006-01-01

    As a result of improved diagnosis, treatment, and supportive care for HIV-infected patients, AIDS in developed countries has now become a chronic infection with prolonged survival time, but longterm complications are increasing contributors to morbidity and mortality. HIV-infected patients are at increased risk for the development of pulmonary complications, including chronic obstructive pulmonary disease (COPD); however, the mechanisms associated with this increased susceptibility have not been defined. Infectious agents may contribute to the development of COPD by upregulating inflammatory mediators in the lung that act in concert with cigarette smoke to promote lung pathology. Studies in human subjects and non-human primate models of AIDS suggest that the inflammatory response to asymptomatic carriage or colonization by the opportunistic pathogen, Pneumocystis sp. (Pc), is similar to that of COPD, which is characterized by influx of CD8+ T cells, neutrophils, and macrophages into the lungs. We have shown a high frequency of Pc colonization among asymptomatic HIV-infected subjects and in non-HIV infected subjects with COPD. To investigate the role of Pc in the progression of obstructive lung disease in HIV infections, we developed a non-human primate model of Pc colonizatoin and infection in simian immunodeficiency virus (SIV)-infected macaques. These animals develop a prolonged colonization state characterized by a persistent influx of CD8+ T cells and neutrophils, and local increases in IL-8, IFN-gamma, and TNF-alpha. SIV-infected Pc-colonized monkeys show progressive decline in pulmonary function compared to SIV-infected monkeys. We hypothesize that in the context of AIDS-immune dysfunction, Pc colonization induces inflammatory responses leading to changes in pulmonary function and architecture similar to that seen in emphysema. Information gained from these studies will lead to the development of interventions to prevent lung injury associated with Pc

  18. Anterior Segment Findings in Women with Polycystic Ovary Syndrome

    Science.gov (United States)

    Karaca Adıyeke, Seda; Karaca, Ibrahim; Yıldırım, Suna; Adıyeke, Mehmet; Uyar, İbrahim; Türe, Gamze

    2017-01-01

    Objectives: This study aimed to investigate the anterior segment in women with polycystic ovary syndrome (PCOS) and to compare them with those of healthy reproductive-age female volunteers. Materials and Methods: The study included 50 right eyes of 50 women with PCOS (group 1) and 50 right eyes of 50 healthy women (group 2). Intraocular pressure, Schirmer’s test, tear film break-up time and central corneal thickness were evaluated in all subjects. Correlations between serum hormone (estradiol and testosterone) levels and observed findings were also investigated. Results: Mean central corneal thickness values were significantly higher in the PCOS group (p=0.001). The mean intraocular pressures values were similar between the two groups (p=0.560). Schirmer’s test results and tear film break-up time values were significantly lower in the PCOS group (p=0.001 and p=0.001 respectively). Serum estradiol levels were moderately positively correlated with mean central corneal thickness (r=0.552), weakly positively correlated with intraocular pressure (r=0.351) and weakly negatively correlated with tear film break-up time (r=-0.393). Serum free testosterone levels were weakly correlated with intraocular pressure (r=0.342) and central corneal thickness (r=0.303), and showed weak negative correlations with Schirmer’s test results (r=-0.562) and tear film break-up time (r=-0.502). Conclusion: PCOS leads to physiological and structural changes in the eye. Dry eye symptoms were more severe and central corneal thickness measurements were greater in patients with PCOS. Those are correlated serum testosterone and estradiol levels. PMID:28182154

  19. Anterior Segment Findings in Women with Polycystic Ovary Syndrome

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    Seda Karaca Adıyeke

    2017-01-01

    Full Text Available Objectives: This study aimed to investigate the anterior segment in women with polycystic ovary syndrome (PCOS and to compare them with those of healthy reproductive-age female volunteers. Materials and Methods: The study included 50 right eyes of 50 women with PCOS (group 1 and 50 right eyes of 50 healthy women (group 2. Intraocular pressure, Schirmer’s test, tear film break-up time and central corneal thickness were evaluated in all subjects. Correlations between serum hormone (estradiol and testosterone levels and observed findings were also investigated. Results: Mean central corneal thickness values were significantly higher in the PCOS group (p=0.001. The mean intraocular pressures values were similar between the two groups (p=0.560. Schirmer’s test results and tear film break-up time values were significantly lower in the PCOS group (p=0.001 and p=0.001 respectively. Serum estradiol levels were moderately positively correlated with mean central corneal thickness (r=0.552, weakly positively correlated with intraocular pressure (r=0.351 and weakly negatively correlated with tear film break-up time (r=-0.393. Serum free testosterone levels were weakly correlated with intraocular pressure (r=0.342 and central corneal thickness (r=0.303, and showed weak negative correlations with Schirmer’s test results (r=-0.562 and tear film break-up time (r=-0.502. Conclusion: PCOS leads to physiological and structural changes in the eye. Dry eye symptoms were more severe and central corneal thickness measurements were greater in patients with PCOS. Those are correlated serum testosterone and estradiol levels.

  20. Auditory dysfunction in selected syndromes and patterns of malformations: review and case findings.

    Science.gov (United States)

    Hall, J W; Prentice, C H; Smiley, G; Werkhaven, J

    1995-01-01

    Hundreds of syndromes may be associated with hearing impairment. Within recent years, there has been heightened research and clinical interest in hearing and syndromes, probably due to both advances in molecular genetics and improved techniques for auditory assessment of infants and young children. An example of the current appreciation for the possible relation between auditory dysfunction and syndromes or patterns of malformations is the inclusion of syndromes as a risk factor for hearing impairment by the 1990 Joint Committee on Infant Hearing. In this paper, we review syndromes and patterns of malformation that are frequently or occasionally associated with hearing impairment. In addition, we illustrate, in case studies, auditory findings that may be associated with three of these syndromes and patterns of malformation: Carpenter syndrome, ichthyosiform dermatosis, and Townes syndrome. We conclude with a discussion of strategies for audiologic assessment and management of infants and children with syndromes and patterns of malformations.

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

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    Đerić Dragoslava

    2016-01-01

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

  2. Bronchoscopic findings in Down syndrome children with respiratory problems

    National Research Council Canada - National Science Library

    Pravit, Jetanachai

    2014-01-01

    Down syndrome (DS) can affect the upper and lower respiratory tract in a number of ways and disorders of other systems can impact upon respiratory function, giving rise to a wide variety of respiratory manifestations...

  3. Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia

    Science.gov (United States)

    2009-01-01

    Background Children with Severe Combined Immunodeficiency (SCID) lack autologous T lymphocytes and present with multiple infections early in infancy. Omenn syndrome is characterized by the sole emergence of oligoclonal auto-reactive T lymphocytes, resulting in erythroderma and enteropathy. Omenn syndrome (OS) shares the genetic aetiology of T-B-NK+ SCID, with mutations in RAG1, RAG2, or DCLRE1C. Methods Patients diagnosed with T-B-NK+ SCID or phenotypes suggestive of Omenn syndrome were investigated by molecular genetic studies using gene tightly linked microsatellite markers followed by direct sequencing of the coding regions and splice sites of the respective candidate genes. Results We report the molecular genetic basis of T-B-NK+ SCID in 22 patients and of OS in seven patients all of Arab descent from Saudi Arabia. Among the SCID patients, six (from four families) displayed four homozygous missense mutations in RAG1 including V433M, R624H, R394W, and R559S. Another four patients (from three familes) showed 3 novel homozygous RAG2 mutations including K127X, S18X, and Q4X; all of which predict unique premature truncations of RAG2 protein. Among Omenn patients, four (from two families) have S401P and R396H mutations in RAG1, and a fifth patient has a novel I444M mutation in RAG2. Seven other patients (six SCID and one OS) showed a gross deletion in exons 1-3 in DCLRE1C. Altogether, mutations in RAG1/2 and DCLRE1C account for around 50% and 25%, respectively, in our study cohort, a proportion much higher than in previous reported series. Seven (24%) patients lack a known genetic aetiology, strongly suggesting that they carry mutations in novel genes associated with SCID and Omenn disorders that are yet to be discovered in the Saudi population. Conclusion Mutation-free patients who lack a known genetic aetiology are likely to carry mutations in the regulatory elements in the SCID-causing genes or in novel genes that are yet to be discovered. Our efforts are underway

  4. Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia

    Directory of Open Access Journals (Sweden)

    Al-Kayal Fadi

    2009-11-01

    Full Text Available Abstract Background Children with Severe Combined Immunodeficiency (SCID lack autologous T lymphocytes and present with multiple infections early in infancy. Omenn syndrome is characterized by the sole emergence of oligoclonal auto-reactive T lymphocytes, resulting in erythroderma and enteropathy. Omenn syndrome (OS shares the genetic aetiology of T-B-NK+ SCID, with mutations in RAG1, RAG2, or DCLRE1C. Methods Patients diagnosed with T-B-NK+ SCID or phenotypes suggestive of Omenn syndrome were investigated by molecular genetic studies using gene tightly linked microsatellite markers followed by direct sequencing of the coding regions and splice sites of the respective candidate genes. Results We report the molecular genetic basis of T-B-NK+ SCID in 22 patients and of OS in seven patients all of Arab descent from Saudi Arabia. Among the SCID patients, six (from four families displayed four homozygous missense mutations in RAG1 including V433M, R624H, R394W, and R559S. Another four patients (from three familes showed 3 novel homozygous RAG2 mutations including K127X, S18X, and Q4X; all of which predict unique premature truncations of RAG2 protein. Among Omenn patients, four (from two families have S401P and R396H mutations in RAG1, and a fifth patient has a novel I444M mutation in RAG2. Seven other patients (six SCID and one OS showed a gross deletion in exons 1-3 in DCLRE1C. Altogether, mutations in RAG1/2 and DCLRE1C account for around 50% and 25%, respectively, in our study cohort, a proportion much higher than in previous reported series. Seven (24% patients lack a known genetic aetiology, strongly suggesting that they carry mutations in novel genes associated with SCID and Omenn disorders that are yet to be discovered in the Saudi population. Conclusion Mutation-free patients who lack a known genetic aetiology are likely to carry mutations in the regulatory elements in the SCID-causing genes or in novel genes that are yet to be discovered

  5. Pneumocystis carinii pneumonia in acquired immunodeficiency syndrome - correlation of high-resolution computed tomography and anatomopathology; Pneumocistose na sindrome da imunodeficiencia adquirida: correlacao da tomografia computadorizada de alta resolucao com a anatomopatologia

    Energy Technology Data Exchange (ETDEWEB)

    Marchiori, Edson; Moreira, Luiza Beatriz [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Dept. de Radiologia]. E-mail: edmarchiori@zipmail.com.br; Capone, Domenico [Universidade do Estado, Rio de Janeiro, RJ (Brazil). Faculdade de Medicina; Moraes, Heleno Pinto de [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Dept. de Patologia; Pereira, Cyntia Inez Guedes Soares

    2001-12-01

    We present the main findings observed on the high-resolution computed tomography examinations of 15 patients with acquired immunodeficiency syndrome and Pneumocystis carinii pneumonia. The high-resolution computed tomography and autopsy findings of 5 patients were also compared. The most frequently observed high-resolution computed tomography patterns were ground-glass attenuation, consolidation areas, crazy-paving pattern and cysts. Nodules and intralobular reticulation were less frequently observed. Ground-glass attenuation and consolidation areas corresponded to alveolar filling with inflammatory exudate. Thickening of the interlobular septa was due to cell infiltration and edema. One patient presented interlobular reticulation, and the pathology study revealed alveolar septa thickening due to cell infiltration and fibrosis. Nodules observed in one of the patients corresponded to a patchy intra alveolar accumulation of microorganisms and inflammatory cells forming a 'granulomatous' pattern. (author)

  6. Eradication of hepatitis C virus and non-liver-related non-acquired immune deficiency syndrome-related events in human immunodeficiency virus/hepatitis C virus coinfection.

    Science.gov (United States)

    Berenguer, Juan; Rodríguez-Castellano, Elena; Carrero, Ana; Von Wichmann, Miguel A; Montero, Marta; Galindo, María J; Mallolas, Josep; Crespo, Manuel; Téllez, María J; Quereda, Carmen; Sanz, José; Barros, Carlos; Tural, Cristina; Santos, Ignacio; Pulido, Federico; Guardiola, Josep M; Rubio, Rafael; Ortega, Enrique; Montes, María L; Jusdado, Juan J; Gaspar, Gabriel; Esteban, Herminia; Bellón, José M; González-García, Juan

    2017-08-01

    We assessed non-liver-related non-acquired immunodeficiency syndrome (AIDS)-related (NLR-NAR) events and mortality in a cohort of human immunodeficiency virus (HIV)/hepatitis C virus (HCV)-coinfected patients treated with interferon (IFN) and ribavirin (RBV), between 2000 and 2008. The censoring date was May 31, 2014. Cox regression analysis was performed to assess the adjusted hazard rate (HR) of overall death in responders and nonresponders. Fine and Gray regression analysis was conducted to determine the adjusted subhazard rate (sHR) of NLR deaths and NLR-NAR events considering death as the competing risk. The NLR-NAR events analyzed included diabetes mellitus, chronic renal failure, cardiovascular events, NLR-NAR cancer, bone events, and non-AIDS-related infections. The variables for adjustment were age, sex, past AIDS, HIV transmission category, nadir CD4(+) T-cell count, antiretroviral therapy, HIV RNA, liver fibrosis, HCV genotype, and exposure to specific anti-HIV drugs. Of the 1,625 patients included, 592 (36%) had a sustained viral response (SVR). After a median 5-year follow-up, SVR was found to be associated with a significant decrease in the hazard of diabetes mellitus (sHR, 0.57; 95% confidence interval [CI], 0.35-0.93; P = 0.024) and decline in the hazard of chronic renal failure close to the threshold of significance (sHR, 0.43; 95% CI, 0.17-1.09; P = 0.075). Our data suggest that eradication of HCV in coinfected patients is associated not only with a reduction in the frequency of death, HIV progression, and liver-related events, but also with a reduced hazard of diabetes mellitus and possibly of chronic renal failure. These findings argue for the prescription of HCV therapy in coinfected patients regardless of fibrosis stage. (Hepatology 2017;66:344-356). © 2017 The Authors. Hepatology published by Wiley Periodicals, Inc., on behalf of the American Association for the Study of Liver Diseases.

  7. Bronchogenic carcinoma in acquired immunodeficiency syndrome - report of two cases; Carcinoma broncogenico na sindrome da imunodeficiencia adquirida - relato de dois casos

    Energy Technology Data Exchange (ETDEWEB)

    Siciliano, Antonio Alexandre de Oliveira [Hospital Universitario Clementino Fraga Filho, Rio de Janeiro, RJ (Brazil). Servico de Radiodiagnostico; Melo, Alessandro Severo Alves de; Marchiori, Edson [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Dept. de Radiologia

    1999-12-01

    The authors report two cases of bronchogenic carcinoma in patients with acquired immunodeficiency syndrome. The first patient, a ee-year-old male, developed a left hilar adenocarcinoma, with spleen and bilateral adrenal metastases. The disease progressed unfavourably, resulting in the patient's death in less than a month. The second patient, a 47-year-old male, developed a large mass in the left upper lobe, with invasion of the thoracic wall and destruction of adjacent ribs. The histopathologic study revealed a non-oat-cell carcinoma. Both patients received palliative treatment since diagnosis was established late in the course of the disease. Recent studies suggest an association between bronchogenic carcinoma and human immunodeficiency virus infection. However, an actual increase in the prevalence of bronchogenic carcinoma in HIV-positive patients remains controversial. (author)

  8. Monocyte function in intravenous drug abusers with lymphadenopathy syndrome and in patients with acquired immunodeficiency syndrome: selective impairment of chemotaxis.

    Science.gov (United States)

    Poli, G; Bottazzi, B; Acero, R; Bersani, L; Rossi, V; Introna, M; Lazzarin, A; Galli, M; Mantovani, A

    1985-01-01

    We have investigated monocyte function in 17 intravenous drug abusers with the clinical and laboratory features of lymphadenopathy syndrome (LAS). LAS patients had normal numbers of circulating monocytes. Monocytes from LAS patients were comparable to cells from normal donors in terms of phagocytosis of latex beads, interleukin-1 secretion, O2- release and killing of antibody-sensitized lymphoma cells or actinomycin D pretreated WEHI 164 cells. In contrast 13 out of 17 LAS subjects tested in this respect as well as six out of nine AIDS patients showed a marked defect of monocyte chemotaxis. Thus monocytes from patients with LAS or AIDS have a selective defect of monocyte chemotaxis. PMID:2998656

  9. Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Koch, Bernadette; Egelhoff, John; Benton, Corning [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati (United States); Goold, Amy [Tripler Army Medical Center, Family Practice, Honolulu, HI (United States)

    2006-09-15

    We report a case of bilateral partial absence of the posterior semicircular canals (with normal lateral semicircular canals) imaged with CT in a patient with Alagille syndrome. Similar histologic findings have been reported in the pathology literature. This association has been previously reported only for Waardenburg syndrome in the imaging literature. We review the imaging findings and embryology of the semicircular canals, and suggest that this abnormality is specific to patients with Alagille or Waardenburg syndrome. (orig.)

  10. Mazabraud's syndrome. New clinical case and review of findings.

    Science.gov (United States)

    Ramírez Mejía, Alex Roberto; Moreno Casado, María José; Ahumada Pavez, Nicolás Rodrigo; Rojas Soldado, María Ángeles

    Intramuscular myxomas are benign and rare tumors that affects predominantly the lower limbs. The association of myxomas and fibrous dysplasia, usually polyostotic, is rarer. This association is known as Mazabraud's syndrome, of which about 81 cases have been described in the literature. We present a new case of this uncommon association to emphasise the importance of recognizing this syndrome in the diagnosis and appropriate management of the patient. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  11. McCune-Albright syndrome: radiological and MR findings.

    Science.gov (United States)

    Yongjing, G; Huawei, L; Zilai, P; Bei, D; Hao, J; Kemin, C

    2001-01-01

    McCune-Albright syndrome (MAS) is a non-inherited disorder due to the GNAS1 gene mutation. The syndrome is characterized with the triad of polyostotic fibrous dysplasia, pigmented skin lesions, endocrinopathy, and precocious puberty. We report the case of a 14-year-old boy, presenting with sclerotic type of polyostotic fibrous dysplasia. Radiological methods including plain X-ray film, MR and whole body bone scintigraphy suggested the diagnosis of MAS. MRI provided more directly perceived images and it was more sensitive in demonstrating the lesion: its shape, contents, especially the size of the affected region. Histopathological study and the identification of mutant gene finally confirmed the diagnostic result.

  12. Epidemiology of non-keratinocytic skin cancers among persons with acquired immunodeficiency syndrome in the U.S.

    Science.gov (United States)

    Lanoy, Emilie; Dores, Graça M.; Madeleine, Margaret M.; Toro, Jorge R.; Fraumeni, Joseph F.; Engels, Eric A.

    2009-01-01

    Objective Immunosuppression may increase risk for some skin cancers. We evaluated skin cancer epidemiology among persons with acquired immunodeficiency syndrome (AIDS). Design We linked data from population-based U.S. AIDS and cancer registries to evaluate risk of non-keratinocytic skin cancers (melanoma, Merkel cell carcinoma, and appendageal carcinomas, including sebaceous carcinoma) in 497,142 persons with AIDS. Methods Standardized incidence ratios (SIRs) were calculated to relate skin cancer risk to that in the general population. We used logistic regression to compare risk according to demographic factors, CD4 count, and a geographic index of ultraviolet radiation exposure. Results From 60 months before to 60 months after AIDS onset, persons with AIDS had elevated risks of melanoma (SIR=1.3, 95%CI 1.1-1.4, n=292 cases) and, more strongly, of Merkel cell carcinoma (SIR=11, 95%CI 6.3-17, n=17) and sebaceous carcinoma (SIR=8.1, 95%CI 3.2-17, n=7). Risk for appendageal carcinomas increased with progressive time relative to AIDS onset (p-trend=0.03). Risk of these skin cancers was higher in non-Hispanic whites than other racial/ethnic groups, and melanoma risk was highest among men who have sex with men. Melanoma risk was unrelated to CD4 count at AIDS onset (p=0.32). Risks for melanoma and appendageal carcinomas rose with increasing ultraviolet radiation exposure (p-trend<10-4 and p-trend=10-3, respectively). Conclusions Among persons with AIDS, there is a modest excess risk of melanoma which is not strongly related to immunosuppression and may relate to ultraviolet radiation exposure. In contrast, the greatly increased risks for Merkel cell and sebaceous carcinoma suggest an etiologic role for immunosuppression. PMID:19114864

  13. The hypertriglyceridemia of acquired immunodeficiency syndrome is associated with an increased prevalence of low density lipoprotein subclass pattern B

    Energy Technology Data Exchange (ETDEWEB)

    Feingold, K.R.; Krauss, R.M.; Pang, M.; Doerrler, W.; Jensen, P.; Grunfeld, C. (Univ. of California, San Francisco (United States) Lawrence Berkeley Lab., CA (United States))

    1993-06-01

    To better define the role of environmental factors on LDL phenotypic expression, the authors determined LDL patterns in patients with acquired immunodeficiency syndrome (AIDS), and infection characterized by hypertriglyceridemia and weight loss. Similar to previous studies, plasma triglyceride levels were increased, whereas plasma cholesterol, LDL cholesterol, and HDL cholesterol levels were decreased in the AIDS subjects compared to those in age-matched controls. The percentage of AIDS subjects with the LDL B phenotype was increased 2.5-fold, demonstrating an increased prevalence of the LDL B phenotype in an acquired form of hypertriglyceridemia. For each LDL phenotype in AIDS, serum triglyceride levels were higher than the same phenotypic pattern in controls, with the most marked elevations in triglycerides found in AIDS subjects with the LDL B phenotype. In contrast to what was observed in controls, HDL cholesterol levels were decreased in all AIDS subjects and were unrelated to LDL pattern. Total and LDL cholesterol levels were higher in controls with the LDL B phenotype than in those with the LDL A phenotype, but there was no difference in total and LDL cholesterol in AIDS subjects with LDL B compared to A. On multiple regression analysis in subjects with AIDS, plasma triglyceride levels, age, and HDL cholesterol all contribute to the occurrence of the LDL B phenotype, but elevations in plasma triglyceride levels are the strongest independent predictor. Body mass index was not a predictor of LDL B phenotype in AIDS. These results suggest that disturbances in triglyceride metabolism that are caused by AIDS lead to the appearance of the LDL subclass B phenotype and provide further evidence that environmental or disease states that perturb lipid metabolism can produce an increased prevalence of the LDL B phenotype. 35 refs., 1 fig., 5 tabs.

  14. Postnatal cranial ultrasonographic findings in feto-fetal transfusion syndrome.

    NARCIS (Netherlands)

    Breysem, L.; Naulaers, G.; Deprest, J.; Schoubroeck, D.V.; Daniels, H.; Lammens, M.M.Y.; Smet, M.H.

    2002-01-01

    Our objective was a retrospective evaluation of cranial US in survivors of twin pregnancy with feto-fetal transfusion syndrome (FFTS), with knowledge of prenatal treatment and neonatal/postnatal clinical data. In 18 pregnancies with FFTS (January 1996 to May 2000), pregnancy management and outcome,

  15. Clinical, paraclinical and serological findings in Susac syndrome

    DEFF Research Database (Denmark)

    Jarius, Sven; Kleffner, Ilka; Dörr, Jan M

    2014-01-01

    BACKGROUND: Susac syndrome (SuS) is a rare disorder thought to be caused by autoimmune-mediated occlusions of microvessels in the brain, retina and inner ear leading to central nervous system (CNS) dysfunction, visual disturbances due to branch retinal artery occlusions (BRAO), and hearing defici...

  16. Iliac vein compression syndrome: Clinical, imaging and pathologic findings

    Institute of Scientific and Technical Information of China (English)

    Katelyn; N; Brinegar; Rahul; A; Sheth; Ali; Khademhosseini; Jemianne; Bautista; Rahmi; Oklu

    2015-01-01

    May-Thurner syndrome(MTS) is the pathologic compression of the left common iliac vein by the right common iliac artery, resulting in left lower extremity pain, swelling, and deep venous thrombosis. Though this syndrome was first described in 1851, there are currently no standardized criteria to establish the diagnosis of MTS. Since MTS is treated by a wide array of specialties, including interventional radiology, vascular surgery, cardiology, and vascular medicine, the need for an established diagnostic criterion is imperative in order to reduce misdiagnosis and inappropriate treatment. Although MTS has historically been diagnosed by the presence of pathologic features, the use of dynamic imaging techniques has led to a more radiologic based diagnosis. Thus, imaging plays an integral part in screening patients for MTS, and the utility of a wide array of imaging modalities has been evaluated. Here, we summarize the historical aspects of the clinical features of this syndrome. We then provide a comprehensive assessment of the literature on the efficacy of imaging tools available to diagnose MTS. Lastly, we provide clinical pearls and recommendations to aid physicians in diagnosing the syndrome through the use of provocative measures.

  17. Turner Syndrome: Neuroimaging Findings--Structural and Functional

    Science.gov (United States)

    Mullaney, Ronan; Murphy, Declan

    2009-01-01

    Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including…

  18. Influence of educational status and other variables on human immunodeficiency virus risk perception among military personnel: a large cohort finding.

    Science.gov (United States)

    Essien, E James; Ogungbade, Gbadebo O; Ward, Doriel; Ekong, Ernest; Ross, Michael W; Meshack, Angela; Holmes, Laurens

    2007-11-01

    Human immunodeficiency virus (HIV) risk perception remains an effective determinant of HIV transmission. Although higher educational attainment has been associated with increased HIV risk perception, this predictor remains to be assessed among Nigerian military personnel (NMP). In a prospective cohort of 2,213 NMP, the effects of education and other factors on HIV risk perception were assessed at baseline by using the X2 statistic and unconditional logistic regression. There was an inverse correlation between higher educational attainment and HIV risk perception in the univariate model (prevalence odds ratio, 0.64; 95% confidence interval, 0.52-0.79). This association persisted after adjustment for relevant covariates in the multivariate model (prevalence odds ratio, 0.70; 95% confidence interval, 0.56-0.88). Similarly, there was a direct correlation between use of alcohol and marijuana and HIV risk perception (p 0.05). This study indicates an inverse correlation between educational attainment and HIV risk perception, as well as a direct correlation between alcohol and marijuana use and HIV risk perception, among NMP. Therefore, HIV prevention interventions targeted at NMP need to include multiple factors that may affect risk perception regardless of the educational status of the participants.

  19. Eight-year observation and comparative study of specific pathogen-free cats experimentally infected with feline immunodeficiency virus (FIV) subtypes A and B: terminal acquired immunodeficiency syndrome in a cat infected with FIV petaluma strain.

    Science.gov (United States)

    Kohmoto, M; Uetsuka, K; Ikeda, Y; Inoshima, Y; Shimojima, M; Sato, E; Inada, G; Toyosaki, T; Miyazawa, T; Doi, K; Mikami, T

    1998-03-01

    Three specific pathogen-free cats experimentally infected with feline immunodeficiency virus (FIV) strains Petaluma, TM1 and TM2, respectively were observed for over 8 years. Without showing any significant clinical signs of immunodeficiency syndrome (AIDS) for 8 years and 4 months of asymptomatic phase, the Petaluma-infected cat exhibited severe stomatitis/gingivitis, anorexia, emaciation, hematological and immunological disorders such as severe anemia, lymphopenia, thrombocytopenia, and decrease of CD4/CD8 ratio to 0.075, and finally died with hemoperitoneum at 8 years and 8 months post-infection. Histopathological studies revealed that the cat had systemic lymphoid atrophy and bone marrow disorders indicating acute myelocytic leukemia (aleukemic type). Plasma viral titer of the cat at AIDS phase was considerably high and anti-FIV antibody titer was slightly low as compared with the other FIV-infected cats. In addition, immunoblotting analysis using serially collected serum/plasma samples of these cats revealed that antibodies against FIV proteins were induced in all the infected cats, however in the Petaluma-infected cat anti-Gag antibodies disappeared during the asymptomatic period. These results suggested that plasma viral load and anti-FIV Gag antibody response correlated with disease progression, and supported FIV-infected cats as a suitable animal model of human AIDS.

  20. The physical activity levels among people living with human immunodeficiency virus/acquired immunodeficiency syndrome receiving high active antiretroviral therapy in Rwanda.

    Science.gov (United States)

    Frantz, J M; Murenzi, A

    2013-01-01

    The accessibility of high active antiretroviral therapy (HAART) for local human immunodeficiency virus (HIV) patients is improving in Rwanda. It is well known that this therapy is associated with serious adverse effects, such as metabolic and morphologic changes. One of the recommended preventive modalities for these complications is participation in physical activity. The current study aims to determine the anthropometric profile and physical activity levels among people living with HIV and receiving HAART in Kigali, Rwanda. The study was a cross-sectional, descriptive quantitative survey. The participant's levels of physical activity participation and their association with anthropometric profiles were measured, using a structured self-administered questionnaire for 407 clients passing through the clinics. Of the participants, approximately 70% were inactive and in addition, 40% were obese and 43% overweight. Obesity was found to be strongly associated with inactivity. Lack of motivation, and time as well as fear of worsening the disease were found to be barriers to participation in physical activity.

  1. Nocardiose pulmonar em paciente com síndrome da imunodeficiência adquirida: relato de caso Pulmonary nocardiosis in a patient with acquired immunodeficiency syndrome: case report

    Directory of Open Access Journals (Sweden)

    Ana Carina Gamboa da Silva

    2002-07-01

    Full Text Available Os autores descrevem um caso de nocardiose pulmonar em um homem de 37 anos de idade com a síndrome da imunodeficiência adquirida, em tratamento com anti-retrovirais, cujos sintomas de apresentação foram tosse com expectoração, hemoptóicos e emagrecimento progressivo. Foi realizada radiografia do tórax, que demonstrou consolidação no lobo superior do pulmão direito, e tomografia computadorizada do tórax, que evidenciou consolidação pulmonar com áreas escavadas. Diante dos achados radiológicos inespecíficos, foi realizada broncoscopia com lavado broncoalveolar, evidenciando estruturas filamentosas Gram-positivas compatíveis com Nocardia sp. O tratamento utilizado foi sulfametoxazol-trimetoprim, com remissão completa do quadro respiratório. Após revisão da literatura, foram discutidos os principais aspectos radiológicos desta doença.The authors describe a case of pulmonary nocardiosis in a 37-year-old man with acquired immunodeficiency syndrome in treatment with antiretroviral drugs. Clinical symptoms were productive cough, hemoptysis and progressive weight loss. A chest x-ray film showed a right upper lobe consolidation while the computed tomography demonstrated consolidation and areas of cavitation. The radiologic findings were unspecific. Consequently, a bronchoscopy with bronchoalveolar lavage was performed, revealing filamentous Gram-positive bacteria (Nocardia sp. Treatment with trimethoprim-sulfamethoxazole resulted in complete remission of the respiratory symptoms. The authors review the literature and discuss the main radiological features of this disease.

  2. The earliest cases of human immunodeficiency virus type 1 group M in Congo-Kinshasa, Rwanda and Burundi and the origin of acquired immune deficiency syndrome.

    Science.gov (United States)

    Vangroenweghe, D

    2001-06-29

    The early cases of acquired immune deficiency syndrome and human immunodeficiency virus type 1 (HIV-1) infection in the 1960s and 1970s in Congo-Kinshasa (Zaire), Rwanda and Burundi are reviewed. These countries appear to be the source of the HIV-1 group M epidemic, which then spread outwards to neighbouring Tanzania and Uganda in the east, and Congo-Brazzaville in the west. Further spread to Haiti and onwards to the USA can be explained by the hundreds of single men from Haiti who participated in the UNESCO educational programme in the Congo between 1960 and 1975.

  3. Radioimmunoassay and enzyme-linked immunoassay of antibodies to the core protein (P24) of human T-lymphotropic virus (HTLV III). [Acquired immunodeficiency syndrome (AIDS)

    Energy Technology Data Exchange (ETDEWEB)

    Neurath, A.R.; Strick, N.; Sproul, P.

    1985-05-01

    Human T-cell lymphotropic viruses designated HTLV III or LAV are considered to represent the causative agents of the acquired immunodeficiency syndrome (AIDS). Therefore a simple direct RIA or ELISA method for antibodies to distinct epitopes of HTLV III/LAV structural components would be of great value. The authors describe RIA and ELISA assays which obviate the need for purified virus or virus proteins, do not utilize infected cells and thus do not diminish the source for continuous production of viral antigens and are specific for a major core protein of HTLV III/LAV.

  4. Skin Findings in a Patient with Sjogren's Syndrome

    Science.gov (United States)

    Khandelwal, Sonali

    2016-01-01

    Hypergammaglobulinemic purpura (HGP) is a syndrome constellating recurrent purpura, hypergammaglobulinemia, positive rheumatoid factor (RF), anti-Ro/La antibodies, and elevated erythrocyte sedimentation rate (ESR). We present a case of a 29-year-old female who was diagnosed with Sjogren's syndrome four years prior to presenting with rash on her lower extremities for a period of 6 months. Skin biopsy at the initial visit was consistent with leukocytoclastic vasculitis and was initiated on treatment for it. Her rash evolved into 2–5 mm scattered purpurae while she was on the treatment and a repeat biopsy showed extravasation of RBCs, a sparse mononuclear infiltrate with deposition of plasma cells, and no evidence of leukocytoclastic vasculitis, thus showing a transition from neutrophilic to mononuclear inflammatory vascular disease which is a rare occurrence. Hypergammaglobulinemic purpura sometimes turns out to be a challenging disease to manage and requires an integrated effort from the primary care doctors, rheumatologist, and dermatologist. PMID:27672471

  5. Medical imaging findings in Cobb syndrome: two case reports

    Institute of Scientific and Technical Information of China (English)

    WANG Guang-bin; XU Lei; ZHAO Bin; CAI Shi-feng; SHI Hao; LI Hui-hua; QU Lei

    2005-01-01

    @@ Cobb syndrome, also known as cutaneomeningospinal angiomatosis, is a rare clinical entity characterized by the combination of a vascular skin nevus and an angioma in the spinal canal at the same metamere.1 It was first described by Berenbruch in 1890 and did not receive recognition until Cobb's description2 in 1915. Only few documents about this disease had been reported.1 We present two cases here and review the other reported cases.

  6. Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families

    Science.gov (United States)

    Júnior, Hercílio-Martelli; Machado, Renato-Assis; Leão, Letícia-Lima; Coletta, Ricardo- Della; Burle-Aguiar, Marcos-José

    2015-01-01

    Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR sequencing of FGFR1 exon 5 and FGFR2 exons 5, 8, 10, 11, 15, and 16. The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS. Key words:Craniosynostosis, Pfeiffer syndrome, mutation, FGFR2. PMID:25129254

  7. Treatment of Lennox-Gastaut syndrome: overview and recent findings

    Directory of Open Access Journals (Sweden)

    Kenou van Rijckevorsel

    2008-11-01

    Full Text Available Kenou van RijckevorselReference Centre of Refractory Epilepsy, Cliniques Universitaires St Luc, Université Catholique de Louvain, Brussels, BelgiumAbstract: Lennox-Gastaut syndrome (LGS is a rare, age-related syndrome, characterized by multiple seizure types, a specific electro-encephalographic pattern, and mental regression. However, published data on the etiology, evolution, and therapeutic approach of LGS are contradictory, partly because the precise definition of LGS used in the literature varies. In the most recent classification, LGS belongs to the epileptic encephalopathies and is highly refractory to all antiepileptic drugs. Numerous treatments, medical and non-medical, have been proposed and results mostly from open studies or case series have been published. Sometimes, patients with LGS are included in a more global group of patients with refractory epilepsy. Only 6 randomized double-blind controlled trials of medical treatments, which included patients with LGS, have been published. Overall, treatment is rarely effective and the final prognosis remains poor in spite of new therapeutic strategies. Co-morbidities need specific treatment. This paper summarizes the definition, diagnosis and therapeutic approach to LGS, including not only recognized antiepileptic drugs, but also “off label” medications, immune therapy, diet, surgery and some perspectives for the future.Keywords: Lennox-Gastaut syndrome, treatment, VNS, surgery, epileptic encephalopathies, LGS, refractory

  8. Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.

    Directory of Open Access Journals (Sweden)

    Nicholas L Rider

    2015-01-01

    Full Text Available Unbiased genetic diagnosis has increasingly associated seemingly unrelated somatic and immunological phenotypes. We report a male infant who presented within the first year of life with physical growth impairment, feeding difficulties, hyperemesis without diarrhea, and abnormal hair findings suggestive of trichorrhexis nodosa. With advancing age, moderate global developmental delay, susceptibility to frequent viral illnesses, otitis media and purulent conjunctivitis were identified. Because of the repeated infections an immunological evaluation was pursued and identified impaired antibody memory responses following pneumococcal vaccine administration. Immunoglobulin replacement therapy and nutritional support were employed as mainstays of therapy. The child is now aged 12 years and still without diarrhea. Whole exome sequencing identified compound heterozygous mutations in the TTC37 gene, a known cause of the Trichohepatoenteric Syndrome (THES. This case extends the known phenotype of THES and defines a potential subset for inclusion as an immune overlap syndrome.

  9. Dental findings in Saethre-Chotzen syndrome (acrocephalosyndactyly type III): report of case.

    Science.gov (United States)

    Goho, C

    1998-01-01

    Saethre-Chotzen syndrome is characterized primarily by facial and digital anomalies. This case report describes multiple dental anomalies in a patient with Saethre-Chotzen, not reported in previous descriptions of the syndrome. These features are teeth with broad, bulbous crowns, thin, narrow tapering roots, and diffuse pulp stones in the pulp chambers of all posterior teeth. These dental findings, along with being associated with the syndrome, may influence dental care for these patients.

  10. Dental findings in patients with West syndrome: a report of two cases.

    Science.gov (United States)

    Khatri, Amit; Kalra, Namita; Tyagi, Rishi; Baweja, Mani; Khandelwal, Deepak

    2014-01-01

    West syndrome a rare, severe form of epilepsy occurs in early infancy. It is characterized by a triad consisting of infantile spasms that occurs in clusters, arrest of psychomotor development and hypsarrhythmia on electroencephalogram. We present here two cases of west syndrome where patients required dental care due to the presence of certain dental findings. Preventive measurements such as controlled diet and proper oral hygiene along with professional dental management are recommended in patients with west syndrome to avoid dental problems.

  11. Radiographic findings in patients with clinical Tietze syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Jurik, A.G.; Justesen, T.; Graudal, H.

    1987-10-01

    Thirteen patients with similar painful tender swelling in the region of the sternocostal joint (SCJ) are reported. X-ray tomography revealed changes which might explain the swelling in 11 patients. Three patients had anatomical variants of the sternum. One of these and a further two patients had marginal osteophytes at the affected SCJ, as signs of osteoarthrosis. Six patients with psoriasis, pustulosis palmoplantaris, or psoriasis in the family had past or present arthritis of the involved SCJ or the manubriosternal joint. Tomography was found to be a useful confirmatory examination in patients with clinical Tietze syndrome.

  12. Atypical Manifestation of LPS-Responsive beige- like anchor (LRBA Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency.

    Directory of Open Access Journals (Sweden)

    Shahrzad Bakhtiar

    2016-09-01

    Full Text Available Monogenic primary immunodeficiency syndromes can affect one or more endocrine organs by autoimmunity during childhood. Clinical manifestations include type1 diabetes mellitus, hypothyroidism, adrenal insufficiency and vitiligo. LPS-responsive beige-like anchor protein (LRBA deficiency was described in 2012 as a novel primary immunodeficiency, predominantly causing immune dysregulation and early onset enteropathy. We describe the heterogeneous clinical course of LRBA deficiency in two siblings, mimicking an autoimmune polyendocrine disorder in one of them in presence of the same underlying genetic mutation. The third child of consanguineous Egyptian parents (Patient 1 presented at six months of age with intractable enteropathy and failure to thrive. Later on he developed symptoms of adrenal insufficiency, autoimmune haemolytic anaemia, thrombocytopenia, and infectious complications due to immunosuppressive treatment. The severe enteropathy was non-responsive to the standard treatment and led to death at the age of 22 years. His younger sister (Patient 2 presented at the age of 12 to the endocrinology department with decompensated hypothyroidism, perioral vitiligo, delayed pubertal development, and growth failure without enteropathy and immunodeficiency.Using whole-exome sequencing (WES we identified a homozygous frameshift mutation (c.6862delT, p.Y2288MfsX29 in the LRBA gene in both siblings. To our knowledge our patient (patient 2 is the first case of LRBA deficiency described with predominant endocrine phenotype without immunodeficiency and enteropathy. LRBA deficiency should be considered as underlying disease in pediatric patients presenting with autoimmune endocrine symptoms. The same genetic mutation can manifest with a broad phenotypic spectrum without genotype-phenotype correlation. The awareness for disease symptoms among non-immunologists might be a key to early diagnosis. Further functional studies in LRBA deficiency are necessary to

  13. Radial tunnel syndrome. Findings and treatment in 17 patients

    Directory of Open Access Journals (Sweden)

    Gustavo Alberto Breglia

    2015-05-01

    Full Text Available Backround Radial tunnel syndrome is a condition secondary to the intermittent entrapment of the posterior interosseous nerve between superficial and deep mass of short supinator adjacent structures, such as vessels and fascias. The purpose of this study was to identify the anatomical structures that produce the eventual compression, to establish and communicate the differences in the subjective pain perception before and after the release of the posterior interosseous nerve in the radial tunnel. Method Between 2009 and 2014, 17 patients underwent surgical treatment by posterior interosseous nerve release. We used the approach between the first external radial and brachioradialis. Patients were assessed by visual analogue scale for pain intensity before surgery and at week 6, and according to the Roles and Maudsley functional criteria. Results The causes of posterior interosseous nerve compression were fibrous band of short supinator (arcade of Frohse (7 cases, recurrent vessels (4 cases, compression by the mass of the superficial portion of the short supinator muscle (2 cases and secondary compression by extensor carpi radialis brevis tendon (4 cases. Results were excellent (4 patients, good (10 patients and fair (3 patients. Patients treated through the Labor Risk Insurance had worse outcomes than those who were not covered by this system. Conclusions Radial tunnel syndrome is a condition that must be taken into account when there is refractory lateral epicondylalgia. This disease has a marked effect in patients with labor conflict, which may bias the outcome of treatment.

  14. Atypical Findings of Guillain-Barré Syndrome in Children

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    Parvaneh KARIMZADEH

    2012-10-01

    Full Text Available ObjectiveGuillain-Barre syndrome (GBS is an immune-mediated polyneuropathy that occurs mostly after prior infection. The diagnosis of this syndrome is dependent heavily on the history and examination, although cerebrospinal fluid analysis and electrodiagnostic testing usually confirm the diagnosis. This is a retrospective study which was performed to investigate the atypical features of GBS.Materials & MethodsThirty three patients (21/63.6% males and 12/36.4% females with GBS were retrospectively studied and prospectively evaluated at the Child Neurology institute of Mofid Children Hospital of Shahid Beheshti University of Medical Sciences between May 2011 and September 2012.ResultsThe mean age was 5.4 years (range, 1.5-10.5.Twenty one patients (87.9 % had previous history of infections. Eight patients (24.2% admitted with atypical symptoms like upper limb weakness (3%, ptosis (3%, neck stiffness (3%, inability to stand (proximal weakness (9.1%, headache (3% and dysphagia (3%.According to disease process, weakness was ascending in 26 (78.8%, descending in 5 (15.2% and static in 2 (6.1% patients. Cranial nerve involvement was found in 8(24.3% children, most commonly as facial palsy in 3 (9.1%.ConclusionIn this study, 24.3% of our patients presented with atypical symptoms of GBS as upper limb weakness, ptosis, neck stiffness, inability to stand (proximal weakness, headache and dysphagia

  15. Skin Findings in a Patient with Sjogren’s Syndrome

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    Prajwal Boddu

    2016-01-01

    Full Text Available Hypergammaglobulinemic purpura (HGP is a syndrome constellating recurrent purpura, hypergammaglobulinemia, positive rheumatoid factor (RF, anti-Ro/La antibodies, and elevated erythrocyte sedimentation rate (ESR. We present a case of a 29-year-old female who was diagnosed with Sjogren’s syndrome four years prior to presenting with rash on her lower extremities for a period of 6 months. Skin biopsy at the initial visit was consistent with leukocytoclastic vasculitis and was initiated on treatment for it. Her rash evolved into 2–5 mm scattered purpurae while she was on the treatment and a repeat biopsy showed extravasation of RBCs, a sparse mononuclear infiltrate with deposition of plasma cells, and no evidence of leukocytoclastic vasculitis, thus showing a transition from neutrophilic to mononuclear inflammatory vascular disease which is a rare occurrence. Hypergammaglobulinemic purpura sometimes turns out to be a challenging disease to manage and requires an integrated effort from the primary care doctors, rheumatologist, and dermatologist.

  16. Cervical involvement in SAPHO syndrome: imaging findings with a 10-year follow-up

    Energy Technology Data Exchange (ETDEWEB)

    Tohme-Noun, C.; Krainik, A.; Menu, Y. [Department of Radiology, Hopital Beaujon, AP HP, Universite Paris 7, Faculte de medecine Bichat-Beaujon, Paris (France); Feydy, A. [Department of Radiology, Hopital Beaujon, AP HP, Universite Paris 7, Faculte de medecine Bichat-Beaujon, Paris (France); Department of Radiology, Hopital Beaujon, 100 avenue du General Leclerc, 92118, Clichy (France); Belmatoug, N.; Fantin, B. [Department of Internal Medicine, Hopital Beaujon, AP HP, Universite Paris 7, Faculte de medecine Bichat-Beaujon, Paris (France)

    2003-02-01

    Osteoarticular manifestations of SAPHO syndrome include vertebral lesions, typically in the thoracic segment. Chronic inflammatory changes are well depicted by MRI. We report the imaging findings with a 10-year follow-up in a case of SAPHO syndrome with marked cervical lesions. (orig.)

  17. Epidemiological aspects of acquired immunodeficiency syndrome in older Brazilians: a comparative approach

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    Luiz Max Fagundes de Carvalho

    Full Text Available OBJECTIVES: To compare epidemiological aspects of young (15 to 49 years old and older (more than 50 years old AIDS patients. METHODS: We analyzed 511,633 AIDS cases notified to the Brazilian Ministry of Health in the period of 1980-2008 looking at sex, age ranges, educational level and exposure category. Patients were divided into three age groups: under 15, from 15 to 49 and over 50 years old. Using a comparative approach, we analyzed data with regard to category of exposure, education (expressed in years of schooling, and sex ratio among younger (15-49 and older adults (over 50 years old. Time series data were log-transformed and normalized, and the temporal trend was evaluated. RESULTS: AIDS incidence is increasing among people over 50 years old in Brazil, with those older than 50 being responsible for 9.64 % of AIDS cases. There was no significant difference between educational level and gender (p = 0.468, but there was a significant difference in exposure category with a lower proportion of injecting drug users amongst the older group. CONCLUSION: Based on this analysis over the last 10 years, the percentage of AIDS cases has increased almost three times among people over 50 years old when compared with the 15-49 year-old group. Our findings suggest that public campaigns have to be specially targeted to the older segment of the population, aiming at heterosexual transmission.

  18. Epidemiological aspects of acquired immunodeficiency syndrome in older Brazilians: a comparative approach

    Directory of Open Access Journals (Sweden)

    Luiz Max Fagundes de Carvalho

    2012-02-01

    Full Text Available OBJECTIVES: To compare epidemiological aspects of young (15 to 49 years old and older (more than 50 years old AIDS patients. METHODS: We analyzed 511,633 AIDS cases notified to the Brazilian Ministry of Health in the period of 1980-2008 looking at sex, age ranges, educational level and exposure category. Patients were divided into three age groups: under 15, from 15 to 49 and over 50 years old. Using a comparative approach, we analyzed data with regard to category of exposure, education (expressed in years of schooling, and sex ratio among younger (15-49 and older adults (over 50 years old. Time series data were log-transformed and normalized, and the temporal trend was evaluated. RESULTS: AIDS incidence is increasing among people over 50 years old in Brazil, with those older than 50 being responsible for 9.64 % of AIDS cases. There was no significant difference between educational level and gender (p = 0.468, but there was a significant difference in exposure category with a lower proportion of injecting drug users amongst the older group. CONCLUSION: Based on this analysis over the last 10 years, the percentage of AIDS cases has increased almost three times among people over 50 years old when compared with the 15-49 year-old group. Our findings suggest that public campaigns have to be specially targeted to the older segment of the population, aiming at heterosexual transmission.

  19. Insomnia is a frequent finding in adults with Asperger syndrome

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    von Wendt Lennart

    2003-10-01

    Full Text Available Abstract Background Asperger syndrome (AS is a neurodevelopmental disorder belonging to autism spectrum disorders with prevalence rate of 0,35% in school-age children. It has been most extensively studied in childhood while there is scarcity of reports concerning adulthood of AS subjects despite the lifelong nature of this syndrome. In children with Asperger syndrome the initiation and continuity of sleep is disturbed because of the neuropsychiatric deficits inherent of AS. It is probable that sleep difficulties are present in adulthood as well. Our hypothesis was that adults with AS suffer from difficulty in initiating and maintaining sleep and nonrestorative sleep (insomnia. Methods 20 AS without medication were compared with 10 healthy controls devoid of neuropsychiatric anamnesis. Clinical examination, blood test battery and head MRI excluded confounding somatic illnesses. Structured psychiatric interview for axis-I and axis-II disorders were given to both groups as well as Beck Depression Inventory and Wechsler adult intelligence scale, revised version. Sleep quality was assessed with sleep questionnaire, sleep diary during 6 consecutive days and description of possible sleep problems by the participants own words was requested. Results compared with controls and with normative values of good sleep, AS adults had frequent insomnia. In sleep questionnaire 90% (18/20, in sleep diary 75% (15/20 and in free description 85% (17/20 displayed insomnia. There was a substantial psychiatric comorbidity with only 4 AS subject devoid of other axis-I or axis-II disorders besides AS. Also these persons displayed insomnia. It can be noted that the distribution of psychiatric diagnoses in AS subjects was virtually similar to that found among patient with chronic insomnia. Conclusions the neuropsychiatric deficits inherent of AS predispose both to insomnia and to anxiety and mood disorders. Therefore a careful assessment of sleep quality should be an

  20. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

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    Bari J Ballew

    2013-08-01

    Full Text Available Dyskeratosis congenita (DC is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH is a clinically severe variant of DC in which patients also have cerebellar hypoplasia and may present with severe immunodeficiency and enteropathy. We discovered a germline autosomal recessive mutation in RTEL1, a helicase with critical telomeric functions, in two unrelated families of Ashkenazi Jewish (AJ ancestry. The affected individuals in these families are homozygous for the same mutation, R1264H, which affects three isoforms of RTEL1. Each parent was a heterozygous carrier of one mutant allele. Patient-derived cell lines revealed evidence of telomere dysfunction, including significantly decreased telomere length, telomere length heterogeneity, and the presence of extra-chromosomal circular telomeric DNA. In addition, RTEL1 mutant cells exhibited enhanced sensitivity to the interstrand cross-linking agent mitomycin C. The molecular data and the patterns of inheritance are consistent with a hypomorphic mutation in RTEL1 as the underlying basis of the clinical and cellular phenotypes. This study further implicates RTEL1 in the etiology of DC/HH and immunodeficiency, and identifies the first known homozygous autosomal recessive disease-associated mutation in RTEL1.

  1. Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

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    MARIE SUELY K.NAGAHASHI

    1999-01-01

    Full Text Available We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.

  2. Substantia nigra hypoechogenicity: definition and findings in restless legs syndrome.

    Science.gov (United States)

    Godau, Jana; Schweitzer, Katherine J; Liepelt, Inga; Gerloff, Christian; Berg, Daniela

    2007-01-15

    Pathological studies demonstrate a decreased iron content in the substantia nigra (SN) contributing to the pathophysiology of restless legs syndrome (RLS). SN echogenicity as measured by transcranial sonography (TCS) correlates with the SN iron content. The objective of this study was to determine a critical value to define SN hypoechogenicity as a potential marker for RLS. There were 49 RLS patients (39 idiopathic, 10 secondary) and 49 age- and sex-matched controls who underwent TCS by 2 independent and blinded examiners to determine the area of SN echogenicity. We found that SN echogenicity is significantly decreased in RLS patients compared to healthy controls (P hypoechogenicity (sum area of SN echogenicity of both sides hypoechogenicity (SN sum area < 0.2 cm(2)), which is supposed to indicate a decreased SN iron content, is a marker for RLS. Further studies are needed to investigate its significance for the pathophysiology of this frequent movement disorder and possible clinical applications.

  3. Clinical and radiological findings in Pallister-Killian syndrome.

    Science.gov (United States)

    Jamuar, Saumya; Lai, Angeline; Unger, Sheila; Nishimura, Gen

    2012-03-01

    Pallister-Killian syndrome (PKS) is a potentially lethal disorder with facial dysmorphism, pigmentary skin anomalies, developmental delay and major visceral anomalies, such as diaphragmatic hernia, anorectal malformation, and congenital heart disease. PKS is causally associated with mosaic tetrasomy of chromosome 12p. A routine chromosome analysis in peripheral lymphocytes usually fails to detect the mosaic state. A prompt diagnosis rests on clinical awareness and a subsequent chromosome or molecular analysis in fibroblasts, buccal mucosal cells, or bone marrow cells. We report here on three infants with PKS. One infant had aortic dilatation, a previously unreported association in PKS. More importantly, all infants showed a recognizable, though mild, pattern of skeletal changes mainly affecting axial bones, including delayed ossification of the vertebral bodies and pubic bones, flared anterior ribs, and broad metaphyses of the long bones, particularly of the femora. These skeletal changes should be considered as a useful diagnostic sign in PKS. Awareness of the axial skeletal alterations can be helpful in prompting clinicians to search for mosaic tetrasomy 12p and perform chromosomal analysis in appropriate tissue types.

  4. MR imaging findings of the femoral marrow in myelodysplastic syndrome

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    Tanaka, Osamu; Takagi, Shojiro; Matsuura, Katsuhiko; Ichikawa, Tamaki; Kobayashi, Yasuyuki; Nagai, Jun [Jichi Medical School, Minamikawachi, Tochigi (Japan)

    1995-10-01

    MR imaging of the femoral marrow was performed in 30 patients with myelodysplastic syndrome (MDS), 11 cases of which evolved to acute myeloid leukemia (AML). The MRI appearance was classified into five patterns: fatty marrow; faint signal; nodular pattern; heterogeneous infiltration; and diffuse infiltration. For each type of MDS, MRI patterns of the femoral marrow were evaluated and compared with those in normal subjects as well as in patients with aplastic anemia. Signal intensity alteration, a low signal on T1-weighted SE image and a high signal on STIR image, began in the proximal femoral marrow almost symmetrically in patients with MDS. The area of abnormal signal intensity tended to gradually extend towards the distal portion of the femur as the disease progressed. MRI patterns of the femoral marrow correlated with marrow cellularity, and diffuse marrow infiltration was noted in patients with a more advanced type of MDS or with severe anemia. There were limitations to making an accurate diagnosis of the MDS type on the basis of the MRI pattern. Progression of the MRI appearance in the course of MDS was thought to be a sign suggesting evolution to AML. It was difficult to differentiate hypoplastic MDS from aplastic anemia, although the nodular pattern was commonly seen in the latter disease. (author).

  5. Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.

    Science.gov (United States)

    Liu, X Z; Newton, V E; Read, A P

    1995-01-02

    The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. WS Type I has been mapped to the distal part of chromosome 2q and the gene identified as PAX3. Other gene(s) are responsible for WS Type II. Mapping WS Type II requires accurate diagnosis within affected families. To establish diagnostic criteria for WS Type II, 81 individuals from 21 families with Type II WS were personally studied, and compared with 60 personally studied patients from 8 families with Type I and 253 cases of WS (Type I or II) from the literature. Sensorineural hearing loss (77%) and heterochromia iridum (47%) were the two most important diagnostic indicators for WS Type II. Both were more common in Type II than in Type I. Other clinical manifestations, such as white forelock and skin patches, were more frequent in Type I. We estimate the frequency of phenotypic traits and propose diagnostic criteria for WS Type II. In practice, a diagnosis of WS Type II can be made with confidence given a family history of congenital hearing loss and pigmentary disorders, where individuals have been accurately measured for ocular distances to exclude dystopia canthorum.

  6. Findings from the Peutz-Jeghers syndrome registry of uruguay.

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    Asadur Tchekmedyian

    Full Text Available BACKGROUND: Peutz-Jeghers syndrome (PJS is characterized by intestinal polyposis, mucocutaneous pigmentation and an increased cancer risk, usually caused by mutations of the STK11 gene. This study collected epidemiological, clinical and genetic data from all Uruguayan PJS patients. METHODS: Clinical data were obtained from public and private medical centers and updated annually. Sequencing of the STK11 gene in one member of each family was performed. RESULTS AND DISCUSSION: 25 cases in 11 unrelated families were registered (15 males, 10 females. The average age of diagnosis and death was 18 and 41 years respectively. All patients had characteristic PJS pigmentation and gastrointestinal polyps. 72% required urgent surgery due to intestinal obstruction. 3 families had multiple cases of seizure disorder, representing 20% of cases. 28% developed cancer and two patients had more than one cancer. An STK11 mutation was found in 8 of the 9 families analyzed. A unique M136K missense mutation was noted in one family. Comparing annual live births and PJS birth records from 1970 to 2009 yielded an incidence of 1 in 155,000. CONCLUSION: The Uruguayan Registry for Peutz-Jeghers patients showed a high chance of emergent surgery, epilepsy, cancer and shortened life expectancy. The M136K missense mutation is a newly reported STK 11 mutation.

  7. Findings from the Peutz-Jeghers syndrome registry of Uruguay

    KAUST Repository

    Tchekmedyian, Asadur

    2013-11-19

    Background: Peutz-Jeghers syndrome (PJS) is characterized by intestinal polyposis, mucocutaneous pigmentation and an increased cancer risk, usually caused by mutations of the STK11 gene. This study collected epidemiological, clinical and genetic data from all Uruguayan PJS patients. Methods: Clinical data were obtained from public and private medical centers and updated annually. Sequencing of the STK11 gene in one member of each family was performed. Results and discussion: 25 cases in 11 unrelated families were registered (15 males, 10 females). The average age of diagnosis and death was 18 and 41 years respectively. All patients had characteristic PJS pigmentation and gastrointestinal polyps. 72% required urgent surgery due to intestinal obstruction. 3 families had multiple cases of seizure disorder, representing 20% of cases. 28% developed cancer and two patients had more than one cancer. An STK11 mutation was found in 8 of the 9 families analyzed. A unique M136K missense mutation was noted in one family. Comparing annual live births and PJS birth records from 1970 to 2009 yielded an incidence of 1 in 155,000. Conclusion: The Uruguayan Registry for Peutz-Jeghers patients showed a high chance of emergent surgery, epilepsy, cancer and shortened life expectancy. The M136K missense mutation is a newly reported STK 11 mutation. © 2013 Tchekmedyian et al.

  8. MELAS syndrome in a child: CT and MR findings

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    Choi, Bye Young; Hong, Soo Jong; Cho, Jeong Hee; Suh, Dae Chul; Hong, Chang Yee [Asan Medical Center, Seoul (Korea, Republic of)

    1993-01-15

    MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) is one of the mitochondrial encephalomyopathy, A rare disease caused by a disturbance of the mitochondrial chain of respiration. MELAS is confirmed by typical light and electron microscopic findings: 'ragged red fibers' by modified Gomori trichrome stain on light microscope and numerous abnormal mitochondria on electron microscope. We experienced a boy with the characteristic clinical and pathologic findings of MELAS. Our patient demonstrated bilateral basal ganglia calcifications and infarction at right parieto-occipital and thalamic areas on CT and MR. We found that MRI was more sensitive and represented the infarcted lesions better than CT. Detection of cerebral insults of MELAS by MRI is important in making decision on patient treatment and also in prediction of the patient prognosis.

  9. Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation

    DEFF Research Database (Denmark)

    Ozsahin, H.; Cavazzana-Calvo, M.; Notarangelo, L.D.;

    2008-01-01

    Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency with microthrombocytopenia, eczema, recurrent infections, autoimmune disorders, and malignancies that are life-threatening in the majority of patients. In this long-term, retrospective, multicenter study, we analyzed events that o...

  10. Impact of infection with human immunodeficiency virus-1 (HIV on the risk of cancer among children in Malawi - preliminary findings

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    Batumba Mkume

    2010-02-01

    Full Text Available Abstract Background The impact of infection with HIV on the risk of cancer in children is uncertain, particularly for those living in sub-Saharan Africa. In an ongoing study in a paediatric oncology centre in Malawi, children (aged ≤ 15 years with known or suspected cancers are being recruited and tested for HIV and their mothers or carers interviewed. This study reports findings for children recruited between 2005 and 2008. Methods Only children with a cancer diagnosis were included. Odds ratios (OR for being HIV positive were estimated for each cancer type (with adjustment for age ( Results Of the 586 children recruited, 541 (92% met the inclusion criteria and 525 (97% were tested for HIV. Overall HIV seroprevalence was 10%. Infection with HIV was associated with Kaposi sarcoma (29 cases; OR = 93.5, 95% CI 26.9 to 324.4 and with non-Burkitt, non-Hodgkin lymphoma (33 cases; OR = 4.4, 95% CI 1.1 to 17.9 but not with Burkitt lymphoma (269 cases; OR = 2.2, 95% CI 0.8 to 6.4. Conclusions In this study, only Kaposi sarcoma and non-Burkitt, non-Hodgkin lymphoma were associated with HIV infection. The endemic form of Burkitt lymphoma, which is relatively frequent in Malawi, was not significantly associated with HIV. While the relatively small numbers of children with other cancers, together with possible limitations of diagnostic testing may limit our conclusions, the findings may suggest differences in the pathogenesis of HIV-related malignancies in different parts of the world.

  11. Treatment of facial lipoatrophy with polymethylmethacrylate among patients with human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS): impact on the quality of life.

    Science.gov (United States)

    Quintas, Rodrigo C S; de França, Emmanuel R; de Petribú, Kátia C L; Ximenes, Ricardo A A; Quintas, Lóren F F M; Cavalcanti, Ernando L F; Kitamura, Marco A P; Magalhães, Kássia A A; Paiva, Késsia C F; Filho, Demócrito B Miranda

    2014-04-01

    The lipodystrophy syndrome is characterized by selective loss of subcutaneous fat on the face and extremities (lipoatrophy) and/or accumulation of fat around the neck, abdomen, and thorax (lipohypertrophy). The aim of this study has been to assess the impact of polymethylmethacrylate facial treatment on quality of life, self-perceived facial image, and the severity of depressive symptoms in patients living with HIV/AIDS. A non-randomized before and after interventional study was developed. Fifty-one patients underwent facial filling. The self-perceived quality of life, facial image, and degree of depressive symptoms were measured by the Short-Form 36 and HIV/AIDS--Targeted quality of life questionnaires, by a visual analogue scale and by the Beck depression inventory, respectively, before and three months after treatment. Six of the eight domains of Short-Form 36 and eight of the nine dimensions of the HIV/AIDS--Targeted quality of life questionnaires, together with the visual analogue scale and by the Beck depression inventory scores, revealed a statistically significant improvement. The only adverse effects registered were edema and ecchymosis. The treatment of facial lipoatrophy improved the self-perceived quality of life and facial image as well as any depressive symptoms among patients with HIV/AIDS. © 2014 The International Society of Dermatology.

  12. Immunodeficiency disorders

    Science.gov (United States)

    ... as corticosteroids). Immunosuppression is also a common side effect of chemotherapy given to treat cancer. Acquired immunodeficiency may be a complication of diseases such as HIV/AIDS and malnutrition (especially if the person does not eat enough ...

  13. Empty sella syndrome - beyond being an incidental finding

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    Vikrant Ghatnatti

    2012-01-01

    Full Text Available Introduction: Empty sella is characterized by the herniation of the subarachnoid space within the sella, which is often associated with some degree of flattening of the pituitary gland. This study was undertaken to evaluate the clinical and hormonal profile in patients with empty sella. Aims and Objectives: To evaluate the clinical and hormonal profile of the patients with an empty sella. Materials and Methods: Patients undergoing a CT/MRI at our center, for various reasons but with the finding of the empty sella were included in this study. A detailed history and clinical examination was done. Apart from routine tests, hormonal evaluation included serum thyroid stimulating hormone, T4, cortisol (8 am, prolactin, total testosterone, follicle stimulating hormone, leutinizing hormone, and fasting Insulin like Growth factor 1 (IGF 1 were done. Results: A total of 34 patients, diagnosed radiologically to have empty sella, were evaluated and of them 24 had primary empty sella (PES and 10 had secondary empty sella (SES. In subjects with PES, 12 out of 24 (50% had endocrine dysfunction. The most common endocrine dysfunction noted was hyperprolactinemia, which was seen in 5 (20.8% patients and the most common hormonal deficiency was isolated GH deficiency seen in four patients (12.5%. Conclusion: The high incidence of endocrine abnormalities in patients with PES mandates that these patients should routinely be subjected to endocrine evaluation to detect these deficiencies early, and appropriate replacement instituted where necessary, thus ensuring them of a better quality of life.

  14. Dental findings in patients with West syndrome: A report of two cases

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    Amit Khatri

    2014-01-01

    Full Text Available West syndrome a rare, severe form of epilepsy occurs in early infancy. It is characterized by a triad consisting of infantile spasms that occurs in clusters, arrest of psychomotor development and hypsarrhythmia on electroencephalogram. We present here two cases of west syndrome where patients required dental care due to the presence of certain dental findings. Preventive measurements such as controlled diet and proper oral hygiene along with professional dental management are recommended in patients with west syndrome to avoid dental problems.

  15. Hypogenetic lung syndrome in an adolescent: Imaging findings with short review

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    Ahamed Mohamed

    2008-01-01

    Full Text Available Hypogenetic lung syndrome is more popularly known as a scimitar syndrome (SS. It is a rare developmental lung malformation which almost always occurs on the right side. The two most constant features of this syndrome are anomalous pulmonary venous return into systemic circulation, most frequently via inferior vena cava (IVC, and lung hypoplasia. We are reporting such a case illustrating most typical and some uncommon features on chest radiograph and multislice computer tomography (MSCT of chest. Focal herniation of liver through a diaphragmatic defect presenting as an ovoid soft tissue mass in right lower paraspinal region on chest X ray mimicking sequestration is an interesting but rare finding.

  16. 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.

  17. Prevalence of IgG and IgM anti-Toxoplasma antibodies in patients with HIV and acquired immunodeficiency syndrome (AIDS

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    Galván Ramírez María de la Luz

    1997-01-01

    Full Text Available With the emergence of the human immunodeficiency virus (HIV, in patients with acquired immunodeficiency syndrome (AIDS, Toxoplasma gondii has arisen as an important opportunist pathogenic agent, especcially in the central nervous system, being the most common cause of intracerebral lesions. The incidence of Toxoplasma gondii in HIV-infected patients depends principally on the existence of latent Toxoplasma parasitosis in the population affected. Through the enzyme-linked immunosorbent assay (ELISA, IgG and IgM anti-Toxoplasma antibodies were found in 92 patients of which 46 (50.0% were IgG seropositive, and only one case (1.0% had IgM antibodies.Of the 92 patients: 53 were HIV seropositives and 39 had AIDS. The detection and monitoring of anti-Toxoplasma antibodies in HIV patients is essential, since in this group there is a high percentage risk of developing cerebral toxoplasmosis, which is the second cause of death in this type of patients.

  18. Dental findings in patients with West syndrome: A report of two cases

    OpenAIRE

    Amit Khatri; Namita Kalra; Rishi Tyagi; Mani Baweja; Deepak Khandelwal

    2014-01-01

    West syndrome a rare, severe form of epilepsy occurs in early infancy. It is characterized by a triad consisting of infantile spasms that occurs in clusters, arrest of psychomotor development and hypsarrhythmia on electroencephalogram. We present here two cases of west syndrome where patients required dental care due to the presence of certain dental findings. Preventive measurements such as controlled diet and proper oral hygiene along with professional dental management are recommended in p...

  19. The socioeconomic impact of human immunodeficiency virus / acquired immune deficiency syndrome in India and its relevance to eye care

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    Murthy GVS

    2008-01-01

    Full Text Available Human immunodeficiency virus (HIV infection is aptly called the modern day ′plague′ and has the potential to decimate people in the productive age group. On the other hand, the increasing life expectancy in developing countries spirals age-related blindness. One therefore reduces economic productivity while the other increases economic dependency. Both lead to increased expenditure of households though in different proportions. Human immunodeficiency virus and blindness are both associated with discrimination, stigma and long-term consequences. They impact the socioeconomic fabric of the affected individuals, communities and countries. The loss in productivity and the cost of support to the affected individuals are seen in both. Each is a potent problem on its own but together they spell disaster in geometric proportions rather than a simple additive effect. Strategies need to be evolved to provide solace and improve the quality of life of an HIV-positive blind individual.

  20. Unusual Case of Metastatic Gastrointestinal Adenocarcinoma to the Cervical Spine without a Detectable Primary Source in a Patient with Acquired Immunodeficiency Syndrome: A Case Report

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    Paul E. Kaloostian

    2012-01-01

    Full Text Available The authors report a case of metastatic gastrointestinal adenocarcinoma to the cervical spine in a patient with acquired immunodeficiency syndrome (AIDS being treated with antiretroviral therapy. The source of this tumor could not be identified despite a thorough evaluation. A 49-year-old male being treated for AIDS presents with worsening neck pain and left distal arm weakness. MRI demonstrated an erosive mass within the cervical four vertebral body extending through the pedicle on the left side. Patient underwent needle biopsy followed by combined anterior and posterior fusion procedures. Pathology demonstrated metastatic gastrointestinal adenocarcinoma without known primary origin. He is currently undergoing palliative radiotherapy. This is an unusual case of metastatic gastrointestinal adenocarcinoma to the cervical spine. This should be included on the differential diagnosis of spinal lesions in this patient population and may represent a unique tumor in patients with HIV/AIDS who are on immunosuppressive therapy.

  1. 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.

  2. Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Rubio, Eva I.; Blask, Anna; Bulas, Dorothy I. [Children' s National Health System, Department of Radiology, Washington, DC (United States)

    2016-05-15

    Craniosynostosis syndromes are uncommonly encountered in the prenatal period. Identification is challenging but important for family counseling and perinatal management. This series examines prenatal findings in craniosynostosis syndromes, comparing the complementary roles of US and MRI and emphasizing clues easily missed in the second trimester. Six prenatal cases evaluated from 2002 through 2011 were retrospectively reviewed. Referral history, gestational age, and sonographic and MRI findings were reviewed by three pediatric radiologists. Abnormalities of the calvarium, hands, feet, face, airway and central nervous system were compared between modalities. The diagnosis was Apert syndrome in three, Pfeiffer syndrome in two and Carpenter syndrome in one. The gestational age at evaluation ranged from 21 to 33 weeks. All six were evaluated by MRI and US, with two undergoing repeat evaluation in the third trimester, yielding a total of eight MRIs and US exams. The referral history suggested cloverleaf skull in two cases but did not suggest craniosynostosis syndrome in any case. In four, the referral suggested central nervous system (CNS) findings that were not confirmed by MRI; additional CNS findings were discovered in the remaining two. In four cases, developing turricephaly resulted in a characteristic ''lampshade'' contour of the fetal head. Hypertelorism and proptosis were present in five, with proptosis better appreciated by MRI. Digit abnormalities were present in all, seen equally well by MRI and US. Lung abnormalities in the second trimester in one fetus resolved by the third trimester. Prenatal diagnosis of craniosynostosis syndromes is difficult prior to the third trimester. MRI and US have complementary roles in evaluation of these patients. (orig.)

  3. Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity.

    Science.gov (United States)

    Shaik, Sameeulla; Raviraj, Jayam; Dirasantchu, Suresh; Venkata, Suman S

    2016-01-01

    Ellis-van Creveld (EVC) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. In the present article, we hereby present a case of a 13-year-old girl of Indian ethnicity with EVC syndrome with a remarkable number of classical oral and dental features, with unusual findings such as taurodontism and talons cusp. Such dental findings were reported in few cases only. Despite the fact that oral manifestations play an important role in the diagnosis of EVC, only a few detailed reports have been published in the dental literature.

  4. Ellis–van Creveld syndrome with unusual oral and dental findings: A rare clinical entity

    Science.gov (United States)

    Shaik, Sameeulla; Raviraj, Jayam; Dirasantchu, Suresh; Venkata, Suman S.

    2016-01-01

    Ellis–van Creveld (EVC) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. In the present article, we hereby present a case of a 13-year-old girl of Indian ethnicity with EVC syndrome with a remarkable number of classical oral and dental features, with unusual findings such as taurodontism and talons cusp. Such dental findings were reported in few cases only. Despite the fact that oral manifestations play an important role in the diagnosis of EVC, only a few detailed reports have been published in the dental literature. PMID:27076836

  5. Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity

    Directory of Open Access Journals (Sweden)

    Sameeulla Shaik

    2016-01-01

    Full Text Available Ellis-van Creveld (EVC syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. In the present article, we hereby present a case of a 13-year-old girl of Indian ethnicity with EVC syndrome with a remarkable number of classical oral and dental features, with unusual findings such as taurodontism and talons cusp. Such dental findings were reported in few cases only. Despite the fact that oral manifestations play an important role in the diagnosis of EVC, only a few detailed reports have been published in the dental literature.

  6. Computer simulations of the interaction of human immunodeficiency virus (HIV) aspartic protease with spherical gold nanoparticles: implications in acquired immunodeficiency syndrome (AIDS)

    Science.gov (United States)

    Whiteley, Chris G.; Lee, Duu-Jong

    2016-09-01

    The interaction of gold nanoparticles (AuNP) with human immune-deficiency virus aspartic protease (HIVPR) is modelled using a regime of molecular dynamics simulations. The simulations of the ‘docking’, first as a rigid-body complex, and eventually through flexible-fit analysis, creates 36 different complexes from four initial orientations of the nanoparticle strategically positioned around the surface of the enzyme. The structural deviations of the enzymes from the initial x-ray crystal structure during each docking simulation are assessed by comparative analysis of secondary structural elements, root mean square deviations, B-factors, interactive bonding energies, dihedral angles, radius of gyration (R g), circular dichroism (CD), volume occupied by C α , electrostatic potentials, solvation energies and hydrophobicities. Normalisation of the data narrows the selection from the initial 36 to one ‘final’ probable structure. It is concluded that, after computer simulations on each of the 36 initial complexes incorporating the 12 different biophysical techniques, the top five complexes are the same no matter which technique is explored. The significance of the present work is an expansion of an earlier study on the molecular dynamic simulation for the interaction of HIVPR with silver nanoparticles. This work is supported by experimental evidence since the initial ‘orientation’ of the AgNP with the enzyme is the same as the ‘final’ AuNP-HIVPR complex generated in the present study. The findings will provide insight into the forces of the binding of the HIVPR to AuNP. It is anticipated that the protocol developed in this study will act as a standard process for the interaction of any nanoparticle with any biomedical target.

  7. Computer simulations of the interaction of human immunodeficiency virus (HIV) aspartic protease with spherical gold nanoparticles: implications in acquired immunodeficiency syndrome (AIDS).

    Science.gov (United States)

    Whiteley, Chris G; Lee, Duu-Jong

    2016-09-01

    The interaction of gold nanoparticles (AuNP) with human immune-deficiency virus aspartic protease (HIVPR) is modelled using a regime of molecular dynamics simulations. The simulations of the 'docking', first as a rigid-body complex, and eventually through flexible-fit analysis, creates 36 different complexes from four initial orientations of the nanoparticle strategically positioned around the surface of the enzyme. The structural deviations of the enzymes from the initial x-ray crystal structure during each docking simulation are assessed by comparative analysis of secondary structural elements, root mean square deviations, B-factors, interactive bonding energies, dihedral angles, radius of gyration (R g), circular dichroism (CD), volume occupied by C α , electrostatic potentials, solvation energies and hydrophobicities. Normalisation of the data narrows the selection from the initial 36 to one 'final' probable structure. It is concluded that, after computer simulations on each of the 36 initial complexes incorporating the 12 different biophysical techniques, the top five complexes are the same no matter which technique is explored. The significance of the present work is an expansion of an earlier study on the molecular dynamic simulation for the interaction of HIVPR with silver nanoparticles. This work is supported by experimental evidence since the initial 'orientation' of the AgNP with the enzyme is the same as the 'final' AuNP-HIVPR complex generated in the present study. The findings will provide insight into the forces of the binding of the HIVPR to AuNP. It is anticipated that the protocol developed in this study will act as a standard process for the interaction of any nanoparticle with any biomedical target.

  8. Application and validation of case-finding algorithms for identifying individuals with human immunodeficiency virus from administrative data in British Columbia, Canada.

    Directory of Open Access Journals (Sweden)

    Bohdan Nosyk

    Full Text Available OBJECTIVE: To define a population-level cohort of individuals infected with the human immunodeficiency virus (HIV in the province of British Columbia from available registries and administrative datasets using a validated case-finding algorithm. METHODS: Individuals were identified for possible cohort inclusion from the BC Centre for Excellence in HIV/AIDS (CfE drug treatment program (antiretroviral therapy and laboratory testing datasets (plasma viral load (pVL and CD4 diagnostic test results, the BC Centre for Disease Control (CDC provincial HIV surveillance database (positive HIV tests, as well as databases held by the BC Ministry of Health (MoH; the Discharge Abstract Database (hospitalizations, the Medical Services Plan (physician billing and PharmaNet databases (additional HIV-related medications. A validated case-finding algorithm was applied to distinguish true HIV cases from those likely to have been misclassified. The sensitivity of the algorithms was assessed as the proportion of confirmed cases (those with records in the CfE, CDC and MoH databases positively identified by each algorithm. A priori hypotheses were generated and tested to verify excluded cases. RESULTS: A total of 25,673 individuals were identified as having at least one HIV-related health record. Among 9,454 unconfirmed cases, the selected case-finding algorithm identified 849 individuals believed to be HIV-positive. The sensitivity of this algorithm among confirmed cases was 88%. Those excluded from the cohort were more likely to be female (44.4% vs. 22.5%; p<0.01, had a lower mortality rate (2.18 per 100 person years (100PY vs. 3.14/100PY; p<0.01, and had lower median rates of health service utilization (days of medications dispensed: 9745/100PY vs. 10266/100PY; p<0.01; days of inpatient care: 29/100PY vs. 98/100PY; p<0.01; physician billings: 602/100PY vs. 2,056/100PY; p<0.01. CONCLUSIONS: The application of validated case-finding algorithms and subsequent

  9. Prenatal findings in carpenter syndrome and a novel mutation in RAB23.

    Science.gov (United States)

    Haye, Damien; Collet, Corinne; Sembely-Taveau, Catherine; Haddad, Georges; Denis, Christelle; Soulé, Nathalie; Suc, Annie-Laure; Listrat, Antoine; Toutain, Annick

    2014-11-01

    Carpenter syndrome is caused by mutations of the RAB23 gene. To date, 12 distinct mutations have been identified among 34 patients from 26 unrelated families. We report on the prenatal findings in a fetus with Carpenter syndrome with a novel RAB23 mutation. Cystic hygroma, bowed femora, abnormal skull shape and a complex heart defect were seen on ultrasound scan, and Carpenter syndrome was diagnosed at birth. Craniosynostosis and preaxial hexadactyly of the feet were retrospectively detectable on the fetal CT scan. Sequencing of RAB23 identified a homozygous mutation leading to skipping of exon 6 and premature termination codon (c.481G>C; p.Val161Leufs*16). This observation illustrates the difficulty of prenatal ultrasound diagnosis of Carpenter syndrome. To our knowledge, this diagnosis was suggested on ultrasound scan in only one prior patient, although in five other patients abnormal skull shape and variable findings, mainly limb anomalies including bowed femora in one case, were described during the pregnancy. Heart defect and bowed femora are rare postnatal findings. The diagnosis of Carpenter syndrome should therefore be considered on prenatal imaging in cases of bowed femora and/or cardiac defect associated with abnormal skull shape.

  10. Retrovirus-induced murine acquired immunodeficiency syndrome: natural history of infection and differing susceptibility of inbred mouse strains.

    OpenAIRE

    Hartley, J W; Fredrickson, T N; Yetter, R A; Makino, M; Morse, H. C.

    1989-01-01

    C57BL mice (Fv-1b) develop a severe immunodeficiency disease following inoculation as adults with LP-BM5 murine leukemia virus (MuLV), a derivative of Duplan-Laterjet virus which contains B-tropic ecotropic and mink cell focus-inducing MuLVs and a putative defective genome which may be the proximal cause of disease. The stages of development of this disease were defined for C57BL mice on the basis of lymphadenopathy and splenomegaly; histopathological changes consistent with B-cell activation...

  11. Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Francomano Clair A

    2003-07-01

    Full Text Available Abstract Background Chondrodystrophic myotonia or Schwartz-Jampel syndrome is a rare genetic disorder characterized by myotonia and skeletal dysplasia. It may be progressive in nature. Recently, the gene responsible for Schwartz-Jampel syndrome has been found and the defective protein it encodes leads to abnormal cartilage development and anomalous neuromuscular activity. Case Presentation We report the clinical findings and the management of an 8-year-old boy with this disorder. The molecular findings confirm that the patient is a compound heterozygote with a different splicing mutation in each Perlecan allele. This resulted in a significant reduction in the production of the encoded normal protein. Conclusion We discuss the multi-disciplinary management of Schwartz-Jampel syndrome that will facilitate optimal care and timely intervention of patients with this disorder.

  12. Imaging findings in a case of Gorlin-Goltz syndrome: a survey using advanced modalities

    Energy Technology Data Exchange (ETDEWEB)

    Bronooh, Pegah [Dental School, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of); Shakibafar, Ali Reza [TABA Medical Imaging Center, Shiraz (Iran, Islamic Republic of); Houshyar, Maneli; Nafarzade, Shima [Oral Pathology Department, Babol Dental School, Babol (Iran, Islamic Republic of)

    2011-12-15

    Gorlin-Goltz syndrome is an infrequent multi-systemic disease which is characterized by multiple keratocysts in the jaws, calcification of falx cerebri, and basal cell carcinomas. We report a case of Gorlin-Goltz syndrome in a 23-year-old man with emphasis on image findings of keratocyctic odontogenic tumors (KCOTs) on panoramic radiograph, computed tomography, magnetic resonance (MR) imaging, and Ultrasonography (US). In this case, pericoronal lesions were mostly orthokeratinized odontogenic cyst (OOC) concerning the MR and US study, which tended to recur less. The aim of this report was to clarify the characteristic imaging features of the syndrome-related keratocysts that can be used to differentiate KCOT from OOC. Also, our findings suggested that the recurrence rate of KCOTs might be predicted based on their association to teeth.

  13. Imaging findings in a case of Gorlin-Goltz syndrome: a survey using advanced modalities.

    Science.gov (United States)

    Bronoosh, Pegah; Shakibafar, Ali Reza; Houshyar, Maneli; Nafarzade, Shima

    2011-12-01

    Gorlin-Goltz syndrome is an infrequent multi-systemic disease which is characterized by multiple keratocysts in the jaws, calcification of falx cerebri, and basal cell carcinomas. We report a case of Gorlin-Goltz syndrome in a 23-year-old man with emphasis on image findings of keratocyctic odontogenic tumors (KCOTs) on panoramic radiograph, computed tomography, magnetic resonance (MR) imaging, and Ultrasonography (US). In this case, pericoronal lesions were mostly orthokeratinized odontogenic cyst (OOC) concerning the MR and US study, which tended to recur less. The aim of this report was to clarify the characteristic imaging features of the syndrome-related keratocysts that can be used to differentiate KCOT from OOC. Also, our findings suggested that the recurrence rate of KCOTs might be predicted based on their association to teeth.

  14. Corpus Callosum and Neglect Syndrome: Clinical Findings After Meningioma Removal and Anatomical Review

    Science.gov (United States)

    Gomes, David; Fonseca, Madalena; Garrotes, Maria; Lima, Maria Rita; Mendonça, Marta; Pereira, Mariana; Lourenço, Miguel; Oliveira, Edson; Lavrador, José Pedro

    2017-01-01

    Two types of neglect are described: hemispatial and motivational neglect syndromes. Neglect syndrome is a neurophysiologic condition characterized by a malfunction in one hemisphere of the brain, resulting in contralateral hemispatial neglect in the absence of sensory loss and the right parietal lobe lesion being the most common anatomical site leading to it. In motivational neglect, the less emotional input is considered from the neglected side where anterior cingulate cortex harbors the most frequent lesions. Nevertheless, there are reports of injuries in the corpus callosum (CC) causing hemispatial neglect syndrome, particularly located in the splenium. It is essential for a neurosurgeon to recognize this clinical syndrome as it can be either a primary manifestation of neurosurgical pathology (tumor, vascular lesion) or as a postoperative iatrogenic clinical finding. The authors report a postoperative hemispatial neglect syndrome after a falcotentorial meningioma removal that recovered 10 months after surgery and performs a clinical, anatomical, and histological review centered in CC as key agent in neglect syndrome. PMID:28149091

  15. Blepharophimosis Mental Retardation Syndrome Say-Barber/Biesecker/Young-Simpson Type - New Findings With Neuroimaging

    NARCIS (Netherlands)

    K. Szakszon; E. Berényi; A. Jakab; B. Bessenyei; E. Balogh; T. Koebling; J. Szilvássy; A.C. Knegt; E. Olah

    2011-01-01

    We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal stenosis, small and malformed teeth, hypothyroidis

  16. Case of Ehlers-Danlos syndrome associated with abnormal cranial CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Hagino, Hiroshi; Sugitani, Akitoshi (Matsue Seishi Gakuen, Shimane (Japan)); Eda, Isematsu; Takakura, Hiroki

    1984-01-01

    A 16-year-old girl having typical Ehlers-Danlos syndrome was reported. In this patient, although there were no specific neurological findings, cranial CT scanning revealed marked dilation and deformation of the whole forth ventricle, dilation of the superior cerebellar cistern, and the dilation and deformation of the quadrigeminal cistern and circumvolute cistern, suggesting morphological abnormalities of the vermian region.

  17. Imaging findings of intragastric gallstone and bouveret's syndrome : case report

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Seong Youb; Seong, Hun; Park, Jong Yeon; Seo, Chang Hye; Jang, Kyung Jae; Cho, Seong Rak [Department of Radiology, Dae Dong Hospital, Pusan (Korea, Republic of)

    2000-01-01

    Gallstone ileus is a well-known complication of cholelithiasis, but is relatively rare. Most ectopic gallstones are located in the small bowel; they are rarely found in the stomach and duodenum. We describe the imaging findings of a case of intragastric gallstone, as well as a case in which duodenal obstruction was caused by a large gallstone (Bouveret's syndrome). (author)

  18. Manifestações reumáticas da síndrome de imunodeficiência adquirida (AIDS Rheumatic manifestations of the acquired immunodeficiency syndrome (AIDS

    Directory of Open Access Journals (Sweden)

    Rodrigo Siqueira-Batista

    2004-10-01

    Full Text Available Diferentes síndromes reumáticas e fenômenos auto-imunes já foram associados à infecção pelo vírus da imunodeficiência humana (HIV, quer pela maior freqüência de adoecimento, quer pela maior gravidade. Ademais, em muitos casos, sintomas e sinais da doença reumática estão presentes na abertura do quadro de infecção pelo HIV (como na síndrome de soroconversão ou da síndrome de imunodeficiência adquirida (AIDS. O reconhecimento deste horizonte é da maior importância para a prática do reumatologista, tornando-se altamente necessário ampliar a familiaridade com estes conceitos. Revisitar as interseções reumatológicas da infecção pelo HIV - enfatizando-se situações como as espondiloartropatias soronegativas, as artralgias, as artrites infecciosas, fibromialgia, miopatias, vasculites, síndrome linfocítica infiltrante difusa, lúpus eritematoso sistêmico e fenômenos auto-imunes - é, pois, o objetivo do presente artigo.Different rheumatic syndromes and auto-immune phenomena have already been associated with the infection by the human immunodeficiency virus (HIV, either by the higher frequency of the disease or by the greater severity. Furthermore, in many cases, symptoms and signs of rheumatic disease are present at the beginning of the infection condition by HIV (as in the serum conversion or the Acquired Immunodeficiency Syndrome (AIDS. Recognition of these possibilities is of fundamental importance to the rheumatologist practice and is necessary to have familiarity with these concepts. Revisiting the rheumatologic intersections of the infection by HIV - emphasizing situations such as seronegative spondyloarthropathies, arthralgia, infectitious arthritis, fibromyalgia, myopathy, vasculitis, difuse infiltranting lymphocytic syndrome systemic lupus erythematous and auto-immune phenomena - is then, the aim of the present article.

  19. [Iatrogenic Cushing's syndrome, diabetes mellitus and secondary adrenal failure in a human immunodeficiency virus patient treated with ritonavir boosted atazanavir and fluticasone].

    Science.gov (United States)

    Collet-Gaudillat, C; Roussin-Bretagne, S; Desforges-Bullet, V; Petit-Aubert, G; Doll, J; Beressi, J -P

    2009-09-01

    Ritonavir and atazanavir (ATZ) are protease inhibitors (PI) that inhibit the P450 3A4 cytochrome. They are used together to boost ATZ levels and reduce pill burden in human immunodeficiency virus infection, but association with medications metabolized by this cytochrome can cause serious adverse effects. Several cases of Cushing's syndrome have been reported when patients received inhaled therapy with fluticasone for asthma, sometimes complicated by secondary adrenal failure after stopping fluticasone. We report a case of Cushing's syndrome associated with onset of diabetes mellitus in a patient treated with boosted PI (ATZ and ritonavir) for HIV 2 (CD4360/ml). Asthma was treated with inhaled fluticasone 1500mug/day for several months that was stopped at admission. A few days later, typical secondary adrenal failure developed and was confirmed by dosage of cortisol and ACTH, both low. Hydrocortisone replacement treatment resulted in rapid improvement of symptoms. Diabetes was initially treated with insulin then sulfonyluraes, but repeated hypoglycemias lead to diet alone. Physicians should be aware of the potential danger of the association of "boosted" IP and some kind of inhaled corticotherapy.

  20. Word-finding difficulties, verbal paraphasias, and verbal dyspraxia in ten individuals with fragile X syndrome.

    Science.gov (United States)

    Spinelli, M; Rocha, A C; Giacheti, C M; Richieri-Costa, A

    1995-02-27

    Speech/language disorders are common in the fragile X syndrome. [Howard-Peebles, 1979: Am J Hom Genet 31:214-222; Renier et al., 1983: J Ment Defic Res 27:51-59; Sparks, 1984: Birth Defects and Speech-Language Disorders, pp. 39-43; Hanson et al., 1986: Am J Med Genet 23:195-206]. Verbal paraphasias have been considered a rare feature and word-finding difficulties have seldom been reported. Here we report on ten Brazilian patients who were evaluated for speech/language disturbances and found that word-finding difficulties were present in 50% of the cases, which is a slightly higher frequency than that of clear dyspraxia. We suggest, therefore, that word-finding difficulties and verbal dyspraxia can be a common feature within the spectrum of this syndrome. Additional speech findings are discussed.

  1. Syringomyelia in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): imaging findings following bone marrow transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Hite, S.H. [Department of Radiology, Box 292, University of Minnesota Hospital and Clinic, 420 Delaware Street SE, Minneapolis, MN 55455 (United States); Krivit, W. [Department of Pediatrics and Institute for Human Genetics, University of Minnesota Hospital and Clinic, Minneapolis, MN (United States); Haines, S.J. [Department of Neurological Surgery, University of Minnesota Hospital and Clinic, Minneapolis, MN (United States); Whitley, C.B. [Department of Pediatrics and Institute for Human Genetics, University of Minnesota Hospital and Clinic, Minneapolis, MN (United States)

    1997-09-01

    We present the imaging findings in a patient with mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy syndrome) who developed holocord syringomyelia. This represents the only reported case of syrinx formation in a child with MPS VI. Clinical, neurologic and spinal magnetic resonance imaging findings are presented. The patient has maintained a stable clinical and neurologic course over the period following allogeneic bone marrow transplant. (orig.). With 3 figs.

  2. Hind brain agenesis a rare imaging findings in cerebro cerebellar lissencephalic syndrome.

    Science.gov (United States)

    Mundaganur, Praveen M; Solwalkar, Pradeep; Nimbal, Vishal

    2014-01-01

    A case report of cerebro cerebellar lissencephaly shows complete agenesis of cerebellum and brainstem which is rare imaging finding of group lissencephaly (type I lissencephaly). Though agenesis of cerebellum and brainstem were included in literature, in most of the cases we saw a hypoplasia or atrophy of cerebellum in lissencephaly syndrome. The CT scan findings of this patient shows features of lissencephaly with complete agenesis of brain stem and cerebellum associated with multiple congenital abnormalities.

  3. A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

    Science.gov (United States)

    Rechavi, Erez; Lev, Atar; Eyal, Eran; Barel, Ortal; Kol, Nitzan; Barhom, Sarit Farage; Pode-Shakked, Ben; Anikster, Yair; Somech, Raz; Simon, Amos J

    2016-11-01

    Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is an extremely rare autosomal recessive disease. The immune phenotype is characterized by hypogammaglobulinemia in the presence of B cells. T cell lymphopenia also develops in some patients. We sought to further investigate the immune defect in an ICF patient with a novel missense mutation in DNMT3B and a severe phenotype. Patient lymphocytes were examined for subset counts, immunoglobulin levels, T and B cell de novo production (via excision circles) and receptor repertoire diversity. Mutated DNMT3B protein structure was modeled to assess the effect of a mutation located outside of the catalytic region on protein function. A novel homozygous missense mutation, Ala585Thr, was found in DNMT3B. The patient had decreased B cell counts with hypogammaglobulinemia, and normal T cell counts. CD4(+) T cells decreased over time, leading to an inversion of the CD4(+) to CD8(+) ratio. Excision circle copy numbers were normal, signifying normal de novo lymphocyte production, but the ratio between naïve and total B cells was low, indicating decreased in vivo B cell replication. T and B cell receptor repertoires displayed normal diversity. Computerized modeling of the mutated Ala585 residue suggested reduced thermostability, possibly affecting the enzyme kinetics. Our results highlight the existence of a T cell defect that develops over time in ICF patient, in addition to the known B cell dysfunction. With intravenous immunoglobulin (IVIG) treatment ameliorating the B cell defect, the extent of CD4(+) lymphopenia may determine the severity of ICF immunodeficiency.

  4. [Cerebral infarction and intracranial aneurysm related to the reactivation of varicella zoster virus in a Japanese acquired immunodeficiency syndrome (AIDS) patient].

    Science.gov (United States)

    Yasuda, Chiharu; Okada, Kazumasa; Ohnari, Norihiro; Akamatsu, Naoki; Tsuji, Sadatoshi

    2013-01-01

    A 35-years-old right-handed man admitted to our hospital with a worsening of dysarthria, left facial palsy and left hemiparesis for 2 days. Acquired immunodeficiency syndrome (AIDS) was diagnosed when he was 28 years old. At that time, he also was treated for syphilis. After highly active antiretroviral treatment (HAART) was introduced at the age of 35 years old, serum level of human immunodeficiency virus (HIV) was not detected, but the number of CD4+ T cells was still less than 200/μl. He had no risk factors of atherosclerosis including hypertension, diabetes and hyperlipidemia. He had neither coagulation abnormality nor autoimmune disease. Magnetic resonance imaging (MRI) showed acute ischemic infarction spreading from the right corona radiate to the right internal capsule without contrast enhancement. Stenosis and occlusion of intracranial arteries were not detected by MR angiography. Although argatroban and edaravone were administered, his neurological deficits were worsened to be difficult to walk independently. Cerebrospinal fluid (CSF) examination showed a mild mononuclear pleocytosis (16/μl). Oligoclonal band was positive. The titer of anti-varicella zoster virus (VZV) IgG antibodies was increased, that indicated VZV reactivation in the central nervous system (CNS), although VZV DNA PCR was not detected. Therefore, acyclovir (750 mg/day for 2 weeks) and valaciclovir (3,000 mg/day for 1 month) were administered in addition to stroke therapy. He recovered to be able to walk independently 2 month after the admission.Angiography uncovered a saccular aneurysm of 3 mm at the end of branch artery of right anterior cerebral artery, Heubner artery, 28 days after the admission. We speculated that VZV vasculopathy caused by VZV reactivation in CNS was involved in the pathomechanism of cerebral infarction rather than HIV vasculopathy in the case.

  5. (99m)Tc-methylene diphosphonate bone scintigraphy findings in posttransplant distal limb syndrome.

    Science.gov (United States)

    Derlin, Thorsten; Busch, Jasmin D; Bannas, Peter

    2014-07-01

    We report a case of posttransplant distal limb syndrome (PTDLS) representing a rare complication in kidney transplant recipients characterized by a pain syndrome of the distal extremities. A 68-year-old man with a history of kidney transplantation presented with symmetrical and incapacitating pain in the feet and knees and underwent whole-body Tc-methylene diphosphonate (MDP) scintigraphy for further evaluation. Planar scintigraphy demonstrated marked tracer uptake in the distal femoral and tibial epiphyses, and magnetic resonance imaging showed corresponding osteoedema. Tc-MDP scintigraphy is a valuable tool for evaluation of the etiology of musculoskeletal pain and may demonstrate typical findings in case of PTDLS.

  6. Neuroleptic malignant syndrome in an AIDS patient: clinical and pathological findings.

    Science.gov (United States)

    Gabellini, A S; Pezzoli, A; De Massis, P; Casadei, G; Grillo, A; Sacquegna, T

    1994-09-01

    Neuroleptic malignant syndrome (NMS) has been recently described following therapy with non strictly neuroleptic drugs that alter dopaminergic function, such as sulpiride and metoclopramide, and might occur more easily in patients with functional or organic brain disorders. We observed an AIDS patient who suffered from NMS following treatment with clotiapine for insomnia and agitation. Two months later, he presented with a similar syndrome following antiemetic treatment with alizapride. On both occasions, the symptoms completely regressed after the administration of dopaminergic and muscle relaxant drugs. The patient died of pneumonia one month after the last episode. The present paper describes the clinical and pathological findings.

  7. Primary immunodeficiency

    Directory of Open Access Journals (Sweden)

    McCusker Christine

    2011-11-01

    Full Text Available Abstract Primary immunodeficiency disorder (PID refers to a heterogeneous group of over 130 disorders that result from defects in immune system development and/or function. PIDs are broadly classified as disorders of adaptive immunity (i.e., T-cell, B-cell or combined immunodeficiencies or of innate immunity (e.g., phagocyte and complement disorders. Although the clinical manifestations of PIDs are highly variable, most disorders involve at least an increased susceptibility to infection. Early diagnosis and treatment are imperative for preventing significant disease-associated morbidity and, therefore, consultation with a clinical immunologist is essential. PIDs should be suspected in patients with: recurrent sinus or ear infections or pneumonias within a 1 year period; failure to thrive; poor response to prolonged use of antibiotics; persistent thrush or skin abscesses; or a family history of PID. Patients with multiple autoimmune diseases should also be evaluated. Diagnostic testing often involves lymphocyte proliferation assays, flow cytometry, measurement of serum immunoglobulin (Ig levels, assessment of serum specific antibody titers in response to vaccine antigens, neutrophil function assays, stimulation assays for cytokine responses, and complement studies. The treatment of PIDs is complex and generally requires both supportive and definitive strategies. Ig replacement therapy is the mainstay of therapy for B-cell disorders, and is also an important supportive treatment for many patients with combined immunodeficiency disorders. The heterogeneous group of disorders involving the T-cell arm of the adaptive system, such as severe combined immunodeficiency (SCID, require immune reconstitution as soon as possible. The treatment of innate immunodeficiency disorders varies depending on the type of defect, but may involve antifungal and antibiotic prophylaxis, cytokine replacement, vaccinations and bone marrow transplantation. This article

  8. Hyper IgM Syndrome with low IgM and thrombocytosis: an unusual case of immunodeficiency.

    Science.gov (United States)

    Yousef, Ejaz; Arshad Alvi, M

    2016-09-01

    We report a 5 years old male child with low serum IgG, IgA and IgM levels, who presented with recurrent perianal and oral ulcers, intermittent fever, and protracted diarrhea. Despite the lack of typical respiratory symptoms, low serum IgM level and persistent thrombocytosis, an X-linked hyper-IgM syndrome (X-HIGM) was considered. Laboratory investigations revealed a diagnosis of hyper-IgM syndrome caused by CD40L deficiency.

  9. Hemiconvulsion-hemiplegia-epilepsy syndrome. Magnetic resonance findings in a 3-year-old boy.

    Science.gov (United States)

    Salafia, Stefania; Praticò, Andrea D; Pizzo, Enza; Greco, Filippo; Di Bella, Domenico

    2013-01-01

    The term 'hemiconvulsion-hemiplegia-epilepsy syndrome' (HHE) was first used by Gastaut et al. to describe the se-quential combination of unilateral or predominantly unilateral clonic seizures (hemiconvulsion), occurring during the first 2 years of life, immediately followed by an ipsilateral flaccid hemiplegia lasting 7 or more days. In the following phase partial epileptic seizures occur. We report a case of HHE syndrome in a 3-year-old boy with partial seizures (hemiconvulsion lasting 15-30 minutes) followed by left hemiplegia and hyporeflexia. Magnetic resonance imaging showed diffuse and high signal hyperintensity of the whole right cerebral hemisphere. Diffusion-weighted images showed a reduction of the apparent diffusion coefficient in the subcortical region. Magnetic resonance arterio-graphy showed a narrow flow signal in the distal territory of the right middle cerebral artery. The authors emphasize the importance of neuroradiological findings in early diagnosis and in the follow-up of HHE syndrome.

  10. Identification of Virulence-Associated Plasmids in Rhodococcus equi in Humans with and without Acquired Immunodeficiency Syndrome in Brazil

    Science.gov (United States)

    Ribeiro, Márcio Garcia; Takai, Shinji; de Vargas, Agueda Castagna; Mattos-Guaraldi, Ana Luiza; Ferreira Camello, Thereza Cristina; Ohno, Ryoko; Okano, Hajime; da Silva, Aristeu Vieira

    2011-01-01

    Virulence of Rhodococcus equi strains from 20 humans in Brazil was investigated by using a polymerase chain reaction to characterize isolates as virulent (VapA), intermediately virulent (VapB), and avirulent. Nine isolates were obtained from human immunodeficiency virus (HIV)–positive patients, six from HIV-negative patients, and five from patients of unknown status. Five isolates were VapB positive, four were VapA positive, and eleven were avirulent. Among the nine isolates from HIV-positive patients, five contained VapB plasmids and two contained VapA plasmids. Five VapB-positive isolates had the type 8 virulence plasmid. Eleven of the patients had a history of contact with livestock and/or a farm environment, and none had contact with pigs. PMID:21896813

  11. Model of human aging: Recent findings on Werner’s and Hutchinson-Gilford progeria syndromes

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    Shian-ling Ding

    2008-09-01

    Full Text Available Shian-ling Ding1, Chen-Yang Shen2,3,41Department of Nursing, Kang-Ning Junior College of Medical Care and Management, Taipei, Taiwan; 2Institute of Biomedical Sciences, and 3Life Science Library, Academia Sinica, Taipei, Taiwan; 4Graduate Institute of Environmental Science, China Medical University, Taichong, TaiwanAbstract: The molecular mechanisms involved in human aging are complicated. Two progeria syndromes, Werner’s syndrome (WS and Hutchinson-Gilford progeria syndrome (HGPS, characterized by clinical features mimicking physiological aging at an early age, provide insights into the mechanisms of natural aging. Based on recent findings on WS and HGPS, we suggest a model of human aging. Human aging can be triggered by two main mechanisms, telomere shortening and DNA damage. In telomere-dependent aging, telomere shortening and dysfunction may lead to DNA damage responses which induce cellular senescence. In DNA damage-initiated aging, DNA damage accumulates, along with DNA repair deficiencies, resulting in genomic instability and accelerated cellular senescence. In addition, aging due to both mechanisms (DNA damage and telomere shortening is strongly dependent on p53 status. These two mechanisms can also act cooperatively to increase the overall level of genomic instability, triggering the onset of human aging phenotypes.Keywords: human aging, Hutchinson-Gilford Progeria syndrome, Werner syndrome

  12. PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients

    Energy Technology Data Exchange (ETDEWEB)

    Bracken, Jennifer; Robinson, Ian; Snow, Aisling; Rea, David; Phelan, Ethna [Our Lady' s Children' s Hospital, Department of Radiology, Dublin (Ireland); Watson, Rosemarie; Irvine, Alan D. [Our Lady' s Children' s Hospital, Department of Dermatology, Dublin (Ireland)

    2011-09-15

    PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome. (orig.)

  13. PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients.

    LENUS (Irish Health Repository)

    Bracken, Jennifer

    2012-02-01

    BACKGROUND: PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. OBJECTIVE: To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. MATERIALS AND METHODS: A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. RESULTS: Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin\\/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). CONCLUSION: Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome.

  14. Genetics Home Reference: Omenn syndrome

    Science.gov (United States)

    ... Omenn syndrome is one of several forms of severe combined immunodeficiency (SCID), a group of disorders that cause individuals ... Diseases Educational Resources (9 links) Boston Children's Hospital: Severe Combined Immunodeficiency (SCID) in Children Disease InfoSearch: Omenn syndrome Great ...

  15. Associação de carcinoma broncogênico com síndrome de Pancoast e síndrome da imunodeficiência adquirida Association of bronchogenic carcinoma with Pancoast's syndrome and acquired immunodeficiency syndrome

    Directory of Open Access Journals (Sweden)

    A.C. FRÖHLICH

    2000-09-01

    Full Text Available É relatado o caso de um paciente portador da síndrome de Pancoast associada à síndrome da imunodeficiência adquirida. Esta apresentação é rara, visto que os tumores mais freqüentemente associados à SIDA são o sarcoma de Kaposi e o linfoma não-Hodgkin. O paciente, com passado de uso de drogas injetáveis, internou-se para investigação de massa em ápice pulmonar, com presença de síndrome de Pancoast, sendo solicitado anti-HIV, com resultado positivo, e tendo sido feito diagnóstico de Ca brônquico não-pequenas células.A case of a patient with Pancoast's syndrome associated with acquired immunodeficiency syndrome is reported. This association is rare and Kaposi's sarcoma and non-Hodgkin lymphoma are the most recurrent tumors in AIDS. The patient was an IV drug user and was admitted to the hospital for diagnosis of apex lung mass with signs of Pancoast's syndrome. HIV serology was positive and pathology of lung mass showed non-small cell lung cancer.

  16. Radiologic findings consistent with kissing spines syndrome in Chilean thoroughbreds horses

    Directory of Open Access Journals (Sweden)

    Dario Infante

    2016-12-01

    Full Text Available Alterations in the thoracolumbar spine of racehorses are frequent and often significantly decrease their athletic performance. The most common thoracolumbar alteration in thoroughbred horses is kissing spines syndrome (KSS. The narrowing of the interespinous space, generally located between T14-T15 and T15-T16, produces this syndrome. A radiographic study was performed to 30 thoroughbred horses on the segment between T12 and T18. Two latero-lateral views from digital equipment were obtained of the T12 to T18 segment of each horse, the images were analyze and the radiographic findings established the KSS according to a grading scale. The study sample was homogeneous and the results were similar to other radiographic findings of KSS occurring in segments T14-T15 and T15-16.

  17. Dermatologic Findings in 61 Mutation-Positive Individuals with Cardio-facio-cutaneous Syndrome

    Science.gov (United States)

    Siegel, D.H.; McKenzie, J.; Frieden, I.J.; Rauen, K.A.

    2010-01-01

    Background The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the Ras/MAPK pathway. Cardio-facio-cutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair. Objective To systematically characterize the spectrum of dermatologic findings in mutation-positive individuals with cardio-facio-cutaneous (CFC) syndrome. Methods Dermatologic surveys were designed by the authors and distributed to the study participants through CFC International or directly by the authors (KAR and DHS) between July 2006 and August 2009. A second follow up survey was collected between December 2007 and August 2009. When available, digital images and medical records of the participants were obtained. Study participants included individuals with CFC who have a mutation in BRAF, MEK1, MEK2 or KRAS. Results Individuals with CFC have a variety of dermatologic manifestations caused by dysregulation of the mitogen-activated protein kinase pathway in development. Numerous acquired melanocytic nevi were one of the most striking features; greater than 50 nevi were reported by 23 % (14/61) of participants and of those, greater than 100 nevi were reported by 36% (5/14). Keratosis pilaris was reported in 80% (49/61) of cases. Ulerythema ophryogenes was common occurring in 55/61 (90%). Infantile hemangiomas occurred at a greater frequency, 26% (16/61), as compared to the general population. Conclusions CFC syndrome has a complex dermatologic phenotype with many cutaneous features, some of which allow it to be differentiated from the other Ras/MAPK pathway syndromes. Multiple café au lait macules and papillomata were not identified in this CFC cohort helping to distinguish CFC from other RASopathies, such as neurofibromatosis type 1 and Costello syndrome. PMID:21062266

  18. Prenatal sonographic findings of Beckwith-Wiedemann syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Won Sang; Lee, Jee Young; Lee, Yeon Hee [Dankook University Hospital, Chonan (Korea, Republic of)

    2000-03-15

    The Backwith-Wiedemann syndrome (BWS) is and unusual complex with variable clinical features. Major findings included defects in the abdominal wall, macroglossia and macrosomia. These features should be amenable to prenatal ultrasound detection. Serious complications are possible in the neonatal period, which may result from the hypoglycemia or the airway obstruction due to macroglossia. Accurate prenatal diagnosis allows optimum prenatal care and prevention of serious complications. We report a case of prenatally diagnosed BWS with omphalocele, macroglossia, nephromegaly and hepatic cyst.

  19. Parry-Romberg syndrome: findings in advanced magnetic resonance imaging sequences - case report

    Energy Technology Data Exchange (ETDEWEB)

    Paula, Rafael Alfenas de; Ribeiro, Bruno Niemeyer de Freitas, E-mail: alfenas85@gmail.com [Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ (Brazil). Hospital Universitario Clementino Fraga Filho; Bahia, Paulo Roberto Valle [Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ (Brazil). Dept. de radiologia; Ribeiro, Renato Niemeyer de Freitas [Hospital de Clinica de Jacarepagua, Rio de Janeiro, RJ (Brazil); Carvalho, Lais Balbi de [Universidade Presidente Antonio Carlos (Unipac), Juiz de Fora, MG (Brazil)

    2014-05-15

    Parry-Romberg syndrome is a rare disease characterized by progressive hemifacial atrophy associated with other systemic changes, including neurological symptoms. Currently, there are few studies exploring the utilization of advanced magnetic resonance sequences in the investigation of this disease. The authors report the case of a 45-year-old patient and describe the findings at structural magnetic resonance imaging and at advanced sequences, correlating them with pathophysiological data. (author)

  20. Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype.

    Science.gov (United States)

    Boban, Sharolin; Wong, Kingsley; Epstein, Amy; Anderson, Barbara; Murphy, Nada; Downs, Jenny; Leonard, Helen

    2016-09-01

    Rett syndrome is a rare but severe neurological disorder associated with a mutation in the methyl CpG binding protein 2 (MECP2) gene. Sleep problems and epilepsy are two of many comorbidities associated with this disorder. This study investigated the prevalence and determinants of sleep problems in Rett syndrome using an international sample. Families with a child with a confirmed Rett syndrome diagnosis and a MECP2 mutation registered in the International Rett Syndrome Phenotype Database (InterRett) were invited to participate. Questionnaires were returned by 364/461 (78.9%) either in web-based or paper format. Families completed the Sleep Disturbance Scale for Children and provided information on the presence, nature, and frequency of their child's sleep problems. Multivariate multinomial regression was used to investigate the relationships between selected sleep problems, age group, and genotype and linear regression for the relationships between sleep disturbance scales and a range of covariates. Night waking was the most prevalent sleep problem affecting over 80% with nearly half (48.3%) currently waking often at night. Initiating and maintaining sleep was most disturbed for younger children and those with a p.Arg294* mutation. Severe seizure activity was associated with poor sleep after adjusting for age group, mutation type, and mobility. We were surprised to find associations between the p.Arg294* mutation and some sleep disturbances given that other aspects of its phenotype are milder. These findings highlight the complexities of aberrant MECP2 function in Rett syndrome and explain some of the variation in manifestation of sleep disturbances. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  1. The Usefulness of the Preoperative Magnetic Resonance Imaging Findings in the Evaluation of Tarsal Tunnel Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Jung, Hyun Jin; Lee, Sheen Woo; Jeong, Yu Mi; Choi, Hye Young; Kim, Hyung Sik [Dept. of Radiology, Gil Hospital, Gacheon University College of Medicine, Incheon (Korea, Republic of); Park, Hong Gi; Kwak, Ji Hoon [Dept. of Orthopedic Surgery, Gil Hospital, Gacheon University College of Medicine, Incheon (Korea, Republic of)

    2012-02-15

    The purpose of this study was to access the diverse conditions that lead to the clinical manifestations of tarsal tunnel syndrome and evaluate the usefulness of magnetic resonance imaging (MRI) in preoperative evaluation. Thirty-three patients who underwent ankle MRI and surgery under the impression of tarsal tunnel syndrome were retrospectively analyzed. The findings on ankle MRI were categorized into space occupying lesions within the tarsal tunnel, space occupying lesions of the tunnel wall, and non-space occupying lesions. Associated plantar muscle atrophy was also evaluated. Medical records were reviewed for correlation of nerve conduction velocity (NCV) and surgical findings. There were 21 space occupying lesions of the tarsal tunnel, and eight lesions of tarsal tunnel wall. There were three cases with accessory muscle, three with tarsal coalition, five with ganglion cysts, one neurogenic tumor, five flexor retinaculum hypertrophy, three varicose veins, and nine with tenosynovitis of the posterior tibialis, flexor digitorum longus, or flexor hallucis longus tendon. One patient was found to have a deltoid ligament sprain. Of the 32, eight patients experienced fatty atrophic change within any one of the foot muscles. NCV was positive in 79% of the MRI-positive lesions. MRI provides detailed information on ankle anatomy, which includes that of tarsal tunnel and beyond. Pathologic conditions that cause or mimic tarsal tunnel syndrome are well demonstrated. MRI can enhance surgical planning by indicating the extent of decompression required, and help with further patient management. Patients with tarsal tunnel syndrome can greatly benefit from preoperative MRI. However, it should be noted that not all cases with tarsal tunnel syndrome have MRI-demonstrable causes.

  2. ATRA (all-trans-retinoic acid) syndrome in acute promyelocytic leukemia: clinical and radiologic findings

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Keon Ha; Goo, Jin Mo; Im, Jung Gi; Chung, Myung Jin; Do, Kyung Hyun; Park, Seon Yang [Seoul National Univ. College of Medicine, Seoul (Korea, Republic of); Seo, Joon Beom [Gachon Univ. Medical School, Gil Medical Center, Seoul (Korea, Republic of)

    2001-03-01

    To describe the clinical and radiologic findings of all-trans-retinoic acid (ATRA) syndrome in acute promyelocytic leukemia. Among 21 patients with acute promyelocytic leukemia who were treated with all-trans-retinoic acid between 1995 and 1998, we retrospectively evaluated the cases of four with ATRA syndrome. Two were male and two were female, and their mean age was 58 years. The clinical and radiologic findings of chest radiography (n=4) and HRCT (n=1) were analyzed. Between seven and 13 days after ATRA treatment, dry cough, dyspnea and high fever developed in all patients. The WBC count in peripheral blood was significantly higher [2.9-25.3(mean, 10.8)-fold] than before ATRA treatment, and in all patients, chest radiography revealed ill-defined consolidation and pleural effusion. Kerley's B line (n=3) and hilar enlargement (n=3) were also seen, and in one patient, HRCT demonstrated septal line thickening. Among four patients treated with prednisolone and Ara-C, three recovered and one died. In acute promyelocytic patients treated with all-trans-retinoic acid, radiologic findings of ill-de-fined consolidation, pleural effusion, hilar prominence and Kerley's B line may suggest ATRA syndrome. The early diagnosis of this will improve the patients' prognosis.

  3. Evolução de parâmetros antropométricos em portadores do vírus da Imunodeficiência Humana ou com Síndrome da Imunodeficiência Adquirida: um estudo prospectivo Changes in the anthropometric parameters of patients with the Human Immunodeficiency virus or Acquired Immunodeficiency Syndrome: a prospective study

    Directory of Open Access Journals (Sweden)

    Maíra Ladeia Rodrigues Curti

    2010-02-01

    Full Text Available OBJETIVO: Avaliar o estado nutricional e a evolução de parâmetros antropométricos para alterações morfológicas em pacientes vivendo com o vírus da Imunodeficiência Humana ou com Síndrome da Imunodeficiência Adquirida em uso de terapia antirretroviral de alta atividade. MÉTODOS: Trata-se de estudo de coorte prospectiva com duração de 12 meses, envolvendo indivíduos adultos, de ambos os sexos, em terapia antirretroviral recém introduzida. Os indicadores antropométricos estudados foram índice de massa corporal, circunferência de cintura, dobras cutâneas subescapular, biciptal e triciptal, avaliados com intervalos de três meses, totalizando 4 medidas do tempo. Variáveis foram descritas segundo mediana e percentis 25 e 75 e analisadas por ANOVA para medidas repetidas. RESULTADOS: A população estudada foi composta por 53 indivíduos, a maioria do sexo masculino (81%, entre 30 e 39 anos. Apenas a dobra cutânea subescapular apresentou significante variação no tempo (T1=13,7 vs T4=16,0; pOBJECTIVE: The objective of this study was to assess the nutritional status and changes in the anthropometric indicators of patients with the human Immunodeficiency virus or acquired immunodeficiency syndrome using the highly active antiretroviral therapy. METHODS: This is a 12-month prospective cohort study of adult males and females who recently started antiretroviral therapy. The anthropometric indicators studied were body mass index, waist circumference and subscapular, biceps and triceps skinfold thicknesses, taken 4 times during the year in 3-month intervals. The variables were described according to medians and 25 and 75 percentiles and analyzed by ANOVA for repeated measurements. RESULTS: The studied population consisted of 53 patients, mostly males (81% aged 30 to 39 years. Only subscapular skinfold thickness changed significantly over time (T1=13.70 vs T4=16.00, p<0.001, indicating cervical lipohypertrophy (buffalo hump. CONCLUSION

  4. Epidemiology of Oropharyngeal Candidiasis in Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome Patients and CD4+ Counts

    Science.gov (United States)

    Berberi, Antoine; Noujeim, Ziad; Aoun, Georges

    2015-01-01

    Background: The present study was directed to evaluate the forms of oropharyngeal candidiasis (OPC) and their correlation with CD4+ cell counts in human immunodeficiency virus (HIV) patients. Materials and Methods: This was a descriptive and analytical cross-sectional study carried out for a 2-year period, in which quantitative data collection methods were used. 50 patients with HIV infection were evaluated. Relationship between OPC and CD4+ was investigated. Results: Five different clinical forms were noticed on examination: pseudomembranous candidiasis 20/38 (P) was the most common one (52.6%) followed by erythematous 5/38 (13.15%), angular cheilitis 5/38 (13.15%) (AC), a combination of AC and E 4/38 (10.52%) or AC, E and P 4/38 (10.52%). Candida albicans was the most frequent specie isolated in 35 cases of OPC (92%). Candida tropicalis was isolated in 2 cases (5.26%) and Candida glabrata in 1 case (2.64%). The majority of patients with OPC had cell counts 28/38 (73%) <200 cells/mm3, followed by 9/38 (23%) at CD4+ cell counts of 201-499 cells/mm3. Conclusion: Oral Candida colonization and invasive infection occur more frequently in HIV-positive patient and is significantly more common in patients with CD4+ cell counts <200 cell/mm3. PMID:25878473

  5. Characteristics and contributions of defective, ecotropic, and mink cell focus-inducing viruses involved in a retrovirus-induced immunodeficiency syndrome of mice.

    Science.gov (United States)

    Chattopadhyay, S K; Sengupta, D N; Fredrickson, T N; Morse, H C; Hartley, J W

    1991-08-01

    LP-BM5 murine leukemia virus, a derivative of Duplan-Laterjet virus, contains a mixture of replication-competent B-tropic ecotropic and mink cell focus-inducing (MCF) viruses and a defective genome that is the proximal cause of a syndrome, murine AIDS (MAIDS), characterized by lymphoproliferation and immunodeficiency. The defective (BM5d) and ecotropic components of this mixture were molecularly cloned, and complete (BM5d) or partial (ecotropic) nucleotide sequences were determined. BM5d closely resembled the Du5H genome cloned from the Duplan virus, featuring a highly divergent p12 sequence in the gag open reading frame. In MAIDS-sensitive C57BL/6 mice, BM5d was detected in tissues within 2 weeks of infection but was absent from tissues of the MAIDS-resistant strain, A/J, 12 weeks after infection. B-cell-lineage tumors from mice with MAIDS contained and expressed BM5d, and clonal integrations of this genome were variably associated with clonal expansions of B cells in infected mice. Finally, mRNA crosshybridizing with a probe for BM5d was present in spleen but not kidney cells of uninfected B6 mice.

  6. Effect of traditional Chinese medicine for treating human immunodeficiency virus infections and acquired immune deficiency syndrome: Boosting immune and alleviating symptoms.

    Science.gov (United States)

    Zou, Wen; Wang, Jian; Liu, Ying

    2016-01-01

    To respond to the human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) epidemic in China, the integration of antiretroviral therapy (ART) and traditional Chinese medicine (TCM) has important implications in health outcomes, especially in China where the use of TCM is widespread. The National Free TCM Pilot Program for HIV Infected People began in 5 provinces (Henan, Hebei, Anhui, Hubei, and Guangdong) in 2004, and quickly scaled up to 19 provinces, autonomous regions, and municipalities in China including some places with high prevalence, 26,276 adults have been treated thus far. Usually, people with HIV infection seek TCM for four main reasons: to enhance immune function, to treat symptoms, to improve quality of life, and to reduce side effects related to medications. Evidences from randomized controlled clinical trials suggested some beneficial effects of use of traditional Chinese herbal medicine for HIV infections and AIDS. More proofs from large, well-designed, rigorous trials is needed to give firm support. Challenges include interaction between herbs and antiretroviral drugs, stigma and discrimination. The Free TCM Program has made considerable progress in providing the necessary alternative care and treatment for HIV-infected people in China, and has strong government support for continued improvement and expansion, establishing and improving a work mechanism integrating Chinese and Western medicines.

  7. The correlation between perceived social support and illness uncertainty in people with human immunodeficiency virus/acquired immune deficiency syndrome in Iran

    Directory of Open Access Journals (Sweden)

    Moosa Sajjadi

    2015-01-01

    Full Text Available Background: Illness uncertainty is a source of a chronic and pervasive psychological stress for people living with human immunodeficiency virus (HIV/acquired immune deficiency syndrome (AIDS (PLWH, and largely affects their quality of life and the ability to cope with the disease. Based on the uncertainty in illness theory, the social support is one of the illness uncertainty antecedents, and influences the level of uncertainty perceived by patients. Aim: To examine uncertainty in PLWH and its correlation with social support in Iran. Materials and Methods: This cross-sectional correlational study was conducted with 80 PLWH presenting to AIDS Research Center, Tehran, Iran in 2013. The data collected using illness uncertainty and social support inventories were analyzed through Pearson′s correlation coefficient, Spearman′s correlation coefficient, and regression analysis. Results: The results showed a high level of illness uncertainty in PLWH and a negative significant correlation between perceived social support and illness uncertainty ( P = 0.01, r = -0.29. Conclusion: Uncertainty is a serious aspect of illness experience in Iranian PLWH. Providing adequate, structured information to patients as well as opportunities to discuss their concerns with other PLWH and receive emotional support from their health care providers may be worthwhile.

  8. Atypical Mucocutaneous Leishmaniasis Caused by Leishmania braziliensis in an Acquired Immunodeficiency Syndrome Patient: T-cell Responses and Remission of Lesions Associated with Antigen Immunotherapy

    Directory of Open Access Journals (Sweden)

    Da-Cruz Alda M

    1999-01-01

    Full Text Available An atypical case of acquired immunodeficiency syndrome-associated mucocutaneous lesions due to Leishmania braziliensis is described. Many vacuolated macrophages laden with amastigote forms of the parasite were found in the lesions. Leishmanin skin test and serology for leishmaniasis were both negative. The patient was resistant to therapy with conventional drugs (antimonial and amphotericin B. Interestingly, remission of lesions was achieved after an alternative combined therapy of antimonial associated with immunotherapy (whole promastigote antigens. Peripheral blood mononuclear cells were separated and stimulated in vitro with Leishmania antigens to test the lymphoproliferative responses (LPR. Before the combined immunochemotherapy, the LPR to leishmanial antigens was negligible (stimulation index - SI=1.4. After the first course of combined therapy it became positive (SI=4.17. The antigen responding cells were predominantly T-cells (47.5% most of them with CD8+ phenotype (33%. Very low CD4+ cells (2.2% percentages were detected. The increased T-cell responsiveness to leishmanial antigens after combined therapy was accompanied by interferon-g (IFN-g production as observed in the cell culture supernatants. In this patient, healing of the leishmaniasis lesions was associated with the induction of a specific T-cell immune response, characterized by the production of IFN-g and the predominance of the CD8+ phenotype among the Leishmania-reactive T-cells.

  9. Dermoscopia da sarna crostosa associada à síndrome da imunodeficiência adquirida Dermoscopy of Norwegian scabies in a patient with acquired immunodeficiency syndrome

    Directory of Open Access Journals (Sweden)

    Loan Towersey

    2010-04-01

    Full Text Available Os autores relatam o caso de uma paciente com sarna norueguesa e síndrome da imunodeficiência adquirida com baixa aderência à terapia antirretroviral. O diagnóstico definitivo foi confirmado pelo exame parasitológico direto. A dermatoscopia mostrou sulcos escabióticos e estruturas acastanhadas em asa-delta já descritas, além de uma estrutura morfologicamente semelhante a um gongolo (diplopodasímile. Esta última representa um elemento patodiagnóstico da SN não previamente descrito. Houve boa reposta clínica ao uso oral da ivermectina e ao uso tópico da vaselina com enxofre a 10%, com concomitante melhora dos parâmetros dermatoscópicos.The authors report here on the case of a female patient with Norwegian (crusted scabies and acquired immunodeficiency syndrome whose compliance with antiretroviral therapy was poor. Definitive diagnosis was confirmed by direct microscopic examination, which revealed numerous Sarcoptes scabei. Dermoscopy showed pathognomonic scabetic burrows and brownish structures in the shape of a hand-glider with a millipede-like appearance. The latter constitutes a diagnostic feature in the pathology of Norwegian scabies that has not yet been described. The patient responded well to oral ivermectin and topical vaseline with sulphur at a proportion of 10%. There was a simultaneous improvement in dermoscopic parameters.

  10. MRI findings of hemolytic uremic syndrome with encephalopathy: widespread symmetrical distribution.

    Science.gov (United States)

    Nakamura, Hiroshi; Takaba, Hitonori; Inoue, Takeshi; Saku, Yoshisuke; Saito, Fumihiko; Ibayashi, Setsuro; Fujishima, Masatoshi

    2003-01-01

    The authors report the magnetic resonance imaging (MRI) findings in a 22-year-old woman with hemolytic uremic syndrome and encephalopathy secondary to verotoxin-producing Escherichia coli. Multiple lesions in the midbrain, cerebellum, occipital lobe, and basal ganglia showed high signal intensity on T2-weighted images with widespread symmetrical distribution. Most of these findings showed remarkable reduction on MRI images obtained 70 days after the onset. It is suggested that edema induced by local breakdown of blood-brain barrier might play an important role in the patient.

  11. Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome

    Directory of Open Access Journals (Sweden)

    Jacobs DJ

    2012-08-01

    Full Text Available David J Jacobs,1 Julia Sein,1 Audina M Berrocal,1 Alana L Grajewski,1,2 Elizabeth Hodapp11Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 2Department of Ophthalmology, University of Minnesota, Minneapolis, MN, USAAbstract: The purpose of this report is to describe the fluorescein angiography findings in a case of Rubinstein-Taybi syndrome. Fundus photography and fluorescein angiography were performed on a 6-year-old male with Rubinstein-Taybi syndrome due to CREB binding protein gene mutation. Fundus photography showed glaucomatous cupping and diffusely attenuated retinal vasculature. Choroidal vasculature was prominent due to diffuse retinal atrophy with scattered focal retinal pigment epithelial changes. Fluorescein angiography showed retinal vascular attenuation, prolonged arteriovenous transit time with delayed venous filling, late small vessel leakage, and 360 degrees of peripheral avascularity. Peripheral retinal avascularity and retinal vascular inflammation evidenced by late small vessel leakage can be demonstrated by fluorescein angiography in the retinal dystrophy of Rubinstein-Taybi syndrome.Keywords: Rubinstein-Taybi syndrome, CREB binding protein, gene mutation

  12. CT findings of swyer-james-macleod syndrome in adults: are there any different findings with aging

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Mi Jin; Kim, Joung Sook; Kim, Ji Young; Kim, Soung Hee; Jeong, Myeong Ja; Kim, Soo Hyun; Kim, Jae Hyung [Sanggye Paik Hospital, Inje University College of Medicine, Seoul (Korea, Republic of); Bae, Sang Jin [National Police Hospital, Seoul (Korea, Republic of); Woo, Jeong Joo [Eulji Hospital, Eulji University College of Medicine, Daejeon (Korea, Republic of)

    2007-02-15

    We wanted to evaluate whether there is any different finding on CT with aging for the patients suffering with adult Swyer-James-MacLeod Syndrome (SJMS). We included 11 patients (7 males and 4 females) who underwent chest CT scan among 18 patients who were suspected of suffering with SJMS on chest radiographs. The range of age was from 28 to 85 years (mean: 58.5). We evaluated the diameter of both the main pulmonary artery (MPA) with its ratio, and the diameter of the pulmonary trunk (PT) to evaluate the possibility of pulmonary arterial hypertension, and the presence or absence of bronchiectasis. We also evaluated the relationships between these findings and aging. SJMS affected the left lung in 10 of 11 patients. The mean diameter of the main pulmonary artery of the normal lung was 2.5 cm and it was 1.6 cm in the involved site. The mean ratio of the normal MPA diameter to the involved one was 1.6 and this did not correlate with age ({rho} > 0.1). The mean diameter of the pulmonary trunk was 2.8 cm and this increased with age ({rho} < 0.05). There was bronchiectasis in 6 of 11 patients, and the ratio of bronchiectasis did not correlate with age ({rho} > 0.5). SJMS absolutely affected the left lung much more than right lung. All the patients demonstrated about 1.6 times the compensatory hypertrophy of MPA of the normal lung compared with that of the affected lung on chest CT, which was irrespective of age. The presence or absence of bronchiectasis has no correlation with age.

  13. Common Variable Immunodeficiency (CVID)

    Science.gov (United States)

    ... with facebook share with twitter share with linkedin Common Variable Immunodeficiency (CVID) Common variable immunodeficiency (CVID) is ... and acquired agammaglobulinemia. Why Is the Study of Common Variable Immunodeficiency (CVID) a Priority for NIAID? CVID ...

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

    Science.gov (United States)

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

    2016-01-01

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

  15. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings.

    Science.gov (United States)

    Pinto, Anna L; Chen, Liam; Friedman, Rachel; Grant, Patricia E; Poduri, Annapurna; Takeoka, Masanori; Prabhu, Sanjay P; Sahin, Mustafa

    2016-05-01

    We describe the brain magnetic resonance imaging (MRI) abnormalities and neuropathologic findings of patients with Sturge-Weber syndrome and medically refractory epilepsy. We reviewed the clinical features, preoperative MRI studies, and pathologic findings of all patients with Sturge-Weber syndrome who underwent excisional surgery for intractable epilepsy at Boston Children's Hospital between 1993 and 2011. Eleven patients (male/female = 4/7) with Sturge-Weber syndrome were identified who underwent surgery for intractable epilepsy (mean age 13 ± 6.2 months), including hemispherectomy (n = 10) and focal cortical resection (n = 1). Mean age at seizure onset was 15 ± 11 weeks. Fifty-five percent (n = 6) of patients exhibited two different types of seizures, and 18% (n = 2) had three types of seizures. Focal clonic seizures were the most common type, occurring in nine patients; apnea was the second most common, occurring in four patients. Brain MRIs were reviewed in five patients. Histopathologic examination revealed varied degrees of cortical morphologic anomaly in seven of 11 patients. Overall, there were no abnormalities in the MRIs that corresponded directly with the pathologic findings except in one patient with polymicrogyria. In spite of pathologic findings of cortical anomalies in varied degrees, these findings could not be readily detected on brain MRIs. The failure to detect focal cortical dysplasia on MRIs may be attributable to the subtle microscopic nature of the abnormalities; in some of the older individuals, the imaging studies available for review were done during an advanced stage of the disease. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Audiological findings in children with ataxia-telangiectasia (A-T) syndrome.

    Science.gov (United States)

    Afifi, Pretty O; Elsanadiky, Hanaa Hussein

    2017-01-01

    To assess peripheral and central hearing in children with A-T. 3 children diagnosed with A-T according to the diagnostic criteria for A-T of the European Society for Immunodeficiencies. Involuntary movements were seen in the form of chorea-athetosis together with tremors. They were examined to assess both peripheral and central hearing was assessed (hearing thresholds). Sound-field testing, tympanometry, acoustic reflexes, Otoacoustic Emissions (OAEs) and Auditory Brainstem Responses (ABR) were done for all of them. Basic Audiological evaluation is of a limited value as the children are not co-operative. Sound field testing could not be done. Bilateral normal middle ear functions as reflected by Tympanometry and Acoustic Reflexes. Advanced Audiological evaluation including OAEs and ABR are more valuable in assessing hearing in children with A-T. Bilateral pass response at all test frequencies in DPOAEs. Abnormal ABR findings were obtained in the form of a delay in wave V latency more than 2 SD with subsequent increased in I-V interpeak latency with no significant interaural latency difference. Consistent with bilateral normal peripheral hearing sensitivity with central hearing affection. The rarity of the disease, make it difficult to be applied on many cases. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  17. Chronological Evolution of Magnetic Resonance Imaging Findings in Children With Febrile Infection-Related Epilepsy Syndrome.

    Science.gov (United States)

    Rivas-Coppola, Marianna S; Shah, Namrata; Choudhri, Asim F; Morgan, Robin; Wheless, James W

    2016-02-01

    To describe and analyze the chronological evolution of the radiological findings in seven children with febrile infection-related epilepsy syndrome. This is a retrospective study describing the radiological findings and evolution in seven children with febrile infection-related epilepsy syndrome who presented from 2009 to 2013. The children all fit the defined clinical criteria for febrile infection-related epilepsy syndrome; all had a history of normal psychomotor development who presented with acute-onset catastrophic partial status epilepticus associated with a febrile illness or unspecific infectious process. The children were identified from the author's weekly review of the pediatric inpatient service, and then the data were collected and analyzed retrospectively. Six males and one female ranging from 3 months to 9 years of age presented with status epilepticus preceded by a febrile illness. Extensive investigations for infectious, autoimmune, and metabolic etiologies were unremarkable. Multiple antiepileptic medications were attempted, including drug-induced coma in all of them, with poor response. Immunotherapy with intravenous steroids or intravenous immunoglobulin (three patients had both) was tried in six of seven patients with a poor response. Ketogenic diet was initiated in four of seven patients with limited response. Serial magnetic resonance imaging studies, done from the initial presentation through 18 months of follow-up, showed evolution from normal imaging to severe cerebral atrophy. Progressive cytotoxic edema involving mostly bilateral hippocampi and temporal lobes was appreciated in one to three weeks. At one month from seizure onset, mild to moderate cerebral atrophy and hippocampal sclerosis was appreciated that continued to progress over the next year. After six to twelve months, most of the patients showed moderate to severe cerebral atrophy and by one year, cerebellar atrophy was also appreciated. Febrile infection-related epilepsy

  18. Clinical features and imaging findings in a case of Capgras syndrome

    Directory of Open Access Journals (Sweden)

    Luca M

    2013-08-01

    Full Text Available Maria Luca,1 Andrea Bordone,1 Antonina Luca,2 Andrea Patti,1 Giuseppe Sortino,3 Carmela Calandra11Department of Medical and Surgery Specialties, Psychiatry Unit, 2Department GF Ingrassia, Section of Neuroscience, 3Department of Diagnostic Imaging, Radiology Unit, University Hospital Policlinico-Vittorio Emanuele, Catania, Sicily, ItalyAbstract: Capgras syndrome consists of the delusional belief that a person or persons have been replaced by doubles or impostors. It can occur in the context of both psychiatric and organic illness, and seems to be related to lesions of the bifrontal and right limbic and temporal regions. Indeed, magnetic resonance imaging has revealed brain lesions in patients suffering from Capgras syndrome. This case study reports the findings of a thorough diagnostic evaluation in a woman suffering from Capgras syndrome and presenting with the following clinical peculiarities: obsessive modality of presentation of the delusional ideation, intrusiveness of such ideation (that even disturbed her sleep, as well as a sense of alienation and utter disgust towards the double. These characteristics bring to mind the typical aspects of obsessive-compulsive disorder. Neuroanatomic investigation, through magnetic resonance imaging, performed on this patient showed alteration of the bilateral semioval centers, which are brain regions associated with the emotion of disgust and often show alterations in subjects suffering from obsessive-compulsive disorder. Hence, neuroimaging allows researchers to put forward the hypothesis of a common neuroanatomic basis for Capgras syndrome and obsessive-compulsive disorder, at least for cases in which the delusional ideation is associated with deep feelings of disgust and presents with a certain pervasiveness.Keywords: Capgras syndrome, magnetic resonance imaging, electroencephalography, obsessive-compulsive disorder, semioval centers

  19. Study of the morphological patterns and association of Epstein-Barr virus and human herpes virus 8 in acquired immunodeficiency deficiency syndrome-related reactive lymphadenopathy

    Directory of Open Access Journals (Sweden)

    Gujral S

    2010-10-01

    Full Text Available Aims: Study of the morphological patterns of acquired immunodeficiency syndrome (AIDS-related lymphadenopathy. Settings and Design: We retrospectively selected cases of AIDS-related benign lymphadenopathy. Cases with lymphomas, frank granulomas and necrosis were excluded. We analyzed different morphological patterns and correlated these with immunophenotypic markers along with viral markers human herpesvirus 8-latency-associated nuclear antigen (HHV8-LANA, and Epstein-Barr virus-encoded ribonucleic acid (EBER studies via in situ hybridization (EBER-ISH. Materials and Methods: We present the morphological patterns of 13 cases of human immunodeficiency virus (HIV-reactive lymph nodes and their clinical, hematological, biochemical and radiological parameters with special emphasis on the presence or absence of viral markers, including HHV8 and EBV. Results: Common patterns included follicular hyperplasia only (five cases, mixed pattern of follicular hyperplasia with burnt-out germinal centres (four cases, completely atretic follicle (two cases, folliculolysis (11 cases, dumbbell-shaped follicles (three each, progressive transformation of germinal centers (four cases, T-zone expansion (two cases, Reed Sternberg (RS cells like immunoblasts (two cases, Castleman′s-like features with lollipop-like follicles (three cases and a spindle cell prominence (one case. CD8+ T-cells were predominant in 12 cases. CD8+ T-cells were prominent in germinal centers (eight cases. Plasmablasts were seen in four cases within the perigerminal center area. Immunohistochemistry for HHV8, i.e. HHV8-LANA were negative in all cases while EBER was detected in 11 cases in the centrocyte-like B cells. Two cases of multicentric Castleman′s disease expressed EBER; however, they did not express HHV8. Conclusion: The wide spectrum of histological changes in HIV-associated lymphadenopathy requires recognition. The histological changes can mimic those of other infective

  20. Oral findings and dental treatment in a child with West syndrome.

    Science.gov (United States)

    Regis, Rômulo Rocha; Rocha, Cristiane Tomaz; Torres, Carolina Paes; Queiroz, Ivna Fernandes; de Queiroz, Alexandra Mussolino

    2009-01-01

    West syndrome (WS) is a rare, severe form of epilepsy that typically manifests early in infancy. It is considered a malignant condition that combines episodes of spasms that occur in clusters (infantile spasm), hypsarrhythmia on the electroencephalogram, and neuropsychomotor delay. Although WS has been widely investigated from a medical standpoint, few reports have focused on the oral findings in patients with this syndrome. This article reports the case history of a 7-year-old child diagnosed with WS. The major clinical features were generalized tooth wear and gingival enlargement, altered chronology and sequence of dental eruption, primary canine cusp-to-cusp relationship, ectopic dental eruption, and mildly arched palate. Multiple white spot lesions were also observed, possibly associated with poor oral hygiene, due to a fermentable carbohydrate-rich diet, and continuous use of sugar-containing medications. Dental care management of patients with special needs is discussed and the dental treatment for this child with WS is described.

  1. Description of common musculoskeletal findings in Williams Syndrome and implications for therapies.

    Science.gov (United States)

    Copes, L E; Pober, B R; Terilli, C A

    2016-07-01

    Williams syndrome (WS), also referred to as Williams-Beuren syndrome (WBS), is a relatively rare genetic disorder affecting ∼1/10,000 persons. Since the disorder is caused by a micro-deletion of ∼1.5 Mb, it is not surprising that the manifestations of WS are extremely broad, involving most body systems. In this paper, we primarily focus on the musculoskeletal aspects of WS as these findings have not been the subject of a comprehensive review. We review the MSK features commonly seen in individuals with WS, along with related sensory and neurological issues interacting with and compounding underlying MSK abnormalities. We end by providing perspective, particularly from the vantage point of a physical therapist, on therapeutic interventions to address the most common MSK and related features seen in WS. Clin. Anat. 29:578-589, 2016. © 2016 Wiley Periodicals, Inc.

  2. Van der Woude syndrome: Report of two cases with supplementary findings

    Directory of Open Access Journals (Sweden)

    Chandramani B More

    2013-01-01

    Full Text Available Van der Woude syndrome (VWS is a rare developmental disorder with an autosomal dominant inheritance and variable expressivity, occurring in about 1 of every 1,00,000-2,00,000 people. This syndrome is remarkably variable. It is characterized by orofacial manifestations like lower lip pits, cleft lip and/or cleft palate, hypodontia, cleft or bifid uvula, syngnathia, narrow high arched palate, ankyloglossia and hyper nasal voice. We report two interesting cases of VWS with characteristic orofacial features and an unusual additional finding of bilateral commissural pits. The purpose of this article is to facilitate understanding of etio-pathogenesis, clinical manifestations, role of genetic counseling and with special emphasis on commissural pits as an additional feature in VWS.

  3. Tc-{sup 99m} ECD brain SPECT in MELAS syndrome: comparison with MR finding

    Energy Technology Data Exchange (ETDEWEB)

    Park, Sang Joon; Ryu, Young Hoon; Yoon, Pyeong Ho; Jeon, Tae Joo; Kim, Jai Keun; Nam, Ji Eun; Lee, Jong Doo [College of Medicine, Yonsei Univ., Seoul (Korea, Republic of); Lee, Byung Hee [Poondang Cha Hospital, Sungnam (Korea, Republic of); Shin, Hyung Cheol [College of Medicine, Soonchunhyang Univ., Chonnon (Korea, Republic of)

    1998-07-01

    The purpose of this study was to evaluate SPECT findings of MELAS syndrome and mitochondrial myopathy and correlate them with MR findings in search of specific imaging features and to assess the role of SPECT in MELAS syndrome. Five patients (four females and one male; age range, 1 to 25 years) who presented with repeated stroke-like episodes or seizures or developmental delay or were asymptomatic but had elevated lactic acid in CSF and serum were evaluated with conventional noncontrast MR imaging and SPECT. MRI demonstrated increased T2 signal intensities in the affected areas of gray and white matters mainly on the parietal (4/5) and occipital lobes (4/5) and in the basal ganglias (1/5), which were not restricted to a specific vascular territory. SPECT demonstrated decreased uptake of Tc-99m ECD on parietal (5/5) and occipital (4/5) and temporal (2/5) and frontal (1/5) lobe and basal ganglia (2/5) and thalami (2/5). In a patient with mitochondrial myopathy who had normal MRI, decreased perfusion is noted on left parietal area and bilateral thalami. Comparison of the numbers of abnormal findings revealed that decreased perfusion seen on SPECT were more numerous than anatomical abnormalities seen on MRI. SPECT may be a sensitive method for pathophysiological study of metabolic disturbances in MELAS. Moreover, in patients with mitochondrial myopathy without clinical encephalopathy, SPECT may play a role in evaluating subclinical encephalopathy even with normal conventional MR findings.

  4. Serodiagnosis of Helicobacter pylori infection in patients with human immunodeficiency virus infection

    DEFF Research Database (Denmark)

    Nielsen, H; Andersen, L P

    1995-01-01

    In contrast to the established role of Helicobacter pylori gastritis in gastritis and duodenal ulcer in general, conflicting results have been reported in patients with human immunodeficiency virus (HIV) infection and the acquired immunodeficiency syndrome. The seroprevalence during early HIV...

  5. Primary parotid B-cell lymphoma successfully treated with chemotherapy plus highly active antiretroviral therapy with prolonged survival and immune reconstitution in an acquired immunodeficiency syndrome patient: Case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Marcelo Corti

    2014-01-01

    Full Text Available Non-Hodgkin′s lymphoma (NHL is the second most common acquired immunodeficiency syndrome (AIDS-defining cancer. In this population, up to 70-80% of cases may present as extranodal location as the primary clinical manifestation of the neoplasm disease. Gastrointestinal tract is the most frequent location of AIDS-associated NHL. However, salivary gland involvement, including the parotid gland is a rare complication in human immunodeficiency virus (HIV-patients. Here, we describe a patient seropositive for the HIV, who developed a primary NHL of the parotid gland histologically classified as a high-grade diffuse large B-cell lymphoma. Patient was treated with a combination of chemotherapy plus highly active antiretroviral therapy with a good clinical, virological and immunological response and a prolonged survival, more than 5 years, without evidence of neoplasm relapse.

  6. Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings.

    NARCIS (Netherlands)

    Ceruti, S.; Stinckens, C.I.C.; Cremers, C.W.R.J.; Casselman, J.W.

    2002-01-01

    OBJECTIVE: To inventory computed tomographic and magnetic resonance imaging findings in the branchio-oto-renal (BOR) syndrome. STUDY DESIGN: A prospective computed tomographic and magnetic resonance imaging study on a family with the BOR syndrome. SETTING: Department of medical imaging and magnetic

  7. Bouveret's syndrome: CT and ultrasonography findings. Sindrome de Bouveret: hallazgos en ecografia y TC

    Energy Technology Data Exchange (ETDEWEB)

    Galant Herrero, J.; Ripolles Gonzalez, T.; Martinez Rodrigo, J.; Marti Bonmati, L.; Ferrer Puchol, M.D.

    1993-10-01

    Bouveret's syndrome is a very rare cause of obstruction of gastric emptying. It is produced by the migration of a biliary calculus through a cholecystogastric or cholecystoduodenal fistula. We present a case of cholecystogastric fistula associated with this syndrome, and the ultrasonographic and computerized tomography findings. Author (6 refs)

  8. Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings.

    NARCIS (Netherlands)

    Ceruti, S.; Stinckens, C.I.C.; Cremers, C.W.R.J.; Casselman, J.W.

    2002-01-01

    OBJECTIVE: To inventory computed tomographic and magnetic resonance imaging findings in the branchio-oto-renal (BOR) syndrome. STUDY DESIGN: A prospective computed tomographic and magnetic resonance imaging study on a family with the BOR syndrome. SETTING: Department of medical imaging and magnetic

  9. Computed tomography findings in 10 cases of iliac vein compression (May-Thurner) syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Oguzkurt, Levent [Baskent University, Adana Teaching and Medical Research Center, Department of Radiology, Adana (Turkey)]. E-mail: loguzkurt@yahoo.com; Tercan, Fahri [Baskent University, Adana Teaching and Medical Research Center, Department of Radiology, Adana (Turkey); Pourbagher, M. Ali [Baskent University, Adana Teaching and Medical Research Center, Department of Radiology, Adana (Turkey); Kizilkilic, Osman [Baskent University, Adana Teaching and Medical Research Center, Department of Radiology, Adana (Turkey); Turkoz, Riza [Baskent University, Adana Teaching and Medical Research Center, Department of Thoracic and Cardiovascular Surgery, Adana (Turkey); Boyvat, Fatih [Baskent University, Faculty of Medicine, Department of Radiology, Ankara (Turkey)

    2005-09-01

    Objective: To present the computed tomography (CT) findings for the iliac veins of 10 patients who had left-sided lower extremity deep vein thrombosis due to iliac vein compression syndrome. Materials and methods: The CT findings for 10 cases of left-sided acute or chronic deep vein thrombosis caused by iliac vein compression syndrome were retrospectively evaluated. The patients were five women and five men (mean age {+-} S.D., 49.9 {+-} 15.6 years). In each patient with iliac vein compression syndrome, the diagnosis of the compression was established by venography performed during endovascular treatment. Diameter of the left common iliac vein was also measured in 14 control subjects without any lower extremity venous disease for comparison. Results: In all 10 cases, CT images in the transverse plane demonstrated the left common iliac vein being compressed by the overlying right common iliac artery. The mean diameter at the origin of the left common iliac vein (3.5 mm) in patients group was much smaller than the mean diameter of the same vein (11.5 mm) in the control group (p < 0.01). The mean percent stenosis of the left common iliac vein due to compression by the artery was 68%. Conclusion: Pelvic CT images in the transverse plane are useful for detecting iliac vein compression by the overlying right common iliac artery in patients with left-sided deep vein thrombosis. Radiologists should be aware of this imaging finding of iliac vein compression by the artery where the inferior vena cava bifurcates into the common iliac veins.

  10. Van Wyk and Grumbach syndrome revisited: imaging and clinical findings in pre- and postpubertal girls

    Energy Technology Data Exchange (ETDEWEB)

    Browne, Lorna P.; Guillerman, R.P. [Texas Children' s Hospital, Department of Diagnostic Imaging, Houston, TX (United States); Boswell, Hillary B. [Texas Children' s Hospital, Department of Gynecology, Houston, TX (United States); Crotty, Eric J.; O' Hara, Sara M.; Birkemeier, Krista L. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States)

    2008-05-15

    In 1960 Van Wyk and Grumbach described a syndrome of juvenile hypothyroidism, precocious puberty and ovarian enlargement. These findings undergo complete regression with thyroid hormone replacement therapy. This diagnosis can be made on the basis of imaging findings and thyroid function analysis, avoiding surgery. To relate the distinctive clinical and imaging features and putative pathophysiological mechanism of a series of patients with Van Wyk and Grumbach syndrome (VWGS). Patients with VWGS diagnosed at two large children's hospitals over a 6-year period beginning in 1999 were retrospectively reviewed. A literature review was also conducted. Five female patients were diagnosed with cystic ovarian enlargement and hypothyroidism at ages ranging from 9 to 17 years. Isosexual precocious puberty was found in prepubescent patients. Associated findings included delayed bone age, ascites, and pleural and pericardial effusions. Ovarian cyst involution occurred following treatment of the hypothyroidism. The association of primary hypothyroidism with cystic ovarian enlargement and precocious puberty is important to recognize. In the absence of suspected ovarian torsion, surgery is unnecessary, as cyst regression occurs after appropriate thyroid hormone replacement. Noncompliance with hormone replacement therapy should be considered when cystic ovarian enlargement is noted in patients with a history of hypothyroidism. (orig.)

  11. Evaluation of early atherosclerotic findings in women with polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Mohammadi Afshin

    2011-10-01

    Full Text Available Background Polycystic ovary syndrome (PCOS is the most common endocrinopathy in women of childbearing age, and it seems better to consider it as an ovarian manifestation of metabolic syndrome. The aim of the current study was to evaluate early atherosclerotic findings in patients with PCOS. Methods We enrolled 46 women with PCOS and 45 normal control subjects who were referred to our hospital's endocrinology outpatient clinic. Carotid intima media thickness (CIMT and flow-mediated dilatation (FMD were performed in both cases and matched controls. Results Patients with PCOS showed an increased mean CIMT (0.63 ± 0.16 mm when compared with the control subjects (0.33 ± 0.06 mm. This difference was statistically significant (p = 0.001. The mean FMD in young patients with PCOS was 10.07 ± 1.2%, while it was 6.5 ± 2.06% in normal subjects. This difference was also statistically significant (p = 0.001. Conclusion Our findings suggest that PCOS is related with early atherosclerotic findings.

  12. MR findings of sturge-weber syndrome: empahasis on vascular abnormality

    Energy Technology Data Exchange (ETDEWEB)

    Baek, Ho Kil; No, Tae Yon; Won, Jong Bu; Baik, Seung Kuk; Shin, Mi Jeong; Kim, Bong Ki; Choi, Han Yong [Wallace Memorial Baptist Hospital, Pusan (Korea, Republic of)

    1997-09-01

    To observe MR findings of vascular abnormality in Sturge-Weber syndrome and to determine the value of MRI in diagnosis. Ten patients with Sturge-Weber syndrome (age:3 months-32 years) were evaluated by MR imaging; in six and four cases, respectively, the results were correlated with those of CT and angiography. We retrospectively analysed changes in the cortical vein and deep venous system, including the medullary and subependymal vein, as well as enlargement of the choroid plexus, leptomeningeal enhancement, and changes in diploic space. In all cases except one, in which non-contrast enhanced study had been per formed, varying degrees of leptomeningeal enhancement were seen. In nine cases the cortical vein became smaller;enlargement of the choroid plexus was seen in eight cases, change in the diploic space in seven (including three in which there was angiomatous involvement), and enlargement of the deep venous system in seven. In younger patients, collateral pathways were less developed and leptomeningeal angiomatous changes were more pronounced than in those who were older. MRI is a useful modality for the evaluationn of vascular changes in Sturge-Weber syndrome. These changes vary according to a patient's age and the duration of the disease.

  13. Imaging findings in the rare catastrophic variant of the primary antiphospholipid syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Thuerl, Christina; Altehoefer, Carsten; Laubenberger, Joerg [Freiburg Univ. (Germany). Abt. Radiologie; Spyridonidis, Alexandros [Freiburg Univ. (DE). Abt. Innere Medizin 1 (Haematologie und Onkologie)

    2002-03-01

    We report imaging findings in a case of the rare catastrophic variant of antiphospholipid syndrome (CAPS) characterized by widespread microvascular occlusions, which may lead to multiple organ failure. We present a case of a 66-year-old woman with bone marrow necrosis, acute acalculous cholecystitis (AAC), focal liver necrosis, subtle patchy splenic infarctions, and bilateral adrenal infarction. The demonstration of multiple microvascular organ involvement (three or more) is crucial for the diagnosis of the catastrophic variant of APS. This can be performed radiologically intra-vitam. Imaging can even reveal subclinical microinfarctions, which are often only diagnosed at autopsy. (orig.)

  14. Frequency, determinants, and clinical relevance of acute coronary syndrome-like electrocardiographic findings in patients with acute aortic syndrome.

    Science.gov (United States)

    Biagini, Elena; Lofiego, Carla; Ferlito, Marinella; Fattori, Rossella; Rocchi, Guido; Graziosi, Maddalena; Lovato, Luigi; di Diodoro, Lara; Cooke, Robin M T; Petracci, Elisabetta; Bacchi-Reggiani, Letizia; Zannoli, Romano; Branzi, Angelo; Rapezzi, Claudio

    2007-09-15

    We investigated frequency/characteristics of acute coronary syndrome-like (ACS-like) electrocardiographic (ECG) profiles among patients with a final diagnosis of acute aortic syndrome (AAS), and explored pathophysiologic determinants and prognostic relevance within each Stanford subtype. We blindly reviewed presentation electrocardiograms of 233 consecutive patients with final diagnosis of AAS (164 Stanford type A) at a regional treatment center. Prevalence of ACS-like ECG findings was 27% (type A, 26%, type B, 29%); most were non-ST-elevation myocardial infarction-like. Patients with ACS-like ECG findings more often had coronary ostia involvement (p=0.002), pleural effusion (p=0.02), significant aortic regurgitation (p=0.01), and troponin positivity (p=0.001). ACS-like ECG profile in type A disease was independently associated with coronary ostia involvement (odds ratio [OR] 5.27, 95% confidence interval [CI] 1.75 to 15.88). ACS-like ECG profile predicted in-hospital mortality (OR 2.90, 95% CI 1.24 to 6.12), as did age (each incremental 10-year: OR 1.59, 95% CI 1.14 to 2.22), and syncope at presentation (OR 2.90, 95% CI 1.16 to 7.24). In conclusion, about 25% of our AAS patients (in either Stanford subtype) presented ACS-like ECG patterns-often with non-ST-elevation myocardial infarction characteristics-which could cause misdiagnosis. ACS-like ECG profile was associated with more complicated disease, and in type A disease was a strong independent predictor of in-hospital mortality.

  15. Megnetic resonance imaging findings in sporadic M(o)bius syndrome

    Institute of Scientific and Technical Information of China (English)

    WU Shao-qin; MAN Feng-yuan; JIAO Yong-hong; XIAN Jun-fang; WANG Yi-di; WANG Zhen-chang

    2013-01-01

    Background Although neuroradiological findings of M(o)bius syndrome have been reported as a result of brain and brainstem abnormalities,magnetic resonance imaging (MRI) now permits the direct imaging of the cranial nerve (CN) and branches in the orbits.This study presents the MRI findings in patients with sporadic M(o)bius syndrome.Methods Prospectively,CNs were imaged in the cistern using head coils and three dimensional fast imaging employing steady-state acquisition (3D-FIESTA),yielding a 0.5 mm2 resolution in planes of 0.8 mm thickness in seven patients with sporadic M(o)bius syndrome.The cavernous and intraorbital segment of the CN and the extraocular muscles (EOMs) were imaged with T1 weighting in all patients.The cavernous segment was imaged in coronal planes,while the intraorbit in quasicoronal planes were imaged using surface coils.Intraorbital resolution was 0.16 mm2 within 2.0 mm thick planes.Results In the seven patients,the CN were absent or showed hypoplasia in the cistern,cavernous sinus,and orbit.Abducens (CN Ⅵ) and facial (CN Ⅶ) nerves were absent on the affected sides.Unilateral CN IX (glossopharyngeal nerve) in two cases displayed dysplasia.Branches from the inferior division of CN Ⅲ were observed to innervate the lateral rectus (LR) bilaterally in three cases and unilaterally in one case,and had intimate continuity with the LR muscle in two cases bilaterally and two cases unilaterally.Hypoplasia of EOMs was shown in five cases.Dysplasia of the medulla on the left side was found in one patient.Conclusions Direct imaging of CNs and EOMs by MRI is useful in diagnosis of M(o)bius syndrome.It can directly demonstrate the abnormalities of the CN and orbital structures.The absence or hypoplasia of CN Ⅵ and CN Ⅶ may be the most common radiologic features in sporadic M(o)bius syndrome,and hypoplasia of CN IX may be an associated feature.The abnormality of EOMs and aberrant innervations in the orbit should be observed,and may be important for

  16. Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

    Science.gov (United States)

    Kagami, Masayo; Nagasaki, Keisuke; Kosaki, Rika; Horikawa, Reiko; Naiki, Yasuhiro; Saitoh, Shinji; Tajima, Toshihiro; Yorifuji, Tohru; Numakura, Chikahiko; Mizuno, Seiji; Nakamura, Akie; Matsubara, Keiko; Fukami, Maki; Ogata, Tsutomu

    2017-06-22

    PurposeTemple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the 14q32.2 imprinted region. Here, we report comprehensive molecular and clinical findings in 32 Japanese patients with TS14.MethodsWe performed molecular studies for TS14 in 356 patients with variable phenotypes, and clinical studies in all TS14 patients, including 13 previously reported.ResultsWe identified 19 new patients with TS14, and the total of 32 patients was made up of 23 patients with maternal uniparental disomy (UPD(14)mat), six patients with epimutations, and three patients with microdeletions. Clinical studies revealed both Prader-Willi syndrome (PWS)-like marked hypotonia and Silver-Russell syndrome (SRS)-like phenotype in 50% of patients, PWS-like hypotonia alone in 20% of patients, SRS-like phenotype alone in 20% of patients, and nonsyndromic growth failure in the remaining 10% of patients in infancy, and gonadotropin-dependent precocious puberty in 76% of patients who were pubescent or older.ConclusionThese results suggest that TS14 is not only a genetically diagnosed entity but also a clinically recognizable disorder. Genetic testing for TS14 should be considered in patients with growth failure plus both PWS-like hypotonia and SRS-like phenotypes in infancy, and/or precocious puberty, as well as a familial history of Kagami-Ogata syndrome due to maternal microdeletion at 14q32.2.Genetics in Medicine advance online publication, 22 June 2017; doi:10.1038/gim.2017.53.

  17. Standing, Obesity, and Metabolic Syndrome: Findings From the Cooper Center Longitudinal Study.

    Science.gov (United States)

    Shuval, Kerem; Barlow, Carolyn E; Finley, Carrie E; Gabriel, Kelley Pettee; Schmidt, Michael D; DeFina, Laura F

    2015-11-01

    To examine the cross-sectional relationships between standing time, obesity, and metabolic syndrome alongside and independent of leisure-time physical activity (LTPA). The primary study sample consisted of 7075 adult patients (aged 20-79 years) from Cooper Clinic (Dallas, Texas). In this cross-sectional study we assessed the associations between reported standing time and directly measured obesity (body mass index ≥ 30), elevated waist circumference (men: ≥ 102 cm; women: ≥ 88 cm), body fat percentage (men: ≥ 25%; women ≥ 30%), and metabolic syndrome (yes/no). In addition, the joint associations of standing and LTPA on each outcome were examined. Multivariable logistic regression adjusting for confounders was used for statistical analyses. Standing a quarter of the time or more was significantly associated with reduced odds of an elevated body fat percentage in men (P obesity (P obesity (P=.04) in women. In addition, joint association analyses indicated that compared with the reference group (ie, not meeting the physical activity guidelines/standing almost none of the time), men and women who met the physical activity guidelines had lower odds of all obesity outcomes and metabolic syndrome with incremental additions of standing time (ie, a dose-response relationship). Standing a quarter of the time per day or more is associated with reduced odds of obesity. The inverse relationship of standing to obesity and metabolic syndrome is more robust when combined with health-promoting LTPA. Prospective studies are warranted to confirm these findings and establish a causal relationship. Copyright © 2015 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  18. Severe combined immunodeficiency resulting from mutations in MTHFD1.

    Science.gov (United States)

    Keller, Michael D; Ganesh, Jaya; Heltzer, Meredith; Paessler, Michele; Bergqvist, A G Christina; Baluarte, H Jorge; Watkins, David; Rosenblatt, David S; Orange, Jordan S

    2013-02-01

    Folate and vitamin B(12) metabolism are essential for de novo purine synthesis, and several defects in these pathways have been associated with immunodeficiency. Here we describe the occurrence of severe combined immunodeficiency (SCID) with megaloblastic anemia, leukopenia, atypical hemolytic uremic syndrome, and neurologic abnormalities in which hydroxocobalamin and folate therapy provided partial immune reconstitution. Whole exome sequencing identified compound heterozygous mutations in the MTHFD1 gene, which encodes a trifunctional protein essential for processing of single-carbon folate derivatives. We now report the immunologic details of this novel genetic cause of SCID and the response to targeted metabolic supplementation therapies. This finding expands the known metabolic causes of SCID and presents an important diagnostic consideration given the positive impact of therapy.

  19. 473例艾滋病毒感染者和艾滋病患者中医临床症状和证候分布规律初探%A Pilot Study on the Syndromes and Symptoms of Traditional Chinese Medicine in Patients with Human Immunodeficiency Virus Infection and Acquired Immunodeficiency Syndrome: A Report of 473 Cases

    Institute of Scientific and Technical Information of China (English)

    张国梁; 徐经凤; 刘健; 陆平; 汪小波; 李玉升; 曹承楼; 昝兴平; 聂辉

    2009-01-01

    目的:对皖北地区艾滋病毒(human immunodeficiency virus, HIV)感染者和艾滋病(acquired immunodeficiency syndrome, AIDS)患者的中医临床症状和证候特点进行初步探讨.方法:采用中医临床流行病学调查方法,制定统一的临床观察表与调查方法,用Excel建立相关数据库,对症状、体征和证型的频数分布进行统计.结果:皖北地区HIV感染者和AIDS患者的感染途径主要为经血感染;临床症状以乏力、气短为最多见;HIV期以气血两亏型为最多见,AIDS期以气阴两虚、肺肾不足型,肝经风火、湿毒蕴结型,脾肾亏虚、湿邪阻滞型和气虚血瘀、邪毒壅滞型为前4位复合证型.结论:AIDS中医临床症状特征是"以虚为主,虚实夹杂,气血津液俱亏,湿毒瘀虚同在",证型特征是"复杂多变,以虚为本,多脏腑受累",病情呈现渐行性发展、渐进性加重之特点.

  20. Recent progress on functional cure for acquired immunodeficiency syndrome%艾滋病功能性治愈研究进展

    Institute of Scientific and Technical Information of China (English)

    孙佳; 朱彪

    2014-01-01

    Acquired immunodeficiency syndrome caused by HIV has been considered as one of the worldwide incurable illnesses.Despite the huge clinical success of HAART,several factors such as adverse effects,requirement of life-long adherence,high cost,and drug resistance make the request for an ultimate cure of HIV/ AIDS.The functional cure is the achievement of spontaneous drug-free control of HIV infection without disease progression.The review summarizes the main achievements in protecting HIV target cells—CD4+ T cells,CLT immune enhancement,depletion of latent reservoir,hematopoietic stem cell transplantation and gene therapy.%艾滋病是目前尚不能根治的顽疾之一,HAART虽取得了举世瞩目的疗效,但由于它的不良反应明显,需要终身服药,价格昂贵并且易出现耐药,使得研发一种能够治愈HIV/AIDS疗法成为非常迫切的任务.功能性治愈是指艾滋病患者在没有接受任何抗病毒治疗的情况下,能够持续控制HIV复制.此文将从保护HIV的靶细胞—CD4+T细胞、增强机体CTL反应、减少和打破HIV潜伏性感染、细胞移植和基因修饰治疗等方面对艾滋病功能性治愈研究的最新进展作一综述.

  1. Influence of the home environment on the prevention of mother to child transmission of human immunodeficiency virus/acquired immune-deficiency syndrome in South Africa.

    Science.gov (United States)

    Sewnunan, A; Modiba, L M

    2015-01-01

    The human immunodeficiency virus and acquired immune-deficiency syndrome (HIV/AIDS) is still a 'family crises' which marks the beginning of the deterioration of the family unit and the trauma in the emotional, psychological and material lives of both the mother and child. In South African context where the majority of HIV-positive mothers are young single women who live in extended families, disclosure to the sexual partner alone is not an adequate condition for the success of prevention of mother to child transmission (PMTCT). In South Africa, close to one in three women who attend antenatal clinics are HIV positive. KwaZulu-Natal is one of the worst affected provinces, where as many as 40-60% of pregnant women attending antenatal services are living with HIV infection. The study sought to investigate the link between the home environment and its contribution to the success of the programme on PMTCT of HIV/AIDS. A qualitative, explorative, descriptive and contextual study was used in this study to explore whether the home environment for the support system is available for the HIV-positive women on the PMTCT programme. The population of this study included all women who have undergone counselling and tested HIV positive and who have joined the programme on PMTCT of HIV/AIDS in a specific hospital in KwaZulu-Natal Province. Although 14 women agreed to participate in the study, only 10 women were interviewed as saturation was attained. Data were collected using semi-structured interview schedule. Interviews were audio-taped and field notes were taken. Content analysis was used and it was done manually. This study revealed that one of the major issues still surrounding HIV/AIDS and PMTCT is that of non-disclosure, selective disclosure and the stigma and discrimination that surrounds this disease.

  2. Knowledge and attitude of Indian clinical dental students towards the dental treatment of patients with human immunodeficiency virus (HIV)/acquired immune-deficiency syndrome (AIDS).

    Science.gov (United States)

    Oberoi, Sukhvinder Singh; Marya, Charu Mohan; Sharma, Nilima; Mohanty, Vikrant; Marwah, Mohita; Oberoi, Avneet

    2014-12-01

    Oral health care of patients with human immunodeficiency virus (HIV)/acquired immune-deficiency syndrome (AIDS) is a growing area of concern. Information on HIV- and AIDS-related knowledge among dental students provides a crucial foundation for efforts aimed at developing an appropriate dental curriculum on HIV and AIDS. The purpose of this study was to assess the knowledge and attitude of Indian clinical dental students towards the treatment of patients with HIV/AIDS and perceived sources of information regarding HIV-related issues. Data were collected from clinical dental students (third year, fourth year and internship) from three dental institutions in Delhi National Capital Region (NCR). The questions assessed the knowledge and attitude towards treatment of patients with HIV and the perceived source of information related to HIV. The willingness to treat HIV-positive patients among dental students was 67.0%, and 74.20% were confident of treating a patient with HIV/AIDS. The potential problems in rendering treatment to these patients were effect on the attitude of other patients (49.90%) and staff fears (52.50%). The correct knowledge regarding the infection-control practice (barrier technique) was found among only 15.50% of respondents. The respondents had sufficient knowledge regarding the oral manifestations of HIV/AIDS. There was no correlation between the knowledge and attitude score, demonstrating a gap between knowledge and attitude among dental students regarding treatment of HIV-infected patients. Appropriate knowledge has to be delivered through the dental education curriculum, which can instil confidence in students about their ability to manage HIV-positive patients. © 2014 FDI World Dental Federation.

  3. Knowledge, attitude, and perception of disease among persons living with human immunodeficiency virus/acquired immuno deficiency syndrome: A study from a tertiary care center in North India

    Directory of Open Access Journals (Sweden)

    Mrinal Gupta

    2016-01-01

    Full Text Available Background: Although modification of behavioral practices among human immunodeficiency virus (HIV-affected patients is important in decreasing HIV disease transmission, the knowledge, attitude, and perception studies about HIV infection rarely include persons living with HIV/acquired immuno deficiency syndrome (AIDS. Aims: To assess knowledge, attitude, and perceptions of persons living with HIV/AIDS for the disease and other epidemiological aspects. Materials and Methods: One-hundred and fifty consecutive persons living with HIV/AIDS were enrolled for this questionnaire-based cross-sectional, descriptive study. Results: These 150 patients comprised 93 men and 57 women, aged between 14 and 78 (mean 37.13 years. The majority, 112 (74.67% patients were between 20 and 50 years of age and 116 (77.3% patients were either illiterate or high-school dropouts. Drivers, laborers, and self-employed comprised 69 (74.2% patients among affected males. Only 129 (86% respondents had heard about HIV/AIDS and knew about its heterosexual transmission. Ninety-eight (65.3% respondents were aware of disease transmission from infected blood or needle pricks. Interestingly, 106 (70.7% respondents were aware of the importance of using condom in preventing disease transmission. Television/radio was the most common sources of information for 135 (90% patients. Nearly, 69% respondents disfavored disclosing their disease to friends/colleagues fearing stigmatization. Conclusions: Information, education, and communication activities are imperative to educate persons living with HIV/AIDS about life-long nature of the disease, modes of its transmission, and significance of preventive measures to bridge the gaps in their knowledge. While improvement in individual economic status, education, and health services remains highly desirable, mass media can play a pivotal role in creating awareness among masses.

  4. Imaging findings in a child with calcineurin inhibitor-induced pain syndrome after bone marrow transplant for beta thalassemia major

    Energy Technology Data Exchange (ETDEWEB)

    Ayyala, Rama S.; Arnold, Staci D.; Bhatia, Monica; Dastgir, Jahannaz [Columbia University Medical Center, Morgan Stanley Children' s Hospital, Department of Radiology, New York, NY (United States)

    2016-10-15

    Calcineurin inhibitor-induced pain syndrome is an entity recognized in patients on immunosuppressive therapy after transplantation. Diagnosis is characterized by onset of pain beginning in the setting of an elevated calcineurin-inhibitor trough level. Reducing the medication dose relieves symptoms. Imaging findings can be nonspecific, including bone marrow edema and periosteal reaction. We present the unique case of calcineurin inhibitor-induced pain syndrome in a child and review the imaging findings. (orig.)

  5. Primary Sjoegren's syndrome initially manifested by optic neuritis: MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Kadota, Y.; Tokumaru, A.M.; Kohyama, S.; Okizuka, H.; Kaji, T.; Kusano, S. [Department of Radiology, National Defense Medical College, Saitama (Japan); Kamakura, K. [Department of Internal Medicine, National Defense Medical College, Saitama (Japan)

    2002-04-01

    We herein describe the MRI findings in a patient clinically diagnosed with primary Sjoegren's syndrome (SjS) initially manifested by retrobulbar optic neuritis. A 63-year-old woman suddenly had left ocular pain and progressive visual disturbance. MR T2-weighted images revealed hyperintensity in the left optic nerve, with swelling. Contrast-enhanced T1-weighted images showed no abnormal enhancement. Follow-up MRI 6 months after admission revealed no significant changes in the affected optic nerve. To our knowledge, optic neuritis as a complication of SjS has been reported in ten patients [1, 2, 3, 4, 5, 6] and MRI findings in only one of them [6]. We thought MR images were useful for visualizing optic nerve involvement in SjS and observing its course. (orig.)

  6. [Pathology of the internal organs and central nervous system in acquired immunodeficiency syndrome (with special reference to opportunistic infections)].

    Science.gov (United States)

    Masini, T; Chinaglia, D; Riviera, L; Capricci, E; Gullotta, F; Spigolon, G; Bauer, A L

    1990-01-01

    Extracerebral and cerebral pathology in AIDS (with particular emphasis on the opportunistic infections). The Authors present the extracerebral pathology of 27 cases of AIDS observed at the Department of Pathology of Milan and the cerebral pathology of 80 cases of AIDS collected by three Institutes (Department of Pathology of Milan, Department of Pathology of Rimini and Department of Neuropathology of Münster) with particular emphasis on the pathology of the opportunistic infections. In the adults' group, the most frequent infections are the protozoan ones (T. gondii) followed with equal incidence by the viral and fungal diseases. In the pediatric group the viral diseases are the most frequently seen. Almost all of the adults show multiple infections in the same organ or in different organs. Diffuse lesions with heavy pathologic fields were observed also without tissue reaction. As to cerebral pathology AIDS' patients with opportunistic infections show focal symptoms, whereas the so called "subacute microglial encephalitis" generally appears as a demential syndrome. In cases with progressive multifocal leukoencephalopathy JC virus was always found and in one case also SV 40 - and BK virus. The diffuse demyelinization in some cases of HIV-Encephalopathy is aspecific. In HIV-positive newborns with cerebral signs, the lesions are characterized by oedema, spongiosis and microcalcifications of the basal ganglia; these are aspecific lesions which can be found in toxic and infectious encephalopathies.

  7. Esofagites em pacientes com síndrome de imunodeficiência adquirida: estudo histológico e imunoistoquímico Esophagitis in patients with acquired human immunodeficiency syndrome: an histological and immunohistochemistry study

    Directory of Open Access Journals (Sweden)

    Ana Paula Aguiar Vidal

    2007-12-01

    citomegalovírus, respectivamente. O emprego da técnica de imunoistoquímica auxilia no diagnóstico das esofagites virais e torna possível detectar o citomegalovírus em esôfagos normais à endoscopia e/ou ao exame histopatológico.BACKGROUND: Almost all patients with acquired immunodeficiency virus syndrome will have gastrointestinal symptoms during the course of their illness. The high prevalence and complications of esophagitis are well documented. AIM: Graduate esophagitis; identify microorganisms like Candida sp, cytomegalovirus, herpesvirus and mycobacteria; identify by immunohistochemical staining viral agents cytomegalovirus, herpesvirus I, herpesvirus II, Epstein-Barr Virus, human papilloma virus and human immunodeficiency virus; verify how immunohistochemistry changes the profile of esophagitis; verify the association between the histological and endoscopical findings; verify the relevance of the number of fragments studied in the characterization of the histological agents. METHODS: We studied retrospectively esophageal biopsies in 227 patients with acquired immunodeficiency virus syndrome using hematoxylin and eosin, PAS (periodic acid of Schiff, Groccott and Ziehl-Nielsen stains and immunoperoxidase stains to detect opportunistic agents. Endoscopic aspects were studied. RESULTS: The non-specific esophagitis grade III, in the inferior third of the esophagus, was the most frequent type. Candida sp was the most frequent agent, followed by viruses cytomegalovirus, herpesvirus and mycobacteria. The presence of plaque and ulceration suggested the diagnosis of esophageal candidiasis and cytomegalovirus esophagitis. Immunohistochemical allowed the characterization of cytomegalovirus and of herpesvirus in those cases where other techniques could not achieve it, furthermore the cytomegalovirus was also found in histological normal cases, making the use of this technique advisable in routine diagnosis. The herpesvirus I was not found isolated but associated to

  8. MRI findings in the patients with the presumptive clinical diagnosis of Tolosa-Hunt syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Cakirer, Sinan [Department of Radiology, Neuroradiology Section, Istanbul Sisli Etfal Hospital, 81120 Istanbul (Turkey)

    2003-01-01

    The aim of this study was to present our experience in MRI diagnosis of 23 patients with the clinical findings suggesting Tolosa-Hunt syndrome (THS). Cranial MRI studies of the patients with a clinical history of at least one episode of unilateral or bilateral orbital and periorbital pain, and associated paresis of one or more of third to sixth cranial nerves, were performed on a 1.5-T MRI scanner. Whereas 5 patients had the diagnosis of THS, paracavernous meningiomas in 4 patients, pituitary macroadenomas with cavernous sinus infiltration in 3 patients, Meckel's cave neurinoma in 1 patient, and suprasellar epidermoid in 1 patient were surgically proven MRI findings. Other pathological MRI findings were leptomeningeal metastases in 3 patients, granulomatous pachymeningitis sequelae in 2 patients, and aneurysm with compression on cavernous sinus in 1 patient. Three patients had normal MRI findings. The incidence of radiologically proven diagnosis of THS among the patients with the clinical findings suggesting THS seemed to be low in our study. In conclusion, MRI is the most valuable imaging technique to distinguish THS from other THS-like entities, and permits a precise assessment, management, and therapeutic planning of the underlying pathological conditions. (orig.)

  9. Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome.

    Science.gov (United States)

    Eckmann-Scholz, Christel; Jonat, Walter; Zerres, Klaus; Ortiz-Brüchle, Nadine

    2012-10-01

    To describe early ultrasound findings in Meckel-Gruber syndrome (MKS) in first and second trimester of three families, detailed ultrasound findings have been documented in addition to pathoanatomical findings and results of DNA studies. A splice site mutation in the MKS4 gene could be detected. Clinical management accounting risk assessment for future pregnancies is discussed and early ultrasound markers in MKS are described. All cases were examined in a tertiary center for prenatal diagnosis by ultrasound. Necroscopy confirmed the clinical diagnosis. Fetal DNA analysis was accomplished in a reference center for MKS. In addition, ultrasound findings in early pregnancy of two further cases are described. Three couples presented with pregnancies complicated by MKS. The earliest diagnosis was suspected in 11 + 6 weeks of gestation and was confirmed in 13 + 0 weeks by ultrasound revealing a large occipital encephalocele and polycystic kidneys. Another case with recurrent MKS in two consecutive pregnancies was diagnosed in 20 weeks and 14 weeks of gestation, respectively. Here a close molecular genetic follow-up was performed leading to the detection of two mutations in the MKS4 gene in both fetuses. The third case was diagnosed in 15 weeks of gestation. Ultrasound findings in all pregnancies were doubtless and autopsies confirmed the diagnosis. Detection of MKS is already possible in the first trimester. Knowledge of the underlying genetic defect helps counseling the couples with recurrence of MKS and chorionic villi sampling in the first trimester of pregnancy can be offered.

  10. Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings.

    Science.gov (United States)

    Herman, T E; Siegel, M J; Lee, B C; Dowton, S B

    1993-01-01

    A phenotypically female infant with 46-XY chromosomes was found to have Smith-Lemli-Opitz syndrome, type II a rare congenital malformation syndrome with many features of the more common classic Smith-Lemli-Opitz syndrome. The patient's skeletal survey revealed characteristic and previously undescribed skeletal anomalies which are reported. In addition a lipoma of the pituitary gland was found on magnetic resonance imaging. This lesion is particularly interesting given the hypothesized steroid abnormality in Smith-Lemli-Opitz, type II syndrome, the sexual ambiguity of males with this syndrome and the similarity of this syndrome to the Pallister-Hall syndrome which characteristically has a hamartoblastoma of the hypothalamus.

  11. Bacteremia por Rhodococcus equi em paciente com síndrome da imunodeficiência adquirida: relato de caso Bacteremia due to Rhodococcus equi in a patient with acquired immunodeficiency syndrome: case report

    Directory of Open Access Journals (Sweden)

    Carina Secchi

    2006-12-01

    Full Text Available Rhodococcus equi é um importante agente de infecções zoonóticas, podendo causar sérias infecções em humanos, principalmente em pacientes imunocomprometidos. Neste estudo, nós relatamos o caso de uma bacteremia fatal devido a Rhodococcus equi em paciente com síndrome da imunodeficiência adquirida (HIV positivo.Rhodococcus equi is an important agent for zoonotic infections, and may cause serious infections in humans, especially immunocompromised patients. In this study, a case of fatal bacteremia due to Rhodococcus equi in a patient with acquired immunodeficiency syndrome (HIV positive is reported.

  12. Aicardi syndrome: a case report and radiologic findings; Sindrome de Aicardi: relato de caso e achados radiologicos

    Energy Technology Data Exchange (ETDEWEB)

    Granzotto, Enrico; Prado, Cecilia Hissae Miyake Almeida; Barros, Andre Della Barba; Botter, Carlos Eduardo [Clinica Radiologica Documenta Ltda., Ribeirao Preto, SP (Brazil)]. E-mail: gram79@gmail.com; Mendes, Rozana de Miranda [Santa Casa de Ribeirao Preto, SP (Brazil); Granzotto, Ticiana [Curso de Especializacao em Oftalmologia Professor Ivo Correa Meyer de Porto Alegre, RS (Brazil)

    2008-07-01

    The authors report the findings of Aicardi syndrome, a disease of unknown etiology composed of multiple spasms, chorioretinal lacunae and agenesis of the corpus callosum. They present a case of Aicardi syndrome with characteristic clinical presentation and magnetic resonance imaging findings. The disease, despite being considered rare, has characteristic imaging findings. Over the past years magnetic resonance imaging has improved its ability in demonstrating other findings besides agenesis of the corpus callosum, making the radiologist's role very important in the diagnostic suspicion of this disease. (author)

  13. Madelung综合征的CT与MRI表现%CT and MRI findings of Madelung syndrome

    Institute of Scientific and Technical Information of China (English)

    刘昌华; 曾英琅; 邹东鲁; 吴贵华

    2011-01-01

    目的 探讨Madelung综合征的CT与MRI表现特征.方法 搜集5例Madelung综合征患者,5例中Ⅰ型3例,Ⅱ型2例.5例患者均行CT检查,1例行CT增强扫描,2例行MR平扫.分析其临床特点及影像表现.结果 3例Ⅰ型Madelung综合征表现为躯干上部浅层皮下脂肪及颈深层脂肪增多,肿物弥漫分布于颈部、上胸及肩部,呈现"马颈圈"、"牛颈"样特征性表现;2例Ⅱ型表现为四肢近端、前胸壁皮下脂肪明显增厚,呈"大力水手"的特殊外观;5例患者均有腹直肌前方、腹股沟皮下脂肪增厚及阴囊内脂肪堆积.CT显示病变部位浅层皮下脂肪增多,CT值为-30~-70 HU;MR T1WI、T2WI及T2WI脂肪抑制序列均能显示增厚的脂肪组织,呈典型的短T1、长T2信号,在脂肪抑制序列上呈低信号,脂肪组织间有纤维组织分隔.结论 结合长期大量酗酒史,CT与MR检查对Madelung综合征可明确诊断,并明确病变范围及周围组织分界,对手术治疗方案提供有价值的信息.%Objective To determine the CT and MR findings of Madelung syndrome. MethodsFive cases of Madelung syndrome were collected in our hospital from February 2006 to June 2009, including 3 cases of typeⅠMadelung syndrome and 2 cases of typeⅡ Madelung syndrome. The 5 cases were all examined by CT, meanwhile 1 case by CT enhancement scanning and 2 cases by MR. The clinical characteristics and imaging manifestations were analyzed. Results CT and MR images in 3 patients of typeⅠMadelung syndrome displayed fat accumulation within the subcutaneous tissue of the upper trunk and deep layer tissue of neck. The diffuse masses were located around the neck, upper chest and shoulders, which were called "horse collar"and " buffalo humps". The other 2 cases of type Ⅱ Madelung syndrome displayed fat thickening within the subcutaneous tissue of the proximal extremities, anterior chest wall, showing special appearance of "vigorous sailor". All the 5 patients showed fat deposit

  14. A constant threat for HIV: Fc-engineering to enhance broadly neutralizing antibody activity for immunotherapy of the acquired immunodeficiency syndrome.

    Science.gov (United States)

    Nimmerjahn, Falk

    2015-08-01

    Passive immunotherapy with polyclonal or hyperimmune serum immunoglobulin G (IgG) preparations provides an efficient means of protecting immunocompromised patients from microbial infections. More recently, the use of passive immunotherapy to prevent or to treat established infections with the human immunodeficiency virus (HIV) has gained much attention, due to promising preclinical data obtained in monkey and humanized mouse in vivo model systems, demonstrating that the transfer of HIV-specific antibodies can not only prevent HIV infection, but also diminish virus load during chronic infection. Furthermore, an array of broadly neutralizing HIV-specific antibodies has become available and the importance of the IgG constant region as a critical modulator of broadly neutralizing activity has been demonstrated. The aim of this review is to summarize the most recent findings with regard to the molecular and cellular mechanisms responsible for antibody-mediated clearance of HIV infection, and to discuss how this may help to improve HIV therapy via optimizing Fcγ-receptor-dependent activities of HIV-specific antibodies.

  15. Human immunodeficiency virus endocrinopathy

    Directory of Open Access Journals (Sweden)

    Uma Sinha

    2011-01-01

    Full Text Available Human immunodeficiency virus (HIV endocrinopathy encompasses a broad spectrum of disorders. Almost all the endocrine organs are virtually affected by HIV infection. HIV can directly alter glandular function. More commonly secondary endocrine dysfunction occurs due to opportunistic infections and neoplasms in immunocompromised state. The complex interaction between HIV infection and endocrine system may be manifested as subtle biochemical and hormonal perturbation to overt glandular failure. Antiretroviral therapy as well as other essential medications often result in adverse endocrinal consequences. Apart from adrenal insufficiency, hypogonadism, diabetes and bone loss, AIDS wasting syndrome and HIV lipodystrophy need special reference. Endocrinal evaluation should proceed as in other patients with suspected endocrine dysfunction. Available treatment options have been shown to improve quality of life and long-term mortality in AIDS patients.

  16. MR imaging findings suggestive of posterior reversible encephalopathy syndrome in adolescents with systemic lupus erythematosus

    Energy Technology Data Exchange (ETDEWEB)

    Muscal, Eyal; De Guzman, Marietta M.; Myones, Barry L. [Texas Children' s Hospital, Baylor College of Medicine and Pediatric Rheumatology Center, Houston, TX (United States); Traipe, Elfrides; Hunter, Jill V. [Texas Children' s Hospital, Baylor College of Medicine and Diagnostic Imaging, Houston, TX (United States); Brey, Robin L. [University of Texas Health Science Center at San Antonio, Department of Neurology, San Antonio, TX (United States)

    2010-07-15

    Endothelial damage, hypertension and cytotoxic medications may serve as risk factors for the posterior reversible encephalopathy syndrome (PRES) in systemic lupus erythematosus. There have been few case reports of these findings in pediatric lupus patients. We describe clinical and neuroimaging findings in children and adolescents with lupus and a PRES diagnosis. We identified all clinically acquired brain MRIs of lupus patients at a tertiary care pediatric hospital (2002-2008). We reviewed clinical features, conventional MRI and diffusion-weighted imaging (DWI) findings of patients with gray- and white-matter changes suggestive of vasogenic edema and PRES. Six pediatric lupus patients presenting with seizures and altered mental status had MRI findings suggestive of PRES. In five children clinical and imaging changes were seen in conjunction with hypertension and active renal disease. MRI abnormalities were diffuse and involved frontal regions in five children. DWI changes reflected increased apparent diffusivity coefficient (unrestricted diffusion in all patients). Clinical and imaging changes significantly improved with antihypertensive and fluid management. MRI changes suggestive of vasogenic edema and PRES may be seen in children with active lupus and hypertension. The differential diagnosis of seizures and altered mental status should include PRES in children, as it does in adults. (orig.)

  17. Tc-99m ECD brain SPECT in MELAS syndrome and mitochondrial myopathy: comparison with MR findings

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    Park, Sang Joon; Ryu, Young Hoon; Jeon, Tae Joo; Kim, Jai Keun; Nam, Ji Eun; Yoon, Pyeong Ho; Yoon, Choon Sik; Lee, Jong Doo [College of Medicine, Yonsei Univ., Seoul (Korea, Republic of)

    1998-08-01

    We evaluated brain perfusion SPECT findings of MELAS syndrome and mitochondrial myopathy in correlation with MR imaging in search of specific imaging features. Subjects were five patients (four females and one male; age range, 1 to 25 year) who presented with repeated stroke like episodes, seizures or developmental delay or asymptomatic but had elevated lactic acid in CSF and serum. Conventional non-contrast MR imaging and Tc-99m-ethyl cysteinate dimer (ECD) brain perfusion SPECT were performed and imaging features were analyzed. MRI demonstrated increased T2 signal intensities in the affected areas of gray and white matters mainly in the parietal (4/5) and occipital lobes (4/5) and in the basal ganglia (1/5), which were not restricted to a specific vascular territory. SPECT demonstrated decreased perfusion in the corresponding regions of MRI lesions. In addition, there were perfusion defects in parietal (1 patient), temporal (2), and frontal (1) lobes and basal ganglia (1) and thalami (2). In a patient with mitochondrial myopathy who had normal MRI, decreased perfusion was noted in left parietal area and bilateral thalami. Tc-99m ECD SPECT imaging in patients with MELAS syndrome and mitochondrial myopathy showed hypoperfusion of parieto-occipital cortex, basal ganglia, thalamus and temporal cortex, which were not restricted to a specific vascular territory. There were no specific imaging features on SPECT. The significance of abnormal perfusion on SPECT without corresponding MR abnormalities needs to be evaluated further in larger number of patients.

  18. [Pathogenesis and Laboratory Findings in Antiphospholipid Syndrome, Especially Associated with Lupus Anticoagulant].

    Science.gov (United States)

    Ieko, Masahiro; Naito, Sumiyoshi; Yoshida, Mika; Takahashi, Nobuhiko

    2015-10-01

    Antiphospholipid syndrome (APS), an acquired thrombotic condition, is a complex clinical state characterized by the presence of circulating antiphospholipid antibodies in patients with thrombosis or pregnancy morbidity. Revised APS classification criteria are used for diagnosis, which include at least one clinical criterion (thrombosis or pregnancy loss) and at least one of the laboratory criteria [anticardiolipin antibodies, anti-β2GPI antibodies, lupus anticoagulant (LA)]. LA is also an independent risk factor for developing thrombosis, though some LA-positive cases have been reported to have a bleeding symptom. Lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS) is a rare disorder characterized by a bleeding tendency due to low prothrombin activity in patients with LA, and has recently been reported not only in children but also in adults We have encountered LA cases with bleeding and low coagulation factor activities except for prothrombin. Based on our findings, we propose that LA-positive cases with a bleeding symptom and characterized by low coagulation factor activity including prothrombin be termed lupus anticoagulant-associated coagulopathy (LAAC). Furthermore, coagulation factor autoantibodies are often detected in LAAC patients; thus, correct measurement of LA is important to distinguish LAAC patients from those possessing an inhibitor to coagulation factors such as acquired hemophilia A as well as to select the optimal therapeutic strategy.

  19. Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life

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    Carvalho-Neto, Arnolfo de; Ono, Sergio Eiji; Cardoso, Georgina de Melo; Santos, Mara Lucia Schmitz Ferreira; Celidonio, Izabela [Hospital Pequeno Principe, Curitiba, PR (Brazil)], e-mail: ono.sergio@gmail.com

    2009-06-15

    The oculocerebrorenal syndrome of Lowe (OCRL), was first recognized as a distinct disease in 1952 by Drs. Lowe, Terrey and MacLachlan at Massachusetts General Hospital, in Boston, USA, describing three male children with organic aciduria, decreased renal ammonia production, hydrophtalmos and mental retardation. The X-linked recessive inheritance pattern was recognized first by LeFebvre. It is present in all races, with a predominance in those of Caucasian and Asian ancestries. Rarely females are affected. It is a very rare disease, with estimated prevalence in the general population of 1 in 500,000. In USA the Lowe Syndrome Association (LSA) documented 190 living patients in the year 2000 (0.67 x million inhabitants). It is caused by a mutation in the gene encoding oculocerebrorenal- Lowe protein (OCRL1), isolated in 1992, linked to the Xq24-q26 region of the X chromosome,4-6. Approximately 60% of OCRL patients demonstrate a loss of OCRL gene expression, and the definitive laboratory test, that can be used for prenatal diagnosis, is the biochemical assay for deficiency of phosphatidylinositol 4,5-biphosphate 5-phosphate in cultured fibroblasts. The classic triad of eye, central nervous system, and kidney involvement are required for the diagnosis of Lowe's syndrome. Cataract is present at birth in all patients and glaucoma is detected within the first year of life. Hypotonia compromises suction and causes serious respiratory problems in the first period of life. Motor development is retarded and mental retardation is moderate or severe in almost all cases. Obsessive-compulsive behavior is typical. Seizure is seen in approximately 50% of the patients over 18 years old. Renal disease is primarily characterized by renal Fanconi syndrome but many children are asymptomatic at birth. Renal involvement is initially related to bicarbonate, salt and water wasting, causing failure to thrive. Later, a significant number of patients develop chronic renal failure. The

  20. Distribution of pathological finding in the children with nephrotic syndrome from Guangxi

    Directory of Open Access Journals (Sweden)

    Tian-Biao Zhou

    2014-01-01

    Full Text Available To identify the variations in pediatric renal biopsy pathology and clinicopathological features in Guangxi, China, in the past ten years, we studied retrospectively the kidney biopsies performed to evaluate the primary nephrotic syndrome (PNS in 218 children at two main medical centers in Guangxi from January 1999 to January 2009. The major pathological finding was mesangial proliferative glomerulonephritis (48.2%, focal segmental glomerulosclerosis (16.5%, immunoglobulin A nephropathy (13.3% and minimal change disease (11.0%. Patients with different pathological types yielded different response rates to glucocorticoids (P <0.001. There were statistical significant differences between prognosis for the different pathological types (P <0.05. The pathological characteristics of PNS in children were diverse and significant for guiding the grade of glucocorticoid response and predicting the prognosis of the PNS disease.

  1. [MRI findings in iliotibial band friction syndrome: a report of two cases].

    Science.gov (United States)

    Isusi, M; Oleaga, L; Campo, M; Grande, D

    2007-01-01

    We present the magnetic resonance imaging (MRI) findings in two males clinically diagnosed with iliotibial band friction syndrome (IBFS), a frequent cause of pain in the lateral compartment of the knee. Coronal T2-weighted images with fat saturation show an ill-defined area of high signal intensity in the soft tissues situated immediately below the iliotibial band lateral to the external condyle of the femur. No thickening of the iliotibial band or changes in its signal intensity were observed. Osseous edema and subchondral osseous erosion in the external condyle of the femur were observed in both cases. Pain in the lateral compartment of the knee might be due to multiple causes that should be included in the differential diagnosis and MRI can play a significant role in reaching the definitive diagnosis.

  2. Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome.

    Science.gov (United States)

    Halayem, Soumeyya; Hamza, Mariem; Maazoul, Faouzi; Ben Turkia, Hadhemi; Touati, Maissa; Tebib, Neji; Mrad, Ridha; Bouden, Asma

    2016-04-01

    Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre and post natal overgrowth, facial malformations, and visceral, skeletal, and neurological anomalies. The physical characteristics of SGBS have been well documented; however there is a lack of description regarding the behavioral phenotype. We report the case of a 6-year-old boy, with confirmed deletion of 6-8 exons of the glypican-3 gene (GPC3) who presents three distinctive findings: the persistence of the craniopharyngeal canal, an immune-allergic specificity, and a scarcely behavioral phenotype consisting in the association of Austim Spectrum Disorder with accompanying mild intellectual disability and language impairments. He also fulfilled the criteria of Attention Deficit Hyperactivity Disorder and Oppositional Defiant Disorder according to DSM 5 criteria. The specificities of the case are discussed in the light of recent pathophysiological data.

  3. Churg-Strauss Syndrome with Cardiac Involvement: A Case Report with CT and MRI Findings

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Seong Joo; Cho, Young Jun; Kim, Keum; Hwang, Cheol Mok; Kim, Dae Ho [Dept. of Radiology, Konyang University College of Medicine, Daegu (Korea, Republic of); Choi, Eu Gene [Dept. of Internal Medicine, Konyang University College of Medicine, Daegu (Korea, Republic of)

    2012-02-15

    This is a case report of Churg-Strauss Syndrome (CSS) associated with cardiac involvement which is demonstrated in chest CT and cardiac MRI (CMR) without specific cardiac symptoms. A 32-year-old woman had a 3-year history of bronchial asthma, chronic sinusitis, and otitis media. The patient had various typical findings of CSS. The patient had no specific cardiac symptoms or signs such as chest pain, palpitations, syncope, or murmur, but she had diffuse low attenuation lesions in the inner wall of the left ventricle (LV) in contrast-enhanced CT. This corresponded to the area of subendocardial hyperenhancement in delayed contrast-enhanced CMR images. She was treated with steroids for 2 months. Follow-up delayed contrast-enhanced CMR of the LV showed a decrease in the size of the subendocardial enhancement area, and she had no symptoms. Therefore, the radiologist and clinician both should pay careful attention to observe possible cardiac involvement in case of CSS.

  4. Abnormal Auditory Brainstem Response (ABR Findings in a Near-Normal Hearing Child with Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Bahram Jalaei

    2017-01-01

    Full Text Available Introduction: Noonan syndrome (NS is a heterogeneous genetic disease that affects many parts of the body. It was named after Dr. Jacqueline Anne Noonan, a paediatric cardiologist.Case Report: We report audiological tests and auditory brainstem response (ABR findings in a 5-year old Malay boy with NS. Despite showing the marked signs of NS, the child could only produce a few meaningful words. Audiological tests found him to have bilateral mild conductive hearing loss at low frequencies. In ABR testing, despite having good waveform morphology, the results were atypical. Absolute latency of wave V was normal but interpeak latencies of wave’s I-V, I-II, II-III were prolonged. Interestingly, interpeak latency of waves III-V was abnormally shorter.Conclusion:Abnormal ABR results are possibly due to abnormal anatomical condition of brainstem and might contribute to speech delay.

  5. Breast varices: imaging findings of an unusual presentation of collateral pathways in superior vena caval syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Oezdemir, Ayseguel E-mail: aozdemir@tip.gazi.edu.tr; Ilgit, Erhan T.; Konus, Oeznur L.; Cetin, Meltem; Oezsunar, Yelda

    2000-11-01

    Imaging findings are presented of an unusual pathway of collateral circulation consisting of bilateral and diffuse dilated breast veins from a patient with long standing superior vena caval syndrome. The main importance of this case is the extent of the collateral development through the breast veins, serving as the major pathway of collateral circulation. Identification of this unusual collateral development, which resembles breast varices, was performed with contrast-enhanced chest CT scans, digital subtraction venography, color Doppler ultrasonography, and mammographic studies. Collateral development was secondary to a long segment idiopathic venous occlusion involving bilateral subclavian and brachiocephalic veins as well as vena cava superior. We conclude that dilated breast veins when detected on any imaging modality should raise the suspicion of central venous obstruction.

  6. [GASTROINTESTINAL SYMPTOMS IN ACQUIRED IMMUNODEFICIENCY SYNDROME (AIDS): A REVIEW OF ONE HUNDRED CASES AT "ARZOBISPO LOAYZA" HOSPITAL

    Science.gov (United States)

    Uribe M, Rosario; Valdivia R, Mario; Carrasco E, Juan

    1997-01-01

    In 1996, one hundred health histories of HIV serum positive patients were reviewed using the Elisa and Western Blot techniques at the Arzobispo Loayza National Hospital. Such cases were defined according to Case Definition 1987 CDC/WHO. 70% of HIV serum positive patients showed gastrointestinal symptoms according to the first medical examination. 57% of the patients were younger than 30 years old, most of them were men (men/ women ratio: 2.7/1). 59% of the patients were heterosexual, 26% bisexual, and 15% homosexual. Chronic diarrhea was the main symptom, characterized by watering depositions over 10c/d. Giardia lamblia was isolated in 32% of the cases, while Isospora Belli in 16% and Criptosporidium in 12.5%. The laboratory findings of 7 patients (12.5%) were negative. Patients showed more than 10% weight loss. 10% of the patients had an anorectal disease while 7 of the patients (10%) had an hepatic-billiary disease. The odynophagia and dysphagia were explained by oropharyngeal candidiasis. 2.8% of the patients had acalculous cholecystitis; 2.8% suffered from acute pancreatic disease and 1.4% ascitis. The hepatic biochemistry was affected by the serum albumin reduction, the transaminases increase over 2-3 times compared to normal levels and the alkaline phosphatase, bilirrubina was about 5 mg. The high endoscopic diagnostic was in connection to the candida esophagitis and inflammatory pathology. In proctoscopy, condyloma acuminatum and perianal fistula were the most usual findings. The counting of CD4 leukocytes in 20 patients showed a great reduction of CD4 lymphocytes, in values lesser than 200 cel/mm3. The relation CD4/CD8 goes from 0.01 to 0.91 rates.

  7. Aicardi syndrome: epilepsy surgery as a palliative treatment option for selected patients and pathological findings.

    Science.gov (United States)

    Podkorytova, Irina; Gupta, Ajay; Wyllie, Elaine; Moosa, Ahsan; Bingaman, William; Prayson, Richard; Knight, Elia M Pestana

    2016-12-01

    The optimal treatment for medically refractory epilepsy in Aicardi syndrome (AS) is still unclear. Palliative surgical treatment, including vagus nerve stimulation and corpus callosotomy, has therefore been used. There is limited data on the role of resective epilepsy surgery as a treatment choice in patients with AS. Here, we describe the seizures, anatomo-pathological findings, and neurodevelopmental outcome of palliative epilepsy surgery in two children with AS who had resective epilepsy surgery at the Cleveland Clinic. The related literature is also reviewed. Case 1 had a left functional hemispherectomy and was free of seizures and hypsarrhythmia for six months after surgery. Her gross motor skills improved after surgery. Outcome at 43 months was 1-3 isolated spasms per day. Case 2 had a right fronto-parietal lobectomy. Her seizures improved in frequency and severity, but remained daily after epilepsy surgery. Neurodevelopment changes included improved alertness and recognition of caregivers. This patient died 21 months after epilepsy surgery of unclear causes. Surgical pathology in both cases showed focal cortical dysplasia associated with other findings, such as nodular heterotopia and polymicrogyria. Epilepsy surgery could be an alternative palliative treatment choice in selective cases of AS, but studies on a larger patient cohort are needed to identify the possible role of surgery in children with AS. The complexity of the pathological findings may offer an explanation for the severity of seizures in AS.

  8. Brain MRI findings of older patients with Pallister-Killian syndrome.

    Science.gov (United States)

    Saito, Yoshiaki; Masuko, Kaori; Kaneko, Kaori; Chikumaru, Yuri; Saito, Kazuyo; Iwamoto, Hiroko; Matsui, Akira; Aida, Noriko; Kurosawa, Kenji; Kuroki, Yoshikazu; Kimura, Seiji

    2006-01-01

    Pallister-Killian syndrome (PKS) is a disorder caused by a mosaic tetrasomy of chromosome 12p, which manifests with dysmorphism, intellectual disabilities, auditory disturbance, and epilepsy. Here, we describe the findings of brain magnetic resonance (MR) imaging in two patients with PKS. One patient, a 43-year-old man, showed multiple lesions with high signal intensity on T2-weighted image (WI) in the basal ganglia, and widespread T2 elongation in the periventricular white matter. The same signal change was also present in the pontine base. The other patient, a 37-year-old woman, showed T2-high lesions in the bilateral putamina and the parietal periventricular white matter. There was prominent atrophy of the cerebellum and brainstem in this latter case. Both cases showed cortical atrophy with frontal predominance, with accompanying dilatation of the lateral ventricles. Hypoplastic corpus callosum was also present in both cases. Cerebral atrophy with ventricular dilatation has been often described in PKS cases, but many of the MR findings in the present patients have never been reported. Such findings may appear with advancing age in PKS. Since 12p mosaicism is rarely detected in peripheral blood lymphocytes, examination of buccal mucosal cells with fluorescent in situ hybridization method is preferable for the diagnosis of PKS. Recognition of the characteristic features on cranial MR imaging, in addition to the characteristic facial appearance in adulthood, should prompt the correct diagnosis of adult PKS patients.

  9. Pulmonary involvement in Churg-Strauss syndrome: an analysis of CT, clinical, and pathologic findings

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yoon Kyung; Lee, Kyung Soo; Chong, Semin; Chung, Myung Jin; Yi, Chin A.; Kim, Ha Young [Samsung Medical Center, Sungkyunkwan University School of Medicine, Department of Radiology and Center for Imaging Science, Seoul (Korea); Chung, Man Pyo [Samsung Medical Center, Sungkyunkwan University School of Medicine, Division of Pulmonary and Critical Care Medicine, Department of Medicine, Seoul (Korea); Han, Joungho [Samsung Medical Center, Sungkyunkwan University School of Medicine, Department of Pathology, Seoul (Korea)

    2007-12-15

    We tried to assess retrospectively thin-section CT findings of Churg-Strauss syndrome (CSS) in 25 patients and to compare these findings with clinical and histopathologic findings. Of 25 patients, 19 (76%) had parenchymal abnormalities at CT; small nodules (n = 12; 63%), ground-glass opacity (n = 10; 53%), bronchial wall thickening (n = 10; 53%), and consolidation (n = 8; 42%). Parenchymal abnormalities (n = 19) were categorizable as an airway pattern in 11 and an airspace pattern in eight. Patients with an airway pattern (n = 5) had obstructive (n = 3) or combined (n = 2) PFT results, whereas those with an airspace pattern (n = 4) had restrictive (n = 3) or obstructive (n = 1) results. Parenchymal opacities at CT corresponded histologically to areas of eosinophilic pneumonia, necrotizing granulomas, and granulomatous vasculitis; small nodules to eosinophilic bronchiolitis and peribronchiolar vasculitis; and bronchial wall thickening to airway wall eosinophil and lymphocyte infiltration. Patients with airspace pattern responded more readily to treatment than those with airway pattern. CT shows lung parenchymal abnormalities in about three-quarters of CSS patients and these abnormalities can be categorized as airspace or airway patterns. This classification helps predict PFT data, underlying histopathology, and treatment response. (orig.)

  10. MR of the pituitary in patients with Prader-Willi syndrome: size determination and imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Miller, L. [Dept. of Radiology, Winthrop University Hospital, Mineola, NY (United States); Angulo, M. [Dept. of Pediatrics, Div. of Endocrinology and Genetics, Winthrop University Hospital, Mineola, NY (United States); Price, D. [Dept. of Radiology, Winthrop University Hospital, Mineola, NY (United States); Taneja, S. [Dept. of Radiology, Winthrop University Hospital, Mineola, NY (United States)

    1996-01-01

    Prader-Willi syndrome (PWS) is an unusual genetic disorder characterized by short stature, obesity, hypogonadism, hypotonia, cognitive impairment, and dysmorphic facies. There is an interstitial deletion of the proximal long arm of chromosome 15 in about 70% of patients. Some of these clinical features suggest a central hypothalamic/pituitary dysfunction, and recent investigations have demonstrated a marked impairment in spontaneous growth hormone (GH) secretion. We studied 15 GH-deficient PWS patients by magnetic resonance imaging (MRI) to determine whether there was a diminution in the gross morphological size of the anterior pituitary gland, the site of GH synthesis. We also set out to catalog the pertinent imaging findings in this patient population. Our results indicate that this is the first report documenting pituitary size by MRI in PWS patients. No statistically significant difference was found in the height of the anterior pituitary gland in PWS patients compared with either normal children or children with isolated GH deficiency. An interesting imaging finding is that three of 15 patients (20%) demonstrated complete absence of the posterior pituitary bright spot (PPBS), and a fourth patient demonstrated a small PPBS. These observations reflect an objective physiologic disturbance in the hypothalamus. The clinical and radiologic implications of these findings are discussed. (orig.)

  11. Comparison of colonic transit time findings between spastic pelvic floor syndrome and normal on defecogram

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Seung Kwon; Choi, Sang Hee; Chung, Il Gyu; Lim, Hyo Keun; Choo, Sung Wook; Rhee, Poong Lyul [Samsung Medical Center, Seoul (Korea, Republic of)

    1998-05-01

    The purpose of this study is to evaluate colonic transit time (CTT) in patients with spastic pelvic floor syndrome (SPFS) diagnosed by defecography and compare findings with those of patients with normal defecography. Over a recent 15-month period, 140 patients underwent both defecography and CTT test because of chronic idiopathic constipation. Of these, 54 with SPFS diagnosed by defecography and 49 controls with normal defecography were included in our study. CTT test involved the radiopaque marker method. Subjects ingested 24 markers at 9:00 Am on three consecutive days and a plain film of the abdomen was obtained on day 4. We calculated total and segmental CTT test findings in the two groups. Delayed total CTT was found in 35% of patients (19/54) with SPFS. Segmental CTT in the right, left and rectosigmoid colon was delayed in 31 % of patients (15/49) with SPFS. Segmental CTT in the right, left and rectosigmoid colon was delayed in 19 % (10/54), 44 % (24/54), and 31 % of cases (17/54), respectively. Total CTT was delayed in 31 % of patients (15/49) with normal defecography. In this group, segmental CTT in the left colon was delayed in 39 % of cases. There was no significant difference in CTT findings between the SPFS and normal groups on defecogram. (author). 18 refs., 2 tabs., 5 figs.

  12. Thrombophlebitis of the internal jugular vein (Lemierre syndrome) - Clinical and CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Bo Yeon; Yoon, Dae Young; Lim, Kyoung Ja; Seo, Young Lan; Yun, Eun Joo; Choi, Chul Soon; Bae, Sang Hoon [Dept. of Radiology, Kangdong Seong-Sim Hospital, Hallym Univ. Coll. of Medicine, Seoul (Korea, Republic of)], e-mail: evee0914@chollian.net; Kim, Hyeong Chul [Dept. of Radiology, Chuncheon Sacred Heart Hospital, Hallym Univ. Coll. of Medicine, Kangwon-do (Korea, Republic of); Kim, Eun Soo [Dept. of Radiology, Hallym Univ. Sacred Heart Hospital, Hallym Univ. Coll. of Medicine, Gyeonggi-do (Korea, Republic of); Baek, Sora [Dept. of Nuclear Medicine, Kangdong Seong-Sim Hospital, Hallym Univ. Coll. of Medicine, Seoul (Korea, Republic of)

    2013-07-15

    Background: Thrombophlebitis of the internal jugular vein (IJV) secondary to neck infection (so-called Lemierre syndrome) is a rare disease. Purpose: To evaluate the clinical and CT findings in patients with thrombophlebitis of the IJV. Material and Methods: The clinical and contrast-enhanced neck CT findings were retrospective analyzed in 10 patients (eight men, two women; mean age, 62.9{+-}8.3 years) with thrombophlebitis of the IJV. Results: Five patients (50%) had complications, including pneumonia (n = 3), neck abscess (n = 1), and thrombophlebitis of cerebral venous sinus (n = 1). All patients, except two who were lost to follow-up, had improved after antibiotics and anticoagulation therapy. Nine (90%) patients had underlying infectious processes in the neck. Contrast-enhanced neck CT of 12 IJVs (five right, three left, and two bilateral) affected by thrombophlebitis demonstrated > 5 cm in length (n = 8, 67%), ovoid shape (n = 7, 58%), complete occlusion of the lumen (n = 10, 83%), circumferential (n = 11, 92%), smooth (n = 8, 67%), and thick (=4 mm) (n = 8, 67%) rim enhancement, and adjacent soft tissue swelling (n = 11, 92%). Conclusion: Contrast-enhanced CT is useful in the diagnosis of thrombophlebitis of the IJV; characteristic CT findings of this unusual entity may be the main clue to the correct diagnosis.

  13. Histological findings in unclassified sudden infant death, including sudden infant death syndrome.

    Science.gov (United States)

    Liebrechts-Akkerman, Germaine; Bovée, Judith V M G; Wijnaendts, Liliane C D; Maes, Ann; Nikkels, Peter G J; de Krijger, Ronald R

    2013-01-01

    Our objective was to study histological variations and abnormalities in unclassified sudden infant death (USID), including sudden infant death syndrome (SIDS), in The Netherlands. Two hundred Dutch USID cases between 1984 and 2005 were identified. The histology slides and autopsy reports of 187 cases were available for systematic review, including brain autopsy in 135 cases. An explanation for the cause of death in 19 patients (10.2%) was found. Twelve patients had bronchopneumonia, 3 showed extensive aspiration, 2 had signs of a metabolic disorder, 1 had sepsis, and 1 had meningitis. Frequent nonspecific findings were congestion (66%), edema (47%), small hemorrhages (18%), and lymphoid aggregates (51%) in the lungs; congestion of the liver (23%); and asphyctic bleeding in the kidney (44%), adrenal gland (23%), and thymus (17%). Statistical associations were found for infection with starry sky macrophages in the thymus (P  =  0.004), with calcification (P  =  0.023), or with debris in the Hassal's corpuscles (P  =  0.034). In this study, in 10.2% of cases the histological findings were incompatible with SIDS or USID. Furthermore, several frequent nonspecific histological findings in the thymus that point toward an infection were found.

  14. The relation between serum vitamin D levels and clinical findings of fibromyalgia syndrome

    Directory of Open Access Journals (Sweden)

    Nurcan Kılıç Baygutalp

    2014-09-01

    Full Text Available Objective:This study was performed to identify serum 25-OH vitamin D levels and to investigate the relationship between 25-OH vitamin D and clinical findings on patients with fibromyalgia syndrome (FMS. Methods:Nineteen premenopausal women with FMS who were diagnosed according to ACR 1990 fibromyalgia diagnostic criteria and 24 premenopausal healthy women as control group were included in the study. Serum 25-OH vitamin D levels were determined in both patient and control groups. Widespread body pain, headache, fatigue, morning stiffness, sleep disorder, the number of tender points, Fibromyalgia Impact Questionnaire (FIQ scores and Beck depression scores were evaluated as clinical findings in patients with FMS. Results:Serum 25-OH vitamin D levels were significantly lower in patients with FMS than those in control group (p=0.01. There were significantly negative correlations between 25-OH vitamin D levels and widespread body pain (r=-0.731, Beck depression scores (r=-0.777, headache (r=-0.629, and sleep disorder (r=-0.767 in the FMS group (p<0.01. Conclusion: It was concluded that 25-OH vitamin D deficiency may be related to the clinical findings such as widespread body pain, depression, headache and sleep disorder in patients with FMS.

  15. Primary Sjögren's syndrome (pSS): Subjective symptoms and salivary findings

    DEFF Research Database (Denmark)

    Pedersen, A.M.; Reibel, J.; Nauntofte, Birgitte

    1999-01-01

    autoantibodies, Sjögren's syndrome, saliva flow, labial salivary gland biopsy, rating scales biopsy, rating scales......autoantibodies, Sjögren's syndrome, saliva flow, labial salivary gland biopsy, rating scales biopsy, rating scales...

  16. Imaging Findings of Central Nervous System Vasculitis Associated with Goodpasture's Syndrome: a Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jee Young; Ahn, Kook Jin; Jung, Jung Im; Jung, So Lyung; Kim, Bum Soo; Hahn, Seong Tae [College of Medicine, The Catholic University of Korea, Seoul (Korea, Republic of)

    2007-12-15

    We report a rare case of CNS vasculitis associated with Goodpasture's syndrome in a 34-year-old man, who presented with a seizure and sudden onset of right sided weakness. He also had recurrent hemoptysis of one month's duration. Goodpasture's syndrome is histologically diagnosed by intense linear deposits of IgG along the glomerular basement membrane in both renal and lung tissues. oodpasture's syndrome is a rare disease, characterized by rapidly progressive glomerulonephritis, diffuse pulmonary hemorrhage and circulating antiglomerular basement membrane antibody (anti-GBM antibody). Central nervous system (CNS) manifestations in Goodpasture's syndrome are extremely rare, with only a few cases having been reported in the literature (8 10). Therefore, we present our imaging findings of CNS vasculitis associated with Goodpasture's syndrome, together with a review of the relevant literature. In summary, CNS vasculitis associated with Goodpasture's syndrome is extremely rare. Awareness of the imaging findings, as well as the clinical significance of CNS vasculitis associated with Goodpasture's syndrome, can be helpful in making the correct diagnosis and subsequent management of this rare condition.

  17. Pathological and High Resolution CT Findings in Churg-Strauss Syndrome

    Institute of Scientific and Technical Information of China (English)

    Rui-e Feng; Wen-bing Xu; Ju-hong Shi; Artin Mahmoudi; Wen-bing Mu; Wen-jie Zheng; Yuan-jue Zhu; Hong-rui Liu

    2011-01-01

    Objective To investigate the Churg-Strauss syndrome (CSS) associated lung involvement, concentrating on clinical characteristics, pathological findings of lung involvements, response to treatment, and prognosis. Methods We retrospectively analyzed the characters of the clinical manifestations, thin-section CT and pathological findings of CSS. The study involved 16 patients. Clinical data were obtained by chart review.All patients underwent transbronchial lung biopsy (TBLB). Six of them underwent surgical lung biopsy as well. Results The patients included 7 men and 9 women, aged from 14 to 61 years (median, 47.5 years). Extrathoracic organs involved included nervous system (7/16) and skin (5/16). Respiratory symptoms included cough ( 12 / 16), exertional dyspnea (11 / 16), hemoptysis (4/16), and chest pain (3 / 16). CT findings included bilateral ground-glass opacities ( 12 / 16), bilateral patchy opacities (12 / 16), and centrilobular nodules (6/16). The pathological findings of TBLB demonstrated increased eosinophils (3/16), vasculitis (3/16), and interstitial pneumonia (16/16). The pathological findings of surgical lung biopsy of 6 cases showed necrotizing vasculitis in 4 cases, capillaries in 5, eosinophihc pneumonia in 3, granulomas in 2, and airway abnormalities in 3. All patients improved in symptoms after therapy during the study period (range, 3 to 51 months; median, 15 months). Conclusions Asthma may be present in CSS patient when there is bronchial involvement. Ground-glass opacities and consolidation seen on high-resolution CT reflect the presence of eosinophilic pneumonia, vascuhtis, and pulmonary alveolar hemorrhage. TBLB has significant hmitations for the diagnosis of CSS. Early diagnosis and therapy can result in satisfactory prognosis.

  18. Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment.

    Science.gov (United States)

    Roshan Lal, Tamanna R; Kliewer, Mark A; Lopes, Thelma; Rebsamen, Susan L; O'Connor, Julia; Grados, Marco A; Kimball, Amy; Clemens, Julia; Kline, Antonie D

    2016-06-01

    Neurobehavioral and developmental issues with a broad range of deficits are prominent features of Cornelia de Lange syndrome (CdLS), a disorder due to disruption of the cohesin protein complex. The etiologic relationship of these clinical findings to anatomic abnormalities on neuro-imaging studies has not, however, been established. Anatomic abnormalities in the brain and central nervous system specific to CdLS have been observed, including changes in the white matter, brainstem, and cerebellum. We hypothesize that location and severity of brain abnormalities correlate with clinical phenotype in CdLS, as seen in other developmental disorders. In this study, we retrospectively evaluated brain MRI studies of 15 individuals with CdLS and compared these findings to behavior at the time of the scan. Behavior was assessed using the Aberrant Behavior Checklist (ABC), a validated behavioral assessment tool with several clinical features. Ten of fifteen (67%) of CdLS patients had abnormal findings on brain MRI, including cerebral atrophy, white matter changes, cerebellar hypoplasia, and enlarged ventricles. Other findings included pituitary tumors or cysts, Chiari I malformation and gliosis. Abnormal behavioral scores in more than one behavioral area were seen in all but one patient. All 5 of the 15 (33%) patients with normal structural MRI studies had abnormal ABC scores. All normal ABC scores were noted in only one patient and this was correlated with moderately abnormal MRI changes. Although our cohort is small, our results suggest that abnormal behaviors can exist in individuals with CdLS in the setting of relatively normal structural brain findings. © 2016 Wiley Periodicals, Inc.

  19. Congenital high airway obstruction syndrome: MR/US findings, effect on management, and outcome

    Energy Technology Data Exchange (ETDEWEB)

    Mong, Andrew; Johnson, Ann M.; Kramer, Sandra S.; Jaramillo, Diego [Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Coleman, Beverly G. [Hospital of the University of Pennsylvania, Department of Radiology, Philadelphia, PA (United States); Hedrick, Holly L.; Flake, Alan; Johnson, Mark; Wilson, R.D.; Adzick, N.S. [Children' s Hospital of Philadelphia, The Center for Fetal Diagnosis and Treatment, Philadelphia, PA (United States); Kreiger, Portia [Children' s Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Philadelphia, PA (United States)

    2008-11-15

    Congenital high airway obstruction syndrome (CHAOS) is a rare disorder defined as any fetal abnormality that obstructs the larynx or trachea. Prompt airway intervention at delivery after accurate prenatal diagnosis may allow survival of this otherwise fatal condition. To identify prenatal MRI findings in CHAOS, to compare these findings with those of fetal US, to determine if imaging alters diagnosis and management decisions, and to correlate prenatal with postnatal imaging findings. Records and MRI scans of ten fetuses with CHAOS were reviewed, and the findings correlated with outside and same-day fetal US and postnatal imaging findings. Fetal lung volumes were measured on MRI scans. Large lung volumes were found in 90% of the fetuses. Increased lung signal intensity, inverted diaphragm, and a dilated, fluid-filled lower airway were identified in all. The obstruction level was identified in 90%. MRI changed screening US diagnosis in 70%, but was concordant with the tertiary care US imaging in 90%. Seven fetuses were terminated or died in utero, and three fetuses survived after ex utero intrapartum tracheostomy placement. Autopsy or bronchoscopy performed in 60% confirmed CHAOS. Postnatal chest radiographs and CT showed hyperinflation, while US and fluoroscopy showed diminished diaphragmatic motion. MRI demonstrates large lung volumes, increased lung signal intensity, inverted diaphragm, and dilated fluid-filled lower airway, and usually identifies the obstruction level. The degree of correlation between MRI and tertiary prenatal US is high, but CHAOS is frequently misdiagnosed on screening US. Correct diagnosis may enable planned airway management. Voluminous lungs and diaphragmatic abnormalities persist on postnatal imaging. (orig.)

  20. Electrodiagnostic evaluation of patients with carpal tunnel syndrome regarding the presence of subjective and physical findings.

    Science.gov (United States)

    Radovic, Diana; Lazovic, Milica; Nikolic, Dejan; Radosavljevic, Natasa; Hrkovic, Marija

    2014-03-01

    The aim of our study was to evaluate the changes of median nerve conduction velocities by electrodiagnostic procedure in carpal tunnel syndrome (CTS) patients with and without present subjective and physical findings. We have evaluated 116 patients that were diagnosis with CTS. Subjective findings: weakness, numbness and night pain were analyzed. Further physical findings were evaluated: Tinels sign, muscles hypotrophy and weakness according to muscle manual test (MMT). Duration of complaints was evaluated as well. Electroneurographic findings included: estimation of median nerve motor terminal latency (mMTL), sensory velocity (mSV) and motor velocity (mMV). Significantly longer complaints were present in patients who experienced night pain (p=0.015) and those with muscles weakness on MMT (p=0.016). Statistically significant increase for mMTL values was noticed for patients with Tinels sign (p=0.045), present muscles hypotrophy (p=0.001) and weakness on MMT (p=0.001). There is significant decrease for mMV in group with present Tinels sign (p=0.048), muscle hypotrophy (p=0.003) and weakness on MMT (p=0.002), and for mSV in group with present muscle hypotrophy (p=0.008) and group with weakness on MMT (p=0.019). Multivariate logistic regressional analysis shown that only for hypotrophy, mMTL variable presents significant independent contributor (p=0.009). For the diagnosis confirmation and treatment planning along with elecroneurography it is necessary to evaluate patients with CTS clinically, since different clinical manifestations are correlating in different degree with electroneurographic findings.

  1. Beckwith-Wiedemann syndrome and bilateral adrenal pheochromocytoma: sonography and MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Baldisserotto, Matteo; Peletti, Adriana Barcellos; Araujo, Manoel Angelo de; Pertence, Ana Paula Cardoso; Dora, Marcelo Dourado; Maciel, Elines Oliva; Gaiger, Ana Maria [Hospital da Crianca Conceicao, Departamento de Radiologia, Porto Alegre, RS (Brazil)

    2005-11-01

    Beckwith-Wiedemann syndrome is characterized by a group of clinical abnormalities, the most frequent of which are omphalocele, macroglossia, gigantism, neonatal hypoglycemia and umbilical hernia. The association of this syndrome with malignant tumors is well documented. We report a child with this syndrome associated with bilateral adrenal pheochromocytoma. (orig.)

  2. Severe Combined Immunodeficiency (SCID)

    Science.gov (United States)

    ... with facebook share with twitter share with linkedin Severe Combined Immunodeficiency (SCID) SCID is a group of rare disorders ... life-saving treatments. Why Is the Study of Severe Combined Immunodeficiency (SCID) a Priority for NIAID? SCID is a ...

  3. Comparison of MRI findings with traditional criteria in diagnosis of Pendred syndrome.

    Science.gov (United States)

    Sharghi, Sasan; Haghpanah, Vahid; Heshmat, Ramin; Fard-Esfahani, Armaghan; Hadizadeh, Homayoun; Lashkari, Anahita; Tabatabaei, Ozra; Taheri, Eghbal; Motesaddi, Massoud; Mojtahedi, Alireza; Larijani, Bagher

    2007-02-01

    Pendred syndrome, defined as the constellation of goiter, sensori-neural hearing loss, and positive perchlorate discharge test, is the most frequent cause of congenital deafness. Newly introduced diagnostic approaches to the disease are rather expensive and complicated, therefore we evaluated the value of MRI as the sole, or adjunctive diagnostic approach, and compared it with the traditional ones. Presuming the classic triad as the gold standard, we compared MRI findings in six such defined patients with six cases having goiter, hearing loss, and normal perchlorate discharge test. Our results indicated that MRI was 83.6% sensitive and 66.7% specific in patients fulfilling all three criteria (complete), while in the 'partial' group the sensitivity and specificity were 66.7% and 100% respectively. In conclusion, MRI, although impressive as an adjunctive diagnostic tool, may not replace the holistic approach, and the latter may be more convenient, cheaper, and still more accurate. However in 'partial' cases with equivocal findings, and in relatives of the patients, MRI may be a valuable diagnostic adjunct.

  4. Chronic exertional compartment syndrome of the forearm in motocross racers: findings on MRI

    Energy Technology Data Exchange (ETDEWEB)

    Gielen, Jan Louis [Antwerp University Hospital, Department of Radiology, Antwerp (Belgium); Antwerp University Hospital, Multidisciplinary Department of Sports Medicine, Antwerp (Belgium); Peersman, Benjamin; Dyck, Pieter van; Vanhoenacker, Filip [Antwerp University Hospital, Department of Radiology, Antwerp (Belgium); Peersman, Geert [ZNA, Department of Orthopaedic Surgery, Antwerp (Belgium); Roelant, Ella [Antwerp University Hospital, Department of Scientific Coordination, Antwerp (Belgium); Roeykens, Johan [Antwerp University Hospital, Multidisciplinary Department of Sports Medicine, Antwerp (Belgium)

    2009-12-15

    The purpose of this prospective study was to demonstrate the findings of MRI in motocross racers with chronic exertional compartment syndrome (CECS) of the forearm. Racers with proven CECS and without CECS and male individuals not involved in strenuous activities with the forearm were included. Signal intensity (SI) and signal-to-noise ratio (SNR) obtained before and after exercise were compared (D-SNR). Magnetic resonance imaging after exercise showed an increase in SI and SNR in the muscles on T2-WI. The SI increase was obvious in the flexor digitorum superficialis (FDS) and profundus (FDP) in all CECS patients. In addition, a minor SI and SNR increase in the extensor carpi radialis longus (ECRL) was noted. In the non-symptomatic group of motocross racers, there was only a minor increase in SI and the SNR, which was similar in the FDP and ECRL muscles. In the untrained individuals a remarkable increase in the SI and SNR of the FDS/FDP-ECRL was noted. This increased SI and SNR was not present in the majority of non-symptomatic racers. Post-exertional MRI produces significant findings in CECS of the forearm. The motocross racers without post-exertional oedema in the FDP/FDS had no CECS. (orig.)

  5. Familial dysautonomia (Riley-Day syndrome). Temporal bone findings and otolaryngological manifestations.

    Science.gov (United States)

    Tokita, N; Sekhar, H K; Sachs, M; Daly, J F

    1978-01-01

    Familial dysautonomia, or Riley-Day syndrome, is inherited in an autosomal recessive fashion and occurs almost exclusively in Jewish families. This disorder is characterized by a smooth tongue devoid of fungiform papillae and of taste buds, and is clinically associated with poor taste discrimination. An unsteady gait and dizziness on change in position are also common presenting symptoms. This study reports the histopathological findings of eight temporal bones from four patients with documented familial dysautonomia. For the control series, 13 normal temporal bones were also studied. The most striking finding in the dysautonomic patients was an extreme paucity of geniculate ganglion cells (P less than 0.001). A statistically significant reduction in the number of neurons was also found both in the superior and in the inferior divisions of the vestibular nerve (P less than 0.001). The paucity of the geniculate ganglion cells correlates well with the impairment of the taste in dysautonomic individuals, since the afferent fibers leaving taste buds of the anterior two-thirds of the tongue run via the chorda tympani and have their cell bodies in the geniculate ganglion. Furthermore, the reduction in the number of Scarpa's ganglion cells observed in the dysautonomic patients studied here could account for a poor response to caloric test, positional vertigo and an unsteady gait in this condition.

  6. Dermoscopic findings and histological correlation of the acral volar pigmented maculae in Laugier-Hunziker syndrome.

    Science.gov (United States)

    Sendagorta, Elena; Feito, Marta; Ramírez, Paloma; Gonzalez-Beato, María; Saida, Toshiaki; Pizarro, Angel

    2010-11-01

    Laugier-Hunziker syndrome (LHS) is an acquired, benign, macular hyperpigmentation of the lips and oral mucosa, often associated with pigmentation of the nails. Volar acral maculae on the palms and fingertips of patients affected by LHS are a typical feature of this rare entity. Dermoscopic examination of these maculae has been described in a previous report, in which authors found a parallel-furrow pattern. We describe two cases in which a parallel-ridge pattern (PRP) was found on the dermoscopic examination of the pigmented acral lesions. Histological examination showed increased melanin in basal keratinocytes, which was most prominent in those located at the crista intermedia profunda, that is, in the epidermal rete ridges underlying the surface ridges. In our study, dermoscopic features of the pigmented maculae found on LHS differed from those previously described. In addition, by means of this case report, the histological features of these lesions are described for the first time, showing an excellent correlation with dermoscopy. The reported cases prove that although the PRP is very specific of melanoma, it is also possible to find it in benign lesions. Therefore, we must be familiar with the differential diagnosis of PRP, and take into consideration the clinical context in which we find it. Further studies are needed to increase our knowledge on the histological and dermoscopic features of acral pigmented maculae of LHS.

  7. Chronic exertional compartment syndrome of the forearm in motocross racers: findings on MRI.

    Science.gov (United States)

    Gielen, Jan Louis; Peersman, Benjamin; Peersman, Geert; Roelant, Ella; Van Dyck, Pieter; Vanhoenacker, Filip; Roeykens, Johan

    2009-12-01

    The purpose of this prospective study was to demonstrate the findings of MRI in motocross racers with chronic exertional compartment syndrome (CECS) of the forearm. Racers with proven CECS and without CECS and male individuals not involved in strenuous activities with the forearm were included. Signal intensity (SI) and signal-to-noise ratio (SNR) obtained before and after exercise were compared (D-SNR). Magnetic resonance imaging after exercise showed an increase in SI and SNR in the muscles on T2-WI. The SI increase was obvious in the flexor digitorum superficialis (FDS) and profundus (FDP) in all CECS patients. In addition, a minor SI and SNR increase in the extensor carpi radialis longus (ECRL) was noted. In the non-symptomatic group of motocross racers, there was only a minor increase in SI and the SNR, which was similar in the FDP and ECRL muscles. In the untrained individuals a remarkable increase in the SI and SNR of the FDS/FDP-ECRL was noted. This increased SI and SNR was not present in the majority of non-symptomatic racers. Post-exertional MRI produces significant findings in CECS of the forearm. The motocross racers without post-exertional oedema in the FDP/FDS had no CECS.

  8. human immunodeficiency virus and the nervous system: an update ...

    African Journals Online (AJOL)

    drclement

    recognition in. 1981. Human immunodeficiency virus (HIV) is a retrolentivirus causing ... syndrome (AIDS) and eventual death. The origin of HIV in humans lies in its evolution from the simian ... brain barrier (BBB) or the blood CSF.

  9. Surgical evaluation of magnetic resonance imaging findings in piriformis muscle syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Pecina, Hrvoje Ivan; Boric, Igor [Clinical Hospital ' ' Sestre Milosrdnice' ' , Department of Radiology, Zagreb (Croatia); Smoljanovic, Tomislav; Pecina, Marko [University of Zagreb, Department of Orthopedic Surgery, School of Medicine, Zagreb (Croatia); Duvancic, Davor [Outpatients Clinic and Clinic for Diagnostic Procedures, Zagreb (Croatia)

    2008-11-15

    The objective of this study was to evaluate the accuracy of magnetic resonance imaging (MRI) in the diagnosis of the piriformis muscle syndrome (PMS). In ten patients, seven female and three male, with a long history of clinical symptoms of the PMS, an MRI was performed as the last preoperative diagnostic tool. All patients were imaged using 2T MR system (Elscint, Haifa, Israel). Axial and coronal spin-echo, fast spin-echo (FSE), and fat-suppressed FSE-weighted images were made through the pelvic region with 3-mm section thickness and a 0.5-mm gap to show the whole piriformis muscle and the course of sciatic nerve on its way out of the pelvis. A routine examination also included axial fast spin-echo T2, three-dimensional gradient echo. In seven cases, an MRI abnormality for the PMS was found. In two women, the MRI demonstrated a bigastric appearance of the piriformis muscle with a tendinous portion between the muscle heads and the course of the common peroneal nerve through the muscle between the tendinous portions of the muscle. In one female patient, the common peroneal nerve passed through the hypertrophied piriformis muscle. In four patients, the MRI showed a hypertrophied aspect of the piriformis muscle and an anteriorly displaced sciatic nerve. All MRI findings were confirmed surgically. In three patients, no apparent abnormalities could be observed, but after a surgical treatment, i.e., a tenotomy of the piriformis muscle and neurolysis of the sciatic nerve, all symptoms disappeared. In piriformis muscle syndrome, MRI may demonstrate signal abnormalities of the sciatic nerve as well as its relationship with the normal and abnormal piriformis muscle. (orig.)

  10. Demographics features, clinical findings and functional status in a group of subjects with cervical myofascial pain syndrome.

    Science.gov (United States)

    Sahin, Nilay; Karataş, Omer; Ozkaya, Murat; Cakmak, Ayşegül; Berker, Ender

    2008-07-01

    Subjects with myofascial pain of muscles of the neck region may present with various clinical symptoms. The aim of this study was to explore the demographics features, clinical findings and functional status in a group of patients presenting with myofascial pain of the cervical muscles. 94 cervical myofascial pain syndrome patients were recruited from the out-patient clinic. Evaluated of patient short form health survey (SF-36), pain, depression, patient demographics and physical examinations. Outcome measures; SF-36 Health Survey, visual analog scale, Beck Depression Inventory, history, physical examination. A total of 82 patients with a diagnosis of cervical myofascial syndrome were included in the study. All patients were in the young age group 37.4+/-9, and 87.8% were females. 53.1% had trigger points in the trapezius muscle with high percentage of autonomic phenomena like skin reddening, lacrimation, tinnitus and vertigo. 58.5% of the series had suffered from former cervical trauma and 40.2% also had fibromyalgia syndrome and 18.5% had benign Joint hypermobility syndrome. Younger female patients presenting with autonomic phenomena and early onset cervical injury should be examined for cervical myofascial pain syndrome and also for fibromyalgia syndrome since this study demonstrated a high percentage of fibromyalgia syndrome in these patients.

  11. Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia.

    Science.gov (United States)

    Serino, Domenico; Camassei, Francesca Diomedi; Delalande, Olivier; Marras, Carlo E; Specchio, Nicola; Vigevano, Federico; Fusco, Lucia

    2014-05-01

    Hemiconvulsion-Hemiplegia (HH) syndrome represents an uncommon consequence of prolonged unilateral clonic or hemiconvulsive status epilepticus in childhood, usually occurring during a febrile illness, followed by ipsilateral hemiplegia. The subsequent appearance of focal seizures configures the so called Hemiconvulsion-Hemiplegia-Epilepsy (HHE) syndrome. The pathogenesis of HH/HHE syndrome is still unclear. We describe the case of a 4 year-old girl with congenital adrenal hyperplasia (CAH) whom developed HH/HHE syndrome with drug resistant seizures at the age of 21 months and underwent left cerebral hemispherotomy at the age of 3 years and 6 months. Histopathological findings showed the presence of an underlying inflammatory-degenerative process. Disregulation of the inflammatory cascade has been proposed as one of the possible pathogenetic mechanisms underlying HH/HHE syndrome. To our knowledge however, this is the first report of an association with a histologically documented inflammatory process. The clinical and histopathological findings of our reported case lend support to the possible role of inflammation in the pathogenesis of HH/HHE 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. Bone Scintigraphy Findings of A Case with Maffucci's Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Mi; Lee, Jong Jin; Kim, Yu Kyeong; Lee, Jeong Won; Chung, Jin Haeng; Kim, Sang Eun [Seoul National University Bundang Hospital, Seoul (Korea, Republic of)

    2010-06-15

    Maffucci's syndrome is a sporadic rare congenital disease that is characterized by enchondromatosis and soft tissue hemangiomas. A systemic evaluation should be considered because this syndrome is related to generalized meso dermal dysplasia, which has a high likelihood of a malignant transformation. Whole-body bone scintigraphy might be helpful for detecting skeletal involvement. We present a case of Maffucci's syndrome suing bone scintigraphy to evaluate the extent of the disease.

  14. Poland's Syndrome Complicated with Breast Cancer: Mammographic, Ultrasonographic, and Computed Tomographic Findings

    Energy Technology Data Exchange (ETDEWEB)

    Ji, J.; Zhang, S.; Shao, C.; Xu, M.; Chen, S.; Lu, C.; Wang, Z.; Zhao, Z.; Fan, X.; Tu, J. (Dept. of Radiology, Sir Run Run Shaw Hospital, Medical College of Zhejiang Univ., Hangzhou City (China))

    2008-05-15

    Poland's syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral hand abnormalities. It has been reported in association with various malignancies and other developmental defects. We report here the case of a 58-year-old woman with Poland's syndrome who developed breast cancer in the ipsilateral normal breast. A review of the literature reveals that two studies of breast carcinoma associated with Poland's syndrome have been reported, but this paper is the first example of a carcinoma occurring in an otherwise normal breast associated with Poland's syndrome

  15. DNA Banking of Primary Immunodeficiency Disorders in Iran

    Directory of Open Access Journals (Sweden)

    "Anna Isaian

    2006-12-01

    Full Text Available Primary immunodeficiency disorders are a heterogeneous group of genetic disorders, with different modes of inheritance, consisting of more than 100 different types. We constructed the DNA banking of primary immunodeficiency disorders for the first time in Iran. The DNA of 31 immunodeficient patients and their families (total of 92 samples were collected, as the first step for construction of DNA banking. DNA was isolated from whole blood by salting out method. Among our patients, Common variable immunodeficiency was the most common disorder, followed by X-linked agammaglobulinemia, Ataxia-telangiectasia, Chronic granulomatous disease, Severe combined immunodeficiency, Hyper IgM syndromes, and Leukocyte adhesion defects. DNA banking is a useful method for further detection of mutation in immunodeficient patients and prenatal diagnosis for presence or absence of the disorder in the fetus which can be confirmed by molecular genetics testing.

  16. Cardiovascular findings and management in Turner syndrome: insights from a French cohort.

    Science.gov (United States)

    Donadille, Bruno; Rousseau, Alexandra; Zenaty, Delphine; Cabrol, Sylvie; Courtillot, Carine; Samara-Boustani, Dinane; Salenave, Sylvie; Monnier-Cholley, Laurence; Meuleman, Catherine; Jondeau, Guillaume; Iserin, Laurence; Duranteau, Lise; Cabanes, Laure; Bourcigaux, Nathalie; Bonnet, Damien; Bouchard, Philippe; Chanson, Philippe; Polak, Michel; Touraine, Philippe; Lebouc, Yves; Carel, Jean-Claude; Léger, Juliane; Christin-Maitre, Sophie

    2012-10-01

    Congenital cardiovascular malformations and aortic dilatation are frequent in patients with Turner syndrome (TS). The objective of this study was to investigate the cardiovascular findings and management in a large cohort of patients, including children and adults. We recruited 336 patients with TS from a network of tertiary centers. We reviewed their files, checking for cardiovascular events, cardiac valve abnormalities, and aortic diameters indexed to body surface area (BSA) from magnetic resonance imaging (n=110) or echocardiography (n=300). Informative cardiovascular data were available for only 233 patients. Vascular surgery was reported in 7.4% of the cohort. The first cause of surgery was aortic coarctation, detected in 6.9% at a median age of 9.5 (range: 0-60) years. Bicuspid aortic valve (BAV) was detected in 21% at a median age of 20 years (25th-75th percentiles: 15-30). At least one aortic diameter exceeded 32 mm in 12% of the cohort. This was detected at a median age of 19 (7-30) years. When indexed to BSA, at least one aortic diameter exceeded 20 mm/m(2) in 39% of the cohort. Our study shows that cardiovascular monitoring for TS patients is currently insufficient in France. BAV is present at birth, but often remains undiagnosed until later in life. Therefore, improved management in cardiovascular monitoring is required and a more systematic approach should be taken.

  17. Increased pain sensitivity is not associated with electrodiagnostic findings in women with carpal tunnel syndrome.

    Science.gov (United States)

    de la Llave-Rincón, Ana Isabel; Fernández-de-las-Peñas, César; Laguarta-Val, Sofia; Alonso-Blanco, Cristina; Martínez-Perez, Almudena; Arendt-Nielsen, Lars; Pareja, Juan A

    2011-01-01

    To determine the differences in widespread pressure pain and thermal hypersensitivity in women with minimal, moderate, and severe carpal tunnel syndrome (CTS) and healthy controls. A total of 72 women with CTS (19 with minimal, 18 with moderate, and 35 with severe) and 19 healthy age-matched women participated. Pressure pain thresholds were bilaterally assessed over the median, ulnar, and radial nerves, the C5 to C6 zygapophyseal joint, the carpal tunnel, and the tibialis anterior muscle. In addition, warm and cold detection thresholds and heat and cold pain thresholds were bilaterally assessed over the carpal tunnel and the thenar eminence. All outcome parameters were assessed by an assessor blinded to the participant's condition. No significant differences in pain parameters among patients with minimal, moderate, and severe CTS were found. The results showed that PPT were significantly decreased bilaterally over the median, ulnar, and radial nerve trunks, the carpal tunnel, C5 to C6 zygapophyseal joint, and the tibialis anterior muscle in patients with minimal, moderate, or severe CTS as compared with healthy controls (all, P<0.001). In addition, patients with CTS also showed lower heat pain threshold and reduced cold pain threshold compared with controls (P<0.001). No significant sensory differences between minimal, moderate, or severe CTS were found. The similar widespread pressure and thermal hypersensitivity in patients with minimal, moderate, or severe CTS and pain intensity suggests that increased pain sensitivity is not related to electrodiagnostic findings.

  18. Ultrastructural findings in lymph nodes from pigs suffering from naturally occurring postweaning multisystemic wasting syndrome.

    Science.gov (United States)

    Rodriguez-Cariño, C; Segalés, J

    2009-07-01

    The aims of this study were to evaluate ultrastructural lesions in lymph nodes from postweaning multisystemic wasting syndrome (PMWS)-affected pigs and to correlate these alterations with detection of viral-like particles (VLPs). Samples of lymph nodes were taken from 4 PMWS-affected pigs and 2 healthy animals and processed by transmission electron microscopy. Significant ultrastructural alterations were only noted in PMWS-affected pigs, mainly in histiocytes and rarely in other cell types. Histiocytes showed severe swelling and proliferation of mitochondria, and proliferation and dilation of rough endoplasmic reticulum and Golgi complex. Infected histiocytes contained large numbers of intracytoplasmic inclusion (ICI) bodies with VLPs; some histiocytes also had intranuclear inclusions (INIs). Small inclusions were surrounded by double membrane, with a granular appearance or containing paracrystalline arrays; icosahedral VLPs were 8-17 nm in diameter. Large ICIs were double-membrane bounded or not and contained VLPs usually forming paracrystalline arrays. ICIs were often found next to mitochondria with severe swelling, and also inside them. INIs were not surrounded by membranes and contained virions of 10-13 nm diameter. Lymphocyte depletion was a striking finding of lymph nodes from PMWS-affected pigs. The inclusion bodies containing VLPs referred to in the present study should be classified as viral factories, suggesting that viral replication is probably a frequent event in macrophages, in which mitochondria might play a role.

  19. FINDINGS OF CHEST RADIOGRAPH AND SPIRAL COMPUTED TOMOGRAPHY IN SWYER-JAMES SYNDROME

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Objective To evaluate the value of X-ray and spiral computed tomography (SCT) in the diagnosis of SwyerJames syndrome (SJS).Methods A total of 28 patients, 12 males and 16 females, were studied retrospectively. Ages ranged from 11 to 57 years, the mean age was 32 years. All patients underwent inspiratory chest X-ray films, 5 with expiratory chest films and 1 with bronchogram. Furthermore, inspiratory and expiratory SCT scans were performed. The SCT findings were analyzed and compared with X-ray films.Results SCT demonstrated 56 lobes with hyperlucency and diminished vascularity. The size of 51 lobes were smaller and 5 were normal. X-ray films showed that hyperlucency was only in 29 lobes, in which 19 lobes were smallsized and the other 10 lobes normal. There were 56 lobes with air-trapping on expiratory SCT scans, but only 5 lobes with air-trapping on expiratory X-ray films. Bronchogram in 1 case demonstrated bronchiectasis and bronchiolitis obliterans. SCT showed 24 patients with bronchiectasis, 9 patients with tuberculosis, 10 patients with bronchiolitis, and 2 with segmental collapse. Conclusion SCT scan is superior to chest radiography in the diagnosis and differential diagnosis of SJS.

  20. Microbiological, pathological and histological findings in four Danish pig herds affected by a new neonatal diarrhoea syndrome

    DEFF Research Database (Denmark)

    Kongsted, Hanne; Jonach, Beata Renata; Angen, Øystein

    2013-01-01

    macroscopic and microscopic findings associated with these outbreaks and if possible propose a preliminary piglet-level case-definition on syndrome New Neonatal Porcine Diarrhoea syndrome (NNPDS). Results Four well-managed herds experiencing neonatal diarrhoea with no previously established laboratory......Background Neonatal diarrhoea is a frequent clinical condition in commercial swine herds, previously regarded to be uncomplicated to treat. However, since 2008 it seems that a new neonatal diarrhoeic syndrome unresponsive to antibiotics and common management practices has emerged. Routine...... neonatal porcine diarrhoea was present in the investigated herds, since no known pathogen(s) or management factors could explain the diarrhoeal outbreaks. Based on the findings in the four herds the following case-definition of NNPDS was suggested: Non-haemorrhagic diarrhoea during the first week of life...

  1. Interstitial lung disease in anti-synthetase syndrome: Initial and follow-up CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Debray, Marie-Pierre, E-mail: marie-pierre.debray@bch.aphp.fr [AP-HP, Bichat-Claude Bernard Hospital, Department of Radiology, 46, rue Henri Huchard, 75877 Paris Cedex 18 (France); Borie, Raphael, E-mail: raphael.borie@bch.aphp.fr [AP-HP, Bichat-Claude Bernard Hospital, Department of Pneumology A and Centre de Compétence Maladies Pulmonaires rares, DHU Fire 46, rue Henri Huchard, 75877 Paris Cedex 18 (France); Inserm, U1152, Paris (France); Revel, Marie-Pierre, E-mail: marie-pierre.revel@htd.aphp.fr [AP-HP, Cochin Hospital, Department of Radiology, 27, Rue du Fg Saint Jacques, 75679 Paris Cedex 14 (France); Naccache, Jean-Marc, E-mail: jean-marc.naccache@tnn.aphp.fr [AP-HP, Avicenne Hospital, Department of Pneumology and Centre de Compétence Maladies Pulmonaires rares, Bobigny (France); AP-HP, Tenon Hospital, Department of Pneumology and Centre de Compétence Maladies Pulmonaires rares, 4, rue de la Chine, 75020 Paris (France); Khalil, Antoine, E-mail: antoine.khalil@tnn.aphp.fr [AP-HP, Tenon Hospital, Department of Radiology, 4, rue de la Chine, 75020 Paris (France); Toper, Cécile, E-mail: cecile.toper@gmail.com [AP-HP, Tenon Hospital, Department of Pneumology and Centre de Compétence Maladies Pulmonaires rares, 4, rue de la Chine, 75020 Paris (France); Israel-Biet, Dominique, E-mail: dominique.israel-biet@egp.aphp.fr [Université Paris Descartes and AP-HP, Department of Pneumology, Georges Pompidou European Hospital, 20, rue Leblanc, 75015 Paris (France); and others

    2015-03-15

    Purpose: To describe the initial and follow-up CT features of interstitial lung disease associated with anti-synthetase syndrome (AS-ILD). Materials and methods: Two independent thoracic radiologists retrospectively analysed thin-section CT images obtained at diagnosis of AS-ILD in 33 patients (17 positive for anti-Jo1, 13 for anti-PL12, and three for anti-PL7 antibodies). They evaluated the pattern, distribution and extent of the CT abnormalities. They also evaluated the change in findings during follow-up (median 27 months; range 13–167 months) in 26 patients. Results: At diagnosis, ground-glass opacities (100%), reticulations (87%) and traction bronchiectasis (76%) were the most common CT findings. Consolidations were present in 45% of patients. A non-specific interstitial pneumonia (NSIP), organizing pneumonia (OP) or mixed NSIP-OP CT pattern were observed in 15 out of 33 (45%), seven out of 33 (21%) and eight out of 33 (24%) patients, respectively, whereas the CT pattern was indeterminate in three patients. During follow-up, consolidations decreased or disappeared in 11 out of 12 patients (92%), among which seven within the first 6 months, but honeycombing progressed or appeared in ten out of 26 patients (38%) and overall disease extent increased in nine out of 26 patients (35%). Conclusion: CT features at diagnosis of AS-ILD mainly suggest NSIP and OP, isolated or in combination. Consolidations decrease or disappear in most cases but the disease may progress to fibrosis in more than one third of patients.

  2. Anterior interosseous nerve syndrome diagnosis and intraoperative findings: A case report

    Directory of Open Access Journals (Sweden)

    Abdulla Aljawder

    2016-01-01

    Conclusion: Clinical suspicion should arise in the presence of isolated paralysis of the AIN-supplied muscles. MRI and electrodiagnostic studies will confirm the diagnosis and identify the etiology. The optimal treatment of AIN syndrome has not been established. We recommend surgical intervention in confirmed AIN syndrome from compression neuropathy, refractive to conservative therapy.

  3. Clinical, Microscopic and Ultrastructural Findings in a Case of Short Anagen Syndrome.

    Science.gov (United States)

    Martin, Jose M; Montesinos, Encarnacion; Sanchez, Sara; Torres, Catalina; Ramon, Dolores

    2017-07-01

    Short anagen syndrome is an uncommon and recently described disease characterized by many telogen hairs and short maximum hair length. We report here the case of a 3-year-old girl whose short, sparse, fine hair since birth was consistent with short anagen syndrome. X-ray microanalysis demonstrated normal composition of the main bioelements of her hairs. © 2017 Wiley Periodicals, Inc.

  4. Primary Sjögren's syndrome: Salivary gland function and clinical oral findings

    DEFF Research Database (Denmark)

    Pedersen, A.M.; Reibel, J.; Nordgarden, H.;

    1999-01-01

    primary Sjögren's syndrome, saliva, sodium, potassium, statherin, proline-rich proteins, salivary gland biopsy, dental and periodontal status, oral mucosa......primary Sjögren's syndrome, saliva, sodium, potassium, statherin, proline-rich proteins, salivary gland biopsy, dental and periodontal status, oral mucosa...

  5. CT findings of the temporal bone in CHARGE syndrome : aspects of importance in cochlear implant surgery

    NARCIS (Netherlands)

    Vesseur, A. C.; Verbist, B. M.; Westerlaan, H. E.; Kloostra, F. J. J.; Admiraal, R. J. C.; van Ravenswaaij-Arts, C. M. A.; Free, R. H.; Mylanus, E. A. M.

    2016-01-01

    To provide an overview of anomalies of the temporal bone in CHARGE syndrome relevant to cochlear implantation (CI), anatomical structures of the temporal bone and the respective genotypes were analysed. In this retrospective study, 42 CTs of the temporal bone of 42 patients with CHARGE syndrome were

  6. Primary Sjögren's syndrome: Salivary gland function and clinical oral findings

    DEFF Research Database (Denmark)

    Pedersen, A.M.; Reibel, J.; Nordgarden, H.

    1999-01-01

    primary Sjögren's syndrome, saliva, sodium, potassium, statherin, proline-rich proteins, salivary gland biopsy, dental and periodontal status, oral mucosa......primary Sjögren's syndrome, saliva, sodium, potassium, statherin, proline-rich proteins, salivary gland biopsy, dental and periodontal status, oral mucosa...

  7. Reliability and validity of questionnaire of acquired immunodeficiency syndrome prevention for senior high school students%高中生预防艾滋病量表的信度和效度分析

    Institute of Scientific and Technical Information of China (English)

    蔡泳; 施榕; 黄红; 钱序

    2011-01-01

    目的 考察高中生预防艾滋病量表的可行性和有效性.方法 设计拟定基于健康促进理论的高中生预防艾滋病量表.采用整群随机抽样的方法,对上海市、福建省三明市和广西壮族自治区北海市的12 313名高一学生进行预防艾滋病量表测量,并对其中251名学生进行重复测量,考评其信度和效度.结果 高中生预防艾滋病量表的内在信度Cronbacb's α系数为0.608-0.916;重测信度考评中Sperman相关系数均>0.7;因子分析显示结构效度较好,15个公因子(包括知识、态度、信念和行为)能解释问卷全部内容的58.381%.结论 该研究制定的高中生预防艾滋病量表具有良好的信度和效度,可用于相关研究.%Objective To evaluate the reliability and validity of questionnaire of acquired immunodeficiency syndrome prevention for senior high school students. Methods The questionnaire of acquired immunodeficiency syndrome prevention for senior high school students was designed on the basis of health promotion theory. A total of 12 313 students of grade 1 in senior high schools were selected by cluster random sampling from Shanghai, Sanming of Fujian Province and Beihai of Guangxi Zhuang Autonomous Region, and survey with the questionnaire was conducted. Two hundred and fifty-one students were retested, and the reliability and validity of the questionnaire were examined. Results Cronbach's a coefficient of the reliability of the questionnaire ranged from O.608 to 0. 916. Spearman correlation coefficients were all higher than 0. 7 in the evaluation of test-retest reliability. The construct validity of the questionnaire was good by factor analysis, and 15 common factors including knowledge, attitude, belief and practice could explain 58. 381% of the questionnaire. Conclusion The questionnaire of acquired immunodeficiency syndrome prevention for senior high school students designed in this study has favorable reliability and validity, and

  8. Sexually Transmitted Infections Among Hospitalized Patients With Human Immunodeficiency Virus Infection and Acquired Immune Deficiency Syndrome (HIV/AIDS) in Zahedan, Southeastern Iran.

    Science.gov (United States)

    Hashemi-Shahri, Seyed Mohammad; Sharifi-Mood, Batool; Kouhpayeh, Hamid-Reza; Moazen, Javad; Farrokhian, Mohsen; Salehi, Masoud

    2016-09-01

    Studies show that nearly 40 million people are living with human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) around the world and since the beginning of the epidemic, about 35 million have died from AIDS. Heterosexual intercourse is the most common route for transmission of HIV infection (85%). People with a sexually transmitted infection (STI), such as syphilis, genital herpes, chancroid, or bacterial vaginosis, are more likely to obtain HIV infection during sex. On the other hand, a patient with HIV can acquire other infections such as hepatitis C virus (HCV) and hepatitis B virus (HBV) and also STIs. Co-infections and co-morbidities can affect the treatment route of patients with HIV/AIDs. Sometimes, physicians should treat these infections before treating the HIV infection. Therefore, it is important to identify co-infection or comorbidity in patients with HIV/AIDS. This study was conducted in order to understand the prevalence of HIV/AIDS/STI co-infection. In this cross-sectional study, we evaluated all HIV/AIDS patients who were admitted to the infectious wards of Boo-Ali hospital (Southeastern Iran) between March 2000 and January 2015. All HIV/AIDS patients were studied for sexually transmitted infections (STI) such as syphilis, gonorrhea, hepatitis B virus (HBV) and genital herpes. A questionnaire including data on age, sex, job, history of vaccination against HBV, hepatitis B surface antigen (HBsAg), hepatitis B core antibody (anti-HBc), hepatitis B surface antigen (anti-HBs), HCV-Ab, venereal disease research laboratory (VDRL) test, fluorescent treponemal antibody absorption (FTA-Abs) test, and urine culture was designed. Data was analyzed by the Chi square test and P values of VDRL. The FTA-Abs was positive for all patients who were positive for VDRL. Gonorrhea was found in seven patients (17%) and three cases had genital herpes in clinical examinations. All patients who had positive test results for these STIs

  9. The Ultrasonographic Findings of Trigger Points of Myofascial Pain Syndrome in a Rabbit Model

    Energy Technology Data Exchange (ETDEWEB)

    Moon, Kyung Mi; Park, Seog Hee [Catholic University of Korea, Kangnam St. Mary' s Hospital, Seoul (Korea, Republic of); Lee, Sang Heon; Kim, Joo Hyun; Kim, Han Kyum [Korea University College of Medicine, Seoul (Korea, Republic of)

    2005-03-15

    Myofascial pain syndrome (MPS) is a common cause of musculoskeletal pain. Myofascial trigger points (MTrPs) have been repeatedly described by numerous authors. However, there have been few studies in which their existence and behavior was supported and their location confirmed. The purpose of this study was to determine whether diagnostic ultrasonography is an objective diagnostic tool which is able to significantly identify or detect the soft tissue changes in the region of clinically identified active MTrPs by using a rabbit experimental model. Ten MPS model rabbits were used in this study. We made an MPS animal model by causing the rabbits to overuse one leg for 3 weeks by cutting the contralateral L4 spinal nerve root. We compared the ultrasonographic findings of the taut band at pre-OP with those at post-OP during the consecutive three week period. To find the taut bands of the muscle, after skin exposure, the muscles were gently rubbed or pinched with the thumb and index finger on the two opposing surfaces of the muscle across the direction of the fibers. Then, the muscle was held in the same way, but with a 5-8 MHz stick probe being used in place of the thumb. After the palpation of various muscles, we selected the hardest and largest myofascial trigger nodule, in order to observe the ultrasonographic and power Doppler findings of the MPS. The size, shape, echogenecity and vascularity of the MTrPs were observed. The analysis of the results of the ultrasonography revealed that all MTrPs have a hyperechoic area. The mean thickness of the hyperechoic lesion in the biceps was 0.96{+-}0.14 cm in the MPS site (at pre-OP?), and 0.49{+-}0.12 cm at post-OP 3weeks (p < 0.01). The hyperechoic lesions in all of the studied biceps femoris of the rabbits were observed by high resolution ultrasonography. No definitively decreased vascularity was observed within the hyperechoic area by power Doppler imaging. Until now, there has been no objective method for the diagnosis of

  10. Síndrome da imunodeficiência adquirida: descrição anátomo-patológica de dois casos de necropsia Acquired immunodeficiency syndrome: pathologic description of two autopsy cases

    Directory of Open Access Journals (Sweden)

    Vera L. C. Delmonte

    1984-08-01

    Full Text Available Os Autores apresentam dois casos de Síndrome de Imunodeficiência Adquirida com ênfase aos achados de necropsia. A criptococose generalizada de padrão miliar, infreqüente, e a pneumocistose foram infecções oportunísticas de curso fatal pela destruição parenquimatosa de órgãos vitais que acarretaram. É destacado o papel etiopatogênico do citomegalovírus, pela concomitância de infecção em ambos os casos e associação aos órgãos mais afetados. Extensa necrose de supra-renal foi constatada, possivelmente secundária à destruição celular viral pelo CMV.Two autopsy cases of acquired immunodeficiency disease syndrome are reported. One case showed widespread miliar cryptococcosis, with scarce inflammatory response. The other developed respiratory failure due to pulmonary infection by P. carinii. In both cases we could observe generalized cytomegalic infection, with striking adrenal involvement. Special emphasis is given to the pathologic changes and the possible etiopathogenic role of cytomegaloviroses in the acquired immunodeficiency cases.

  11. Prevalence of human papillomavirus infection, distribution of viral types and risk factors in cervical samples from human immunodeficiency virus-positive women attending three human immunodeficiency virus-acquired immune deficiency syndrome reference centres in northeastern Brazil

    Directory of Open Access Journals (Sweden)

    Albert Eduardo Silva Martins

    2014-09-01

    Full Text Available Human immunodeficiency virus (HIV-positive patients have a greater prevalence of coinfection with human papillomavirus (HPV is of high oncogenic risk. Indeed, the presence of the virus favours intraepithelial squamous cell lesion progression and may induce cancer. The aim of this study was to evaluate the prevalence of HPV infection, distribution of HPV types and risk factors among HIV-positive patients. Cervical samples from 450 HIV-positive patients were analysed with regard to oncotic cytology, colposcopy and HPV presence and type by means of polymerase chain reaction and sequencing. The results were analysed by comparing demographic data and data relating to HPV and HIV infection. The prevalence of HPV was 47.5%. Among the HPV-positive samples, 59% included viral types of high oncogenic risk. Multivariate analysis showed an association between HPV infection and the presence of cytological alterations (p = 0.003, age greater than or equal to 35 years (p = 0.002, number of partners greater than three (p = 0.002, CD4+ lymphocyte count < 200/mm3 (p = 0.041 and alcohol abuse (p = 0.004. Although high-risk HPV was present in the majority of the lesions studied, the low frequency of HPV 16 (3.3%, low occurrence of cervical lesions and preserved immunological state in most of the HIV-positive patients were factors that may explain the low occurrence of precancerous cervical lesions in this population.

  12. Prevalence of human papillomavirus infection, distribution of viral types and risk factors in cervical samples from human immunodeficiency virus-positive women attending three human immunodeficiency virus-acquired immune deficiency syndrome reference centres in northeastern Brazil.

    Science.gov (United States)

    Martins, Albert Eduardo Silva; Lucena-Silva, Norma; Garcia, Renan Gomes; Welkovic, Stefan; Barboza, Aureliana; Menezes, Maria Luiza Bezerra; Maruza, Magda; Tenório, Terezinha; Ximenes, Ricardo A A

    2014-09-01

    Human immunodeficiency virus (HIV)-positive patients have a greater prevalence of coinfection with human papillomavirus (HPV) is of high oncogenic risk. Indeed, the presence of the virus favours intraepithelial squamous cell lesion progression and may induce cancer. The aim of this study was to evaluate the prevalence of HPV infection, distribution of HPV types and risk factors among HIV-positive patients. Cervical samples from 450 HIV-positive patients were analysed with regard to oncotic cytology, colposcopy and HPV presence and type by means of polymerase chain reaction and sequencing. The results were analysed by comparing demographic data and data relating to HPV and HIV infection. The prevalence of HPV was 47.5%. Among the HPV-positive samples, 59% included viral types of high oncogenic risk. Multivariate analysis showed an association between HPV infection and the presence of cytological alterations (p = 0.003), age greater than or equal to 35 years (p = 0.002), number of partners greater than three (p = 0.002), CD4⁺ lymphocyte count < 200/mm³ (p = 0.041) and alcohol abuse (p = 0.004). Although high-risk HPV was present in the majority of the lesions studied, the low frequency of HPV 16 (3.3%), low occurrence of cervical lesions and preserved immunological state in most of the HIV-positive patients were factors that may explain the low occurrence of precancerous cervical lesions in this population.

  13. Hallervorden Spatz syndrome: magnetic resonance findings. Case report; Sindrome de Hallervorden Spatz: achados na ressonancia magnetica. Relato de caso

    Energy Technology Data Exchange (ETDEWEB)

    Farage, Luciano; Castro, Mario Augusto Padula; Macedo, Tulio Augusto Alves [Universidade Federal de Uberlandia, MG (Brazil). Hospital de Clinicas. Setor de Radiologia; Assis, Marcelo Cardoso de [Universidade Federal de Uberlandia, MG (Brazil). Faculdade de Medicina. Dept. de Cirurgia; Souza, Lincoln Pereira de; Freitas, Luiz Oliveira de [Universidade Federal de Uberlandia, MG (Brazil). Dept. de Clinica Medica

    2004-09-01

    Hallervorden-Spatz syndrome is a neuro degenerative disease, autosomic recessive with two clinical features: early and late onset. Psychiatric, pyramidal and extrapyramidal signs are present in the late subtype. We report the case of a 41-old woman with extrapyramidal signs. Magnetic resonance imaging (MRI) showed the eye-of-the-tiger sign in the medial globus pallidus. This is due to a gliosis (increased signal) and accumulation of surrounding iron (decreased signal intensity) in long T R sequences. There is a strong relationship between MRI findings and the gene mutation responsible for this disease. It makes the MRI sensible for diagnosing this syndrome. (author)

  14. Comparison of electrophysiological findings in axonal and demyelinating Guillain-Barre syndrome.

    Directory of Open Access Journals (Sweden)

    Samira Yadegari

    2014-09-01

    Full Text Available Incidence and predominant subtype of Guillain-Barre syndrome (GBS differs geographically. Electrophysiology has an important role in early diagnosis and prediction of prognosis. This study is conducted to determine the frequent subtype of GBS in a large group of patients in Iran and compare nerve conduction studies in axonal and demyelinating forms of GBS.We retrospectively evaluated the medical records and electrodiagnostic study (EDS of 121 GBS patients who were managed in our hospital during 11 years. After regarding the exclusion criteria, patients classified as three groups: acute inflammatory demyelinating polyneuropathy (AIDP, acute motor axonal neuropathy (AMAN, and acute motor sensory axonal neuropathy (AMSAN. The most frequent subtype and then electrophysiological characteristic based on the time of EDS and their cerebrospinal fluid (CSF profile were assessed.Among 70 patients finally included in the study, 67% were men. About 63%, 23%, and 14% had AIDP, AMAN, and AMSAN, respectively. AIDP patients represented a wider range of ages compared with other groups. Higher levels of CSF protein, abnormal late responses and sural sparing were more frequent in AIDP subtype. Five AMSAN patients also revealed sural sparing. Conduction block (CB was observed in one AMAN patient. Prolonged F-wave latency was observed only in AIDP cases. CB and inexcitable sensory nerves were more frequent after 2 weeks, but reduced F-wave persistency was more prominent in the early phase.AIDP was the most frequent subtype. Although the electrophysiology and CSF are important diagnostic tools, classification should not be made based on a distinct finding.

  15. Comparison of electrophysiological findings in axonal and demyelinating Guillain-Barre syndrome

    Science.gov (United States)

    Yadegari, Samira; Nafissi, Shahriar; Kazemi, Neda

    2014-01-01

    Background: Incidence and predominant subtype of Guillain-Barre syndrome (GBS) differs geographically. Electrophysiology has an important role in early diagnosis and prediction of prognosis. This study is conducted to determine the frequent subtype of GBS in a large group of patients in Iran and compare nerve conduction studies in axonal and demyelinating forms of GBS. Methods: We retrospectively evaluated the medical records and electrodiagnostic study (EDS) of 121 GBS patients who were managed in our hospital during 11 years. After regarding the exclusion criteria, patients classified as three groups: acute inflammatory demyelinating polyneuropathy (AIDP), acute motor axonal neuropathy (AMAN), and acute motor sensory axonal neuropathy (AMSAN). The most frequent subtype and then electrophysiological characteristic based on the time of EDS and their cerebrospinal fluid (CSF) profile were assessed. Results: Among 70 patients finally included in the study, 67% were men. About 63%, 23%, and 14% had AIDP, AMAN, and AMSAN, respectively. AIDP patients represented a wider range of ages compared with other groups. Higher levels of CSF protein, abnormal late responses and sural sparing were more frequent in AIDP subtype. Five AMSAN patients also revealed sural sparing. Conduction block (CB) was observed in one AMAN patient. Prolonged F-wave latency was observed only in AIDP cases. CB and inexcitable sensory nerves were more frequent after 2 weeks, but reduced F-wave persistency was more prominent in the early phase. Conclusion: AIDP was the most frequent subtype. Although the electrophysiology and CSF are important diagnostic tools, classification should not be made based on a distinct finding. PMID:25422732

  16. Hemolytic uremic syndrome in children:some predictive findings on the disease outcome

    Institute of Scientific and Technical Information of China (English)

    Banihashemi Kambiz; Naeeni KMohammad; Yasseri Mehdi; Ghasemi Saeed; Abutalebi Roba-beh; Pourkhani Maryam

    2008-01-01

    Objective:To decrease or delay the major un-wanted clinical consequences to improve the quality of life in the involved patients.Methods:A retrospective case series study has been made on the forty five pediatric pa-tients admitted to nephrology department of Ali-Asghar Hospital during a period of nearly 10 years.The pa-tients have been divided into two groups of good and poor prognoses according to their clinical outcomes.The routine laboratory records and clinical manifestations extracted and statistically analyzed as independent varia-bles both by univariate and multivariate methods.Results:Forty three patients have been managed successful-ly with only two deaths occurred.According to clinical findings,nineteen patients were classified as poor prog-nosis and the rest were categorized as good prognosis.Multivariate statistical analyses showed that lesser age at the time of admission (age 15 000,P<0.226)were well-interrelated to ominous clinical consequences like convulsion,coma and peritonitis and statistically different between the two groups of patients.Conclusion:Despite the importance of predictive var-iables in the course of Hemolytic uremic syndrome(HUS)in children and their critical influence on the clinical outcome,many aspects of these parameters have been remained to be elucidated comprehensively.Our study showed that simultaneous low age of child at the time of admission with simultaneous high WBC count will re-sult in the poorer prognoses of the patients.This may warn the clinicians to provide more supportive cares for this group of patients.

  17. Imaging and clinical findings in large endolymphatic duct and sac syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Koesling, Sabrina [University of Halle, Department of Radiology, E-Grube-Street 40, D-06097 Halle (Germany)]. E-mail: sabrina.koesling@medizin.uni-halle.de; Rasinski, Christine [University of Halle, Department of Otorhinolaryngology (Germany); Amaya, Beatrice [University of Halle, Department of Radiology, E-Grube-Street 40, D-06097 Halle (Germany)

    2006-01-15

    Objective: Large endolymphatic duct and sac syndrome (LEDS) is known as the most common kind of inner ear malformations, which is radiologically detectable. Nevertheless, nowadays many questions are not fully cleared and LEDS is relatively unknown among general radiologists. The aim of this study was to evaluate the incidence of LEDS in the own patient population and to present our experiences regarding imaging findings, clinical presentation and follow up. Materials and methods: Based on a complete recording of all patients, sent from ENT department to radiology, we identified all radiological diagnosed cases of inner ear malformations including LEDS and all patients in whom an inner ear malformation was clinically suspected. The retrospective study included clinical records, HR-CT and MRI performed between 1994 and 2002. Results: Among 169 patients (338 ear), 17 of patients (median age: 12 years) and 28 ears, respectively, had enlarged endolymphatic structures. In 10 patients - 6% - (15 ears), no other abnormalities were detected, called isolated LEDS, seven patients showed additional inner ear abnormalities. One patient showed a labyrinthine hemorrhage after sudden hearing loss. Audiometric data revealed sensorineural hearing loss in 22 ears, deafness in 5 ears and normal hearing in 1 case of 28 ears. In 10 (67%) of 15 ears with isolated LEDS, the hearing loss was downward-fluctuating progressive. Twelve patients (eight with isolated LEDS) had partly repeated sudden hearing losses. A trigger for worsening of hearing was found in five patients. A correlation between the severity of morphological changes on imaging and the degree of hearing disturbances could not be detected. Only four young patients underwent a radiological examination within the first or second year after onset of hearing loss. Three patients received a cochlear implant. Conclusions: LEDS might be the cause of progressive hearing loss and repeated acute hearing losses in children and young

  18. Preliminary clinical findings on NEUMUNE as a potential treatment for acute radiation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Stickney, Dwight R; Groothuis, Jessie R; Ahlem, Clarence; Kennedy, Mike; Miller, Barry S; Onizuka-Handa, Nanette; Schlangen, Karen M; Destiche, Daniel; Reading, Chris; Garsd, Armando; Frincke, James M [Harbor Biosciences, 9171 Towne Centre Drive, Suite 180