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Sample records for werner syndrome

  1. Soft-tissue mineralization in Werner syndrome

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    Leone, Antonio; Costantini, Alessandro Maria; Brigida, Raffaela; Antoniol, Onorina Monica; Bonomo, Lorenzo [Universita Cattolica School of Medicine, Department of Radiology, Rome (Italy); Antonelli-Incalzi, Raffaele [Universita Cattolica School of Medicine, Department of Geriatrics, Rome (Italy)

    2005-01-01

    Werner syndrome is a rare autosomal recessive disorder characterized by clinical signs of premature aging, short stature, scleroderma-like skin changes, endocrine abnormalities, cataracts, and an increased incidence of malignancies. We report on a 48-year-old woman with Werner syndrome associated with intracranial meningiomas who had extensive musculoskeletal manifestations including osteoporosis of the extremities, extensive tendinopathy about the ankles, osteomyelitis of the phalanges of the first left toe, abundant soft-tissue calcification, and two dense ossified soft-tissue masses, with cortical bone and trabeculae arising from the posterosuperior aspect of the calcanei and extending into Kager fat pads. A review of previous descriptions of the radiological abnormalities of Werner syndrome indicates that the presence of soft-tissue calcifications has either not been noted or been mentioned only briefly. Moreover, there is no mention of bony masses associated with Werner syndrome in the world literature, and this would appear to be the first report of this kind. (orig.)

  2. Immortalization of Werner syndrome and progeria fibroblasts

    International Nuclear Information System (INIS)

    Saito, H.; Moses, R.E.

    1991-01-01

    Human fibroblast cells from two different progeroid syndromes, Werner syndrome (WS) and progeria, were established as immortalized cell lines by transfection with plasmid DNA containing the SV40 early region. The lineage of each immortalized cell line was confirmed by VNTR analysis. Each of the immortalized cell lines maintained its original phenotype of slow growth. DNA repair ability of these cells was also studied by measuring sensitivity to killing by uv or the DNA-damaging drugs methyl methansulfonate, bleomycin, and cis-dichlorodiamine platinum. The results showed that both WS and progeria cells have normal sensitivity to these agents

  3. WERNER SYNDROME: A NEW CASE REPORT

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    Faida Ajili

    2013-10-01

    Full Text Available “Werner’s syndrome” or premature aging syndrome is a rare autosomal recessive genetic disease. It is responsible of several complications related to age, including atherosclerosis and association with cancer. We report the case of a 36 year-old-patient, admitted to department of Internal Medicine of the military hospital of Tunis for suspicion of systemic sclerosis. The patient had all the major signs of Werner syndrome (bilateral cataract, sclerotic skin, “bird face”, baldness, small size, parental consanguinity and 4 minor signs (type 2 diabetes, hypogonadism, squeaky voice, and flat feet. She has also a brother with the same morphotype died at the age of 32 by a myocardial infarction. The current follow-up time is 9 years..

  4. Roles of Werner syndrome protein in protection of genome integrity

    DEFF Research Database (Denmark)

    Rossi, Marie L; Ghosh, Avik K; Bohr, Vilhelm A

    2010-01-01

    Werner syndrome protein (WRN) is one of a family of five human RecQ helicases implicated in the maintenance of genome stability. The conserved RecQ family also includes RecQ1, Bloom syndrome protein (BLM), RecQ4, and RecQ5 in humans, as well as Sgs1 in Saccharomyces cerevisiae, Rqh1...... in Schizosaccharomyces pombe, and homologs in Caenorhabditis elegans, Xenopus laevis, and Drosophila melanogaster. Defects in three of the RecQ helicases, RecQ4, BLM, and WRN, cause human pathologies linked with cancer predisposition and premature aging. Mutations in the WRN gene are the causative factor of Werner...

  5. A patient with Werner syndrome and adiponectin gene mutation.

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    Hashimoto, Naotake; Hatanaka, Sachiko; Yokote, Koutaro; Kurosawa, Hiroko; Yoshida, Tomohiko; Iwai, Rie; Takahashi, Hidenori; Yoshida, Katsuya; Horie, Atsuya; Sakurai, Kenichi; Yagui, Kazuo; Saito, Yasushi; Yoshida, Shouji

    2007-01-01

    Werner syndrome is a premature aging disease characterized by genomic instability and increased cancer risk. Here, we report a 45-year-old diabetic man as the first Werner syndrome patient found to have an adiponectin gene mutation. Showing graying and loss of hair, skin atrophy, and juvenile cataract, he was diagnosed with Werner syndrome type 4 by molecular analysis. His serum adiponectin concentration was low. In the globular domain of the adiponectin gene, I164T in exon 3 was detected. When we examined effects of pioglitazone (15 mg/day) on serum adiponectin multimer and monomer concentrations using selective assays, the patient's relative percentage increased in adiponectin concentration was almost same as that in the 18 diabetic patients without an adiponectin mutation, but the absolute adiponectin concentration was half of those seen in diabetic patients treated with the same pioglitazone dose who had no adiponectin mutation. The response suggested that pioglitazone treatment might help to prevent future Werner syndrome-related acceleration of atherosclerosis. Present and further clinical relevant to atherosclerosis in this patient should be imformative concerning the pathogenesis and treatment of atherosclerosis in the presence of hypoadiponectinemia and insulin resistance.

  6. A case of Werner's syndrome associated with osteosarcoma.

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    Murata, K; Hatamochi, A; Shinkai, H; Ishikawa, Y; Kawaguchi, N; Goto, M

    1999-10-01

    We described a case of Werner's syndrome associated with osteosarcoma. A 37-year-old Japanese man was diagnosed as having Werner's syndrome by the presence of juvenile cataracts, skin sclerosis and hyperpigmentation of the feet, high-pitched voice, characteristic bird-like appearance of the face with beak-shaped nose, thinning of the entire skin and hyperkeratoses on soles, hyperlipemia, hyperuricemia, diabetes melitus, and the mutated responsible gene (WRN). He had a 3-month history of a tumor on his left forearm. Histologically, the tumor included four histological patterns; a malignant fibrous histiocytoma-like, a desmoid-like, a dermatofibrosarcoma protuberans-like, and a chondrosarcoma-like pattern. Tumoral osteoid formation was also found in the tumor. Therefore, the tumor was diagnosed as osteosarcoma.

  7. Magnetic resonance imaging diagnosis of Herlyn-Werner-Wunderlich syndrome

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    Taruna Yadav

    2017-01-01

    Full Text Available Herlyn-Werner-Wunderlich syndrome (HWW is a triad of didelphys uterus, obstructed hemivagina, and ipsilateral renal agenesis. It is a combined anomaly of Mullerian and mesonephric ducts. It usually presents in adolescent females after menarche with nonspecific symptoms of pelvic pain, dysmenorrhea, and rarely a palpable pelvic mass. We report here, a case of an 18-year-old female presenting with complaints of lower abdominal pain and dysmenorrhea where magnetic resonance imaging (MRI confirmed the diagnosis of HWW syndrome. MRI is the imaging modality of choice for diagnosis of HWW syndrome and associated complications such as endometriosis.

  8. The Relationship between Werner Syndrome and Sinonasal Malignant Melanoma: Two Sibling Cases of Werner Syndrome with Malignant Melanoma

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    Yoshinori Kadowaki

    2017-01-01

    Full Text Available Werner syndrome (WS is an autosomal recessive disease characterized by premature aging. Malignant tumors such as thyroid carcinoma and malignant melanoma occur frequently in WS patients. We describe 2 siblings with WS who suffered from sinonasal malignant melanoma (MM. Both patients initially experienced nasal obstruction and recurrent nasal bleeding and died within 2 years of the diagnosis of MM. Otolaryngologists should recognize that WS patients have a high risk for head and neck malignant disease, particularly sinonasal MM, even if they are aged below the expected age range and undergo periodic examinations. Furthermore, it is important that WS patients are aware that a prompt nasal examination is indicated if they experience continuous nasal obstruction or recurrent nasal bleeding.

  9. Stochastic simulations of normal aging and Werner's syndrome.

    KAUST Repository

    Qi, Qi

    2014-04-26

    Human cells typically consist of 23 pairs of chromosomes. Telomeres are repetitive sequences of DNA located at the ends of chromosomes. During cell replication, a number of basepairs are lost from the end of the chromosome and this shortening restricts the number of divisions that a cell can complete before it becomes senescent, or non-replicative. In this paper, we use Monte Carlo simulations to form a stochastic model of telomere shortening to investigate how telomere shortening affects normal aging. Using this model, we study various hypotheses for the way in which shortening occurs by comparing their impact on aging at the chromosome and cell levels. We consider different types of length-dependent loss and replication probabilities to describe these processes. After analyzing a simple model for a population of independent chromosomes, we simulate a population of cells in which each cell has 46 chromosomes and the shortest telomere governs the replicative potential of the cell. We generalize these simulations to Werner\\'s syndrome, a condition in which large sections of DNA are removed during cell division and, amongst other conditions, results in rapid aging. Since the mechanisms governing the loss of additional basepairs are not known, we use our model to simulate a variety of possible forms for the rate at which additional telomeres are lost per replication and several expressions for how the probability of cell division depends on telomere length. As well as the evolution of the mean telomere length, we consider the standard deviation and the shape of the distribution. We compare our results with a variety of data from the literature, covering both experimental data and previous models. We find good agreement for the evolution of telomere length when plotted against population doubling.

  10. Use of p38 MAPK Inhibitors for the Treatment of Werner Syndrome

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    Mark C. Bagley

    2010-06-01

    Full Text Available Werner syndrome provides a convincing model for aspects of the normal ageing phenotype and may provide a suitable model for therapeutic interventions designed to combat the ageing process. Cultured primary fibroblast cells from Werner syndrome patients provide a powerful model system to study the link between replicative senescence in vitro and in vivo pathophysiology. Genome instability, together with an increased pro-oxidant state, and frequent replication fork stalling, all provide plausible triggers for intracellular stress in Werner syndrome cells, and implicates p38 MAPK signaling in their shortened replicative lifespan. A number of different p38 MAPK inhibitor chemotypes have been prepared rapidly and efficiently using microwave heating techniques for biological study in Werner syndrome cells, including SB203580, VX-745, RO3201195, UR-13756 and BIRB 796, and their selectivity and potency evaluated in this cellular context. Werner syndrome fibroblasts treated with a p38 MAPK inhibitor reveal an unexpected reversal of the accelerated ageing phenotype. Thus the study of p38 inhibition and its effect upon Werner pathophysiology is likely to provide new revelations into the biological mechanisms operating in cellular senescence and human ageing in the future.

  11. Leg ulcer in Werner syndrome (adult progeria): a case report.

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    Fumo, Giuseppe; Pau, Monica; Patta, Federico; Aste, Nicola; Atzori, Laura

    2013-03-15

    Werner syndrome (WS; MIM#277700) or adult progeria, is a rare disease, associated with mutations of a single gene (RECQL2 or WRN), located on chromosome 8 (8p12). It codes a DNA-helicase, whose defects cause genomic instability. The highest incidences are reported in Japan and Sardinia (Italy). On this major island of the Mediterranean Basin, the WS cases have been observed in the northern areas. The authors describe the apparently first case reported in southern Sardinia, a 51-year-old woman, who was born in and resides in the province of Cagliari. She presented with a 9-year history of an intractable leg ulcer and other characteristic symptoms, including "bird-like" face, high-pitched voice, premature greying, short stature, abdominal obesity in contrast with thin body type, scleroderma-like legs, decreased muscle mass, diabetes, atherosclerosis, and premature menopause. A specialized genetic Institute of Research (IRCCS-IDI, Rome) confirmed the clinical diagnosis. There is no cure or specific treatment and patients must be periodically screened for an increased risk of cardiovascular and cerebrovascular disease and malignancies. Among the many findings, leg ulcers significantly affect the patient's quality of life. This problem may send the patient to the dermatologist, who finally suspects the diagnosis. Poor response to medical treatment may require aggressive repeated surgery, with poor or temporary results.

  12. Genetics and aging; the Werner syndrome as a segmental progeroid syndrome.

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    Martin, G M

    1985-01-01

    The maximum lifespan potential is a constitutional feature of speciation and must be subject to polygenic controls acting both in the domain of development and in the domain of the maintenance of macromolecular integrity. The enormous genetic heterogeneity that characterizes our own species, the complexities of numerous nature-nurture interactions, and the quantitative and qualitative variations of the senescent phenotype that are observed suggest that precise patterns of aging in each of us may be unique. Patterns of aging may also differ sharply among species (for example, semelparous vs. multiparous mammals). Some potential common denominators, however, allow one to identify progeroid syndromes in man that could lead to the elucidation of important pathways of gene action. (The suffix "-oid" means "like"; it does not mean identity.) Unimodal progeroid syndromes (eg., familial dementia of the Alzheimer type, an autosomal dominant) can help us understand the pathogenesis of a particular aspect of the senescent phenotype of man. Segmental progeroid syndromes (eg. the Werner syndrome, an autosomal recessive) may be relevant to multiple aspects of the senescent phenotype. Some results of research on the Werner syndrome may be interpreted as support for "peripheral" as opposed to "central" theories of aging; they are consistent with the view that gene action in the domain of development (adolescence, in this instance) can set the stage for patterns of aging in the adult; they point to the importance of mesenchymal cell populations in the pathogenesis of age-related disorders; finally, they underscore the role of chromosomal instability, especially in the pathogenesis of neoplasia.

  13. An Unexpected Cause of Pelvic Pain in a Pubertal Case: Herlyn-Werner-Wunderlich Syndrome

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    Yasemin Kayadibi

    2014-03-01

    Full Text Available Uterovaginal duplication with imperforated hemivagina is a rare type of Mullerian anomaly. If ipsilateral renal agenesis is associated with this complex genital malformation, it is called Herlyn-Werner-Wunderlich syndrome. Clinical presentations of this syndrome include pelvic pain and mass effect due to obstructed hemivagina in pubertal adolescents and adults. Hematocolpos, even after menstruation period, leads to misdiagnosis. Laparotomy is the gold standard for the diagnosis, however, magnetic resonance imaging has an accuracy upto 100% in evaluating uterovajinal anatomy. In this article, we aimed to present ultrasonographic and magnetic resonance imaging findings in a patient with Herlyn-Werner-Wun derlich syndrome who presented with cyclic pelvic pain. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 60-3

  14. A rare cause of acute abdominal pain: Herlyn-Werner-Wunderlich syndrome.

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    Aydin, Ramazan; Ozdemir, Ayse Zehra; Ozturk, Bahadir; Bilgici, Meltem Ceyhan; Tosun, Migraci

    2014-01-01

    Herlyn-Werner-Wunderlich (HWW) syndrome is a rare müllerian duct anomaly with uterus didelphys, unilateral obstructed hemivagina, and ipsilateral renal agenesis. Patients with this syndrome generally present after menarche with pelvic pain and mass and, rarely, primary infertility in later years. Strong suspicion and knowledge of this syndrome are mandatory for an accurate diagnosis. A 14-year-old female patient presented with acute retention of urine and abdominopelvic pain. Her condition was diagnosed with the use ultrasonography and magnetic resonance imaging as a case of HWW syndrome. She was treated with vaginal hemiseptal resection. The HWW syndrome should be considered among the differential diagnoses in girls with renal anomalies presenting with pelvic mass, symptoms of acute abdominal pain, and acute urinary retention.

  15. Herlyn Werner Wunderlich Syndrome with Hematocolpos: An Unusual Case Report of Full Diagnostic Approach and Treatment

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    Rohit Bhoil

    2016-05-01

    Full Text Available Herlyn-Werner-Wunderlich (HWW syndrome is an uncommon combined müllerian duct anomalies (MDAs and mesonephric duct malformation of female urogenital tract characterized by uterus didelphys and obstructed hemi-vagina and ipsilateral renal agenesis (OHVIRA syndrome. We present a rare and unusual case of this syndrome in a 19 year-old female who suffered from hypomenorrhoea and abdominal pain. She had an obstructed hemi-vagina on right side which led to marked distention of ipsilateral cervix, while proximal hemi-vagina compressed the contralateral side causing its partial obstruction resulting in hypomenorrhoea. Understanding the imaging findings of this rare condition is important for early diagnosis in order to prevent complications which may lead to infertility.

  16. Síndrome de Werner associada a quadro esclerodermiforme: relato de caso e revisão da literatura Werner's syndrome associated with scleroderma-like syndrome: case report and literature revision

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    Cristiane Kayser

    2008-04-01

    Full Text Available A síndrome de Werner é uma doença autossômica recessiva rara associada a envelhecimento precoce, cujo quadro cutâneo deve ser distinguido daquele encontrado na esclerose sistêmica (ES. Descrevemos aqui o caso de uma paciente de 39 anos de idade, portadora de síndrome de Werner, encaminhada ao nosso serviço com hipótese diagnóstica inicial de ES. A paciente apresentava várias manifestações associadas à síndrome de Werner, incluindo cabelos precocemente grisalhos, voz estridente, baixa estatura, alterações cutâneas esclerodermiformes, diabetes melito, catarata, hipogonadismo, hipotireoidismo e hiperlipidemia. Não apresentava fenômeno de Raynaud, manifestações viscerais típicas da ES, alterações capilaroscópicas periungueais ou auto-anticorpos. O diagnóstico de síndrome de Werner, apesar de raro, deve ser lembrado no diagnóstico diferencial de ES, principalmente na presença de manifestações atípicas e na ausência de alterações típicas da ES.Werner's syndrome is a rare autosomal recessive disease associated with premature ageing. Skin alteration must be distinguished from cutaneous manifestation of systemic sclerosis (SSc. We describe a case of a 39 years old patient with Werner's syndrome admitted with an initial diagnostic hypothesis of SSc. The patient had many characteristic features associated with Werner's syndrome including gray hair, hoarseness, short stature, scleroderma-like skin changes, diabetes mellitus, cataracts, hypogonadism, hypothyroidism, and hyperlipidemia. There was no Raynaud's phenomenon, other typical visceral manifestation of SSc, nailfold capillary alterations or autoantibodies. Werner's syndrome diagnosis notwithstanding rare, should be remember in the differential diagnosis of SSc, mainly in the presence of atypical manifestations and in the absence of typical features of SSc.

  17. An unusual organ involvement in a case of Werner Syndrome: thyroid atrophy

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    Mustafa Altay

    2015-06-01

    Full Text Available Abstract: Werner Syndrome (WS is a premature aging disease that begins in adolescence or early adulthood and results in the appearance of old age by 30-40 years of age. Some endocrinological abnormalities were manifested in this rare disease, such as hypogonadism, diabetes mellitus, hyperlipidemia. In this article, we present a nineteen years-old female patient who had been diagnosed as WS two years ago because of type 2 diabetes mellitus, osteopenia, hyperlipidemia, cataract, gray hair, and skin atrophy. Subclinical hypothyroidism was detected at her laboratory tests. Thyroid ultrasonography (USG showed thyroid atrophy. Fine needle aspiration biopsy of both lobes confirmed this diagnose and excluded some infiltrative diseases such as amyloidosis. It should be kept in mind that thyroid atrophy could be seen in WS and, therefore, detailed thyroid examination including thyroid USG and close follow up should be performed in all patients with WS. [J Contemp Med 2015; 5(2.000: 144-146

  18. Evaluating the Role of p38 MAPK in the Accelerated Cell Senescence of Werner Syndrome Fibroblasts

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    Terence Davis

    2016-04-01

    Full Text Available Progeroid syndromes show features of accelerated ageing and are used as models for human ageing, of which Werner syndrome (WS is one of the most widely studied. WS fibroblasts show accelerated senescence that may result from p38 MAP kinase activation since it is prevented by the p38 inhibitor SB203580. Thus, small molecule inhibition of p38-signalling may be a therapeutic strategy for WS. To develop this approach issues such as the in vivo toxicity and kinase selectivity of existing p38 inhibitors need to be addressed, so as to strengthen the evidence that p38 itself plays a critical role in mediating the effect of SB203580, and to find an inhibitor suitable for in vivo use. In this work we used a panel of different p38 inhibitors selected for: (1 having been used successfully in vivo in either animal models or human clinical trials; (2 different modes of binding to p38; and (3 different off-target kinase specificity profiles, in order to critically address the role of p38 in the premature senescence seen in WS cells. Our findings confirmed the involvement of p38 in accelerated cell senescence and identified p38 inhibitors suitable for in vivo use in WS, with BIRB 796 the most effective.

  19. Gram-scale synthesis of the p38α MAPK-inhibitor VX-745 for preclinical studies into Werner syndrome.

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    Bagley, Mark C; Davis, Terence; Dix, Matthew C; Fusillo, Vincenzo; Pigeaux, Morgane; Rokicki, Michal J; Kipling, David

    2010-09-01

    The ATP-competitive p38α MAPK inhibitor VX-745 exhibits an exquisite kinase selectivity profile, is effective in blocking p38 stress signaling in Werner syndrome dermal fibroblasts, has efficacy in clinical trials and may have therapeutic value against Werner syndrome. Previous synthetic routes, however, have only resulted in milligram quantities suitable for cell-based studies, whereas gram quantities would be required for in vivo use. Microwave irradiation using a stop-flow monomodal microwave reactor has been found to facilitate scale-up of the synthesis of VX-745. Ullmann-type C-S bond formation using thiophenol, chloropyridazine, copper(I) catalyst and diol ligand proceeds rapidly and efficiently in this apparatus for elaboration to the pyrimido[1,6-b]pyridazinone core of VX-745 on gram scale and with good overall yield. This method delivers the p38 inhibitor VX-745 in sufficient quantities for preclinical studies to rescue the aging phenotype in Werner syndrome.

  20. Telomerase Protects Werner Syndrome Lineage-Specific Stem Cells from Premature Aging

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    Hoi-Hung Cheung

    2014-04-01

    Full Text Available Werner syndrome (WS patients exhibit premature aging predominantly in mesenchyme-derived tissues, but not in neural lineages, a consequence of telomere dysfunction and accelerated senescence. The cause of this lineage-specific aging remains unknown. Here, we document that reprogramming of WS fibroblasts to pluripotency elongated telomere length and prevented telomere dysfunction. To obtain mechanistic insight into the origin of tissue-specific aging, we differentiated iPSCs to mesenchymal stem cells (MSCs and neural stem/progenitor cells (NPCs. We observed recurrence of premature senescence associated with accelerated telomere attrition and defective synthesis of the lagging strand telomeres in MSCs, but not in NPCs. We postulate this “aging” discrepancy is regulated by telomerase. Expression of hTERT or p53 knockdown ameliorated the accelerated aging phenotypein MSC, whereas inhibition of telomerase sensitized NPCs to DNA damage. Our findings unveil a role for telomerase in the protection of accelerated aging in a specific lineage of stem cells.

  1. Herlyn-Werner-Wunderlich Syndrome Consisting of Uterine Didelphys, Obstructed Hemivagina and Ipsilateral Renal Agenesis in a Newborn

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    Tsung-Hsin Wu

    2012-02-01

    Full Text Available Herlyn-Werner-Wunderlich (HWW syndrome is a rare variant of Müllerian duct anomalies consisting of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Patients with HWW syndrome are usually asymptomatic until menarche, when they present with acute lower abdominal pain. Here we report a case of a female newborn with right renal agenesis diagnosed during the pregnancy. The patient presented with a protruding mass over the vaginal introitus that was associated with an obstructed hemivagina and uterine didelphys.

  2. Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome.

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    Yamaga, Masaya; Takemoto, Minoru; Takada-Watanabe, Aki; Koizumi, Naoko; Kitamoto, Takumi; Sakamoto, Kenichi; Ishikawa, Takahiro; Koshizaka, Masaya; Maezawa, Yoshiro; Yokote, Koutaro

    2017-08-01

    To determine recent trends in mutation patterns in the WRN gene, which cause Werner syndrome (WS), a rare, inheritable progeroid syndrome in Japan. Retrospective cohort. Longitudinal survey of WS and literature search for case reports. Individuals whose genetic testing their facilities had requested between 2009 and October 2016 (N = 67). A nationwide epidemiological study was conducted from 2009 to 2011 to improve understanding of the pathology of WS and develop therapeutic guidelines. Since 2009, Chiba University Hospital consecutively evaluated the WRN gene in 67 individuals throughout Japan who had requested genetic testing. A literature search was also conducted for case reports on Japanese WS reported since 1997. A definitive diagnosis of WS was confirmed genetically in 50 of 67 participants. Through the literature search, 16 individuals diagnosed genetically with WS were identified. Of these 66 individuals with WS, 42 were homozygous for a WRN mutation, and 21 were compound heterozygotes. One novel mutant allele was identified in an individual with the compound heterozygous genotype. The proportion of compound heterozygotes (31.8%) was significantly greater than reported previously (14.2%), indicating that the incidence of consanguineous marriage of parents has decreased. The increased frequency of individuals with WS with the compound heterozygous genotype is a recent trend in Japan. A long-term follow-up study on WRN homozygotes and compound heterozygotes will allow the relationship between WRN genotype and clinical severity of WS to be evaluated in the future. © 2017, Copyright the Authors Journal compilation © 2017, The American Geriatrics Society.

  3. Herlyn-werner-wunderlich syndrome: MRI findings, radiological guide (two cases and literature review), and differential diagnosis

    International Nuclear Information System (INIS)

    Del Vescovo, Riccardo; Battisti, Sofia; Di Paola, Valerio; Piccolo, Claudia L; Cazzato, Roberto L; Sansoni, Ilaria; Grasso, Rosario F; Zobel, Bruno Beomonte

    2012-01-01

    Herlyn-Werner-Wunderlich (HWW) syndrome is a very rare congenital anomaly of the urogenital tract involving Müllerian ducts and Wolffian structures, and it is characterized by the triad of didelphys uterus, obstructed hemivagina and ipsilateral renal agenesis. It generally occurs at puberty and exhibits non-specific and variable symptoms with acute or pelvic pain shortly following menarche, causing a delay in the diagnosis. Moreover, the diagnosis is complicated by the infrequency of this syndrome, because Müllerian duct anomalies (MDA) are infrequently encountered in a routine clinical setting. two cases of HWW syndrome in adolescents and a differential diagnosis for one case of a different MDA, and the impact of magnetic resonance (MR) imaging technology to achieve the correct diagnosis. MR imaging is a very suitable diagnostic tool in order to perform the correct diagnosis of HWW syndrome

  4. Competition between the DNA unwinding and strand pairing activities of the Werner and Bloom syndrome proteins

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    Orren David K

    2006-01-01

    Full Text Available Abstract Background The premature aging and cancer-prone Werner and Bloom syndromes are caused by defects in the RecQ helicase enzymes WRN and BLM, respectively. Recently, both WRN and BLM (as well as several other RecQ members have been shown to possess a strand annealing activity in addition to the requisite DNA unwinding activity. Since an annealing function would appear to directly oppose the action of a helicase, we have examined in this study the dynamic equilibrium between unwinding and annealing mediated by either WRN or BLM. Results Our investigation into the competition between annealing and unwinding demonstrates that, under standard reaction conditions, WRN- or BLM-mediated annealing can partially or completely mask unwinding as measured in standard helicase assays. Several strategies were employed to suppress the annealing activity so that the actual strength of WRN- or BLM-dependent unwinding could be more accurately assessed. Interestingly, if a DNA oligomer complementary to one strand of the DNA substrate to be unwound is added during the helicase reaction, both WRN and BLM unwinding is enhanced, presumably by preventing protein-mediated re-annealing. This strategy allowed measurement of WRN-catalyzed unwinding of long (80 base pair duplex regions and fully complementary, blunt-ended duplexes, both of which were otherwise quite refractory to the helicase activity of WRN. Similarly, the addition of trap strand stimulated the ability of BLM to unwind long and blunt-ended duplexes. The stimulatory effect of the human replication protein A (hRPA, the eukaryotic single-stranded DNA binding protein on both WRN- and BLM-dependent unwinding was also re-examined in light of its possible role in preventing re-annealing. Our results show that hRPA influences the outcome of WRN and BLM helicase assays by both inhibiting re-annealing and directly promoting unwinding, with the larger contribution from the latter mechanism. Conclusion These

  5. Synthesis of the highly selective p38 MAPK inhibitor UR-13756 for possible therapeutic use in Werner syndrome.

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    Bagley, Mark C; Davis, Terence; Rokicki, Michal J; Widdowson, Caroline S; Kipling, David

    2010-02-01

    UR-13756 is a potent and selective p38 mitogen-activated protein kinase (MAPK) inhibitor, reported to have good bioavailability and pharmacokinetic properties and, thus, is of potential use in the treatment of accelerated aging in Werner syndrome. Irradiation of 2-chloroacrylonitrile and methylhydrazine in ethanol at 100 °C gives 1-methyl-3-aminopyrazole, which reacts with 4-fluorobenzaldehyde and a ketone, obtained by Claisen condensation of 4-picoline, in a Hantzsch-type 3-component hereocyclocondensation, to give the pyrazolopyridine UR-13756. UR-13756 shows p38 MAPK inhibitory activity in human telomerase reverse transcriptase-immortalized HCA2 dermal fibroblasts, with an IC(50) of 80 nm, as shown by ELISA, is 100% efficacious for up to 24 h at 1.0 μm and displays excellent kinase selectivity over the related stress-activated c-Jun kinases. In addition, UR-13756 is an effective p38 inhibitor at 1.0 μm in Werner syndrome cells, as shown by immunoblot. The convergent synthesis of UR-13756 is realized using microwave dielectric heating and provides a highly selective inhibitor that shows excellent selectivity for p38 MAPK over c-Jun N-terminal kinase.

  6. Biochemical characterization of an exonuclease from Arabidopsis thaliana reveals similarities to the DNA exonuclease of the human Werner syndrome protein.

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    Plchova, Helena; Hartung, Frank; Puchta, Holger

    2003-11-07

    The human Werner syndrome protein (hWRN-p) possessing DNA helicase and exonuclease activities is essential for genome stability. Plants have no homologue of this bifunctional protein, but surprisingly the Arabidopsis genome contains a small open reading frame (ORF) (AtWRNexo) with homology to the exonuclease domain of hWRN-p. Expression of this ORF in Escherichia coli revealed an exonuclease activity for AtWRN-exo-p with similarities but also some significant differences to hWRN-p. The protein digests recessed strands of DNA duplexes in the 3' --> 5' direction but hardly single-stranded DNA or blunt-ended duplexes. In contrast to the Werner exonuclease, AtWRNexo-p is also able to digest 3'-protruding strands. DNA with recessed 3'-PO4 and 3'-OH termini is degraded to a similar extent. AtWRNexo-p hydrolyzes the 3'-recessed strand termini of duplexes containing mismatched bases. AtWRNexo-p needs the divalent cation Mg2+ for activity, which can be replaced by Mn2+. Apurinic sites, cholesterol adducts, and oxidative DNA damage (such as 8-oxoadenine and 8-oxoguanine) inhibit or block the enzyme. Other DNA modifications, including uracil, hypoxanthine and ethenoadenine, did not inhibit AtWRNexo-p. A mutation of a conserved residue within the exonuclease domain (E135A) completely abolished the exonucleolytic activity. Our results indicate that a type of WRN-like exonuclease activity seems to be a common feature of the DNA metabolism of animals and plants.

  7. Aging stem cells. A Werner syndrome stem cell model unveils heterochromatin alterations as a driver of human aging.

    Science.gov (United States)

    Zhang, Weiqi; Li, Jingyi; Suzuki, Keiichiro; Qu, Jing; Wang, Ping; Zhou, Junzhi; Liu, Xiaomeng; Ren, Ruotong; Xu, Xiuling; Ocampo, Alejandro; Yuan, Tingting; Yang, Jiping; Li, Ying; Shi, Liang; Guan, Dee; Pan, Huize; Duan, Shunlei; Ding, Zhichao; Li, Mo; Yi, Fei; Bai, Ruijun; Wang, Yayu; Chen, Chang; Yang, Fuquan; Li, Xiaoyu; Wang, Zimei; Aizawa, Emi; Goebl, April; Soligalla, Rupa Devi; Reddy, Pradeep; Esteban, Concepcion Rodriguez; Tang, Fuchou; Liu, Guang-Hui; Belmonte, Juan Carlos Izpisua

    2015-06-05

    Werner syndrome (WS) is a premature aging disorder caused by WRN protein deficiency. Here, we report on the generation of a human WS model in human embryonic stem cells (ESCs). Differentiation of WRN-null ESCs to mesenchymal stem cells (MSCs) recapitulates features of premature cellular aging, a global loss of H3K9me3, and changes in heterochromatin architecture. We show that WRN associates with heterochromatin proteins SUV39H1 and HP1α and nuclear lamina-heterochromatin anchoring protein LAP2β. Targeted knock-in of catalytically inactive SUV39H1 in wild-type MSCs recapitulates accelerated cellular senescence, resembling WRN-deficient MSCs. Moreover, decrease in WRN and heterochromatin marks are detected in MSCs from older individuals. Our observations uncover a role for WRN in maintaining heterochromatin stability and highlight heterochromatin disorganization as a potential determinant of human aging. Copyright © 2015, American Association for the Advancement of Science.

  8. Microwave-Assisted Synthesis of a MK2 Inhibitor by Suzuki-Miyaura Coupling for Study in Werner Syndrome Cells

    Directory of Open Access Journals (Sweden)

    Mark C. Bagley

    2015-06-01

    Full Text Available Microwave-assisted Suzuki-Miyaura cross-coupling reactions have been employed towards the synthesis of three different MAPKAPK2 (MK2 inhibitors to study accelerated aging in Werner syndrome (WS cells, including the cross-coupling of a 2-chloroquinoline with a 3-pyridinylboronic acid, the coupling of an aryl bromide with an indolylboronic acid and the reaction of a 3-amino-4-bromopyrazole with 4-carbamoylphenylboronic acid. In all of these processes, the Suzuki-Miyaura reaction was fast and relatively efficient using a palladium catalyst under microwave irradiation. The process was incorporated into a rapid 3-step microwave-assisted method for the synthesis of a MK2 inhibitor involving 3-aminopyrazole formation, pyrazole C-4 bromination using N-bromosuccinimide (NBS, and Suzuki-Miyaura cross-coupling of the pyrazolyl bromide with 4-carbamoylphenylboronic acid to give the target 4-arylpyrazole in 35% overall yield, suitable for study in WS cells.

  9. Delayed diagnosis of Herlyn-Werner-Wunderlich syndrome due to microperforation and pyocolpos in obstructed vaginal canal.

    Science.gov (United States)

    Wozniakowska, Ewa; Torres, Anna; Milart, Pawel; Wozniak, Slawomir; Czuczwar, Piotr; Szkodziak, Piotr; Paszkowski, Tomasz

    2014-08-01

    To present a rare anomaly consisting of uterus didelphys, longitudinal vaginal septum, obstructed hemivagina with pyocolpos, fistula to the open vaginal canal, and ipsilateral renal agenesis, referred as Herlyn-Werner-Wunderlich syndrome (HWWS). A 14-year-old girl with recurring purulent vaginal discharge lasting for a few months. Preoperative examination revealed one vaginal canal with one cervical opening on the right side. There was a fistula leading from the obstructed vaginal canal to the left vagina. Intravaginal ultrasound examination demonstrated a longitudinal vaginal septum and a closed pyocolpos on the right side. The longitudinal vaginal septum was excised by way of electrocauterization under direct vision. HWWS should be considered in the differential diagnosis in patients with uterus didelphys and unusual symptoms such as pyocolpos and vaginal discharge. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  10. The effect of RO3201195 and a pyrazolyl ketone P38 MAPK inhibitor library on the proliferation of Werner syndrome cells.

    Science.gov (United States)

    Bagley, Mark C; Dwyer, Jessica E; Baashen, Mohammed; Dix, Matthew C; Murziani, Paola G S; Rokicki, Michal J; Kipling, David; Davis, Terence

    2016-01-21

    Microwave-assisted synthesis of the pyrazolyl ketone p38 MAPK inhibitor RO3201195 in 7 steps and 15% overall yield, and the comparison of its effect upon the proliferation of Werner Syndrome cells with a library of pyrazolyl ketones, strengthens the evidence that p38 MAPK inhibition plays a critical role in modulating premature cellular senescence in this progeroid syndrome and the reversal of accelerated ageing observed in vitro on treatment with SB203580.

  11. The effect of small-molecule inhibition of MAPKAPK2 on cell ageing phenotypes of fibroblasts from human Werner syndrome

    Directory of Open Access Journals (Sweden)

    Davis Terence

    2013-01-01

    Full Text Available Abstract Fibroblasts derived from the progeroid Werner syndrome (WS show reduced replicative lifespan and a “stressed” morphology, both phenotypes being alleviated by using the p38 MAP kinase inhibitor SB203580. Because p38 is a major hub for the control of stress-signalling pathways we were interested in examining the possible role for downstream kinases in order to refine our understanding of the role of p38 signalling in regulation of WS cell growth. To this end we treated WS and normal fibroblasts with MK2 inhibitors to determine whether MK2 inhibition would affect either the growth or morphology of WS cells. The first inhibitor, 7,8-dihydroxy-2,4-diamino-3-cyanobenzopyranopyridine (inhibitor 2, resulted in inhibition of WS cell growth and had no effect on morphology, effects that occurred below the level needed to inhibit MK2 and thus suggestive of inhibitor toxicity. The second inhibitor, 2-(2-quinolin-3-ylpyridin-4-yl-1,5,6,7-tetrahydro-4H-pyrrolo-[3,2-c]pyridin-4-one (CMPD16, resulted in a significant extension of WS fibroblast replicative capacity compared to normal cells. In addition, CMPD16 reverted the WS cellular morphology to that seen in normal dermal fibroblasts. These data suggest that MK2 activity plays a substantial role in proliferation control in WS cells. CMPD16 was not as effective in cellular lifespan extension as SB203580, however, suggesting that, although MK2 is a downstream kinase involved in cell cycle arrest, other p38 targets may play a role. Alternatively, as CMPD16 is toxic to cell growth at levels just above those that extend lifespan, it is possible that the therapeutic window is too small. However, as CMPD16 does show significant effects in WS fibroblasts, this acts as proof-of-principle for the efforts to design and synthesise improved MK2 inhibitors. As MK2 is involved in inflammatory processes and inflammation plays a major role in WS phenotypes, these data suggest MK2 as a potential therapeutic target

  12. The DNA repair endonuclease XPG interacts directly and functionally with the WRN helicase defective in Werner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Trego, Kelly S.; Chernikova, Sophia B.; Davalos, Albert R.; Perry, J. Jefferson P.; Finger, L. David; Ng, Cliff; Tsai, Miaw-Sheue; Yannone, Steven M.; Tainer, John A.; Campisi, Judith; Cooper, Priscilla K.

    2011-04-20

    XPG is a structure-specific endonuclease required for nucleotide excision repair (NER). XPG incision defects result in the cancer-prone syndrome xeroderma pigmentosum, whereas truncating mutations of XPG cause the severe postnatal progeroid developmental disorder Cockayne syndrome. We show that XPG interacts directly with WRN protein, which is defective in the premature aging disorder Werner syndrome, and that the two proteins undergo similar sub-nuclear redistribution in S-phase and co-localize in nuclear foci. The co-localization was observed in mid- to late-S-phase, when WRN moves from nucleoli to nuclear foci that have been shown to contain protein markers of both stalled replication forks and telomeric proteins. We mapped the interaction between XPG and WRN to the C-terminal domains of each and show that interaction with the C-terminal domain of XPG strongly stimulates WRN helicase activity. WRN also possesses a competing DNA single-strand annealing activity that, combined with unwinding, has been shown to coordinate regression of model replication forks to form Holliday junction/chicken foot intermediate structures. We tested whether XPG stimulated WRN annealing activity and found that XPG itself has intrinsic strand annealing activity that requires the unstructured R- and C-terminal domains, but not the conserved catalytic core or endonuclease activity. Annealing by XPG is cooperative, rather than additive, with WRN annealing. Taken together, our results suggest a novel function for XPG in S-phase that is at least in part carried out coordinately with WRN, and which may contribute to the severity of the phenotypes that occur upon loss of XPG.

  13. Reprogramming suppresses premature senescence phenotypes of Werner syndrome cells and maintains chromosomal stability over long-term culture.

    Directory of Open Access Journals (Sweden)

    Akira Shimamoto

    Full Text Available Werner syndrome (WS is a premature aging disorder characterized by chromosomal instability and cancer predisposition. Mutations in WRN are responsible for the disease and cause telomere dysfunction, resulting in accelerated aging. Recent studies have revealed that cells from WS patients can be successfully reprogrammed into induced pluripotent stem cells (iPSCs. In the present study, we describe the effects of long-term culture on WS iPSCs, which acquired and maintained infinite proliferative potential for self-renewal over 2 years. After long-term cultures, WS iPSCs exhibited stable undifferentiated states and differentiation capacity, and premature upregulation of senescence-associated genes in WS cells was completely suppressed in WS iPSCs despite WRN deficiency. WS iPSCs also showed recapitulation of the phenotypes during differentiation. Furthermore, karyotype analysis indicated that WS iPSCs were stable, and half of the descendant clones had chromosomal profiles that were similar to those of parental cells. These unexpected properties might be achieved by induced expression of endogenous telomerase gene during reprogramming, which trigger telomerase reactivation leading to suppression of both replicative senescence and telomere dysfunction in WS cells. These findings demonstrated that reprogramming suppressed premature senescence phenotypes in WS cells and WS iPSCs could lead to chromosomal stability over the long term. WS iPSCs will provide opportunities to identify affected lineages in WS and to develop a new strategy for the treatment of WS.

  14. Strand exchange of telomeric DNA catalyzed by the Werner syndrome protein (WRN) is specifically stimulated by TRF2

    Science.gov (United States)

    Edwards, Deanna N.; Orren, David K.; Machwe, Amrita

    2014-01-01

    Werner syndrome (WS), caused by loss of function of the RecQ helicase WRN, is a hereditary disease characterized by premature aging and elevated cancer incidence. WRN has DNA binding, exonuclease, ATPase, helicase and strand annealing activities, suggesting possible roles in recombination-related processes. Evidence indicates that WRN deficiency causes telomeric abnormalities that likely underlie early onset of aging phenotypes in WS. Furthermore, TRF2, a protein essential for telomere protection, interacts with WRN and influences its basic helicase and exonuclease activities. However, these studies provided little insight into WRN's specific function at telomeres. Here, we explored the possibility that WRN and TRF2 cooperate during telomeric recombination processes. Our results indicate that TRF2, through its interactions with both WRN and telomeric DNA, stimulates WRN-mediated strand exchange specifically between telomeric substrates; TRF2's basic domain is particularly important for this stimulation. Although TRF1 binds telomeric DNA with similar affinity, it has minimal effects on WRN-mediated strand exchange of telomeric DNA. Moreover, TRF2 is displaced from telomeric DNA by WRN, independent of its ATPase and helicase activities. Together, these results suggest that TRF2 and WRN act coordinately during telomeric recombination processes, consistent with certain telomeric abnormalities associated with alteration of WRN function. PMID:24880691

  15. Reprogramming suppresses premature senescence phenotypes of Werner syndrome cells and maintains chromosomal stability over long-term culture.

    Science.gov (United States)

    Shimamoto, Akira; Kagawa, Harunobu; Zensho, Kazumasa; Sera, Yukihiro; Kazuki, Yasuhiro; Osaki, Mitsuhiko; Oshimura, Mitsuo; Ishigaki, Yasuhito; Hamasaki, Kanya; Kodama, Yoshiaki; Yuasa, Shinsuke; Fukuda, Keiichi; Hirashima, Kyotaro; Seimiya, Hiroyuki; Koyama, Hirofumi; Shimizu, Takahiko; Takemoto, Minoru; Yokote, Koutaro; Goto, Makoto; Tahara, Hidetoshi

    2014-01-01

    Werner syndrome (WS) is a premature aging disorder characterized by chromosomal instability and cancer predisposition. Mutations in WRN are responsible for the disease and cause telomere dysfunction, resulting in accelerated aging. Recent studies have revealed that cells from WS patients can be successfully reprogrammed into induced pluripotent stem cells (iPSCs). In the present study, we describe the effects of long-term culture on WS iPSCs, which acquired and maintained infinite proliferative potential for self-renewal over 2 years. After long-term cultures, WS iPSCs exhibited stable undifferentiated states and differentiation capacity, and premature upregulation of senescence-associated genes in WS cells was completely suppressed in WS iPSCs despite WRN deficiency. WS iPSCs also showed recapitulation of the phenotypes during differentiation. Furthermore, karyotype analysis indicated that WS iPSCs were stable, and half of the descendant clones had chromosomal profiles that were similar to those of parental cells. These unexpected properties might be achieved by induced expression of endogenous telomerase gene during reprogramming, which trigger telomerase reactivation leading to suppression of both replicative senescence and telomere dysfunction in WS cells. These findings demonstrated that reprogramming suppressed premature senescence phenotypes in WS cells and WS iPSCs could lead to chromosomal stability over the long term. WS iPSCs will provide opportunities to identify affected lineages in WS and to develop a new strategy for the treatment of WS.

  16. Acrolein-exposed normal human lung fibroblasts in vitro: cellular senescence, enhanced telomere erosion, and degradation of Werner's syndrome protein.

    Science.gov (United States)

    Jang, Jun-Ho; Bruse, Shannon; Huneidi, Salam; Schrader, Ronald M; Monick, Martha M; Lin, Yong; Carter, A Brent; Klingelhutz, Aloysius J; Nyunoya, Toru

    2014-09-01

    Acrolein is a ubiquitous environmental hazard to human health. Acrolein has been reported to activate the DNA damage response and induce apoptosis. However, little is known about the effects of acrolein on cellular senescence. We examined whether acrolein induces cellular senescence in cultured normal human lung fibroblasts (NHLF). We cultured NHLF in the presence or absence of acrolein and determined the effects of acrolein on cell proliferative capacity, senescence-associated β-galactosidase activity, the known senescence-inducing pathways (e.g., p53, p21), and telomere length. We found that acrolein induced cellular senescence by increasing both p53 and p21. The knockdown of p53 mediated by small interfering RNA (siRNA) attenuated acrolein-induced cellular senescence. Acrolein decreased Werner's syndrome protein (WRN), a member of the RecQ helicase family involved in DNA repair and telomere maintenance. Acrolein-induced down-regulation of WRN protein was rescued by p53 knockdown or proteasome inhibition. Finally, we found that acrolein accelerated p53-mediated telomere shortening. These results suggest that acrolein induces p53-mediated cellular senescence accompanied by enhanced telomere attrition and WRN protein down-regulation.

  17. Introduction of a normal human chromosome 8 corrects abnormal phenotypes of Werner syndrome cells immortalized by expressing an hTERT gene

    International Nuclear Information System (INIS)

    Ariyoshi, Kentaro; Kodama, Seiji; Suzuki, Keiji; Goto, Makoto; Oshimura, Mitsuo; Ishizaki, Kanji; Watanabe, Masami

    2009-01-01

    Werner syndrome (WS) is an autosomal recessive disease characterized by premature aging and caused by mutations of the WRN gene mapped at 8p12. To examine functional complementation of WS phenotypes, we introduced a normal human chromosome 8 into a strain of WS fibroblasts (WS3RGB) immortalized by expressing a human telomerase reverse transcriptase subunit (hTERT) gene. Here, we demonstrate that the abnormal WS phenotypes including cellular sensitivities to 4-nitroquinoline-1-oxide (4NQO) and hydroxy urea (HU), and chromosomal radiosensitivity at G 2 phase are corrected by expression of the WRN gene mediated by introducing a chromosome 8. This indicates that those multiple abnormal WS phenotypes are derived from a primary, but not secondary, defect in the WRN gene. (author)

  18. Investigating the role of c-Jun N-terminal kinases in the proliferation of Werner syndrome fibroblasts using diaminopyridine inhibitors

    Directory of Open Access Journals (Sweden)

    Davis Terence

    2011-12-01

    Full Text Available Abstract Fibroblasts derived from the progeroid Werner syndrome show reduced replicative lifespan and a "stressed" morphology, both alleviated using the MAP kinase inhibitor SB203580. However, interpretation of these data is problematical because although SB203580 has the stress-activated kinases p38 and JNK1/2 as its preferred targets, it does show relatively low overall kinase selectivity. Several lines of data support a role for both p38 and JNK1/2 activation in the control of cellular proliferation and also the pathology of diseases of ageing, including type II diabetes, diseases to which Werner Syndrome individuals are prone, thus making the use of JNK inhibitors attractive as possible therapeutics. We have thus tested the effects of the widely used JNK inhibitor SP600125 on the proliferation and morphology of WS cells. In addition we synthesised and tested two recently described aminopyridine based inhibitors. SP600125 treatment resulted in the cessation of proliferation of WS cells and resulted in a senescent-like cellular phenotype that does not appear to be related to the inhibition of JNK1/2. In contrast, use of the more selective aminopyridine CMPD 6o at concentrations that fully inhibit JNK1/2 had a positive effect on cellular proliferation of immortalised WS cells, but no effect on the replicative lifespan of primary WS fibroblasts. In addition, CMPD 6o corrected the stressed WS cellular morphology. The aminopyridine CMPD 6r, however, had little effect on WS cells. CMDP 6o was also found to be a weak inhibitor of MK2, which may partially explain its effects on WS cells, since MK2 is known to be involved in regulating cellular morphology via HSP27 phosphorylation, and is thought to play a role in cell cycle arrest. These data suggest that total JNK1/2 activity does not play a substantial role in the proliferation control in WS cells.

  19. Werner Albrecht (1924 - 2014)

    CERN Multimedia

    2014-01-01

    Werner Albrecht, one of the very first mechanical designers recruited by CERN, passed away on 28 March. Born and educated in Zurich, where he spent the first years of his professional life, he joined CERN in June 1955.   Thanks to his experience and personality, he soon became the deputy to Frank Blythe, the head of the Synchrocyclotron (SC) technical office. The office, which included a large mechanical workshop, had been created in the light of the development and construction of the SC - the first of CERN’s accelerators. For around 25 years Werner kept this position at Frank’s side while the services under their responsibility evolved to become the natural facility to provide design and development for a large range of apparatus required by experimental physicists. After Frank’s retirement in 1980, Werner became head of the office, maintaining its typical character as an efficient, informal and friendly service. Omega, UA1, Aleph, Opal and Delphi are example...

  20. Correlations in Werner States

    International Nuclear Information System (INIS)

    Luo Shunlong; Li Nan

    2008-01-01

    Werner states are paradigmatic examples of quantum states and play an innovative role in quantum information theory. In investigating the correlating capability of Werner states, we find the curious phenomenon that quantum correlations, as quantified by the entanglement of formation, may exceed the total correlations, as measured by the quantum mutual information. Consequently, though the entanglement of formation is so widely used in quantifying entanglement, it cannot be interpreted as a consistent measure of quantum correlations per se if we accept the folklore that total correlations are measured (or rather upper bounded) by the quantum mutual information.

  1. Genetics Home Reference: Werner syndrome

    Science.gov (United States)

    ... 2 [updated 2016 Sep 29]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  2. Werner Herzog Tallinnas / Aare Ermel

    Index Scriptorium Estoniae

    Ermel, Aare, 1957-2013

    2002-01-01

    Detsembris toimuvat Pimedate Ööde Filmifestivali laiendatakse ka suvele, et sobivates paikades näidata väärtfilme. Alates 6. juunist näidatakse Katariina kirikus kuuel õhtul algusega kell 22 Werner Herzogi (1942) filme. Režissöörist ja näidatavatest filmidest

  3. Werner Heisenberg - Life and Work

    CERN Multimedia

    2002-01-01

    Werner Heisenberg (centre) with Wolfgang Pauli and Enrico Fermi, 1927. An exhibition on the life and work of Werner Heisenberg will be on display in the Main Building (Mezzanine) at CERN from 1 - 30 July*. German theoretical physicist Werner Karl Heisenberg (1901 - 1976) was one of the leading scientists of the 20th century. Nobel Prize in Physics in 1932, his most significant contribution was to the development of quantum mechanics. He is best known for his uncertainty principle, which restricts the accuracy with which some properties of atoms and particles can be determined simultaneously. Heisenberg was a keen supporter of CERN, and was as the first chairman of CERN's Scientific Policy Committee in October 1954. A related celebration will take place in the TH Amphitheatre (4/3-006), on Thursday 18 July at 16:00. After an introduction from the Director-General Luciano Maiani, his daughter, Barbara Blum, his last postgraduate, Helmut Rechenberg and Valentin Telegdi will evoke memories of the life and work ...

  4. Werner Heisenberg - Life and Work

    CERN Multimedia

    2002-01-01

    Werner Heisenberg (centre) with Wolfgang Pauli (left) and Enrico Fermi on Lake Como, September 1927. An exhibition on the life and work of Werner Heisenberg will be on display in the Main Building (Mezzanine) at CERN from 1 - 23 July. The exhibition was produced by the University Archive of Leipzig University (Gerald Wiemers) and the Max-Planck-Institut für Physik in Munich (Helmut Rechenberg) to mark the centenary of Heisenberg's birth in 1901. German theoretical physicist Werner Karl Heisenberg (5 December 1901 - 1 February 1976) was one of the leading scientists of the 20th century. He carried out important work in nuclear and particle physics, but his most significant contribution was to the development of quantum mechanics. He is best known for his uncertainty principle, which restricts the accuracy with which some properties of atoms and particles - such as position and linear momentum - can be determined simultaneously. In 1932 he was awarded the Noble Prize in Physics 'for the creation of q...

  5. Werner Kienzle (1936 – 2016)

    CERN Multimedia

    2016-01-01

    Werner was born in Wiernsheim, a small town in Baden-Württemberg close to Stuttgart. His childhood was profoundly marked by the war and the death of his father on the German eastern front.   Despite life after the war being difficult for his family, he was very successful in his academic studies and earned a fellowship at the University of Göttingen, where he did his PhD in solid-state physics. Werner joined CERN in 1964 as a post-doc fellow and he remained at the Organization for his entire career in experimental particle physics. Concerned and eager for peace in the tense context of the cold war, he was deeply involved in collaboration with Russian colleagues and participated in experiments in Serpukhov from 1968 to 1972. Back at CERN, his work concentrated on the search for experimental evidence of the presence of quarks in hadrons. He was among the main initiators of the NA3 experiment at the SPS that measured the structure functions of the pions: the results indicated a cro...

  6. Werner State Structure and Entanglement Classification

    Directory of Open Access Journals (Sweden)

    David W. Lyons

    2012-01-01

    Full Text Available We present applications of the representation theory of Lie groups to the analysis of structure and local unitary classification of Werner states, sometimes called the decoherence-free states, which are states of n quantum bits left unchanged by local transformations that are the same on each particle. We introduce a multiqubit generalization of the singlet state and a construction that assembles these qubits into Werner states.

  7. Werner Herzogi üksiklased / Kristiina Davidjants

    Index Scriptorium Estoniae

    Davidjants, Kristiina, 1974-

    2002-01-01

    Detsembris toimuvat Pimedate Ööde Filmifestivali laiendatakse ka suvele, et sobivates paikades näidata väärtfilme. Alates 6. juunist näidatakse Katariina kirikus Werner Herzogi (1942) filme. Lähemalt režissöörist

  8. Richard A. Werners forskning i pengeskabelse

    DEFF Research Database (Denmark)

    2016-01-01

    Hvilken rolle spiller penge i samfundsøkonomien og hvilken rolle burde penge spille i den økonomiske videnskab? Det forsker Richard Werner i. Han er professor i økonomi ved Southampton University i England, og her præsenteres fire dele af hans forskning i penge: (1) Hvad foregår der egentlig i en...

  9. Werner Karl Heisenberg (1901-1976)

    International Nuclear Information System (INIS)

    Kvasnica, J.

    1992-01-01

    The life's career of Werner Karl Heisenberg is described with emphasis on his creative development and cooperation with many other prominent physicists in the field of the quantum theory of atoms. In 1925, Heisenberg modified Bohr's quantum rule; in 1927 he formulated the uncertainty principle which puts some restrictions on the simultaneous determination of the position and momentum. In 1928, Heisenberg set up the quantum theory of ferromagnetism, which still underlies all theories of magnetic properties of substances. Soon after Chadwick's discovery of the neutron (1932), Heisenberg introduced the concept of the isospin - he interpreted the proton and the neutron as one particle (nucleon) in two charge states. Heisenberg's professional and pedagogical activities during and after the 2nd world war are also described. (Z.S.). 5 refs

  10. Samuel A. Werner Pioneer of Neutron Interferometry

    International Nuclear Information System (INIS)

    Klein, Anthony

    2005-01-01

    Full text: In 1975, Sam Werner and his collaborators on the staff of the Scientific Laboratory of the Ford Motor Company carried out one of the pioneering experiments in neutron interferometry at the 2MW University of Michigan research reactor. It was the famous COW Experiment on gravitationally induced quantum interference. Shortly thereafter he moved to the University of Missouri in Columbia, to set up a program of neutron scattering research, including neutron interferometry. In the 25 years until his retirement a large number of beautiful experiments have been performed by Sam, with his group, his numerous students and many international collaborators. The Interferometry and Coherence session at this conference has been organized in his honour and the collected papers presented by his friends, collaborators and former students form his Festschrift. (author)

  11. Werner Sombart and his reception in Italy

    Directory of Open Access Journals (Sweden)

    Simona Pisanelli

    2015-03-01

    Full Text Available This article intends to focus on the difficulty encountered by Werner Sombart’s works in gaining a hearing in various Italian intellectual circuits. As is well known, Sombart belonged to the German Historical School of economics, sharing with other scholars of that school the same problems in getting his work known in Italy. Our aim is to explain the reason for this hostile reception. First of all, we will analyze the factors which generally hindered the spread of the German Historical School in Italy, recognizing in economists like Francesco Ferrara, Idealists like Benedetto Croce and Marxists like Antonio Labriola some of its strongest opponents. We will dwell on the cases of Gustav Schmoller and Max Weber, in order to give two representative examples of the slow and complicated Italian reception of methodological approaches and analytical perspectives which characterized the scientific experience of the German Historical School. Secondly, we will try to show why Sombart was even less appreciated than other German social scientists, giving the reasons that attracted severe criticism from economists, economic historians and sociologists towards his interdisciplinary approach in the analysis of modern capitalism. Finally, we will show the reasons of the contemporary rediscovery of Sombart and of his works.

  12. Adaptive estimation and discrimination of Holevo-Werner channels

    Directory of Open Access Journals (Sweden)

    Cope Thomas P. W.

    2017-12-01

    Full Text Available The class of quantum states known as Werner states have several interesting properties, which often serve to illuminate unusual properties of quantum information. Closely related to these states are the Holevo- Werner channels whose Choi matrices are Werner states. Exploiting the fact that these channels are teleportation covariant, and therefore simulable by teleportation, we compute the ultimate precision in the adaptive estimation of their channel-defining parameter. Similarly, we bound the minimum error probability affecting the adaptive discrimination of any two of these channels. In this case, we prove an analytical formula for the quantum Chernoff bound which also has a direct counterpart for the class of depolarizing channels. Our work exploits previous methods established in [Pirandola and Lupo, PRL 118, 100502 (2017] to set the metrological limits associated with this interesting class of quantum channels at any finite dimension.

  13. The Werner gap in the presence of simple coloured noise

    Science.gov (United States)

    Cong Tran, Minh; Laskowski, Wiesław; Paterek, Tomasz

    2014-10-01

    The ‘Werner gap’ is the range of relevant parameters characterizing a quantum state for which it is both entangled and admits a local hidden variable model. Werner showed that the gap becomes maximal for entanglement mixed with white noise if subsystems have infinitely many levels. Here we study pure entangled states mixed with simple coloured noise modelled as a single pure product state. We provide an explicit local hidden variable model for quantum correlations of some states of this family and provide hints that there is probably a model for all quantum predictions. This demonstrates essentially a maximal Werner gap already for just two qubits. Additionally to its fundamental interest, the study has implications for quantum computation and communication. This article is part of a special issue of Journal of Physics A: Mathematical and Theoretical devoted to ‘50 years of Bell’s theorem’.

  14. Werner Heisenberg, 5 December 1901 - 1 February 1976

    International Nuclear Information System (INIS)

    Mott, N.; Peierls, R.

    1977-01-01

    An account is given of the life and work of Werner Heisenberg, with particular reference to his contribution to quantum mechanics and the formulation of the uncertainty principle. The development of atomic energy in Germany during the war is described, and the part played by Heisenberg in German post-war science. (U.K.)

  15. Stochastic simulations of normal aging and Werner's syndrome.

    KAUST Repository

    Qi, Qi; Wattis, Jonathan A D; Byrne, Helen M

    2014-01-01

    aging. Using this model, we study various hypotheses for the way in which shortening occurs by comparing their impact on aging at the chromosome and cell levels. We consider different types of length-dependent loss and replication probabilities

  16. Quantifying tripartite entanglement for three-qubit generalized Werner states

    Energy Technology Data Exchange (ETDEWEB)

    Siewert, Jens [Departamento de Quimica Fisica, Universidad del Pais Vasco, 48080 Bilbao (Spain); Ikerbasque, Basque Foundation for Science, 48011 Bilbao (Spain); Eltschka, Christopher [Institut fuer Theoretische Physik, Universitaet Regensburg, D-93040 Regensburg (Germany)

    2012-07-01

    The adequate quantification of entanglement in multipartite mixed states is still a theoretically unsolved problem, even in the case of three qubits. In order to investigate the robustness of entanglement against noise one often employs the so-called generalized Werner states, i.e., pure maximally entangled states mixed with the completely unpolarized state. Even for those states there are no quantitative results available. In this contribution, we present the solution of the problem for three-qubit generalized Werner states (as well as for the whole family of full-rank mixed states which obey the Greenberger-Horne-Zeilinger symmetry) by providing an exact quantitative account of the tripartite entanglement contained in those states.

  17. Werner Herzog - saksa kino atleet ja aadlik / Mart Rummo

    Index Scriptorium Estoniae

    Rummo, Mart

    2002-01-01

    Alates 6. juunist näidatakse Katariina kirikus kuuel õhtul algusega kell 22 Werner Herzogi (1942) filme. Väljavõtteid W. Herzogi poolt 1999. aastal Cannes'i festivali järel antud intervjuust, kus juttu ka režissööri suhetest näitleja Klaus Kinskiga, millest kõneleb ka Tallinnas näidatav "Minu armas vaenlane"

  18. Werner-Wheeler mass tensor for fusionlike configuration

    International Nuclear Information System (INIS)

    Gherghescu, R.A.; Poenaru, D.N.

    2005-01-01

    The Werner-Wheeler approach is used to calculate the components of the mass tensor for a binary configuration of two intersected spheroids. Four free coordinates form the deformation space: the small semiaxis of the projectile, the two semiaxis ratios of the spheroids, and the distance between centers. A correction term is also calculated, due to the center of mass motion. Final results are presented for the fusion channel 54 Cr+ 240 Pu, and all possible couplings are analyzed

  19. Werner complex deficiency in cells disrupts the Nuclear Pore Complex and the distribution of lamin B1.

    Science.gov (United States)

    Li, Zhi; Zhu, Yizhou; Zhai, Yujia; R Castroagudin, Michelle; Bao, Yifei; White, Tommy E; Glavy, Joseph S

    2013-12-01

    From the surrounding shell to the inner machinery, nuclear proteins provide the functional plasticity of the nucleus. This study highlights the nuclear association of Pore membrane (POM) protein NDC1 and Werner protein (WRN), a RecQ helicase responsible for the DNA instability progeria disorder, Werner Syndrome. In our previous publication, we connected the DNA damage sensor Werner's Helicase Interacting Protein (WHIP), a binding partner of WRN, to the NPC. Here, we confirm the association of the WRN/WHIP complex and NDC1. In established WRN/WHIP knockout cell lines, we further demonstrate the interdependence of WRN/WHIP and Nucleoporins (Nups). These changes do not completely abrogate the barrier of the Nuclear Envelope (NE) but do affect the distribution of FG Nups and the RAN gradient, which are necessary for nuclear transport. Evidence from WRN/WHIP knockout cell lines demonstrates changes in the processing and nucleolar localization of lamin B1. The appearance of "RAN holes" void of RAN corresponds to regions within the nucleolus filled with condensed pools of lamin B1. From WRN/WHIP knockout cell line extracts, we found three forms of lamin B1 that correspond to mature holoprotein and two potential post-translationally modified forms of the protein. Upon treatment with topoisomerase inhibitors lamin B1 cleavage occurs only in WRN/WHIP knockout cells. Our data suggest the link of the NDC1 and WRN as one facet of the network between the nuclear periphery and genome stability. Loss of WRN complex leads to multiple alterations at the NPC and the nucleolus. © 2013. Published by Elsevier B.V. All rights reserved.

  20. Sufficient and necessary condition of separability for generalized Werner states

    International Nuclear Information System (INIS)

    Deng Dongling; Chen Jingling

    2009-01-01

    In a celebrated paper [Optics Communications 179, 447, 2000], A.O. Pittenger and M.H. Rubin presented for the first time a sufficient and necessary condition of separability for the generalized Werner states. Inspired by their ideas, we generalized their method to a more general case. We obtain a sufficient and necessary condition for the separability of a specific class of N d-dimensional system (qudits) states, namely special generalized Werner state (SGWS): W [d N ] (v)=(1-v)(I (N) )/(d N ) +v|ψ d N > d N |, where |ψ d N >=Σ i=0 d-1 α i |i...i> is an entangled pure state of N qudits system and α i satisfies two restrictions: (i) Σ i=0 d-1 α i α i *=1; (ii) Matrix 1/d (I (1) +TΣ i≠j α i |i> j *), where T=Min i≠j {1/|α i α j |}, is a density matrix. Our condition gives quite a simple and efficiently computable way to judge whether a given SGWS is separable or not and previously known separable conditions are shown to be special cases of our approach

  1. Neutron interferometry: The pioneering contributions of Samuel A. Werner

    International Nuclear Information System (INIS)

    Klein, A.G.

    2006-01-01

    In 1975, Sam Werner, while on the staff of the Scientific Laboratory of the Ford Motor Company, and his collaborators from Purdue University, Roberto Colella and Albert Overhauser, carried out one of the pioneering experiments in neutron interferometry at the 2 MW University of Michigan research reactor. It was the famous COW Experiment [Colella et al., Phys. Rev. Lett. 34 (1975) 1472] on gravitationally induced quantum interference. Shortly thereafter he moved to University of Missouri in Columbia, to set up a program of neutron scattering research, including neutron interferometry. In the 25 years until his retirement a large number of beautiful experiments have been performed by Sam, with his group, his numerous students and many international collaborators. This work and its history are briefly reviewed in this paper

  2. Nucleolin inhibits G4 oligonucleotide unwinding by Werner helicase.

    Directory of Open Access Journals (Sweden)

    Fred E Indig

    Full Text Available The Werner protein (WRNp, a member of the RecQ helicase family, is strongly associated with the nucleolus, as is nucleolin (NCL, an important nucleolar constituent protein. Both WRNp and NCL respond to the effects of DNA damaging agents. Therefore, we have investigated if these nuclear proteins interact and if this interaction has a possible functional significance in DNA damage repair.Here we report that WRNp interacts with the RNA-binding protein, NCL, based on immunoprecipitation, immunofluorescent co-localization in live and fixed cells, and direct binding of purified WRNp to nucleolin. We also map the binding region to the C-terminal domains of both proteins. Furthermore, treatment of U2OS cells with 15 µM of the Topoisomerase I inhibitor, camptothecin, causes the dissociation of the nucleolin-Werner complex in the nucleolus, followed by partial re-association in the nucleoplasm. Other DNA damaging agents, such as hydroxyurea, Mitomycin C, and aphidicolin do not have these effects. Nucleolin or its C-terminal fragment affected the helicase, but not the exonuclease activity of WRNp, by inhibiting WRN unwinding of G4 tetraplex DNA structures, as seen in activity assays and electrophoretic mobility shift assays (EMSA.These data suggest that nucleolin may regulate G4 DNA unwinding by WRNp, possibly in response to certain DNA damaging agents. We postulate that the NCL-WRNp complex may contain an inactive form of WRNp, which is released from the nucleolus upon DNA damage. Then, when required, WRNp is released from inhibition and can participate in the DNA repair processes.

  3. [The birth of acknowledgement: Michel Foucault and Werner Leibbrand].

    Science.gov (United States)

    Mildenberger, Florian

    2006-01-01

    In 1964, Werner Leibbrand (1896-1974) was the first German medical historian to present, in Sudhoffs Archiv, a review of the work of Michel Foucault (1926-1984). This paper examines some of the reasons leading to the fact that Leibbrand's own generation refused to acknowledge the importance of Foucault's ideas, while, later on, younger German medical historians, although impressed with Foucault's writings, failed to acknowledge, first, the close relationship between Leibbrand's and Foucault's world views, and, second, Leibbrand's attempts at introducing Foucault to German medical historians. Leibbrand with his Jewish wife had survived the Nazi period partly in hiding. His attempts at clearing post-war German psychiatry and medical historiography of NS-sympathizers isolated him among his colleagues, many of whom had begun their career during the Third Reich. Leibbrand enjoyed the support by the Swiss medical historian and avowed Communist Erwin Ackerknecht (1906-1988), but later turned against him, possibly because Acknerknecht had called Leibbrand's writings "unscientific". Leibbrand was unable to overcome his antagonisms with his contemporaries. At the same time, opposition to Ackerknecht made him appear a respresentative of the past in the eyes of the younger generation. Thus, when Foucault was accepted by the latter, they were not prepared to examine the work of Leibbrand and realize how close some of the ideas developed by Leibbrand and Foucault had been.

  4. Werner Heisenberg; Werner Heisenberg

    Energy Technology Data Exchange (ETDEWEB)

    Schiemann, G.

    2008-07-01

    This book contains a biography of Heisenberg, a description of the development of quantum mechanics, a consideration of connections of philosophy and physics, and a description of the scientific picture of the world. Finally a list of books written by Heisenberg respectively connected with his work is presented. (HSI)

  5. Frequency of Werner helicase 1367 polymorphism and age-related morbidity in an elderly Brazilian population

    Directory of Open Access Journals (Sweden)

    M.A.C. Smith

    2005-07-01

    Full Text Available Werner syndrome (WS is a premature aging disease caused by a mutation in the WRN gene. The gene was identified in 1996 and its product acts as a DNA helicase and exonuclease. Some specific WRN polymorphic variants were associated with increased risk for cardiovascular diseases. The identification of genetic polymorphisms as risk factors for complex diseases affecting older people can improve their prevention, diagnosis and prognosis. We investigated WRN codon 1367 polymorphism in 383 residents in a district of the city of São Paulo, who were enrolled in an Elderly Brazilian Longitudinal Study. Their mean age was 79.70 ± 5.32 years, ranging from 67 to 97. This population was composed of 262 females (68.4% and 121 males (31.6% of European (89.2%, Japanese (3.3%, Middle Eastern (1.81%, and mixed and/or other origins (5.7%. There are no studies concerning this polymorphism in Brazilian population. These subjects were evaluated clinically every two years. The major health problems and morbidities affecting this cohort were cardiovascular diseases (21.7%, hypertension (83.7%, diabetes (63.3%, obesity (41.23%, dementia (8.0%, depression (20.0%, and neoplasia (10.8%. Their prevalence is similar to some urban elderly Brazilian samples. DNA was isolated from blood cells, amplified by PCR and digested with PmaCI. Allele frequencies were 0.788 for the cysteine and 0.211 for the arginine. Genotype distributions were within that expected for the Hardy-Weinberg equilibrium. Female gender was associated with hypertension and obesity. Logistic regression analysis did not detect significant association between the polymorphism and morbidity. These findings confirm those from Europeans and differ from Japanese population.

  6. On the Work of the German-American Artist Werner Klotz

    DEFF Research Database (Denmark)

    Kacunko, Slavko

    2010-01-01

    A closer look is a must if we want to begin to appreciate the reflecting material and reflexive effect of German-American artist Werner Klotz’s array of Wahrnehmungsinstrumenten – his Instruments of Perception from today’s standpoint, better still one taken a step aside from the exploding Art...... of Exhibiting currently vying so with the media’s thirst for sensation. The aesthetic appeal of the Instruments of Perception is undeniable. They are ‘catoptric’ objects created as much with the viewing of their environment in mind as with the aim of being viewed themselves. It is interesting now...... as it was interesting then, to observe how in Werner Klotz’s oeuvre, following an artistic logic, they entered into a symbiosis with the closed-circuit video installations but have ultimately left that stage to today’s world-wide Public Art. Especially in his current public installations and projects, Werner Klotz...

  7. Generation of Werner-like stationary states of two qubits in a thermal reservoir

    International Nuclear Information System (INIS)

    Jakobczyk, Lech

    2010-01-01

    The dynamics of entanglement between two-level atoms immersed in the common photon reservoir at finite temperature is investigated. It is shown that in the regime of strong correlations there are nontrivial asymptotic states which can be interpreted in terms of thermal generalization of Werner states.

  8. Generation of Werner-like stationary states of two qubits in a thermal reservoir

    Energy Technology Data Exchange (ETDEWEB)

    Jakobczyk, Lech, E-mail: ljak@ift.uni.wroc.p [Institute of Theoretical Physics, University of Wroclaw, Plac Maxa Borna 9, 50-204 Wroclaw (Poland)

    2010-01-14

    The dynamics of entanglement between two-level atoms immersed in the common photon reservoir at finite temperature is investigated. It is shown that in the regime of strong correlations there are nontrivial asymptotic states which can be interpreted in terms of thermal generalization of Werner states.

  9. Generation of Werner states and preservation of entanglement in a noisy environment

    Energy Technology Data Exchange (ETDEWEB)

    Jakobczyk, Lech [Institute of Theoretical Physics, University of Wroclaw, Pl. M. Borna 9, 50-204 Wroclaw (Poland)]. E-mail: ljak@ift.uni.wroc.pl; Jamroz, Anna [Institute of Theoretical Physics, University of Wroclaw, Pl. M. Borna 9, 50-204 Wroclaw (Poland)

    2005-12-05

    We study the influence of noisy environment on the evolution of two-atomic system in the presence of collective damping. Generation of Werner states as asymptotic stationary states of evolution is described. We also show that for some initial states the amount of entanglement is preserved during the evolution.

  10. Werner Jaeger's "Paideia" and His 'Third Humanism'

    Science.gov (United States)

    Horn, Christoph

    2018-01-01

    Werner Jaeger (1888-1961) was at his time the most brilliant and the most influential German classicist. His most important project was a tripartite study that he finally published under the title of "Paideia. Die Formung des griechischen Menschen" (1933-1947). "Paideia" was much more than a detailed scholarly book on pedagogy…

  11. Heinz Werner: His Life, Ideas, and Contributions to Developmental Psychology in the First Half of the 20th Century.

    Science.gov (United States)

    Ostler, Teresa

    2016-01-01

    The author provides an overview of Heinz Werner's life and contributions to the field of developmental psychology during the first half of the 20th century. She focuses on his early work in Vienna and Munich as well as his tenure at the Psychological Institute in Hamburg, up through the time when he became a named Professor in Psychology at Clark University. Recognized as one of the founders of developmental psychology, Heinz Werner worked in the areas of perceptual development, comparative psychology, and symbol formation. Versatile in rigorous experimental methodologies, and in observational and phenomenological methodologies, Werner's approach to development stood in contrast to other approaches of development, both past and current. For Werner, development was a heuristic, a way of looking at processes in a variety of domains, including ontogeny, phylogeny, microgenesis, biology, developmental psychopathology, neuropsychology, and comparative psychology. Werner viewed development as proceeding from a state of relative globality and lack of differentiation to a state of increasing differentiation, articulation, and hierarchical integration, but he also stressed that individuals can function at different developmental levels under different times and conditions. Werner's holistic, organismic, comparative, and contextual approach to development transcended interdisciplinary boundaries, allowing him to study the interrelatedness between thought, language, feeling, perception, and culture.

  12. Response to formal comment on Myhrvold (2016) submitted by Griebeler and Werner (2017).

    Science.gov (United States)

    Myhrvold, Nathan P

    2018-01-01

    Griebeler and Werner offer a formal comment on Myhrvold, 2016 defending the conclusions of Werner and Griebeler, 2014. Although the comment criticizes several aspects of methodology in Myhrvold, 2016, all three papers concur on a key conclusion: the metabolism of extant endotherms and ectotherms cannot be reliably classified using growth-rate allometry, because the growth rates of extant endotherms and ectotherms overlap. A key point of disagreement is that the 2014 paper concluded that despite this general case, one can nevertheless classify dinosaurs as ectotherms from their growth rate allometry. The 2014 conclusion is based on two factors: the assertion (made without any supporting arguments) that the comparison with dinosaurs must be restricted only to extant sauropsids, ignoring other vertebrate groups, and that extant sauropsid endotherm and ectotherm growth rates in a data set studied in the 2014 work do not overlap. The Griebeler and Werner formal comment presents their first arguments in support of the restriction proposition. In this response I show that this restriction is unsupported by established principles of phylogenetic comparison. In addition, I show that the data set studied in their 2014 work does show overlap, and that this is visible in one of its figures. I explain how either point effectively invalidates the conclusion of their 2014 paper. I also address the other methodological criticisms of Myhrvold 2016, and find them unsupported.

  13. Fragmentation inside atomic cooling haloes exposed to Lyman-Werner radiation

    Science.gov (United States)

    Regan, John A.; Downes, Turlough P.

    2018-04-01

    Supermassive stars born in pristine environments in the early Universe hold the promise of being the seeds for the supermassive black holes observed as high redshift quasars shortly after the epoch of reionisation. H2 suppression is thought to be crucial in order to negate normal Population III star formation and allow high accretion rates to drive the formation of supermassive stars. Only in the cases where vigorous fragmentation is avoided will a monolithic collapse be successful, giving rise to a single massive central object. We investigate the number of fragmentation sites formed in collapsing atomic cooling haloes subject to various levels of background Lyman-Werner flux. The background Lyman-Werner flux manipulates the chemical properties of the gas in the collapsing halo by destroying H2. We find that only when the collapsing gas cloud shifts from the molecular to the atomic cooling regime is the degree of fragmentation suppressed. In our particular case, we find that this occurs above a critical Lyman-Werner background of J ˜ 10 J21. The important criterion being the transition to the atomic cooling regime rather than the actual value of J, which will vary locally. Once the temperature of the gas exceeds T ≳ 104 K and the gas transitions to atomic line cooling, then vigorous fragmentation is strongly suppressed.

  14. Design of the central region in the Gustaf Werner cyclotron at the Uppsala university

    CERN Document Server

    Toprek, D; Lundstrom, B; Wessman, D

    2002-01-01

    This paper describes the design of the central region in the Gustaf Werner cyclotron for h=1, 2 and 3 modes of acceleration. The electric field distribution in the inflector and in the four acceleration gaps has been numerically calculated from an electric potential map produced by the program RELAX3D. The geometry of the central region has been tested with the computations of orbits carried out by means of the computer code CYCLONE. The optical properties of the spiral inflector and the central region were studied by using the programs CASINO and CYCLONE, respectively.

  15. Design of the central region in the Gustaf Werner cyclotron at the Uppsala university

    International Nuclear Information System (INIS)

    Toprek, Dragan; Reistad, Dag; Lundstrom, Bengt; Wessman, Dan

    2002-01-01

    This paper describes the design of the central region in the Gustaf Werner cyclotron for h=1, 2 and 3 modes of acceleration. The electric field distribution in the inflector and in the four acceleration gaps has been numerically calculated from an electric potential map produced by the program RELAX3D. The geometry of the central region has been tested with the computations of orbits carried out by means of the computer code CYCLONE. The optical properties of the spiral inflector and the central region were studied by using the programs CASINO and CYCLONE, respectively

  16. Involvement of Werner syndrome protein in MUTYH-mediated repair of oxidative DNA damage

    Czech Academy of Sciences Publication Activity Database

    Kanagaraj, R.; Parasuraman, P.; Mihaljevic, B.; van Loon, B.; Burdová, Kamila; König, C.; Furrer, A.; Bohr, V.A.; Hübscher, U.; Janscak, P.

    2012-01-01

    Roč. 40, č. 17 (2012), s. 8449-8459 ISSN 0305-1048 Grant - others:Swiss National Science Foundation(CH) 31003A-129747/1; Swiss National Science Foundation(CH) 3100-109312/2; Oncosuisse(CH) KLS-02344-02-2009; NIH(US) Z01-AG000726-17 Institutional research plan: CEZ:AV0Z50520514 Institutional support: RVO:68378050 Keywords : DNA repair * oxidative stress * MUTYH * WRN * Pol lambda Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 8.278, year: 2012

  17. Physical and functional interactions between Werner syndrome helicase and mismatch-repair initiation factors

    DEFF Research Database (Denmark)

    Saydam, Nurten; Kanagaraj, Radhakrishnan; Dietschy, Tobias

    2007-01-01

    is poorly understood. Here we show that WRN physically interacts with the MSH2/MSH6 (MutSalpha), MSH2/MSH3 (MutSbeta) and MLH1/PMS2 (MutLalpha) heterodimers that are involved in the initiation of mismatch repair (MMR) and the rejection of homeologous recombination. MutSalpha and MutSbeta can strongly...

  18. Alfred Werner

    Indian Academy of Sciences (India)

    Suppose we were to say, "Apple pie is in itself neither good nor bad; it is the way it is used that determines its value." ... There is nothing in the Sarnoff statement that will bear scrutiny, for it ignores the nature of the medium, of any and all media, in the true Narcissus style of one hypnotized by the amputation and extension of ...

  19. Un'estrema solitudine la vita e l'opera di Werner Heisenberg

    CERN Document Server

    Cassidy, David C

    1996-01-01

    Il genio di Werner Heisenberg attraversa l'orizzonte della fisica del nostro secolo come una meteora. Testimoniano della fecondità e dell'originalità del suo pensiero non solo il Nobel che gli fu assegnato a soli 32 anni, ma soprattutto i decisivi impulsi da lui dati alla fisica quantistica, alla teoria delle particelle elementari, alla teoria del nucleo. Si deve a Heisenberg quel "principio di indeterminazione" che ha rivoluzionato non solo il corso della fisica ma il modo di concepire la posizione dell'uomo nell'universo. L'interesse del libro, però, vuole andare oltre la fisica, giacché il curriculum del "ragazzo di campagna dei biondi capelli" rispecchia in forma emblematica l'ambiguo rapporto della scienza col potere.

  20. [Werner Catel--a protagonist in Nazi "pediatric euthanasia" and his post-war career].

    Science.gov (United States)

    Petersen, Hans-Christian; Zankel, Sönke

    2003-01-01

    This article deals with the biography of Werner Catel, a German paediatrician and protagonist of the Nazi programme for "euthanasia of children". Based on original research into recently discovered source materials, two aspects of Catel's life are considered. Firstly, Catel's attitude towards "euthanasia" is analysed. This analysis is not limited to the period of National Socialism, but focuses also on the phase before 1933 and especially on the era after 1945. Secondly, the authors explore Catel's academic career. What effects on his career in the later Federal Republic of Germany had his exposed role in the Nazi programme for "euthanasia of children"? In this context it is also examined how the Christian-Albrechts-University of Kiel/Germany, which employed Catel until 1960 in a leading position, judged the work of its former professor after his death.

  1. Rediscovery of Atelopus subornatus Werner, 1899 (Anura: Bufonidae), with a redescription of the tadpole.

    Science.gov (United States)

    Enciso-Calle, Maria Paula; Viuche-Lozano, Andres; Anganoy-Criollo, Marvin; Bernal, Manuel Hernando

    2017-11-06

    The Neotropical toads of the genus Atelopus are among the most imperiled of all amphibians (La Marca et al. 2005; Gonzalez-Maya et al. 2013; McCaffery et al. 2015). Nowadays, at least 90% of the 93 listed species are threatened and more than 77% are Critically Endangered (McCaffery et al. 2015; IUCN 2016). Colombia has 44 described species of Atelopus (Frost 2017), two of these are categorized as extinct (EX) by the IUCN (2016): A. ignescens and A. longirostris, although they were recently re-discovered in Ecuador (Tapia et al. 2017), 34 as critical endangered (CR), four as endangered (EN), two as vulnerable (VU), one species has data deficient (DD) and another one has not been evaluated. Atelopus subornatus Werner, 1899, is an endemic Colombian harlequin toad described from 2300 to 2800 m.a.s.l in the municipalities of Sibaté (Alto de Sibaté and Agua Bonita) and Fusagasuga (above Fusagasuga and Tierra Negra), in Cundinamarca (Fig. 1A), on the western flank from Cordillera Oriental of Colombia (Werner 1899; Lynch 1986; Lötters 1989, 1992). The last record of this species was in 1993 (Lötters 2005), and it currently is listed as Critically Endangered by the IUCN (2016). Herein, we report the rediscovery of A. subornatus at a new locality from Tolima, Colombia (Fig. 1A), and redescribe its tadpole. The determination of the species was based on comparisons with material deposited in the amphibian collection of the Instituto de Ciencias Naturales, Universidad Nacional de Colombia (ICN-UNAL) for all species of Atelopus reported from the same general area in Cundinamarca and relatively similar to A. subornatus. The specimens are housed in the Herpetological collection of the Tolima University (CZUT-A) and amphibian collection of ICN-UNAL.

  2. Hans Werner Richter - Wolfgang Borchert : zwei Schriftsteller im 2. Weltkrieg ; ihre Kriegseinsätze und die Umsetzung in Literatur

    OpenAIRE

    Brandes, Katrein

    2018-01-01

    Hans Werner Richter und Wolfgang Borchert, zwei der bekanntesten deutschen Nachkriegsschriftsteller, waren selbst auf erbittert umkämpften Schauplätzen des 2. Weltkrieges eingesetzt: Richter in Italien bei Cassino, Borchert an der Ostfront südlich Moskaus. Trotz der Auseinandersetzung mit ihren literarischen Zeugnissen aus dieser Zeit, wie Richters Roman „Die Geschlagenen“ und Borcherts Kurzgeschichten, ist die Frage nach ihrem eigenen Kriegserleben, nach Schuldbewusstsein und dem Niederschla...

  3. Parkinson's disease and the quest for preclinical diagnosis: an interview with Professor Werner Poewe.

    Science.gov (United States)

    Poewe, Werner

    2017-10-01

    Werner Poewe speaks to Laura Dormer, Editorial Director: Professor Werner Poewe is Professor of Neurology and Director of the Department of Neurology at Innsbruck Medical University in Innsbruck, Austria. He held a Residency in Clinical Neurology and Psychiatry at the University of Innsbruck, Austria, from 1977 to 1984. From 1984 to 1985 he teamed up with Gerald Stern and Andrew Lees as a British Council Research Fellow at University College and Middlesex Hospital's Medical School in London to perform clinical studies into levodopa-induced dystonia and pharmacokinetics of levodopa in naive versus L-Dopa treated Parkinson's disease. Following his return to Austria, he held a position as Senior Lecturer in the Department of Neurology at the University of Innsbruck (1986-1989) after which he took over as Professor of Neurology and Acting Director of the Department of Neurology at Virchow Hospital of the Free University of Berlin (1990-1994). Professor Poewe's main research interests in the field of movement disorders are focused on differential and early diagnosis of Parkinson's disease, its natural history and pharmacological treatment. He has been involved in the steering committees of numerous drug trials in different stages of Parkinson's disease for the past 20 years and has authored and coauthored more than 500 original articles and reviews in the field of movement disorders. Professor Poewe served as President of the Austrian Society of Neurology from 2002 to 2004 as well as President of the Austrian Parkinson's Disease Society from 1996 to 2009. He has been awarded honorary membership of the German Society of Neurology as well as the Japanese Society of Neurology. His awards include the Walther-Birkmayer-Prize of the Austrian PD Society, the Dingebauer-Prize of the German Neurological Society as well as the Research Excellence Award of Innsbruck Medical University. Professor Poewe served as President of the International Movement Disorder Society (MDS) from

  4. IAEA fifty years: more than just safeguards. Interview with Professor Werner Burkart

    International Nuclear Information System (INIS)

    Anon.

    2007-01-01

    Professor Werner Burkart, IAEA Deputy Director General and head of the Nuclear Sciences and Applications Division, comments upon matters associated with the fiftieth anniversary of the International Atomic Energy Agency (IAEA). The Agency was founded on July 29, 1957. Today it is a worldwide organization of the United Nations with 144 member countries and manifold duties in the field of nuclear power utilization. The mandate of IAEA is based on the 'Atoms for Peace' initiative, its essence being support of all member countries in the use of nuclear power as long as IAEA safeguards on the spot ensure that no military aims are pursued in those activities. The safeguards work serves to prevent military uses. IAEA recommendations for a global nuclear safety culture, the so-called Safety Standards, are employed by member countries as a basis of legislation and ordinances. The emerging renaissance of nuclear power will be accompanied by the IAEA especially with regard to the important aspects of harmonization, safeguards, safety, security, and readiness for emergencies. The interview took place in Vienna on September 20, 2007. The questions were asked by the President of the Swiss Nuclear Forum, Dr. Bruno Pellaud, former Deputy Director General of IAEA. (orig.)

  5. Sudden birth versus sudden death of entanglement for the extended Werner-like state in a dissipative environment

    International Nuclear Information System (INIS)

    Chuan-Jia, Shan; Tao, Chen; Ji-Bing, Liu; Wei-Wen, Cheng; Tang-Kun, Liu; Yan-Xia, Huang; Hong, Li

    2010-01-01

    In this paper, we investigate the dynamical behaviour of entanglement in terms of concurrence in a bipartite system subjected to an external magnetic field under the action of dissipative environments in the extended Werner-like initial state. The interesting phenomenon of entanglement sudden death as well as sudden birth appears during the evolution process. We analyse in detail the effect of the purity of the initial entangled state of two qubits via Heisenberg XY interaction on the apparition time of entanglement sudden death and entanglement sudden birth. Furthermore, the conditions on the conversion of entanglement sudden death and entanglement sudden birth can be generalized when the initial entangled state is not pure. In particular, a critical purity of the initial mixed entangled state exists, above which entanglement sudden birth vanishes while entanglement sudden death appears. It is also noticed that stable entanglement, which is independent of different initial states of the qubits (pure or mixed state), occurs even in the presence of decoherence. These results arising from the combination of the extended Werner-like initial state and dissipative environments suggest an approach to control and enhance the entanglement even after purity induced sudden birth, death and revival. (general)

  6. Doing justice to the political: the International Criminal Court in Uganda and Sudan: a reply to Sarah Nouwen and Wouter Werner

    NARCIS (Netherlands)

    Schotel, B.

    2011-01-01

    This article is a reaction to Sarah Nouwen and Wouter Werner, ‘Doing Justice to the Political. The International Criminal Court in Uganda and Sudan’, 21 EJIL (2010) 941. It takes issue with attempts to understand international law and particularly the workings of the International Criminal Court in

  7. Targeting Werner syndrome protein sensitizes U-2 OS osteosarcoma cells to selenium-induced DNA damage response and necrotic death

    DEFF Research Database (Denmark)

    Cheng, Wen-Hsing; Wu, Ryan T Y; Wu, Min

    2012-01-01

    to MSeA-induced necrotic death. Co-treatment with the ataxia-telangiectasia mutated (ATM) kinase inhibitor KU55933 desensitized the control shRNA cells, but not WRN shRNA cells, to MSeA treatment. WRN did not affect MSeA-induced ATM phosphorylation on Ser-1981 or H2A.X phosphorylation on Ser-139...

  8. Thermal entanglement and teleportation of a thermally mixed entangled state of a Heisenberg chain through a Werner state

    Institute of Scientific and Technical Information of China (English)

    Huang Li-Yuan; Fang Mao-Fa

    2008-01-01

    The thermal entanglement and teleportation of a thermally mixed entangled state of a two-qubit Heisenberg XXX chain under the Dzyaloshinski-Moriya (DM) anisotropic antisymmetric interaction through a noisy quantum channel given by a Werner state is investigated. The dependences of the thermal entanglement of the teleported state on the DM coupling constant, the temperature and the entanglement of the noisy quantum channel are studied in detail for both the ferromagnetic and the antiferromagnetic cases. The result shows that a minimum entanglement of the noisy quantum channel must be provided in order to realize the entanglement teleportation. The values of fidelity of the teleported state are also studied for these two cases. It is found that under certain conditions, we can transfer an initial state with a better fidelity than that for any classical communication protocol.

  9. Instrumental Neutron Activation Analysis applied to the study of chemical element accumulation in organs of Rhinella schneideri (Werner, 1894)

    Energy Technology Data Exchange (ETDEWEB)

    Bardini Junior, Claudiney; Fernandes, Elisabete A. de Nadai, E-mail: lis@cena.usp.br [Centro de Energia Nuclear na Agricultura (CENA/USP), Piracicaba, SP (Brazil); Santos, Katarine M. Barbosa; Silva Neto, Luiz J. da; Santos, Robson A. dos; Silva, Karolayne E.M.; França, Elvis J. de, E-mail: ejfranca@cnen.gov.br [Centro Regional de Ciências Nucleares do Nordeste (DIAMB/CRCN-NE/CNEN-PE), Recife, PE (Brazil). Div. de Monitoração Ambiental

    2017-07-01

    Instrumental Neutron Activation Analysis (INAA) is a multielementar technique with high sensitivity, and can be applied to study small samples. Therefore, this research proposes using the INAA for quantifying the accumulation of chemical elements in organs of anuran amphibians Rhinella schneideri (Werner, 1894). Male individuals were collected on areas with anthropogenic influence close to water resources on the campus of ESALQ/USP in 2009. The animals were sacrificed in a cold chamber and dissected to separate their kidneys, livers, lungs and skins. After cleaning, the organs were lyophilized and pulverized. Samples weighing from 200 to 500 mg were placed in polyethylene capsules to be irradiated. The INAA technique, based on the bombardment of samples with neutrons for the production of radionuclides, was applied using the Nuclear Research Reactor of the Nuclear and Energy Research Institute. Portions of certified reference materials were used to evaluate the quality of the analytical procedure. The mass fractions were quantified by the k0 method, and the results indicated differences among the As, Br, Co, Cr, Fe, Hg, Sc, Se and Zn concentrations in the analyzed organs. Therefore, it was possible to calculate the bioaccumulation indexes relative to these chemical elements for the species. In addition, it was possible to infer the contamination pathways: As, Br, Co, Cr and Se by ingestion and Co, Fe, Hg, Sc and Zn by contact, which corroborated the usage of R. schneideri anuran as a biomonitor of chemical elements. (author)

  10. ROVIBRATIONALLY RESOLVED DIRECT PHOTODISSOCIATION THROUGH THE LYMAN AND WERNER TRANSITIONS OF H2 FOR FUV/X-RAY-IRRADIATED ENVIRONMENTS

    International Nuclear Information System (INIS)

    Gay, C. D.; Porter, R. L.; Stancil, P. C.; Abel, N. P.; Ferland, G. J.; Shaw, G.; Van Hoof, P. A. M.; Williams, R. J. R.

    2012-01-01

    Using ab initio potential curves and dipole transition moments, cross-section calculations were performed for the direct continuum photodissociation of H 2 through the B 1 Σ + u 1 Σ + g (Lyman) and C 1 Π u 1 Σ + g (Werner) transitions. Partial cross-sections were obtained for wavelengths from 100 Å to the dissociation threshold between the upper electronic state and each of the 301 bound rovibrational levels v''J'' within the ground electronic state. The resulting cross-sections are incorporated into three representative classes of interstellar gas models: diffuse clouds, photon-dominated regions, and X-ray-dominated regions (XDRs). The models, which used the CLOUDY plasma/molecular spectra simulation code, demonstrate that direct photodissociation is comparable to fluorescent dissociation (or spontaneous radiative dissociation, the Solomon process) as an H 2 destruction mechanism in intense far-ultraviolet or X-ray-irradiated gas. In particular, changes in H 2 rotational column densities are found to be as large as 20% in the XDR model with the inclusion of direct photodissociation. The photodestruction rate from some high-lying rovibrational levels can be enhanced by pumping from H Lyβ due to a wavelength coincidence with cross-section resonances resulting from quasi-bound levels of the upper electronic states. Given the relatively large size of the photodissociation data set, a strategy is described to create truncated, but reliable, cross-section data consistent with the wavelength resolving power of typical observations.

  11. Instrumental Neutron Activation Analysis applied to the study of chemical element accumulation in organs of Rhinella schneideri (Werner, 1894)

    International Nuclear Information System (INIS)

    Bardini Junior, Claudiney; Fernandes, Elisabete A. de Nadai; Santos, Katarine M. Barbosa; Silva Neto, Luiz J. da; Santos, Robson A. dos; Silva, Karolayne E.M.; França, Elvis J. de

    2017-01-01

    Instrumental Neutron Activation Analysis (INAA) is a multielementar technique with high sensitivity, and can be applied to study small samples. Therefore, this research proposes using the INAA for quantifying the accumulation of chemical elements in organs of anuran amphibians Rhinella schneideri (Werner, 1894). Male individuals were collected on areas with anthropogenic influence close to water resources on the campus of ESALQ/USP in 2009. The animals were sacrificed in a cold chamber and dissected to separate their kidneys, livers, lungs and skins. After cleaning, the organs were lyophilized and pulverized. Samples weighing from 200 to 500 mg were placed in polyethylene capsules to be irradiated. The INAA technique, based on the bombardment of samples with neutrons for the production of radionuclides, was applied using the Nuclear Research Reactor of the Nuclear and Energy Research Institute. Portions of certified reference materials were used to evaluate the quality of the analytical procedure. The mass fractions were quantified by the k0 method, and the results indicated differences among the As, Br, Co, Cr, Fe, Hg, Sc, Se and Zn concentrations in the analyzed organs. Therefore, it was possible to calculate the bioaccumulation indexes relative to these chemical elements for the species. In addition, it was possible to infer the contamination pathways: As, Br, Co, Cr and Se by ingestion and Co, Fe, Hg, Sc and Zn by contact, which corroborated the usage of R. schneideri anuran as a biomonitor of chemical elements. (author)

  12. Bernard Lerer: recipient of the 2014 inaugural Werner Kalow Responsible Innovation Prize in Global Omics and Personalized Medicine (Pacific Rim Association for Clinical Pharmacogenetics).

    Science.gov (United States)

    Ozdemir, Vural; Endrenyi, Laszlo; Aynacıoğlu, Sükrü; Bragazzi, Nicola Luigi; Dandara, Collet; Dove, Edward S; Ferguson, Lynnette R; Geraci, Christy Jo; Hafen, Ernst; Kesim, Belgin Eroğlu; Kolker, Eugene; Lee, Edmund J D; Llerena, Adrian; Nacak, Muradiye; Shimoda, Kazutaka; Someya, Toshiyuki; Srivastava, Sanjeeva; Tomlinson, Brian; Vayena, Effy; Warnich, Louise; Yaşar, Umit

    2014-04-01

    This article announces the recipient of the 2014 inaugural Werner Kalow Responsible Innovation Prize in Global Omics and Personalized Medicine by the Pacific Rim Association for Clinical Pharmacogenetics (PRACP): Bernard Lerer, professor of psychiatry and director of the Biological Psychiatry Laboratory, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. The Werner Kalow Responsible Innovation Prize is given to an exceptional interdisciplinary scholar who has made highly innovative and enduring contributions to global omics science and personalized medicine, with both vertical and horizontal (transdisciplinary) impacts. The prize is established in memory of a beloved colleague, mentor, and friend, the late Professor Werner Kalow, who cultivated the idea and practice of pharmacogenetics in modern therapeutics commencing in the 1950s. PRACP, the prize's sponsor, is one of the longest standing learned societies in the Asia-Pacific region, and was founded by Kalow and colleagues more than two decades ago in the then-emerging field of pharmacogenetics. In announcing this inaugural prize and its winner, we seek to highlight the works of prize winner, Professor Lerer. Additionally, we contextualize the significance of the prize by recalling the life and works of Professor Kalow and providing a brief socio-technical history of the rise of pharmacogenetics and personalized medicine as a veritable form of 21(st) century scientific practice. The article also fills a void in previous social science analyses of pharmacogenetics, by bringing to the fore the works of Kalow from 1995 to 2008, when he presciently noted the rise of yet another field of postgenomics inquiry--pharmacoepigenetics--that railed against genetic determinism and underscored the temporal and spatial plasticity of genetic components of drug response, with invention of the repeated drug administration (RDA) method that estimates the dynamic heritabilities of drug response. The prize goes a long way

  13. [Die baltischen Lande im Zeitalter der Reformation und Konfessionalisierung : Livland, Estland, Ösel, Ingermanland, Kurland und Lettgallen : Stadt, Land und Konfession 1500-1721. Teil 4. Hrsg. von Matthias Asche, Werner Buchholtz und Anton Schindlin

    Index Scriptorium Estoniae

    Maasing, Madis, 1984-

    2013-01-01

    Arvustus: Die baltischen Lande im Zeitalter der Reformation und Konfessionalisierung : Livland, Estland, Ösel, Ingermanland, Kurland und Lettgallen : Stadt, Land und Konfession 1500-1721. Teil 4. (Katholisches Leben und Kirchenreform im Zeitalter der Glaubensspaltung, 72). Hrsg. von Matthias Asche, Werner Buchholtz und Anton Schindling. Verlag Aschendorff. Münster 2012

  14. [Matthias Asche, Werner Buchholz, Anton Schindling. Die baltischen Lande im Zeitalter der Reformation und Konfessionalisierung : Livland, Estland, Ösel, Ingermanland, Kurland und Lettgallen; Stadt, Land und Konfession 1500-1721. T. 1-3] / Axel von C

    Index Scriptorium Estoniae

    Campenhausen, Axel von

    2015-01-01

    Arvustus: Asche, Matthias, Bucholz, Werner, Achindling, Anton. (Hrsg.) Die baltischen Lande im Zeitalter der Reformation und Konfessionalisierung : Livland, Estland, Ösel, Ingermanland, Kurland und Lettgallen; Stadt, Land und Konfession 1500-1721. T. 1-3. Münster: Aschendorff Verlag 2009, 2010, 2011

  15. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  16. Parametric source of two-photon states with a tunable degree of entanglement and mixing: Experimental preparation of Werner states and maximally entangled mixed states

    International Nuclear Information System (INIS)

    Cinelli, C.; Di Nepi, G.; De Martini, F.; Barbieri, M.; Mataloni, P.

    2004-01-01

    A parametric source of polarization-entangled photon pairs with striking spatial characteristics is reported. The distribution of the output electromagnetic k modes excited by spontaneous parametric down-conversion and coupled to the output detectors can be very broad. Using these states realized over a full entanglement ring output distribution, the nonlocal properties of the generated entanglement have been tested by standard Bell measurements and by Ou-Mandel interferometry. A 'mode-patchwork' technique based on the quantum superposition principle is adopted to synthesize in a straightforward and reliable way any kind of mixed state, of large conceptual and technological interest in modern quantum information. Tunable Werner states and maximally entangled mixed states have indeed been created by this technique and investigated by quantum tomography. A study of the entropic and nonlocal properties of these states has been undertaken experimentally and theoretically, by a unifying variational approach

  17. Bernard Lerer: Recipient of the 2014 Inaugural Werner Kalow Responsible Innovation Prize in Global Omics and Personalized Medicine (Pacific Rim Association for Clinical Pharmacogenetics)

    Science.gov (United States)

    Aynacıoğlu, Şükrü; Bragazzi, Nicola Luigi; Dandara, Collet; Dove, Edward S.; Ferguson, Lynnette R.; Geraci, Christy Jo; Hafen, Ernst; Kesim, Belgin Eroğlu; Kolker, Eugene; Lee, Edmund J.D.; LLerena, Adrian; Nacak, Muradiye; Shimoda, Kazutaka; Someya, Toshiyuki; Srivastava, Sanjeeva; Tomlinson, Brian; Vayena, Effy; Warnich, Louise; Yaşar, Ümit

    2014-01-01

    Abstract This article announces the recipient of the 2014 inaugural Werner Kalow Responsible Innovation Prize in Global Omics and Personalized Medicine by the Pacific Rim Association for Clinical Pharmacogenetics (PRACP): Bernard Lerer, professor of psychiatry and director of the Biological Psychiatry Laboratory, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. The Werner Kalow Responsible Innovation Prize is given to an exceptional interdisciplinary scholar who has made highly innovative and enduring contributions to global omics science and personalized medicine, with both vertical and horizontal (transdisciplinary) impacts. The prize is established in memory of a beloved colleague, mentor, and friend, the late Professor Werner Kalow, who cultivated the idea and practice of pharmacogenetics in modern therapeutics commencing in the 1950s. PRACP, the prize's sponsor, is one of the longest standing learned societies in the Asia-Pacific region, and was founded by Kalow and colleagues more than two decades ago in the then-emerging field of pharmacogenetics. In announcing this inaugural prize and its winner, we seek to highlight the works of prize winner, Professor Lerer. Additionally, we contextualize the significance of the prize by recalling the life and works of Professor Kalow and providing a brief socio-technical history of the rise of pharmacogenetics and personalized medicine as a veritable form of 21st century scientific practice. The article also fills a void in previous social science analyses of pharmacogenetics, by bringing to the fore the works of Kalow from 1995 to 2008, when he presciently noted the rise of yet another field of postgenomics inquiry—pharmacoepigenetics—that railed against genetic determinism and underscored the temporal and spatial plasticity of genetic components of drug response, with invention of the repeated drug administration (RDA) method that estimates the dynamic heritabilities of drug response. The prize goes a

  18. The Great Detective, by Zach Dundas; Gender and the modern Sherlock Holmes, edited by Nadine Farghaly; and Sherlock Holmes, edited by Alex Werner [book review

    Directory of Open Access Journals (Sweden)

    Julia Knaus

    2017-03-01

    Full Text Available Review of: Zach Dundas. The Great Detective: The amazing rise and immortal life of Sherlock Holmes. Boston: Houghton Mifflin Harcourt, 2015, hardcover, $26 (336p, ISBN 978-0-544-21404-0, e-book $15.95 (2378 KB, ISBN 978-0-544-22020-1, ASIN B00LZ7GP6U. Nadine Farghaly, ed. Gender and the modern Sherlock Holmes: Essays on film and television adaptations since 2009. Jefferson, NC: McFarland, 2015, paperback, $35 (260p, ISBN 978-0-786-49459-0, e-book $9.99 (3353 KB, ISBN 978-1-4766-2281-1, ASIN B019WQQEY8. Alex Werner, ed. Sherlock Holmes: The man who never lived and will never die. London: Ebury Press, 2014, hardcover, £25 (256p, ISBN 978-0-09-195872-5, e-book £12.99, ISBN 978-1-47-350264-2.

  19. Herlyn–Werner–Wunderlich syndrome presenting with infertility: Role of MRI in diagnosis

    International Nuclear Information System (INIS)

    Ahmad, Zohra; Goyal, Ankur; Das, Chandan J; Deka, Dipika; Sharma, Raju

    2013-01-01

    Herlyn-Werner-Wunderlich syndrome (HWWS), characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis, is an uncommon combined Mullerian and mesonephric duct anomaly, and its presentation in adulthood is even rarer. We report here a 22-year-old female presenting with primary infertility where magnetic resonance imaging (MRI) suggested the diagnosis of HWWS with endometriosis. In a patient of infertility with endometriosis and unilateral renal agenesis, diagnosis of HWWS should be suspected and MRI is the investigation of choice for such anomalies

  20. Beals Syndrome

    Science.gov (United States)

    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  1. Microwave-assisted synthesis of 5-aminopyrazol-4-yl ketones and the p38(MAPK) inhibitor RO3201195 for study in Werner syndrome cells.

    Science.gov (United States)

    Bagley, Mark C; Davis, Terence; Dix, Matthew C; Murziani, Paola G S; Rokicki, Michal J; Kipling, David

    2008-07-01

    5-Aminopyrazol-4-yl ketones are prepared rapidly and efficiently using microwave dielectric heating from beta-ketonitriles by treatment with N,N'-diphenylformamidine followed by heterocyclocondensation by irradiation with a hydrazine. The inhibitory activity of RO3201195 prepared by this methodology was confirmed in hTERT-immortalized HCA2 and WS dermal fibroblasts at 200nM concentration, both by ELISA and immunoblot assay, and displays excellent kinase selectivity for p38alpha MAPK over the related stress-activated kinase JNK.

  2. Muusikamaailm : Hans Werner Henze sünnipäevaks. "Nibelungide sõrmus" ka Dresdenis. Simon Rattle juhatas Beethovenit. Uued teosed Elliott Carterilt. Echo Klassik 2001 / Priit Kuusk

    Index Scriptorium Estoniae

    Kuusk, Priit, 1938-

    2001-01-01

    Hans Werner Henze 75 sünnipäevapidustustest Saksamaal. R. Wagneri "Nibelungide sõrmus" lavastus Dresdenis. Berliini Filharmoonikute peadirigent Simon Rattle toob Berliini pidunädalate lõppmänguna Berliini Filharmooniasse mahuka Beethoveni tsükli. Detsembris 93 aastaseks saav USA helilooja Elliott Carter kirjutab ikka uusi tellimusteoseid ning tuleb ka ise esiettekandele. Deutsche Phono-Akademie andis Baden-Badenis kätte oma mainekad aasta-auhinnad Echo Klassik

  3. Cushing syndrome

    Science.gov (United States)

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

  4. LEOPARD syndrome

    Science.gov (United States)

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  5. The Berlin Mission Society and German linguistic roots of volkekunde: The background, training and Hamburg writings of Werner Eiselen, 1899-1924

    Directory of Open Access Journals (Sweden)

    Andrew Bank

    Full Text Available This article presents a case for the centrality of race and racism in the training and early ethnographic writings of Werner Eiselen (1899-1977. Together with further discussion in two other articles, it demonstrates that Eiselen was not the consolidator of the British functionalist anthropological tradition in South Africa nor a strong affiliate of the liberal school of African studies in South Africa as other scholars have proposed. On the contrary, he was the founder of a radically different ethnographic tradition: an anti-humanist and deeply racialised tradition of cultural study with its roots in Berlin Mission Society ideology and German Africanist linguistics. I track the origins of Eiselens volkekunde to his missionary background in a former Boer Republic, his Afrikaner nationalist schooling and university career, and especially to his training in African linguistics in Hamburg (and Berlin between 1921 and 1924 under the leading international figure in the field, the German linguist and ethnologist Carl Meinhof (1857-1944, whose racially informed theories and politics profoundly shaped Eiselen and the school of volkekunde that he would father during his decade-long tenure at Stellenbosch University.

  6. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  7. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  8. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

  9. [Werner Leibbrand, Annemarie Wettley and controversies on "euthanasia" the background of medico-historical and ethical debates in the Post World War II era].

    Science.gov (United States)

    Wiesinger, Christine; Frewer, Andreas

    2014-01-01

    Psychiatrists and medical historians Werner Leibbrand (1896 - 1974) and Annemarie Wettley (1913 - 1996) are amongst the most striking figures in the field of history of medicine. Leibbrand was appointed director of the "Heil- und Pflegeanstalt" in Erlangen shortly after the war. Fuelled by his own experiences of suppression and persecution during the Nazi era he promised to unearth the crimes and atrocities which had happened under watch of the Nazi regime. He was joined by Annemarie Wettley, who worked as a physician at the hospital and had developed an increasing interest in the history of medicine. In 1946 they published "Um die Menschenrechte der Geisteskranken" ("Human Rights of the Mentally Ill") about the "euthanasia" campaign of the Nazi regime. Although a number of substantial works followed, Leibbrand and Wettley failed to inform in more depth on crimes and atrocities, for instance killings of patients and forced malnutrition. Doubts and charges against Wettley regarding her role in dietary programmes at the Erlangen hospital and against Leibbrand regarding special expert's reports--both had a short-term arrest warrant--might have contributed to stagnation in their efforts. In 1953 Leibbrand accepted the offer of a chair at the University in Munich, Wettley followed and habilitated in history of medicine; in the year 1962 they married. Contacts and exchange amongst medico-historical experts shed light on developments during the post-war era; still, a critical and fundamental review of the crimes within the medical system of the Nazi regime did not take place during this time.

  10. Werner Heisenberg. The language of the atoms. Life and work - a scientific biography - the ''joyous science'' (youth until Nobel price); Werner Heisenberg. Die Sprache der Atome. Leben und Wirken - Eine wissenschaftliche Biographie - Die ''froehliche Wissenschaft'' (Jugend bis Nobelpreis)

    Energy Technology Data Exchange (ETDEWEB)

    Rechenberg, Helmut [MPI fuer Physik, Muenchen (Germany). Werner-Heisenberg-Institut

    2010-07-01

    With his discovery that measuring values of complementary fundamental quantities in the microscopic world cannot by arbitrarily precisely determined cutted Werner Heisenberg the Gordian knot for the finishing of quantum theory developed by Planck, Einstein, and others and opened by this a new ''golden era'' in the physics of the 20th century. On the base of the documents from his life and work, i. e. deeds, letters and reports of contemporaries, as well as the published and unpublished essays, books, and articles of Heisenberg - also the later on found, publications or manuscripts mainly coming from the inheritance - resulted this systematic biography of Heisenberg. The author, the last doctoral candidate of Heisenberg relied furthermore on factual and personal knowledges, mainly own remembrances on his doctoral father and his teachers, colleagues, and students. Because of the interest of an authentical biography of the theoretical physicist Heisenberg the presentation of the mathematical approaches and the corresponding derivations could not completely be abandoned. This biography appeals by this both to a scientifically cultivated as a wider in science interested audience and covers the first phase of Heisenberg's life until his Nobel price 1933. [German] Mit seiner Entdeckung, dass sich Messwerte komplementaerer Groessen in der mikroskopischen Welt nicht beliebig genau bestimmen lassen, durchschnitt Werner Heisenberg den Gordischen Knoten zur Vollendung der von Planck, Einstein und anderen entwickelten Quantentheorie und eroeffnete damit ein neues ''goldenes Zeitalter'' in der Physik des 20. Jahrhunderts. Auf der Grundlage der Dokumente aus seinem Leben und Wirken, d.h. der Urkunden, Briefe und Berichte von Zeitzeugen sowie der publizierten und unpublizierten Abhandlungen, Buecher und Artikel Heisenbergs - auch der spaeter aufgefundenen, ueberwiegend aus dem Nachlass Heisenbergs stammenden Veroeffentlichungen oder

  11. Marfan Syndrome

    Science.gov (United States)

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

  12. Aarskog syndrome

    Science.gov (United States)

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  13. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  14. Cushing's Syndrome

    OpenAIRE

    宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

    2003-01-01

    Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

  15. Tourette syndrome

    Science.gov (United States)

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

  16. Hepatorenal syndrome

    Science.gov (United States)

    ... 2016:chap 153. Nevah MI, Fallon MB. Hepatic encephalopathy, hepatorenal syndrome, hepatopulmonary syndrome, and other systemic complications of liver disease. In: Feldman M, Friedman LS, Brandt LJ, ...

  17. Participants in the “Schweizer Jugendforscht’” projects at CERN under the supervision of Günther Dissertori, professor at the Swiss Federal Institute of Technology (ETH Zürich) and other members of ETH Zürich, Werner Lustermann and Michael Dittmar.

    CERN Multimedia

    2005-01-01

    Participants in the “Schweizer Jugendforscht’” projects at CERN under the supervision of Günther Dissertori, professor at the Swiss Federal Institute of Technology (ETH Zürich) and other members of ETH Zürich, Werner Lustermann and Michael Dittmar.

  18. Cushing's Syndrome

    Science.gov (United States)

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

  19. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  20. Metabolic Syndrome

    Science.gov (United States)

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

  1. Reye Syndrome

    Science.gov (United States)

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  2. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  3. Caplan syndrome

    Science.gov (United States)

    ... enable JavaScript. Rheumatoid pneumoconiosis (RP; also known as Caplan syndrome) is swelling (inflammation) and scarring of the ... avoid exposure to inorganic dust. Alternative Names RP; Caplan syndrome; Pneumoconiosis - rheumatoid; Silicosis - rheumatoid pneumoconiosis; Coal worker's ...

  4. Turner Syndrome

    Science.gov (United States)

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

  5. Gardner's syndrome

    International Nuclear Information System (INIS)

    Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.

    1988-01-01

    A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

  6. Sotos Syndrome

    Science.gov (United States)

    ... Clinical Trials Organizations Publications Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ... have also been reported. × Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ...

  7. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  8. Bartter syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000308.htm Bartter syndrome To use the sharing features on this page, please enable JavaScript. Bartter syndrome is a group of rare conditions that affect ...

  9. Pendred Syndrome

    Science.gov (United States)

    ... other possible long-term consequences of the syndrome. Children with Pendred syndrome should start early treatment to gain communication skills, such as learning sign language or cued speech or learning to ...

  10. Dravet Syndrome

    Science.gov (United States)

    ... and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related ... Publications Definition Dravet ...

  11. Down Syndrome

    Science.gov (United States)

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  12. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

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

  13. Aicardi Syndrome

    Science.gov (United States)

    ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

  14. Dravets syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  15. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

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

  16. Refeeding syndrome

    OpenAIRE

    Tripathy, Swagata; Mishra, Padmini; Dash, S. C.

    2008-01-01

    Refeeding syndrome is a potentially fatal medical condition that may affect malnourished patients in response to an inappropriately rapid overfeeding. This commonly occurs following the institution of nutritional support, especially parenteral or enteral nutrition. The most characteristic pathophysiology of refeeding syndrome relates to the rapid consumption of phosphate after glucose intake and subsequent hypophosphatemia. Refeeding syndrome can manifest as either metabolic changes (hypokala...

  17. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

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

  18. Reye's Syndrome

    Science.gov (United States)

    ... that contain aspirin. Some hospitals and medical facilities conduct newborn screenings for fatty acid oxidation disorders to determine which children are at greater risk of developing Reye's syndrome. ...

  19. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

  20. Learning about Marfan Syndrome

    Science.gov (United States)

    ... Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most common inherited ... FAQ Top of page Additional Resources For Marfan Syndrome Marfan syndrome [nlm.nih.gov] From Medline Plus Marfan ...

  1. Russell-Silver syndrome

    Science.gov (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  2. What Is Usher Syndrome?

    Science.gov (United States)

    ... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...

  3. Seckel syndrome: an overdiagnosed syndrome.

    OpenAIRE

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There r...

  4. Burnout Syndrome

    OpenAIRE

    Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

    2013-01-01

    Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

  5. Tourette Syndrome

    Science.gov (United States)

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

  6. Fahr's Syndrome

    Science.gov (United States)

    ... or 50s, although it can occur at any time in childhood or adolescence. × Definition Fahr's Syndrome is a rare, genetically dominant, inherited ... or 50s, although it can occur at any time in childhood or adolescence. View Full Definition Treatment There is no cure for Fahr's Syndrome, ...

  7. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

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

  8. Ambras syndrome

    Directory of Open Access Journals (Sweden)

    Sudhir Malwade

    2015-01-01

    Full Text Available Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history.

  9. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

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

    2002-01-01

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

  10. Noonan syndrome

    OpenAIRE

    Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

    2013-01-01

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid ris...

  11. TAFRO Syndrome.

    Science.gov (United States)

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. [Two traditions in the scientific learning of the world. A case study of creation and reception of quantum mechanics over the period 1925-1927, on the bases of discussion between Werner Heisenberg and Albert Einstein].

    Science.gov (United States)

    Krajniak, Wiktor

    2014-01-01

    The purpose of this article is the analyses of discussion between Albert Einstein and Werner Heisenberg in the period 1925-1927. Their disputes, relating to the sources of scientific knowledge, its methods and the value of knowledge acquired in this way, are part of the characteristic for the European science discourse between rationalism and empirism. On the basis of some sources and literature on the subject, the epistemological positions of both scholars in the period were reconstructed. This episode, yet poorly known, is a unique example of scientific disputes, whose range covers a broad spectrum of methodological problems associated with the historical development of science. The conducted analysis sheds some light on the source of popularity of logical empirism in the first half of the 20th century. A particular emphasis is placed on the impact of the neopositivist ideas which reflect Heisenberg's research program, being the starting point for the Copenhagen interpretation of quantum mechanics. The main assumption of logical empirism, concerning acquisition of scientific knowledge only by means of empirical procedures and logical analysis of the language of science, in view of the voiced by Einstein arguments, bears little relationship with actual testing practices in the historical aspect of the development of science. The criticism of Heisenberg's program, carried out by Einstein, provided arguments for the main critics of the neopositivist ideal and contributed to the bankruptcy of the idea of logical empirism, thereby starting a period of critical rationalism prosperity, arising from criticism of neopositivism and alluding to Einstein's ideas.

  13. Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Neeraj Sharma

    2013-01-01

    Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

  14. Cowden syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Prakash S

    2010-01-01

    Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

  15. Costello syndrome

    Directory of Open Access Journals (Sweden)

    Madhukara J

    2007-01-01

    Full Text Available Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

  16. Reye Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now What Is Reye’s Syndrome? ...

  17. Alagille Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now Alagille Syndrome Back Alagille ...

  18. Turner Syndrome

    Science.gov (United States)

    ... Failure to begin sexual changes expected during puberty Sexual development that "stalls" during teenage years Early end to menstrual cycles not due to pregnancy For most women with Turner syndrome, inability to ...

  19. [Refeeding syndrome].

    Science.gov (United States)

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

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

  20. Cockayne syndrome

    DEFF Research Database (Denmark)

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

    2017-01-01

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

  1. Alagille Syndrome

    Science.gov (United States)

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  2. Reye Syndrome

    Science.gov (United States)

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  3. Turner Syndrome

    Science.gov (United States)

    ... crowding, and osteoporosis (brittle bones). Because of their physical conditions, health concerns, and infertility, some girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? Physical features may ...

  4. Cushing's Syndrome

    Science.gov (United States)

    ... person cured of Cushing’s syndrome might have some memory loss and slight mental decline. But the change is ... Categories: Family Health, Infants and Toddlers, Kids and Teens, Men, Seniors, WomenTags: acth, adenomas, hormone, sickness September ...

  5. Levator Syndrome

    Science.gov (United States)

    ... Abscess Anorectal Fistula Foreign Objects in the Rectum Hemorrhoids Levator Syndrome Pilonidal Disease Proctitis Rectal Prolapse (See ... out other painful rectal conditions (such as thrombosed hemorrhoids , fissures , or abscesses ). The physical examination is often ...

  6. Alport Syndrome

    Science.gov (United States)

    ... signs and symptoms may differ, based on age, gender and inherited type of Alport syndrome. For example, ... prevention and treatment of kidney disease. The Better Business Bureau Wise Giving Alliance Charity Seal provides the ...

  7. Gilbert's Syndrome

    Science.gov (United States)

    ... not know you have the condition until it's discovered by accident, such as when a blood test ... chemotherapy drug Some protease inhibitors used to treat HIV If you have Gilbert's syndrome, talk to your ...

  8. Potter syndrome

    Science.gov (United States)

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  9. Moebius Syndrome

    Science.gov (United States)

    ... delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such ...

  10. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of...

  11. Angelman Syndrome

    Science.gov (United States)

    ... therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential. × Treatment There ...

  12. Joubert Syndrome

    Science.gov (United States)

    ... CEP290 . View Full Definition Treatment Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing ...

  13. Zellweger Syndrome

    Science.gov (United States)

    ... swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur. Treatment There is no cure for Zellweger syndrome, nor ...

  14. Nephrotic Syndrome

    Science.gov (United States)

    ... your blood — typically with an artificial kidney machine (dialyzer). Chronic kidney disease. Nephrotic syndrome may cause your ... opportunities Reprint Permissions A single copy of these materials may be reprinted for noncommercial personal use only. " ...

  15. Ohtahara Syndrome

    Science.gov (United States)

    ... are more often affected than girls. View Full Definition Treatment Antiepileptic drugs are used to control seizures, but are unfortunately ... Other therapies are symptomatic and supportive. × ... Definition Ohtahara syndrome is a neurological disorder characterized by ...

  16. Usher Syndrome

    Science.gov (United States)

    ... to abnormal development of the vestibular hair cells, sensory cells that detect gravity and head movement. RP ... 3 Ben-Rebeh, I., et al. (2016). Genetic analysis of Tunisian families with Usher syndrome type 1: ...

  17. Eagle's Syndrome

    OpenAIRE

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

    2013-01-01

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

  18. Barth Syndrome

    DEFF Research Database (Denmark)

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

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart......, liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated...

  19. Pendred's syndrome

    International Nuclear Information System (INIS)

    Hashmi, M.I.; Cheema, I.A.; Qasim, G.

    2003-01-01

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  20. [Poland's syndrome].

    Science.gov (United States)

    Slezak, R; Sasiadek, M

    2000-08-01

    Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

  1. What is Metabolic Syndrome?

    Science.gov (United States)

    ... Intramural Research Home / Metabolic Syndrome Metabolic Syndrome Also known as What Is Metabolic syndrome ... metabolic risk factors to be diagnosed with metabolic syndrome. Metabolic Risk Factors A Large Waistline Having a large ...

  2. Loeys-Dietz Syndrome

    Science.gov (United States)

    ... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

  3. Milk-alkali syndrome

    Science.gov (United States)

    Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium carbonate. Calcium ...

  4. Exogenous Cushing syndrome

    Science.gov (United States)

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

  5. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  6. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

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

  7. Nevoid basal cell carcinoma syndrome

    Science.gov (United States)

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic ... syndrome is known as PTCH ("patched"). The gene is passed down ...

  8. Nutcracker syndrome

    International Nuclear Information System (INIS)

    Jolley, Ingrid

    2014-01-01

    Purpose: The purpose of this case study is to highlight the symptoms of the Nutcracker Syndrome (NCS), the methods of clinical investigations and the importance of differential diagnosis. Introduction: The NCS refers to left renal vein entrapment caused by abnormal branching patterns of the superior mesenteric artery from the aorta. 1,2 Clinical case presentation: A 27 years old female presented to the emergency department with complaints of abdominal discomfort, bloating, loose bowel motions and irregular micro-haematuria. The radiologist's report indicated the findings from computed tomography examination to be consistent with anterior NCS. Discussion: In most of the NCS cases the clinical symptoms are non-specific. 3 The syndrome is caused by a vascular disorder, but its clinical manifestation can relate to a wide range of abdominal, urological, endovascular or gynaecological pathologies. 4 Conclusion: Nutcracker Syndrome is a relatively rare disease and underdiagnosed may lead to left renal vein thrombosis

  9. Compartment syndromes

    Science.gov (United States)

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

    1989-01-01

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

  10. Usher Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Fakin

    2012-06-01

    Full Text Available Usher syndrome is an autosomal recessive disease with prevalence of 3–6/100.000 and is the most common syndrome that affects vision and hearing. Three subtypes are distinguished on the basis of different degree of hearing loss. All patients develop retinitis pigmentosa with night vision difficulties and constriction of visual field, and ultimately a decline in visual acuity and color vision. Future holds promise for gene therapy. We present a patient with typical clinical picture of Usher syndrome, who started noticing night vision problems at age 13. At age 25 he was operated on for posterior cortical cataracts. At age 34 he has only 5–10° of visual field remaining with 1.0 visual acuity in both eyes. Fundus autofluorescence imaging revealed a typical hyperautofluorescent ring on the border between normal and affected retina.

  11. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci

    2010-10-01

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

  12. Eagle's Syndrome

    Science.gov (United States)

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

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT) of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical. PMID:25992033

  13. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

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

  14. Rapunzel syndrome

    International Nuclear Information System (INIS)

    Al-Wadan, Ali H.; Al-Saai, Azan S.; Abdoulgafour, Mohamed; Al-Absi, Mohamed

    2006-01-01

    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  15. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

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

  16. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

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

  17. Eagle syndrome

    International Nuclear Information System (INIS)

    Raina, Deepika; Gothi, Rajesh; Rajan, Sriram

    2009-01-01

    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  18. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

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

  19. Fenton's syndrome

    International Nuclear Information System (INIS)

    Rimondi, E.; Albasini, V.

    1989-01-01

    The authors report two recent cases of Fenton's syndrome, a very rare carpal fracture-dislocation. After some anatomophysiopathological considerations and a review of the literature, a wider nosographic frame is proposed in which the entity of the dislocation of the head of capitate bone is not essential. According to both the literature and personal findings, the authors remark that this syndrome is always found in the presence of two morphological variants of the distal radioulnar joint. Finally, the authors stress the importance of a corect diagnosis of this lesion to avoid unnecessary attempts of reduction

  20. Reiter's Syndrome.

    Science.gov (United States)

    Savant, S S; Fernandez, J C; Dhurandhar, M W; Fernandez, R J

    1979-01-01

    A case of Reiter's syndrome occurring in a young mate aged 20 years having extensive skin lesions of keratoderina blenoffhagica is presented along with a review of literature. Although urethritis was absent, other clinical and histopathological features of the cutaneous lesions led us to the diagnosis. The-possible relationship of postural psoriasis to Reiter's syndrome is discussed. Failure of the patient to respond satisfactorily to steroids, antibiotics etc, prompted the use of rnethotrexate in the case. The result was dramatic, as the patient completely recovered within ten days of starting treatment.

  1. Larsen syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Mahbubul Islam

    2016-08-01

    Full Text Available Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients. 

  2. Joubert syndrome

    International Nuclear Information System (INIS)

    Villanua, J.A.; Lopez, J.M.; Recondo, J.A.; Garcia, J.M.; Gaztanaga, R.

    1998-01-01

    Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs

  3. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

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

  4. Meigs' Syndrome

    International Nuclear Information System (INIS)

    Baloch, S.; Khaskheli, M.; Farooq, S.

    2006-01-01

    Meigs' syndrome is a rare clinical condition commonly considered to be associated with malignant ovarian tumour. A case of unmarried female is presented who came with a slowly increasing abdominal mass. Clinical and ultrasonic investigations revealed a mobile, solid right adenexal tumour in the lower abdomen, along with ascites and pleural effusion of the right lung. The level of CA 125 was also raised. Diagnosis of Meigs' syndrome was confirmed after surgical intervention. The tumour was successfully removed and pleural effusion disappeared 15 days after the intervention. Cytomorphologic study of both the tumour and ascitic fluid was negative for malignancy. (author)

  5. [Elsberg syndrome].

    Science.gov (United States)

    Nielsen, Kristine Esbjerg; Knudsen, Troels Bygum

    2013-12-16

    A syndrome involving acute urinary retention in combination with sacral radiculitis and cerebrospinal fluid pleocytosis was first described by the American neurosurgeon Charles Elsberg in 1931. In many instances the aetiology is herpes simplex virus type 2 (HSV-2) reactivation from sensory neurons. In this case report we present a 34-year-old pregnant woman with previous undiagnosed sensory lumbosacral symptoms. She was hospitalized with HSV-2 meningitis and lumbosacral radiculitis but no genital rash. A week after the onset of symptoms she developed acute urinary retention, thus indicating Elsberg syndrome.

  6. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

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

    2009-01-01

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

  7. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and/or ...... LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician.......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium...

  8. Sjogren syndrome

    NARCIS (Netherlands)

    Brito-Zeron, Pilar; Baldini, Chiara; Bootsma, Hendrika; Bowman, Simon J.; Jonsson, Roland; Mariette, Xavier; Sivils, Kathy; Theander, Elke; Tzioufas, Athanasios; Ramos-Casals, Manuel

    2016-01-01

    Sjogren syndrome (SjS) is a systemic autoimmune disease that primarily affects the exocrine glands (mainly the salivary and lacrimal glands) and results in the severe dryness of mucosal surfaces, principally in the mouth and eyes. This disease predominantly affects middle-aged women, but can also be

  9. Rett Syndrome

    Science.gov (United States)

    ... loss of interest in normal play Delayed speech development or loss of previously acquired speech abilities Problem behavior or marked mood swings Any clear loss of previously gained milestones in gross motor or fine motor skills Causes Rett syndrome is a rare genetic disorder. ...

  10. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

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

  11. Piriformis Syndrome

    Science.gov (United States)

    ... can usually resume their normal activities. In some cases, exercise regimens may need to be modified in order to reduce the likelihood of recurrence or worsening. Clinical Trials Throughout the U.S. ... Definition Piriformis syndrome is a rare neuromuscular disorder that ...

  12. Hellp syndrome

    International Nuclear Information System (INIS)

    Chaudhry, A.A.

    2002-01-01

    A 24 years old female presented with hypertension, haemolysis, elevated liver enzymes and thrombocytopenia in an unconscious state after undergoing an emergency caesarian section. A diagnosis of HELLP syndrome was made on the above findings. Patient made an uneventful recovery with conservative management. A brief review of the literature is included along with the case report. (author)

  13. Kartagener's Syndrome.

    Science.gov (United States)

    Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J

    2009-01-01

    Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.

  14. Carraro syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wendler, H.; Schwarz, R.

    1980-07-01

    The report concerns a girl aged 9 1/2 years who was deaf and dumb and had marked shortening of the calves with deformities of the feet and bilateral, congenital hypoplasia of the tibiae. This syndrome was first described by Carraro in 1931, but there have been no further reports since then.

  15. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

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

  16. Alagille Syndrome

    Science.gov (United States)

    ... 3] Kamath BM, Loomes KM, Piccoli DA. Medical management of Alagille syndrome. Journal of Pediatric Gastroenterology and Nutrition. 2010;50(6): ... 30 a.m. to 5 p.m. eastern time, M-F Follow Us NIH… Turning Discovery Into ... Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

  17. Kounis syndrome

    African Journals Online (AJOL)

    neoplastic agents), exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome com prises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital ...

  18. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

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

  19. Crest syndrome

    International Nuclear Information System (INIS)

    Koch, B.; Roedl, W.

    1988-01-01

    If a patient has peri- and intra-articular calcinosis, as well as acro-osteolysis and esophageal hypomotility, and rheumatic symptoms, Crest syndrome should be considered as a manifestation of progressive systemic sclerosis. In connection with relevant symptoms on the skin and visceral involvement, radiological studies offer the possibility of classifying progressive systemic sclerosis more accurately. (orig.) [de

  20. Gitelman syndrome.

    NARCIS (Netherlands)

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

    2008-01-01

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

  1. Marfan Syndrome

    Science.gov (United States)

    ... can treat many of its symptoms. Thanks to new research and treatments, people with Marfan syndrome who are diagnosed early ... This helps doctors stay on top of any new problems. Doctors might also ... or kids with amblyopia or strabismus will probably need to wear glasses. ...

  2. Kartagener's Syndrome

    African Journals Online (AJOL)

    GB

    presenting with recurrent upper and lower respiratory tract infections, sinusitis or bronchiectasis. Inability to diagnose this condition may subject the patient to unnecessary and repeated hospital admissions, investigations and treatment failure. KEY WORDS: Kartagener's syndrome, primary cilliary dyskinesia, situs inversus, ...

  3. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Ebru Yilmaz

    2014-06-01

    Full Text Available Hepatorenal syndrome (HRS is functional renal failure that occurs with advanced liver failure. HRS is considered the most severe complication of cirrhosis. Type 1 HRS develops due to severe reduction of effective circulating volume results in hemodynamic dysfunction. Type 1 HRS is characterized by acute renal failure and rapid deterioration in the function of other organs. It can ocur spontaneously or in the setting of a precipitating event. Type 2 hepatorenal syndrome (HRS, which is characterized by slowly progressive renal failure and refractory ascites. Liver transplantation is the only definitive treatment for both type. The most suitable and ldquo;bridge treatments and rdquo; or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. [J Contemp Med 2014; 4(2.000: 106-113

  4. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  5. Apert syndrome

    Directory of Open Access Journals (Sweden)

    Premalatha

    2010-01-01

    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  6. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  7. Paraneoplastiske syndromer

    OpenAIRE

    Røsbekk, Stein Helge

    2007-01-01

    During the last 50 years it has become clear that malignant tumours can induce symptoms unrelated to the mechanical effects of the primary tumour itself or its metastasis. Today, the name Paraneoplastic syndrome is given to those symptom complexes that may affect the blood cells, electrolytes, coagulation system, muscle, skin, nerve and the endocrine system. Endocrine symptoms were first recognised, and different hormones were isolated from the tumour tissue. However, tumour derived hormones ...

  8. Caroli's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Numan, F; Cokyueksel, O; Camuscu, S; Demir, K; Dueren, M

    1986-07-01

    In 1958 Caroli described the syndrome of congenital, either segmental or involving the entire bile duct system, saccular extensions of the intrahepatic bile ducts. He differentiated between two types of this disease pattern. The first form concerns pure cystic dilatations of the intrahepatic bile ducts, whereas the second one is combined with hepatic fibrosis and portal hypertension. Both types are characterised by cystic dilatations in the kidneys and in the extrahepatic bile ducts, pancreas and spleen.

  9. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  10. Waardenburg syndrome

    OpenAIRE

    Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

    2004-01-01

    We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of ...

  11. [PHACES syndrome].

    Science.gov (United States)

    Morcillo Azcárate, J; Bernabeu-Wittel, J; Fernández-Pineda, I; Conejo-Mir, M D; Tuduri Limousin, I; Aspiazu Salinas, D A; de Agustín Asensio, J C

    2010-04-01

    PHACES syndrome associates a segmental facial hemangioma with cerebral malformations, aortic branches/cranial arteries anomalies, cardiac defects, eye anomalies or ventral wall defects. The aim of this study is to analyze our experience with this syndrome. Retrospective study of the cases seen at our unit in the last year. We treat 4 cases; 3 girls and 1 child. Besides the segmental hemangioma they presented: 3 vascular cerebral malformations; 2 structural cardiopathies; 2 cerebral malformations, 1 microftalmia. We did not find ventral wall defects. A case received treatment with two cycles of metilprednisolone i.v. and oral prednisone, with favourable course; two cases received initial treatment with oral prednisone continued of oral propanolol in rising pattern up to 2 mg/kg/day, Obtaining both the detention of the tumour growth and regression of the lesion, with very good tolerance. A 7-year-old patient has been treated with colouring pulse laser for her residual lesions. When we see a segmental facial hemangioma we must perform a wide diagnostic study in order to discard a PHACES syndrome. Multidisciplinar approach to the patient by a wide expert's group gets an earlier diagnose and improves the outcome. Propranolol is a promising therapeutic alternative.

  12. Anserine syndrome.

    Science.gov (United States)

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

    Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder.

  13. Neonatal respiratory distress syndrome

    Science.gov (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs ...

  14. Toxic shock syndrome

    Science.gov (United States)

    Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

  15. Prune belly syndrome

    Science.gov (United States)

    Eagle-Barrett syndrome; Triad syndrome ... The exact causes of prune belly syndrome are unknown. The condition affects mostly boys. While in the womb, the developing baby's abdomen swells with fluid. Often, the cause is ...

  16. What Causes Cushing's Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Cushing syndrome? Cushing syndrome can develop for two reasons: Medication ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain controls ...

  17. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...

  18. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

    ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome , which are caused by mutations in related genes. ...

  19. Acute nephritic syndrome

    Science.gov (United States)

    Glomerulonephritis - acute; Acute glomerulonephritis; Nephritis syndrome - acute ... Acute nephritic syndrome is often caused by an immune response triggered by an infection or other disease. Common causes in children ...

  20. Morvan Syndrome

    Science.gov (United States)

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  1. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  2. Robinow syndrome

    Directory of Open Access Journals (Sweden)

    Suresh S

    2008-01-01

    Full Text Available Robinow syndrome is a rare autosomal recessive mesomelic dwarfism with just more than 100 cases reported in the literature so far. The lower extremity is spared with skeletal deformity usually confined to the forearm, hand, and the dorsal spine. Diagnosis is made easily in the early childhood by the typical "fetal facies" appearance, which disappears to a certain extent as the patient grows. The author reports two cases of this entity with vertebral segmentation defects, rib fusion, and typical severe brachymelia and facial features.

  3. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

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

    1982-11-01

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

  4. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  5. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  6. Paradiis 2.0 / Laurie Werner

    Index Scriptorium Estoniae

    Werner, Laurie

    2014-01-01

    Oracle'i tegevjuht Larry Ellison ostis 98% Hawai saarest Lanaist. Ettevõtja soovib rajada sinna tööstuspiirkondada, võtta kasutusele päikeseenergiarajatisi, tuua saarele elektriautosid ja suurendada elanikkonda

  7. Werner Heisenberg. A traveller between two worlds

    International Nuclear Information System (INIS)

    Fischer, Ernst Peter

    2015-01-01

    The following topics are dealt with: A night in Helgoland, no quietude ever, smart quantum jumps, three teachers and their pupil, life with two worlds, a young professor, the Nobel prize and the time of the Nazis, the atomic nucleus and its energy, finally to Munich, steps over boundaries. (HSI)

  8. Gasellid ja kilpkonnad / Hans-Werner Sinn

    Index Scriptorium Estoniae

    Sinn, Hans-Werner, 1948-

    2010-01-01

    Müncheni ülikooli professori sõnul on maailm praegu jagunenud kaheks riikide rühmaks - üks on teel jõulise taastumise poole, teine annab märku uutest probleemidest. Esimesse kuuluvad Brasiilia, Venemaa, India ja Hiina, teises rühmas on võlaprobleemidega riigid eesotsas USA-ga. Euroopa riikidest

  9. Cardiorenal syndrome

    Directory of Open Access Journals (Sweden)

    Sabry Omar

    2013-01-01

    Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease.  Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.

  10. Lowe syndrome

    Directory of Open Access Journals (Sweden)

    Loi Mario

    2006-05-01

    Full Text Available Abstract Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5 bisphosphate 5 phosphatase, PtdIns (4,5P2, in the trans-Golgi network is responsible for the disease. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease. The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water. Life span rarely exceeds 40 years.

  11. Cotard Syndrome.

    Science.gov (United States)

    Dieguez, Sebastian

    2018-01-01

    Cotard's syndrome is often described as the delusional belief that one is dead or non-existent. However, Jules Cotard's initial description (1880) of the "delusion of negations" was much richer and also involved delusions and claims of immortality and enormity, feelings of damnation, and illusions of bodily dissolution and transformation. Alternatively conceived as an extreme case of depression, hypochondria, or psychosis, the condition is considered rare and remains poorly understood. Cotard himself provided a taxonomy and several explanations for the condition, focusing on its distinction from classical persecutory delusions and suggesting that it could be a kind of reversed grandiosity. He proposed a psychosensory basis in the dissolution of mental imagery, which he then extended to a more general psychomotor impairment of volition. Other early authors highlighted a disorder of the bodily self, and more recent theories postulated an impairment of right hemispheric functions, leading to perceptual and somatosensory feelings of unreality, which coupled with reasoning impairments and an internalized attributional style led in turn to beliefs of non-existence. However, despite its striking presentation and its relevance to our understanding of self-awareness, Cotard's syndrome remains an elusive condition, rarely reported and poorly researched. © 2018 S. Karger AG, Basel.

  12. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  13. Elsberg syndrome

    Science.gov (United States)

    Savoldi, Filippo; Kaufmann, Timothy J.; Flanagan, Eoin P.; Toledano, Michel

    2017-01-01

    Objective: Elsberg syndrome (ES) is an established but often unrecognized cause of acute lumbosacral radiculitis with myelitis related to recent herpes virus infection. We defined ES, determined its frequency in patients with cauda equina syndrome (CES) with myelitis, and evaluated its clinical, radiologic, and microbiologic features and outcomes. Methods: We searched the Mayo Clinic medical records for ES and subsequently for combinations of index terms to identify patients with suspected CES and myelitis. Results: Our search yielded 30 patients, 2 diagnosed with ES and an additional 28 with clinical or radiologic evidence of CES retrospectively suspected of having ES. We classified patients in 5 groups according to diagnostic certainty. MRI and EMG confirmed that 2 had only myelitis, 5 only radiculitis, and 16 both. Two had preceding sacral herpes infection and 1 oral herpes simplex. Spinal cord lesions were commonly multiple, discontinuous, not expansile, and centrally or ventrally positioned. Lesions generally spared the distal conus. Nerve root enhancement was occasionally prominent and was smooth rather than nodular. Lymphocytic CSF pleocytosis was common. Thirteen patients (43%) had viral isolation studies, which were commonly delayed; the delay may have accounted for the low rate of viral detection. Acyclovir was administered to 6 patients. Most patients recovered with sequelae; 1 patient experienced encephalomyelitis and died. Conclusion: ES is a definable condition likely responsible for 10% of patients with combined CES and myelitis. Radiologic findings are not entirely specific but may help in differentiating ES from some competing diagnostic considerations. We propose criteria to facilitate diagnosis. PMID:28534040

  14. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  15. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... en español Síndrome de Marfan What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the body's ... bones , blood vessels, and organs. What Causes Marfan Syndrome? Marfan syndrome happens because of an abnormality in one ...

  16. Burnout Syndrome of Teachers

    OpenAIRE

    Semrádová, Michaela

    2013-01-01

    The bachelor's thesis covers burnout syndrome of teachers. Defines burnout syndrome, describes its causes and symptoms. Describes teaching as helping profession and focousing on stressful situations at school. In the last chapter described different prevention strategies burnout syndrome. Key words: burnout syndrome, teaching, teacher, helping professions, beginning teacher, stress

  17. Turner Syndrome (For Teens)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...

  18. Understanding Bartter syndrome and Gitelman syndrome.

    Science.gov (United States)

    Fremont, Oliver T; Chan, James C M

    2012-02-01

    We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

  19. Superior Mesenteric Artery Syndrome or Wilkie Syndrome

    International Nuclear Information System (INIS)

    Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula

    2009-01-01

    We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

  20. [Syndrome X vs metabolic syndrome].

    Science.gov (United States)

    Morales Villegas, Enrique

    2006-01-01

    Himsworth in 1939 postulated that Diabetes Mellitus type 2 (DM2) was not only an insulin deficiency state but also a cellular insulin insensitivity disease. Thirty years later, DeFronzo and Reaven demonstrated that insulin resistance (IR) preceded and predisposed for DM2 and atherosclerotic-cardiovascular-disease (ACVD). Reaven was the first to point out the relationship between IR and with hyperglycemia, dyslipidosis, and hypertension as mediators for ACVD, creating the concept of Syndrome X (SX) in 1988. WHO and, thereafter, other medical societies and medical groups, mainly ATP-III, in 2002, based on the difficulty of diagnosing IR in a simple, reliable, and inexpensive way, proposed and published the Metabolic Syndrome (MS) concept, as a group of five variables, i.e., obesity, hyperglycemia, hypertriglyceridemia, low HDL, and hypertension, as an easy clinical approximation to suspect and treat an increased cardiometabolic risk. Nowadays, there are deep and extensive controversies on this issue; however, these controversies do not really exist since all discordant points of view are rather quantitative and not qualitative in nature. This article is aimed at differentiating and harmonizing the complementary concepts of SX and MS, at analyzing why MS is a good "clinical window" to look for IR and its underlying manifestations, and finally to accept that the MS concept complements, but does not substitute or antagonize, traditional scales used to asses cardiovascular risk, such as the Framingham scale.

  1. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. Written permission from the American Academy of Family Physicians is required for reproduction of this material in whole or in part in any form or medium.

  2. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  3. Gorlin's syndrome.

    Science.gov (United States)

    Ramsden, R T; Barrett, A

    1975-06-01

    The uncommon familial syndrome of multiple odontogenic keratocysts, basal cell naevi and skeletal anomalies is reviewed, and seven cases are described, including one patient who developed squamous cell carcinoma in a previous odontogenic keratocyst of the maxilla. We wish to thank Consultants from the Royal National Throat, Nose and Ear Hospital, The Middlesex Hospital and the Eastman Dental Hospital, who allowed us access to their patients; Mr. D. Garfield Davies, Dr. M. F. Spittle, Mr. D. Winstock, Mr. H. P. Cook, Professor H. C. Killey and Mr. L. W. Kay. We are grateful to Professor L. Michaels and Mr. D. J. Connolly for preparation of the illustrations and to Mrs. A. Matthews for the typescript.

  4. HEPATORENAL SYNDROME

    Directory of Open Access Journals (Sweden)

    Matjaž Hafner

    2001-12-01

    Full Text Available Background. Hepatorenal syndrome (HRS is acommon complication of advanced hepatic disease characterizedby marked abnormalities in arterial circulation and byrenal failure. An extreme arteriolar vasodilatation located inthe splanchnic circulation results in a reduction of total systemicvascular resistence and arterial hypotension. Vasoconstrictionoccurs in the renal circulation as in all other extrasplanchnicvascular territories. In the kidney, marked renalvasoconstriction results in a low glomerular filtration rate.Conclusions. The diagnosis of HRS is currently based on exclusionof other causes of renal failure. Prognosis of patientswith HRS is very poor. Liver transplantation is the best therapeuticoption, but it is seldom applicable due to the short survivalexpectancy of most patients with HRS, particularly thosewith the rapidly progressive type of HRS. New therapies developedduring the last few years, such as the use of systemicvasoconstrictors or transjugular intrahepatic portosystemicshunts (TIPS appear promising. Such treatments are of interestnot only as a bridge to liver transplantation but also as atherapy for patients who are not candidates for transplantation.

  5. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

    Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  6. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  7. Gitelman syndrome

    Directory of Open Access Journals (Sweden)

    Levtchenko Elena N

    2008-07-01

    Full Text Available Abstract Gitelman syndrome (GS, also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Transient periods of muscle weakness and tetany, sometimes accompanied by abdominal pain, vomiting and fever are often seen in GS patients. Paresthesias, especially in the face, frequently occur. Remarkably, some patients are completely asymptomatic except for the appearance at adult age of chondrocalcinosis that causes swelling, local heat, and tenderness over the affected joints. Blood pressure is lower than that in the general population. Sudden cardiac arrest has been reported occasionally. In general, growth is normal but can be delayed in those GS patients with severe hypokalemia and hypomagnesemia. GS is transmitted as an autosomal recessive trait. Mutations in the solute carrier family12, member 3 gene, SLC12A3, which encodes the thiazide-sensitive NaCl cotransporter (NCC, are found in the majority of GS patients. At present, more than 140 different NCC mutations throughout the whole protein have been identified. In a small minority of GS patients, mutations in the CLCNKB gene, encoding the chloride channel ClC-Kb have been identified. Diagnosis is based on the clinical symptoms and biochemical abnormalities (hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. Bartter syndrome (especially type III is the most important genetic disorder to consider in the differential diagnosis of GS. Genetic counseling is important. Antenatal diagnosis for GS

  8. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

  9. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2012-04-01

    Full Text Available Renal failure is a common major complication in patients with advanced cirrhosis and generally indicates a poor prognosis when combined with liver failure. Hepatorenal syndrome (HRS is characterised by a combination of disturbances in circulatory and kidney function. Arterial pressure is decreased in the systemic circulation due to reduced total systemic vascular resistance. Kidney dysfunction is caused by reduction in renal blood flow. The diagnosis of HRS is based on exclusion of other disorders that cause acute kidney injury in cirrhosis as there are no specific tests. There are two types of HRS with different characteristics and prognostics. Liver transplantation is the treatment of choice for all patients without contraindication. The best approach to the pharmacologic management is the administration vasoconstrictor drugs based on the pathogenesis. Many vasoconstrictors including vasopressin analogues (terlipressin, ornipressin and vasopressin, somatostatin analogues (octreotide and alpha-adrenergic analogues (midodrine and norepinephrine have been studied. In most of the studies intravenous albumin therapy was coadministered with vasoconstrictor drugs and suggested that albumin should be considered as the component of pharmacologic intervention in patients with HRS. Renal replacement therapy in the form of hemodialysis or continuous venovenous hemofiltration has been used in the management of HRS patients awaiting transplantation or in those with acute potentially reversible conditions. The artificial hepatic support systems require further investigation. (Journal of the Turkish Society Intensive Care 2012; 10: 37-44

  10. Pseudohypopituitary syndromes.

    Science.gov (United States)

    Heinze, E; Holl, R W

    1992-07-01

    In a child with short stature, the finding of normal or elevated GH levels in the presence of low concentrations of IGF-I raises the following possibilities. (1) A modification of the GH molecule, which is still detected by RIA, but inactive biologically. Therefore, an RRA or bioassay for hGH should result in considerably lower GH measurements compared with RIA determinations in the same sample. As both bioassays as well as RRAs are not widely available and are hampered by several difficulties, few children with this presumptive diagnosis have been described. So far, it has not been possible to define a specific molecular defect in one of these patients. (2) Abnormalities of the GH receptor or postreceptor mechanisms lead to a GH insensitivity syndrome. Laron-type dwarfism is usually due to a deletion in the gene for hepatic GH receptors: the serum binding protein for GH is absent. In three additional populations, the Pygmies of Zaire, the little women of Loja in Ecuador and the Mountain Ok people in Papua New Guinea, alterations of GH receptor function have been described. Finally, some reports describe patients with normal or elevated serum levels of both growth hormone and IGF-I in whom resistance to IGF has been implied in the pathogenesis of small stature.

  11. Hepatorenal syndrome.

    Science.gov (United States)

    Papper, S

    1980-01-01

    Renal failure without apparent cause (the hepatorenal syndrome) may develop in the course of cirrhosis of the liver. While the development of renal failure bears a poor prognosis, spontaneous recovery can occur. The data suggest that for the most part patients die in rather than of renal failure. The latter seems to be only part of a broader more fundamental disturbance. The pathogenesis of HRS is unknown, but the evidence supports an impairment of effective renal perfusion. The two major hypotheses concerning the nature of the impaired perfusion are that it is a physiologic response to alterations in the extrarenal circulation, and that there is an unidentified humoral agent(s) produced by or inadequately inactivated by or bypassing the diseased liver and causing circulatory changes in the kidney as well as in other organs. It is possible that both mechanisms are operative. Treatment is unsatisfactory and emphasis is presently best placed upon searching for more treatable causes of renal functional impairment in individual patients.

  12. Terlipressin for hepatorenal syndrome

    DEFF Research Database (Denmark)

    Gluud, Lise Lotte; Christensen, Kurt; Christensen, Erik

    2012-01-01

    Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal.......Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal....

  13. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  14. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  15. Hermansky-Pudlak syndrome

    Directory of Open Access Journals (Sweden)

    Preena A

    2017-04-01

    Full Text Available Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albinism, pulmonary fibrosis and bleeding diathesis. Here we report a case of Hermansky-Pudlak syndrome who presented with dyspnea, oculocutaneous albinism and nystagmus.

  16. Marfan syndrome (image)

    Science.gov (United States)

    Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

  17. Acute respiratory distress syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000103.htm Acute respiratory distress syndrome To use the sharing features on this page, please enable JavaScript. Acute respiratory distress syndrome (ARDS) is a life-threatening lung ...

  18. Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

    Science.gov (United States)

    Nkrumah, F K

    1971-03-01

    A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.

  19. Guillain-Barre Syndrome

    Science.gov (United States)

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS ... your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, ...

  20. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

  1. Polycystic Ovary Syndrome

    Science.gov (United States)

    Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts ( ... PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is ...

  2. Hyperimmunoglobulin E syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001311.htm Hyperimmunoglobulin E syndrome To use the sharing features on this page, please enable JavaScript. Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes ...

  3. Holmes-Adie Syndrome

    Science.gov (United States)

    ... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ...

  4. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

    Derksen, R. H. W. M.; de Grootb, Ph. G.

    The association of persistent presence of circulating antiphospholipid antibodies and thromboembolic events, (recurrent) pregnancy loss or both is termed antiphospholipid syndrome. Pregnancies in women with the syndrome should be regarded as at high-risk for complications. Optimal management

  5. Tics and Tourette Syndrome

    Science.gov (United States)

    ... for Nausea and Vomiting Home Diseases and Conditions Tics and Tourette Syndrome Condition Tics and Tourette Syndrome Share Print Table of Contents1. ... little or no control over. These are called tics. Several different tics can happen at the same ...

  6. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Changed What's Life Like for Kids With Down Syndrome? Print en español El síndrome de Down You have probably seen people who have Down syndrome. They have certain physical features, such as a ...

  7. Hantavirus Pulmonary Syndrome (HPS)

    Science.gov (United States)

    ... to Yosemite FAQ: Non-U.S. Visitors to Yosemite History of HPS Related Links Prevent Rodent Infestations Cleaning Up After Rodents Diseases From Rodent Hantavirus Pulmonary Syndrome (HPS) Recommend on Facebook Tweet Share Compartir Hantavirus Pulmonary Syndrome (HPS) is ...

  8. Ramsay Hunt syndrome

    Science.gov (United States)

    Hunt syndrome; Herpes zoster oticus; Geniculate ganglion zoster; Geniculate herpes; Herpetic geniculate ganglionitis ... The varicella-zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and ...

  9. Moebius Syndrome Foundation

    Science.gov (United States)

    ... craniofacial/neurological disorder. Individuals with Moebius syndrome cannot smile or frown, and do not have lateral eye ... the organization to ensure that they are in line with the mission of the Moebius Syndrome Foundation. ...

  10. Burning Mouth Syndrome

    Science.gov (United States)

    ... Care Home Health Info Health Topics Burning Mouth Burning Mouth Syndrome (BMS) is a painful, complex condition often described ... or other symptoms. Read More Publications Cover image Burning Mouth Syndrome Publication files Download Language English PDF — Number of ...

  11. Neuroleptic Malignant Syndrome

    Science.gov (United States)

    ... such as neuroleptic malignant syndrome. Much of this research focuses on finding ways to prevent and treat the disorder. Show More Show Less Search Disorders SEARCH SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Neuroleptic malignant syndrome is ...

  12. Skin Peeling Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma Rajeev

    2000-01-01

    Full Text Available Peeling of the skin is an uncommonly encountered disorder. Occurrence of vesicles and bullae in peeling skin syndrome is very rare. We report a case of idiopathic peeling skin syndrome with vesicular lesions.

  13. [The Capgras syndrome].

    Science.gov (United States)

    Anikina, M A; Levin, O S

    2013-01-01

    The Capgras syndrome is one of delusional-like misidentification syndrome in which a person holds a delusion that one or several his/her friends or relatives have been replaced by an identical-looking impostor. As any other delusional disorder, the Capgras syndrome is characterized by stability despite the indisputable arguments against fault views. Initially, this syndrome was considered as a presentation of schizophrenia but later it has been described in brain organic disorders, primarily in elderly patients with dementia.

  14. The wellness syndrome

    DEFF Research Database (Denmark)

    Mik-Meyer, Nanna

    2015-01-01

    Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.).......Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.)....

  15. PRES syndrome

    International Nuclear Information System (INIS)

    Georgiev, R.; Novakova, M.; Balev, B.; Baleva, D.; Nedelchev, K.

    2010-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological entity characterized by headache, confusion, visual disturbances, seizures and posterior transient changes on neuroimaging. PRES has been described in several conditions including hypertensive encephalopathy, preeclampsia, eclampsia, infections, electrolyte imbalance, hypercalcaemia and use of several drugs. It occurs due to elevated blood pressure which exceeds the autoregulatory capacity of brain vasculature. The posterior circulation supplied by vertibro-basilar system has poor sympathetic innervation and, therefore, is frequently involved. The role of neuroimaging is to establish the initial diagnosis and to exclude other causes of neurological symptoms and signs. NCCT is sufficient to make the diagnosis in a proper clinical setting. MRI features are characteristic and has diagnostic and prognostic value. Diffusion weighted imaging (DWI) can differentiate this condition from ischemia/cytotoxic edema. Differential diagnosis of PRES includes PCA territory infarcts, venous thrombosis, demyelinating disorders, vasculitis and encephalitis. The diagnosis has important implications because the reversibility of the clinico-radiological abnormalities is contingent on the prompt control of blood pressure and/or withdrawing of the offending drug. We describe here a case of PRES in a 12 years old girl with acute lymphoblasts leukaemia, treated with cytostatics-vincristine, pharmorubycin and methotrexate. After 39 days from the beginning of the treatment there are good results in the myelogram and the flowcytometric examination, but the patient made two tonic-clonic seizures. CT and MRI were made and signs of leucoencephalopathy were diagnosed. Several control MRI examinations after cessation of the therapy and disappearance of the neurologic symptoms were made. The normal findings and the clinical course were the reasons for the PRES diagnosis

  16. Postthrombotic syndrome.

    Science.gov (United States)

    Pesavento, Raffaele; Bernardi, Enrico; Concolato, Alessia; Dalla Valle, Fabio; Pagnan, Antonio; Prandoni, Paolo

    2006-10-01

    Despite considerable progress in the diagnosis and treatment of deep vein thrombosis (DVT) of the lower extremities, one of every three patients will develop postthrombotic sequelae within 2 years; these sequelae are severe in approximately 20% of cases and produce considerable socioeconomic consequences. Among factors potentially related to the development of the postthrombotic syndrome (PTS) are older age, obesity, insufficient oral anticoagulant therapy, and recurrent ipsilateral thrombosis. Whether the extent and location of the initial thrombosis are associated with the development of PTS is controversial. Based on recent findings, the lack of vein recanalization within the first 6 months appears to be an important predictor of PTS, whereas the development of transpopliteal venous reflux is not. The diagnosis of PTS can be made on clinical grounds for patients with a history of DVT. The combination of a standardized clinical evaluation with the results of compression ultrasonography and Doppler ultrasound helps diagnose or exclude a previous proximal vein thrombosis. According to the results of recent clinical studies, the prompt administration of adequate compression elastic stockings in patients with symptomatic DVT has the potential to reduce the frequency of late PTS development by half. The management of this condition is demanding and often frustrating. However, when carefully supervised and instructed to wear proper elastic stockings, more than 50% of patients will either remain stable or improve during long-term follow-up. Clinical presentation helps predict the prognosis; the outcome of patients who refer with initially severe manifestations is more favorable than that of patients whose symptoms deteriorate progressively over time.

  17. Cardio-renal syndrome

    OpenAIRE

    Gnanaraj, Joseph; Radhakrishnan, Jai

    2016-01-01

    Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome.

  18. Facts about Down Syndrome

    Science.gov (United States)

    ... monitor children with Down syndrome for these conditions. Treatments Down syndrome is a lifelong condition. Services early in life ... of these services focus on helping children with Down syndrome develop to their ... therapy, and they are typically offered through early intervention ...

  19. Gorlin-goltz syndrome

    International Nuclear Information System (INIS)

    Ahmed, N.; Salman, M.; Mansoor, M.A.

    2007-01-01

    Multiple jaw cysts are a characteristic manifestation of basal cell nevus (Gorlin) syndrome. Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system. In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts. This patient showed recurrent jaw and maxillary cysts, for which he was followed for 2 years. (author)

  20. Sjogren-Larsson Syndrome

    Science.gov (United States)

    ... Or In Memory Of Obituaries Contact Us Donate Sjogren-Larsson Syndrome What causes SLS? SLS is caused by mutations ... methods of diagnosing SLS. Other Clinical Names for Sjogren-Larsson Syndrome Other clinical names of Sjogren-Larsson Syndrome include: ...

  1. Cushing's syndrome during pregnancy

    NARCIS (Netherlands)

    Mulder, W. J.; Berghout, A.; Wiersinga, W. M.

    1990-01-01

    Two cases of Cushing's syndrome during pregnancy are reported, both due to an adrenal adenoma. The association of pregnancy and Cushing's syndrome has up to now been described in 48 patients (including our two cases); Cushing's syndrome was ACTH-independent in 59%, ACTH-dependent in 33%, and of

  2. Polycystic Ovary Syndrome FAQ

    Science.gov (United States)

    ... Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ... with PCOS? •Glossary What are common signs and symptoms of polycystic ovary syndrome (PCOS)? Common PCOS signs and symptoms include the ...

  3. Diagnostik af Dravet syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy. We describe the features of two cases with genetically verified SCNA1 mutations. The diagnosis was established rather late in one case. The epilepsies were medically intractable and the symptoms characteristic of Dravet syndrome. The children...

  4. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Souhami Filho, L.

    1985-01-01

    Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.) [pt

  5. DIDMOAD (Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Masoud Nashibi

    2016-07-01

    Full Text Available Wolfram syndrome was first described by physician D J Wolfram and Wagener in 1938. This autosomal recessive syndrome is also referred to as DIDMOAD syndrome which stands for Diabetes Insipidus, Insulin Dependent Diabetes Mellitus, Optic Atrophy and Deafness

  6. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    Science.gov (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  7. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  8. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN

    2013-02-01

    Full Text Available Abstract First described in 1983, Barth syndrome (BTHS is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM, skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA. Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM, hypertrophic cardiomyopathy (HCM, endocardial fibroelastosis (EFE, left ventricular non-compaction (LVNC, ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and

  9. Abdominal compartment syndrome with acute reperfusion syndrome

    International Nuclear Information System (INIS)

    Maleeva, A.

    2017-01-01

    Abdominal compartment syndrome was recognized clinically in the 19th century when Marey and Burt observed its association with declines in respiratory function. Abdominal compartment syndrome is first used as a medical terminology from Fietsman in a case of ruptured abdominal aortic aneurysm. A condition caused by abnormally increased pressure within the abdomen. Causes of abdominal compartment syndrome include trauma, surgery, or infection. Common symptoms: abdominal distension, fast heart rate, insufficient urine production, or low blood pressure Medical procedure: nasogastric intubation Surgery: laparotomy Specialists: radiologist, primary care provider (PCP), surgeon, and emergency medicine doctor [6, 10]. Keywords: Stomach. Gastroparesis . Diabetes Mellitus [bg

  10. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    Directory of Open Access Journals (Sweden)

    Mohammad Sarraf

    2011-01-01

    Full Text Available Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed.

  11. Genetics Home Reference: Marfan syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Marfan syndrome Marfan syndrome Printable PDF Open All Close All Enable Javascript ... Marfan syndrome KidsHealth from Nemours Foundation MalaCards: marfan syndrome Orphanet: Marfan syndrome Your Genes Your Health from Cold Spring ...

  12. Gorlin-goltz syndrome

    Directory of Open Access Journals (Sweden)

    B V Shobha

    2011-01-01

    Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.

  13. Mobius syndrome: MRI features

    International Nuclear Information System (INIS)

    Markarian, Maria F.; Villarroel, Gonzalo M.; Nagel, Jorge R.

    2003-01-01

    Purpose: Mobius Syndrome or congenital facial diplegia is associated with paralysis of the lateral gaze movements. This syndrome may include other cranial nerve palsies and be associated to musculoskeletal anomalies. Our objective is to show the MRI findings in Mobius Syndrome. Material and methods: MRI study was performed in 3 patients with clinic diagnosis of Mobius Syndrome. RMI (1.5T); exams included axial FSE (T1 and T2), FLAIR, SE/EPI, GRE/20, sagittal FSE T2 , coronal T1, diffusion, angio MRI and Spectroscopy sequences. Results: The common features of this syndrome found in MRI were: depression or straightening of the floor of the fourth ventricle, brainstem anteroposterior diameter diminution, morphologic alteration of the pons and medulla oblongata and of the hypoglossal nuclei as well as severe micrognathia. Conclusion: The morphologic alterations of Mobius Syndrome can be clearly identified by MRI; this method has proved to be a useful diagnostic examination. (author)

  14. [Menopause and metabolic syndrome].

    Science.gov (United States)

    Meirelles, Ricardo M R

    2014-03-01

    The incidence of cardiovascular disease increases considerably after the menopause. One reason for the increased cardiovascular risk seems to be determined by metabolic syndrome, in which all components (visceral obesity, dyslipidemia, hypertension, and glucose metabolism disorder) are associated with higher incidence of coronary artery disease. After menopause, metabolic syndrome is more prevalent than in premenopausal women, and may plays an important role in the occurrence of myocardial infarction and other atherosclerotic and cardiovascular morbidities. Obesity, an essential component of the metabolic syndrome, is also associated with increased incidence of breast, endometrial, bowel, esophagus, and kidney cancer. The treatment of metabolic syndrome is based on the change in lifestyle and, when necessary, the use of medication directed to its components. In the presence of symptoms of the climacteric syndrome, hormonal therapy, when indicated, will also contribute to the improvement of the metabolic syndrome.

  15. Orofacial syndromes: A review

    Directory of Open Access Journals (Sweden)

    N Shyam Sunder

    2011-01-01

    Full Text Available A syndrome is a set of signs and symptoms that tend to occur together and reflect the presence of a particular disease or an increased chance of developing to a particular disease. There are numerous orofacial syndromes and a thorough knowledge of their manifestations and implications is pertinent in good oral health care delivery. The aim of this review is to describe collective esoteric knowledge, about various malformations and syndromes associated with orofacial region.

  16. Steele Richardson Olszewski syndrome

    Directory of Open Access Journals (Sweden)

    Vijayashree S Gokhale

    2013-01-01

    Full Text Available Parkinson′s disease and its plus syndromes are an important cause of morbidity in the geriatric age group. Its plus syndromes show a myriad of clinical features characterized by progressive symptoms. Here we present a 65-year-old woman with progressive "Parkinsonian-like features," i.e., mask-like face, slowness of all movements and tendency to fall, and difficulty in eye movements, leading to the diagnosis of Steele Richardson Olszewski Syndrome or progressive supranuclear palsy.

  17. Metabolic syndrome and menopause

    OpenAIRE

    Jouyandeh, Zahra; Nayebzadeh, Farnaz; Qorbani, Mostafa; Asadi, Mojgan

    2013-01-01

    Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3) criteria t...

  18. Post cardiac injury syndrome

    DEFF Research Database (Denmark)

    Nielsen, S L; Nielsen, F E

    1991-01-01

    The post-pericardiotomy syndrome is a symptom complex which is similar in many respects to the post-myocardial infarction syndrome and these are summarized under the diagnosis of the Post Cardiac Injury Syndrome (PCIS). This condition, which is observed most frequently after open heart surgery, i...... on the coronary vessels, with cardiac tamponade and chronic pericardial exudate. In the lighter cases, PCIS may be treated with NSAID and, in the more severe cases, with systemic glucocorticoid which has a prompt effect....

  19. A seizuring alagille syndrome

    Directory of Open Access Journals (Sweden)

    Jomon Mathew John

    2017-01-01

    Full Text Available Alagille syndrome is a rare autosomal dominant inherited disorder with incidence of one in 100,000 live births. This syndrome with seizure as a presentation has been rarely reported in Indian studies. We present a 3-month-old infant who presented to us with seizures was found to have a dysmorphic face, jaundice, hepatomegaly, and soft systolic murmur. Infant was stabilized and remained seizure free. A detailed clinical evaluation of a common presentation may reveal a rare syndrome.

  20. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Waardenburg syndrome Waardenburg syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Waardenburg syndrome is a group of genetic conditions that can ...

  1. What Is Antiphospholipid Antibody Syndrome?

    Science.gov (United States)

    ... Back To Health Topics / Antiphospholipid Antibody Syndrome Antiphospholipid Antibody Syndrome Also known as What Is Antiphospholipid (AN-te-fos-fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders ...

  2. What Is Respiratory Distress Syndrome?

    Science.gov (United States)

    ... Home / Respiratory Distress Syndrome Respiratory Distress Syndrome Also known as What Is Respiratory ... This condition is called apnea (AP-ne-ah). Respiratory Distress Syndrome Complications Depending on the severity of ...

  3. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Turner syndrome Turner syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Turner syndrome is a chromosomal condition that affects development in ...

  4. Guide to Understanding Pfeiffer Syndrome

    Science.gov (United States)

    ... syndrome occurs more often in children with older fathers. if I have pfeiffer syndrome what are the odds of passing it to my children? p feiffer syndrome is a rare, autosomal dominant disorder, meaning it requires only one parent to ...

  5. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

    ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (8 links) ...

  6. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

    ... Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDHEL syndrome SERAC1 ... Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 ...

  7. Genetics Home Reference: Usher syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Usher syndrome Usher syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Usher syndrome is a condition characterized by partial or total ...

  8. Genetics Home Reference: Bartter syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Bartter syndrome Bartter syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bartter syndrome is a group of very similar kidney disorders ...

  9. Lesch-Nyhan Syndrome

    Science.gov (United States)

    ... National Organization for Rare Disorders (NORD) Purine Research Society See all related organizations Publications Order NINDS Publications Definition Lesch-Nyhan syndrome (LNS) is a rare, inherited ...

  10. SNEDDON’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Valentin Valtchev

    2008-10-01

    Full Text Available Sneddon’s syndrome is usually characterized by the association of an ischemic cerebrovascular disease and a widespread livedo reticularis. The incidence of Sneddon syndrome is 4/1000 000. We present 42-year-old woman with livedo reticularis, recurrence ischaemic cerebrovascular accidents, two repetitive miscarriages and positive anti-2GPi antibodies. Skin biopsy specimens reveal inflammatory changes of small- to medium-sized arteries and subendothelial proliferation and fibrosis. The diagnosis Sneddon syndrome is confirmed by skin biopsy, and MR evidence. We suggest that anti-2GPi antibodies may be pathophysiologically related to the clinical manifestation observed in some patients with Sneddon syndrome.

  11. Fragile X syndrome

    Science.gov (United States)

    ... problems, or intellectual disability may not be present. Symptoms Behavior problems associated with fragile X syndrome include: Autism spectrum disorder Delay in crawling, walking, or twisting Hand flapping ...

  12. [Neurobiology of Tourette Syndrome].

    Science.gov (United States)

    Ünal, Dilek; Akdemir, Devrim

    2016-01-01

    Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

  13. Cushing's syndrome in pregnancy.

    Science.gov (United States)

    Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

    2015-02-01

    Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

  14. Central Pain Syndrome

    Science.gov (United States)

    ... such as neurontin (gabapentin) can be useful. Lowering stress levels appears to reduce pain. View Full Treatment Information Definition Central pain syndrome is a neurological condition caused ...

  15. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

    Bhalli, M.A.; Aamir, M.; Mustafa, G.

    2011-01-01

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  16. Metabolic syndrome in acute coronary syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Bhalli, M A; Aamir, M; Mustafa, G [Combined Military Hospital, Abbottabad (Pakistan)

    2011-06-15

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  17. Polycystic ovary syndrome and metabolic syndrome.

    Science.gov (United States)

    Ali, Aus Tariq

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

  18. Wolfram syndrome 1 and Wolfram syndrome 2.

    Science.gov (United States)

    Rigoli, Luciana; Di Bella, Chiara

    2012-08-01

    Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the endoplasmic reticulum (ER) in pancreatic β cells. Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus. The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22. Numerous studies have shown an interesting similarity between WFS1 and CISD2 genes. Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. These researches provide interesting insight into the relation of neurodegenerative diseases, mitochondrial disorders, and autophagy and are useful for the pathophysiological understanding of both Wolfram syndrome and mitochondrial-mediated premature aging. The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.

  19. Bardet-Biedl syndrome and Usher syndrome.

    Science.gov (United States)

    Koenig, Rainer

    2003-01-01

    Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients.

  20. Alport Syndrome Diagnosis

    Science.gov (United States)

    ... 4 months later, my father walked me down the aisle. We danced to a Beatles song & then to j… Connect on Instagram Email: info@alportsyndrome.org Phone: (480) 800-3510 Mailing Address: Alport syndrome Foundation P.O. Box 4130 ... 5, 2017 Cecil Alport: Naming the Syndrome November 26, 2016 The Renal Diet: Potassium ...

  1. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha

    2007-01-01

    Full Text Available Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults. The authors describe a patient who had clinical and magnetic resonance imaging features diagnostic of Leigh syndrome, with supportive biochemical and muscle histochemistry evidence.

  2. Post-Polio Syndrome

    Science.gov (United States)

    ... You are here Home » Disorders » All Disorders Post-Polio Syndrome Information Page Post-Polio Syndrome Information Page What research is being done? ... behavior of motor neurons many years after a polio attack. Others are looking at the mechanisms of ...

  3. Klippel-Feil Syndrome

    Science.gov (United States)

    ... proteins that are involved in bone development and segmentation of the vertebrae. × Definition Klippel-Feil Syndrome is a rare disorder characterized ... proteins that are involved in bone development and segmentation of the vertebrae. View Full Definition ... Treatment Treatment for Klippel-Feil Syndrome is symptomatic ...

  4. Redefining syndromic surveillance

    Directory of Open Access Journals (Sweden)

    Rebecca Katz

    2011-12-01

    Full Text Available With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field’s capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries.

  5. Beckwith-Wiedemann syndrome

    Science.gov (United States)

    ... most common tumors in children with this syndrome. Causes Beckwith-Wiedemann syndrome is caused by a defect ... Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine . 10th ed. ... MA. Hypoglycemia. In: Kliegman RM, Stanton BF, St. Geme JW, ...

  6. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts

    2014-07-07

    This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome Coronavirus—MERS-CoV.  Created: 7/7/2014 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 7/7/2014.

  7. International Rett Syndrome Foundation

    Science.gov (United States)

    ... state Rett Syndrome Handbook Called the “Rett Syndrome Bible”, all the information you need for your journey- available in PDF version. Purchase a hard copy Get 1:1 Support Connect with our Family Empowerment Team , join a special interest network More forms of support Find your Family Empowerment ...

  8. Churg Strauss syndrome

    International Nuclear Information System (INIS)

    Lopez Rengifo, Diana Milena; Contreras Zuniga, Eduardo; Osio, Luis Fernando

    2007-01-01

    The Churg-Strauss syndrome, also called allergic granulomatosis and angiitis, is a multisystem disorder characterized by allergic rhinitis, asthma, and prominent peripheral blood eosinophilia. The most common organ involved is the lung, followed by the skin. The Churg-Strauss syndrome, however, can affect any organ system, including the cardiovascular, gastrointestinal, renal, and central nervous systems

  9. Churg-strauss syndrome

    Directory of Open Access Journals (Sweden)

    Brar B

    2009-01-01

    Full Text Available We report a case of 29-year-old man who presented with cutaneous vasculitis and was subsequently diagnosed as a case of Churg-Strauss syndrome. The patient fulfilled five out of the six criteria of the syndrome developed by American College of Rheumatology.

  10. ACUTE COMPARTMENT SYNDROME

    African Journals Online (AJOL)

    muscle destruction, muscle fibrosis, contractures and permanent disability and at worst case scenario of amputation (3,4). As reported by Frink et al (3) on their study on acute compartment syndrome it can occur even when there is no fracture. Also general surgeons have reported acute compartment syndrome.

  11. Metabolic syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Jouyandeh Zahra

    2013-01-01

    Full Text Available Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3 criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause.

  12. Shaken Baby Syndrome

    Science.gov (United States)

    ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse × What research is being done? The National ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse See More About Research The National Institute ...

  13. Korsakoff's syndrome is preventable

    NARCIS (Netherlands)

    Oudman, Erik; Wijnia, Jan W.

    2014-01-01

    Wernicke-Korsakoff syndrome (WKS) is a life-threatening neuropsychiatric disorder caused by thiamine (vitamin B1) deficiency. Wernicke-Korsakoff syndrome is associated with mammillary body edema and small vessel ischemia. Many patients who develop WKS have a history of serious alcoholism and

  14. Foix-Chavany syndrome

    International Nuclear Information System (INIS)

    Ferrari, G.; Boninsegna, C.; Beltramello, A.

    1979-01-01

    The Foix-Chavany syndrome is a neurological entity characterized by linguo-bucco-facial apraxia almost always caused by disturbed cerebral circulation. Three typical cases of this syndrome are described and the role of the CT scan to obtain a definite diagnosis is emphasized. (orig.) [de

  15. Usher syndrome in Denmark

    DEFF Research Database (Denmark)

    Shzeena, Dad; Rendtorff, Nanna Dahl; Tranebjærg, Lisbeth

    2016-01-01

    BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. METHODS: Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic...

  16. Proteus syndrome in adulthood

    NARCIS (Netherlands)

    Muller, E; Lichtendahl, DHE; Hofer, SOP

    Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983. The authors describe a 37-year-old patient who was diagnosed initially as having

  17. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen

    1986-01-01

    textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous

  18. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried

    2006-09-01

    Full Text Available Abstract Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

  19. Colitis of Behcet's syndrome

    International Nuclear Information System (INIS)

    O'Connell, D.J.; Courtney, J.V.; Riddell, R.H.

    1980-01-01

    Three patients with Behcet's syndrome and colitis are described. The radiologic and histologic appearances of the colitis are discussed. The similarities of Behcet's colitis to Crohn's disease are outlined. The cases demonstrate the necessity to consider Behcet's syndrome in the differential diagnosis of inflammatory bowel disease. (orig.) [de

  20. Trigeminalt trofisk syndrom--

    DEFF Research Database (Denmark)

    Kjaerskov, Mette Wanscher; Bygum, Anette

    2009-01-01

    Trigeminal trophic syndrome (TTS) is a rare but well-described syndrome consisting of the triad: paraesthesia, anaesthesia and crescent-shaped ulceration of the ala nasi. We report a case of a 62-year-old woman presenting with TTS after operative excision of an acusticus neurinoma. She attended s...

  1. Polycystic ovarian syndrome

    OpenAIRE

    Nina Madnani; Kaleem Khan; Phulrenu Chauhan; Girish Parmar

    2013-01-01

    Polycystic ovarian syndrome (PCOS) is a "multispeciality" disorder suspected in patients with irregular menses and clinical signs of hyperandrogenism such as acne, seborrhoea, hirsutism, irregular menses, infertility, and alopecia. Recently, PCOS has been associated with the metabolic syndrome. Patients may develop obesity, insulin resistance, acanthosis nigricans, Type 2 diabetes, dyslipidemias, hypertension, non-alcoholic liver disease, and obstructive sleep apnoea. Good clinical examinatio...

  2. Rothmund - Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma N. L

    2003-01-01

    Full Text Available Rothmund-Thomson syndrome is a rare geno-photodermatosis of children. Poikilodermatous cutaneous changes, growth retardation, juvenile cataract and high incidence of malignancy are its classical features. A Thomson type of Rothmund-Thomson syndrome with characteristic poikiloderma congenitale, growth retardation, absence of juvenile cataract and parental non-consanguinity is described in an 8 year old Indian girl.

  3. Yellow nail syndrome

    Directory of Open Access Journals (Sweden)

    Dixit Ramakant

    2007-01-01

    Full Text Available A case of yellow nail syndrome is described in a forty year old male patient who presented with classical triad of this syndrome i.e. deformed yellow nails, lymph-edema and chronic recurrent pleural effusion. The practical problems in the di-agnosis are also briefly discussed with emphasis on awareness of this rare clinical entity.

  4. [The refeeding syndrome].

    Science.gov (United States)

    Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H

    2015-01-01

    The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms. The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1. There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing. Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations. A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment.

  5. Lumbar dorsal ramus syndrome.

    Science.gov (United States)

    Bogduk, N

    1980-11-15

    Low back pain, referred pain in the lower limbs, and spasm of the back, gluteal, and hamstring muscles are clinical features which can be induced in normal volunteers by stimulating structures which are innervated by the lumbar dorsal rami. Conversely, they can be relieved in certain patients by selective interruption of conduction along dorsal rami. These facts permit the definition of a lumbar dorsal ramus syndrome, which can be distinguished from the intervertebral disc syndrome and other forms of low back pain. The distinguishing feature is that, in lumbar dorsal ramus syndrome, all the clinical features are exclusively mediated by dorsal rami and do not arise from nerve-root compression. The pathophysiology, pathology, and treatment of this syndrome are described. Recognition of this syndrome, and its treatment with relatively minor procedures, can obviate the need for major surgery which might otherwise be undertaken.

  6. Heterogeneity in Waardenburg syndrome.

    Science.gov (United States)

    Hageman, M J; Delleman, J W

    1977-01-01

    Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

  7. Apert syndrome (acrocephalosyndactyly

    Directory of Open Access Journals (Sweden)

    Milovanović J.

    2014-01-01

    Full Text Available Apert syndrome is named for the French physician, Eugen Apert who was, in 1906. described anomalous shape of the skull with coronary suture synostosis and hypoplasia sphenoethmoidmaxillary part of the face and fingers syndactyly of hands and feet. Apert syndrome accounts for about 4,5% of all craniosynostosis. With the prevalence of 1:160 000-200 000, inherited in an autosomal domi­nant, and in 25% of cases are fresh mutations in the gene. This syndrome has no predilection by gender and race, varies in severity form in witch it is manifested. Anomality of internal organs are very rare, but half of the patients with this syndrome have mental retardation. Apert syndrome has no cure, but surgery can help to correct some of the problems.

  8. Neonatal bartter syndrome

    International Nuclear Information System (INIS)

    Parkash, J.; Salat, S. M.; Khan, I.A.

    2006-01-01

    A pre-term baby girl was born following a pregnancy complicated by severe polyhydramnios at a gestational age of 36 weeks. She was initially suffering from respiratory distress consistent with idiopathic respiratory distress syndrome, and altered electrolyte imbalance with hyponatremia, hypokalemia and hypochloremic metabolic alkalosis. However, during the third week of life when she had dehydration along with significant electrolyte imbalance, Bartter's syndrome was considered which was supported by findings of high renin and aldosterone levels. Treatment was done by correction of electrolytes and dehydration along with indomethacin. The drug was well tolerated. The infant showed correction of electrolyte imbalance. The features of this case suggest an extreme form of Bartter's syndrome presenting from the early days of life. The syndrome is reported because of it's rarity and alerts pediatricians to the antenatal and neonatal variant of Bartter's syndrome. (author)

  9. Syndrome in question: Gorlin-Goltz syndrome.

    Science.gov (United States)

    Ribeiro, Pauline Lyrio; Souza, João Basílio de; Abreu, Karina Demoner de; Brezinscki, Marisa Simon; Pignaton, Christine Chambo

    2016-01-01

    The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome.

  10. [Asthenic syndrome in patients with burnout syndrome].

    Science.gov (United States)

    Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

    2013-01-01

    The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

  11. [Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

    Science.gov (United States)

    Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

    2009-02-01

    Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

  12. Coexistence of Reverse Capgras Syndrome, Subjective Double and Cotard Syndrome

    Directory of Open Access Journals (Sweden)

    Azadeh Mashayekhi

    2016-01-01

    Full Text Available Misidentification syndrome is a condition in which the person thinks that familiar persons have been replaced with other one. Coexistence of some types of this syndrome has been reported with other psychiatric syndromes. In this report, we present a 47-year-old married man with coexistence of reverse Capgras and subjective double syndromes with Cotard syndrome. There is no previous report of coexistence of these three forms of delusions in a single case.

  13. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... for This Condition basal cell nevus syndrome BCNS Gorlin-Goltz syndrome NBCCS nevoid basal cell carcinoma syndrome Related Information ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Basal Cell Nevus Syndrome Health Topic: Skin Cancer Genetic and Rare Diseases ...

  14. Sjögren syndrome

    Science.gov (United States)

    Xerostomia - Sjögren syndrome; Keratoconjunctivitis sicca - Sjögren; Sicca syndrome ... The cause of Sjögren syndrome is unknown. It is an autoimmune disorder. This means the body attacks healthy tissue by mistake. The syndrome occurs most ...

  15. Genetics Home Reference: Tourette syndrome

    Science.gov (United States)

    ... and Vocal Tic Disorder Gilles de la Tourette Syndrome Gilles de la Tourette's syndrome GTS TD Tourette Disorder Tourette's Disease TS Related ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Gilles de la Tourette syndrome Health Topic: Tourette Syndrome Genetic and Rare Diseases ...

  16. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Genetic Testing Registry: Rett syndrome Other Diagnosis and Management Resources (4 links) Boston Children's Hospital GeneReview: MECP2-Related Disorders MedlinePlus Encyclopedia: Rett Syndrome RettSyndrome.org: Rett Syndrome Clinics General Information from MedlinePlus (5 links) Diagnostic Tests ...

  17. The Marfan syndrome genetics

    Directory of Open Access Journals (Sweden)

    Galina Pungerčič

    2005-05-01

    Full Text Available Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems.Conclusions: Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfan syndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in the fibrillin-1 gene.

  18. Loin pain hematuria syndrome.

    Science.gov (United States)

    Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans

    2014-09-01

    Loin pain hematuria syndrome is a rare disease with a prevalence of ∼0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis. Copyright © 2014 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  19. Rare case of nephrotic syndrome: Schimke syndrome.

    Science.gov (United States)

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  20. Pediatric Toxic Shock Syndrome

    Directory of Open Access Journals (Sweden)

    Jennifer Yee

    2017-09-01

    Full Text Available Audience: This scenario was developed to educate emergency medicine residents on the diagnosis and management of a pediatric patient with toxic shock syndrome. The case is also appropriate for teaching of medical students and advanced practice providers, as well as a review of the principles of crisis resource management, teamwork, and communication. Introduction: Toxic shock syndrome is a low-frequency, high-acuity scenario requiring timely identification and aggressive management. If patients suffering from this condition are managed incorrectly, they may progress into multi-organ dysfunction and potentially death. Toxic shock syndrome has been associated with Streptococcus and Staphylococcus aureus (Staph. Approximately half of Staph cases are associated with menstruation, which was first described in the 1970s-1980s and was associated with the use of absorbent tampons.1 Group A Streptococcus may cause complications such as necrotizing fasciitis and gangrenous myositis.2 Pediatric patients may present critically ill from toxic shock syndrome. Providers need to perform a thorough history and physical exam to discern the source of infection. Management requires aggressive care with antibiotics and IV fluids. Objectives: By the end of this simulation session, the learner will be able to: 1 Recognize toxic shock syndrome. 2 Review the importance of a thorough physical exam. 3 Discuss management of toxic shock syndrome, including supportive care and the difference in antibiotic choices for streptococcal and staphylococcal toxic shock syndrome. 4 Appropriately disposition a patient suffering from toxic shock syndrome. 5 Communicate effectively with team members and nursing staff during a resuscitation of a critically ill patient. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session and lecture on toxic shock syndrome.

  1. [Norrie syndrome (author's transl)].

    Science.gov (United States)

    Schmitz-Valckenberg, P; Scholz, W

    1977-10-01

    The Norrie syndrome, an x-chromosomal linked, recessive genetic disease, is described using ophthalmologic and genetic examinations of a family in three generations. The main symptom of this syndrome is retinal detachment with hemorrhages, which generally leads to blindness in early childhood. In addition to this, in 25--35% of the cases mental retardation and hearing problems are found. Special significance is to be attached to the differential diagnosis of this syndrome because the vascular proliferation on the retina is a non-specific, secondary reaction in children, which also occurs symptomatically in several other diseases.

  2. Mobious syndrome: MR findings

    Directory of Open Access Journals (Sweden)

    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.

  3. Noonan′s Syndrome

    Directory of Open Access Journals (Sweden)

    Yesudian P Devakar

    1995-01-01

    Full Text Available Noonan’s syndrome is characterized by hypertelorism, webbed neck, curly or wooly hair, congenital heart defects, micrognathia and low set ears. A 15 year old male presented with features of Noonan’s syndrome with hypertelorism, cryptorchidism, low hairline, large and low set ears, curly hair, pulmonary stenosis and lentigenes. This case is presented to alert the physicians towards the occurrence of lentigenes, characteristic facies and pulmonary stenosis in the syndrome. A few hitherto unreported associations like macrothelia and high arched palate were also seen.

  4. [Refeeding syndrome: practical issues].

    Science.gov (United States)

    Buzzi, M; Limonta, A; Pichard, C; Stirnemann, J

    2015-10-14

    The refeeding syndrome is frequent and potentially deadly, still it is underdiagnosed. It is defined by clinical and biological manifestations that are seen upon refeeding of malnourished patients. It is the consequence of the transition from catabolism to anabolism. Ions intracellular shift caused by insulin and B1 vitamin deficiency are fundamental in the development of this syndrome. Riskconditions are well summarized by the NICE criteria. To avoid refeeding syndrome, it is fundamental to find and correct any electrolytic deficiency and to give thiamine before starting a slow and progressive oral, enteral or parenteral refeeding.

  5. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    M K Sunil

    2010-01-01

    Full Text Available Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts, and musculoskeletal malformation. It is occasionally associated with aggressive basal cell carcinoma and internal malignancies. It is about a muttisystemic process characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falxcerebri. Hence, present a case report and a review of Gorlin-Goltz syndrome.

  6. Bouveret's Syndrome: diagnostic considerations

    International Nuclear Information System (INIS)

    Cooper, S.G.; Sherman, S.B.; Steinhardt, J.E.; Wilson, J.M. Jr.; Richman, A.H.

    1987-01-01

    Bouveret's syndrome is a rare disease entity manifested by the formation of a cholecystoduodenal or choledochoduodenal fistula with passage of a gallstone into the duodenal bulb and subsequent obstruction of the gastric outlet. To date, no report of this entity using computed tomographic (CT) imaging is available. This article presents a case of Bouveret's syndrome with the classic findings on upper gastrointestinal (GI) tract series and a description of the CT manifestations. The literature is reviewed with discussion of the diagnostic approach to patients with Bouveret's syndrome

  7. Dostoevsky and Stendhal's syndrome.

    Science.gov (United States)

    Amâncio, Edson José

    2005-12-01

    Stendhal's syndrome occurs among travelers when they encounter a work of art of great beauty. It is characterized by an altered perception of reality, emotional disturbances, and crises of panic and anxiety with somatization. The patient profile described originally for this syndrome was of particularly sensitive individuals who were admirers of works or art: artists, poets, writers and art students, among others. The Russian writer Fyodor Mikhailovich Dostoevsky suffered from epilepsy and there is evidence that he presented the symptoms of Stendahl's syndrome while contemplating some works of art, particularly when viewing Hans Holbein's masterpiece, Dead Christ, during a visit to the museum in Basle.

  8. Lance-adams syndrome.

    Science.gov (United States)

    Shin, Jun-Hwa; Park, Jong Moon; Kim, A Ram; Shin, Hee Suk; Lee, Eun Shin; Oh, Min-Kyun; Yoon, Chul Ho

    2012-08-01

    It is not common for a patient who survives cardiac arrest to experience significant neurologic impairment such as acute and chronic post-hypoxic myoclonus, known as Lance-Adams syndrome. This syndrome is predominantly characterized by myoclonus that starts days to weeks after cardiopulmonary resuscitation in patients who regained consciousness. Although several cases of LAS were reported, the decisive treatment method has not been established. We report a 43 year old man with Lance-Adams syndrome who showed long-term improvement through treatment with anti-myoclonic agents and participation in a rehabilitation program.

  9. Radiology of syndromes

    International Nuclear Information System (INIS)

    Taybi, H.

    1982-01-01

    In the course of 20 years, the author has investigated the radiological aspects of many different syndromes. 541 of them are listed in this book, together with their typical X-ray pictures. Congenital deformities, genetic diseases, and acquired diseases with typical combinations of sigs and symptoms are presented with information on how to identify them. Clinical manifestations are briefly characterized, and hereditary aspects are mentioned. Pathological characteristics and names of the syndromes are presented. A bibliography is given for every syndrome for those who intend to deepen their knowledge. (orig./MG) [de

  10. Bullous Wells’ syndrome

    Directory of Open Access Journals (Sweden)

    Bengu Cevirgen Cemil

    2016-01-01

    Full Text Available Wells’ syndrome (WS is an uncommon inflammatory skin disease which typically presents single or multiple erythematous and edematous urticarial plaques similar to cellulitis. The lesions may evolve into blue-grey morphea-like lesions and may persist for weeks or months. They ultimately heal without scar. Other clinical presentations reported in literature include papular and nodular and, rarely, bullous eruptions. Previously, bullous Wells’ syndrome was rarely reported in the literature. Herein, we describe a case of a female patient with bullous Wells’ syndrome localized to the upper limbs without any associated disorders.

  11. Acute heart failure syndrome

    African Journals Online (AJOL)

    and the classical syndrome of chronic persistent heart failure develops. The vast ... Flash pulmonary oedema: This is a severely elevated blood pressure with an .... (CPAP or bilevelNPPV) for cardiogenic pulmonary edema (review). Cochrane.

  12. Ellis Von Creveld Syndrome

    Directory of Open Access Journals (Sweden)

    Afshar H

    1999-01-01

    Full Text Available One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart"ndisease, ectodermal dysplasia, polyductyly, an abnormally wide labial frenum and maxillary"nmolars with single root.

  13. What Causes Down Syndrome?

    Science.gov (United States)

    ... Division Offices, Branches & Programs Research Areas Training and Recruitment Division of Intramural Research (DIR) Office of the ... launched DS-Connect® as a safe and secure online registry for people with Down syndrome, their families, ...

  14. Ehlers-Danlos' Syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense

    2016-01-01

    Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise diagnostic criteria...

  15. Tropical Diabetic Hand Syndrome

    African Journals Online (AJOL)

    2015 Annals of Medical and Health Sciences Research | Published by Wolters Kluwer - Medknow. 473. Introduction ... diabetes.[2,3] Tropical diabetic hand syndrome is a terminology .... the importance of seeking medical attention immediately.

  16. LEOPARD-syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Risby, Kirsten; Bygum, Anette

    2009-01-01

    We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD sy...... syndrome. We discuss the clinical characteristics of LS, the need for follow-up and genetic counselling, and the molecular-genetic background as well as the relationship to the allelic disease Noonan syndrome. Udgivelsesdato: 2009-Jan-26......We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD...

  17. Acute Coronary Syndrome

    Science.gov (United States)

    ... heart cells are dying. An electrocardiogram (ECG or EKG) can diagnose an acute coronary syndrome by measuring ... Privacy Policy Popular Articles 1 Understanding Blood Pressure Readings 2 Sodium and Salt 3 Heart Attack Symptoms ...

  18. Narcolepsy and ROHHAD Syndrome

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-11-01

    Full Text Available Investigators at Ghent University Hospital, Belgium; Radboud University Nijmegen Medical Centre, and Sleep Medicine Centre, Heeze, Netherlands, report a 7-year-old girl with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD syndrome.

  19. Narcolepsy and ROHHAD Syndrome

    OpenAIRE

    J Gordon Millichap

    2013-01-01

    Investigators at Ghent University Hospital, Belgium; Radboud University Nijmegen Medical Centre, and Sleep Medicine Centre, Heeze, Netherlands, report a 7-year-old girl with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD syndrome).

  20. Ehlers- Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    Prasanta Basak

    1989-01-01

    Full Text Available A female patient had Ehlers-Danlos syndrome type II since infancy, manifesting with hyperextensible skin and ciagarette paper scars at the sites of trauma. Treatment with vitamin C 1 gm a day seemed to be useful.

  1. Ehlers-Danlos syndrome

    Directory of Open Access Journals (Sweden)

    Wakhloo Tulika

    2015-01-01

    Full Text Available Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous inherited connective tissue disorders with widespread manifestations. The prevalence of this syndrome is 1:5000 worldwide without gender, racial or ethnic associations. This syndrome is characterized by joint hypermobility, dermal hyperelasticity and tissue fragility caused by mutations in genes encoding collagen type I, III, V and enzymes involved in the posttranslational modifications of collagen. The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. Children presenting with this syndrome are often misdiagnosed for hematological problem as they present with bruising, malignancy and/or child abuse. A thorough assessment of the patient is, therefore, essential for early diagnosis and patient referral. This paper reviews current literature, oral manifestations, diagnostic investigations and effective dental management.

  2. Dandy-Walker Syndrome

    Science.gov (United States)

    ... treatment options. Other research indicates that mothers with diabetes and those with rubella (German measles) during pregnancy are more likely to have a child with Dandy-Walker syndrome. × What research is being ...

  3. Stuttering and Tourette's Syndrome

    Science.gov (United States)

    ... Adults Teachers Speech-Language Pathologists Physicians Employers Tweet Stuttering and Tourette's Syndrome Parents of Preschoolers Parents of ... to 3 people in 1000. Just as in stuttering, TS is more common in males than females ( ...

  4. Klinefelter Syndrome (For Teens)

    Science.gov (United States)

    ... role in who we are — including deciding our gender, how we look, and how we grow. Doctors ... boys with Klinefelter syndrome are less interested in sports or physical activities. Since high-school life often ...

  5. Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    Priya Shirish Joshi

    2012-01-01

    Full Text Available Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31 and loss or mutations of human patched gene (PTCH1 gene. Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases.

  6. Exploding head syndrome.

    Science.gov (United States)

    Sharpless, Brian A

    2014-12-01

    Exploding head syndrome is characterized by the perception of abrupt, loud noises when going to sleep or waking up. They are usually painless, but associated with fear and distress. In spite of the fact that its characteristic symptomatology was first described approximately 150 y ago, exploding head syndrome has received relatively little empirical and clinical attention. Therefore, a comprehensive review of the scientific literature using Medline, PsycINFO, Google Scholar, and PubMed was undertaken. After first discussing the history, prevalence, and associated features, the available polysomnography data and five main etiological theories for exploding head syndrome are summarized. None of these theories has yet reached dominance in the field. Next, the various methods used to assess and treat exploding head syndrome are discussed, as well as the limited outcome data. Finally, recommendations for future measure construction, treatment options, and differential diagnosis are provided. Copyright © 2014 Elsevier Ltd. All rights reserved.

  7. Cardiopulmonary Syndrome Overview

    Science.gov (United States)

    ... Data Conducting Clinical Trials Statistical Tools and Data Terminology Resources NCI Data Catalog Cryo-EM NCI's Role ... cava syndrome in a child is a serious medical emergency because the child's windpipe can become blocked. ...

  8. Proteus Syndrome Foundation

    Science.gov (United States)

    ... Syndrome Diagnostic Criteria & FAQs Medical Research Glossary Donate Cash Donation Life Insurance Gift Matching Gift Stock Gift ... data It’s easy to join There is no cost to you: the costs are supported by the ...

  9. Cri du chat syndrome

    Science.gov (United States)

    ... the ear Slow or incomplete development of motor skills Small head ( microcephaly ) Small jaw ( micrognathia ) Wide-set ... of children with this syndrome learn enough verbal skills to communicate. The cat-like cry becomes less ...

  10. Stevens-Johnson Syndrome

    Science.gov (United States)

    ... after blisters form If you have Stevens-Johnson syndrome, several days before the rash develops you may experience: Fever Sore mouth and throat Fatigue Cough Burning eyes When to see a doctor Stevens-Johnson ...

  11. Congenital Constriction Band Syndrome

    OpenAIRE

    Rajesh Gupta, Fareed Malik, Rishabh Gupta, M.A.Basit, Dara Singh

    2008-01-01

    Congenital constriction bands are anomalous bands that encircle a digit or an extremity. Congenitalconstriction band syndrome is rare condition and is mostly associated with other musculoskeletaldisorders.We report such a rare experience.

  12. Computer Vision Syndrome.

    Science.gov (United States)

    Randolph, Susan A

    2017-07-01

    With the increased use of electronic devices with visual displays, computer vision syndrome is becoming a major public health issue. Improving the visual status of workers using computers results in greater productivity in the workplace and improved visual comfort.

  13. Esthesioneuroblastoma in Maffucci's syndrome

    International Nuclear Information System (INIS)

    Kurian, Sobha; Crowell, Edward B.; Ertan, Esmer; Rassekh, Christopher; Ducatman, Barbara

    2004-01-01

    Maffucci's syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. We report a case of a 33-year-old man with Maffucci's syndrome who presented with a several month history of nasal congestion, facial pain, and diminished vision in his left eye. Radiological studies showed a large soft tissue mass centered in the sinonasal area, extending bilaterally into maxillary sinuses and orbits with compression of left optic nerve. Biopsy of the mass showed esthesioneuroblastoma (olfactory neuroblastoma). Chemotherapy resulted in initial improvement, but the tumor recurred and did not respond to further treatment, resulting in his death. Sarcomatous tumors are reported in Maffucci's syndrome, but this is a rare case of a neuroendocrine tumor in a patient with Maffucci's syndrome. (orig.)

  14. Blind loop syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001146.htm Blind loop syndrome To use the sharing features on ... Clinical Professor of Medicine, The George Washington University School of Medicine, Washington, DC. Also reviewed by David ...

  15. 47,XXY Klinefelter syndrome

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander

    2013-01-01

    47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure...... with small testes, hypergonadotropic hypogonadism, tall stature, and eunuchoid body proportions. The phenotype is variable ranging from "near-normal" to a significantly affected individual. In addition, newborns with Klinefelter syndrome generally present with a normal male phenotype and the only consistent...... clinical finding in KS is small testes, that are most often not identified until after puberty. Decreased awareness of this syndrome among health professionals and a general perception that all patients with 47,XXY exhibit the classic textbook phenotype results in a highly under-diagnosed condition with up...

  16. Catastrophic Antiphospholipid Syndrome

    Directory of Open Access Journals (Sweden)

    Rawhya R. El-Shereef

    2016-01-01

    Full Text Available This paper reports one case of successfully treated patients suffering from a rare entity, the catastrophic antiphospholipid syndrome (CAPS. Management of this patient is discussed in detail.

  17. Meier-Gorlin syndrome

    NARCIS (Netherlands)

    Munnik, S.A. de; Hoefsloot, E.H.; Roukema, J.; Schoots, J.; Knoers, N.V.A.M.; Brunner, H.G.; Jackson, A.P.; Bongers, E.M.H.F.

    2015-01-01

    Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females

  18. Parental Alienation Syndrome

    Directory of Open Access Journals (Sweden)

    Fuat Torun

    2011-09-01

    Full Text Available Children who have been programmed by one parent to be alienated from the other parent are commonly seen in the context of child-custody disputes. Its primary manifestation is the child’s campaign of denigration against a parent, a campaign that has no justification. It is said to result from a combination of a programming (brainwashing parent’s indoctrinations and the child’s own contributions to the vilification of the targeted parent. Many evaluators use the term parental alienation syndrome to refer to the disorder engendered in such children. However, there is significant controversy going on about the validity of parental alienation syndrome. The purpose of this article has been to describe and help to differentiate parental alienation syndrome and abuse for mental health professionals working in the field, and discuss the arguments about the validity of this syndrome.

  19. Sun and Sjogren's Syndrome

    Science.gov (United States)

    Patient Education Sheet The Sun and Sjögren’s Syndrome The SSF thanks Mona Z. Mofid, MD, FAAD, Diplomate, American Board of Dermatology, and Medical Director, American Melanoma Foundation, San Diego, California, ...

  20. Learning about Klinefelter Syndrome

    Science.gov (United States)

    Skip to main content Learning About Klinefelter Syndrome Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research ...

  1. Learning about Turner Syndrome

    Science.gov (United States)

    Skip to main content Learning About Turner Syndrome Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research News Features Funding Divisions Funding ...

  2. Children with Usher syndrome

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    Background: Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods: This article investigates the prevalence and characteristics of mental and behavioral...... disorders among 26 children, 3-17 years of age, with Usher syndrome. Results: Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation......, 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion: Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral...

  3. Joubert Syndrome, A Ciliopathy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-10-01

    Full Text Available Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS development.

  4. Organic brain syndrome

    Science.gov (United States)

    ... DRUG AND ALCOHOL-RELATED CONDITIONS Alcohol withdrawal state Intoxication from drug or alcohol use Wernicke-Korsakoff syndrome ( ... Late-stage syphilis Complications of cancer can also lead to neurocognitive disorder. Other conditions that may mimic ...

  5. Aging and Down Syndrome

    Science.gov (United States)

    ... to be aw are of the connec tion bet ween Down syndrome and Alzheimer ’s disea se so ... albeing cared for. Make aneffor tto be proactive, thinking ahead to anticipate needs and concerns. x x ...

  6. Costello syndrome: An overview

    NARCIS (Netherlands)

    Hennekam, Raoul C. M.

    2003-01-01

    Costello syndrome is characterized by prenatally increased growth, postnatal growth retardation, coarse face, loose skin resembling cutis laxa, nonprogressive cardiomyopathy, developmental delay, and a outgoing, friendly behavior. Patients can develop papillomata, especially around the mouth, and

  7. Empty Sella Syndrome

    Science.gov (United States)

    ... Publications Definition Empty Sella Syndrome (ESS) is a disorder that involves the sella turcica , a bony structure at the base of the brain that surrounds and protects the pituitary gland. ESS is often discovered during radiological imaging tests ...

  8. Prader-Willi Syndrome

    Science.gov (United States)

    ... syndrome can be helpful in genetic counseling. Complications Obesity-related complications In addition to having constant hunger, ... with this disorder are unable to have children. Osteoporosis. Osteoporosis causes bones to become weak and brittle, ...

  9. Vogt koyanagi harada syndrome

    Directory of Open Access Journals (Sweden)

    Amin S

    1992-01-01

    Full Text Available A case of Vogt Koyanagi Harada syndrome is reported. The depigmented macules appeared initially over eyebrows and around both eyes after an episode of fever and then rapidly involved almost the entire body within 6 months.

  10. Wolf-Hirschhorn Syndrome

    African Journals Online (AJOL)

    Extract Studio

    she had the distinctive facial features of Wolf-Hirschhorn syndrome that included hyperteleorism, ... The PDA noted at birth had closed by 3 months and there was no other cardiac .... followed by pulmonary stenosis, ventricular septal defects,.

  11. Det hepatopulmonale syndrome

    DEFF Research Database (Denmark)

    Eibye, Simone; Christensen, Erik

    2016-01-01

    The hepatopulmonary syndrome (HPS) - a complication of liver disease - seems to be underdiagnosed, probably because of decreased awareness. HPS consists of the triade liver disease, intrapulmonary vascular dilatation and as a consequence arterial hypoxaemia. No medical therapy has proven effective...

  12. Lennox-Gastaut Syndrome

    Science.gov (United States)

    ... and supports a broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed at finding the causes of these disorders, improving ... Publications Definition Lennox- ...

  13. RESTLESS LEGS SYNDROME

    Directory of Open Access Journals (Sweden)

    Dmitriy Valer'evich Artem'ev

    2009-01-01

    Full Text Available The paper describes the epidemiology, etiology, pathogenesis, clinical picture, diagnosis, differential diagnosis, and treatment of restless legs syndrome. Recommendations are given how to choose therapeutic modalities and drugs in relation to different factors.

  14. Facts About Usher Syndrome

    Science.gov (United States)

    ... to abnormal development of the vestibular hair cells, sensory cells that detect gravity and head movement. RP ... 3 Ben-Rebeh, I., et al. (2016). Genetic analysis of Tunisian families with Usher syndrome type 1: ...

  15. Garcin syndrome with hypopituitarism

    International Nuclear Information System (INIS)

    Abe, K.; Mezaki, T.; Hirono, N.; Udaka, F.; Kameyama, M.

    1988-01-01

    We report a Garcin syndrome due to nasopharyngeal carcinoma invading the skull base. MR imaging of this patient shows the position of the tumour and reveals how to the tumor invaded the skull and the effect of treatment. (orig.)

  16. Bardet-Biedl Syndrome

    Science.gov (United States)

    ... Linked Retinoschisis (XLRS) X-Linked Retinitis Pigmentosa (XLRP) Usher Syndrome Other Retinal Diseases Glossary News & Research News & Research ... the autosomal recessive pattern of inheritance. In this type of inheritance both parents, called carriers, have one ...

  17. Abdominal Compartment Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2015-04-01

    Full Text Available Intraabdominal hypertension and Abdominal compartment syndrome are causes of morbidity and mortality in critical care patients. Timely diagnosis and treatment may improve organ functions. Intra-abdominal pressure monitoring is vital during evaluation of the patients and in the management algorithms. The incidence, definition and risk factors, clinical presentation, diagnosis and management of intraabdominal hypertension and Abdominal compartment syndrome were reviewed here.

  18. Juvenile polyposis syndrome

    OpenAIRE

    Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan

    2016-01-01

    Abstract Background: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. Methods: We report a rare case of an 8-month-old male...

  19. Shah-Waardenburg syndrome.

    Science.gov (United States)

    Mahmoudi, Abdelhalim; Rami, Mohamed; Khattala, Khalid; Elmadi, Aziz; Afifi, My Abderrahmane; Youssef, Bouabdallah

    2013-01-01

    Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities.

  20. Hennekam lymphangiectasia syndrome

    Science.gov (United States)

    Lakshminarayana, G.; Mathew, A.; Rajesh, R.; Kurien, G.; Unni, V. N.

    2011-01-01

    Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia syndrome with anodontia to be reported from India. PMID:22022089

  1. Ellis Van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Shilpy S

    2007-05-01

    Full Text Available Ellis Van Creveld syndrome is a rare disorder and is a form of short-limbed dwarfism. It is an autosomal recessive disorder characterized by tetrad of disproportionate dwarfism, post-axial polydactyly, ectodermal dysplasia and heart defects. This case report presents a classical case of a seven-year-old boy with Ellis Van Creveld syndrome presented with discrete clinical findings.

  2. Gorlin-Goltz syndrome:

    OpenAIRE

    Binić, Ivana; Jovanović, Dragan L.; Ljubenović, Dragiša; Ljubenović, Milanka; Stanojević, Milenko

    2007-01-01

    Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. The authors present a case of an 11-year-old girl with typical features of Gorlin-Goltz syndrome with special respect to medical and dental problems which include multiple bony cage deformities like spina bifida with scoliosis having convexity to the left side, presence of an infantile uterus and multiple odonogenic keratocysts in the maxillofacial region.

  3. [The exploding head syndrome].

    Science.gov (United States)

    Bongers, K M; ter Bruggen, J P; Franke, C L

    1991-04-06

    The case is reported of a 47-year old female suffering from the exploding head syndrome. This syndrome consists of a sudden awakening due to a loud noise shortly after falling asleep, sometimes accompanied by a flash of light. The patient is anxious and experiences palpitations and excessive sweating. Most patients are more than fifty years of age. Further investigations do not reveal any abnormality. The pathogenesis is unknown, and no therapy other than reassurance is necessary.

  4. Horner syndrome: clinical perspectives

    Science.gov (United States)

    Kanagalingam, Sivashakthi; Miller, Neil R

    2015-01-01

    Horner syndrome consists of unilateral ptosis, an ipsilateral miotic but normally reactive pupil, and in some cases, ipsilateral facial anhidrosis, all resulting from damage to the ipsilateral oculosympathetic pathway. Herein, we review the clinical signs and symptoms that can aid in the diagnosis and localization of a Horner syndrome as well as the causes of the condition. We emphasize that pharmacologic testing can confirm its presence and direct further testing and management. PMID:28539793

  5. CT of Mirizzi syndrome

    International Nuclear Information System (INIS)

    Yamamoto, Shinichiro; Fukushima, Keisuke; Ishihara, Kenji; Hirano, Yutaka; Sano, Kaizo

    1983-01-01

    PTC or ERCP findings of four cases of Mirizzi syndrome were demonstrated. They consisted of a smooth stricture of the common hepatic duct, curved impressions of the duct and dilatation of proximal biliary radicles. CT could visualize the impacted stone in the neck of the gallbladder, dilatation of proximal common hepatic and intrahepatic duct. Absence of the dilatation of distal common bile duct could also be confirmed by CT, thus the diagnosis of Mirizzi syndrome might be possible by CT. (author)

  6. Cardiorenal syndrome: therapeutical challenge

    OpenAIRE

    Lopes, Sara Cristina Cerqueira

    2016-01-01

    Cardiorenal syndrome is described by the coexistence of cardiac and renal disease on the same individual, and it can affect both dogs and cats. The most consensual definition describes it as a “pathophysiologic disorder of the heart and kidneys whereby acute or chronic dysfunction of one of the organs causes acute or chronic dysfunction of the other”. The interest, recognition of the importance and prevailing of this syndrome in veterinary medicine has grown and, recently, a committee of ...

  7. Michelin tire baby syndrome

    Directory of Open Access Journals (Sweden)

    Rita V Vora

    2016-01-01

    Full Text Available Michelin tire baby syndrome (MTBS, is a rare genodermatosis, characterized by generalized folding of excess skin and may be associated with various phenotypic abnormalities. The pathogenesis of this condition is unclear. Various congenital anomalies can be associated with it. It may be a clinical finding associated with various syndromes. Diagnosis is mainly clinical, and skin folds gradually diminish and disappear with age without any intervention. Here, we report a case of MTBS associated with convergent squint and hydrocephaly.

  8. Mills’ syndrome: case report

    OpenAIRE

    Henrique de Gobbi Porto, Fábio; Orsini, Marco; Antônio Araújo Leite, Marco; Moreira dos Santos, José; Pulier, Soraia; Mello, Mariana; Nascimento, Osvaldo J.M.

    2009-01-01

    The syndrome of progressive, ascending or descending hemiplegia, with no significant sensory impairment was first describes by Mills in 1900, which several cases were reported later. However after diagnostic tests and image improvements, the number of reports has shortened. A possible explanation for this shortage is the identification of other diseases that could mimic the clinical picture. Currently, the syndrome has an uncertain nosological status, since it was described based on clinical ...

  9. Polycystic Ovary Syndrome

    OpenAIRE

    McCartney, Christopher R.; Marshall, John C.

    2016-01-01

    Polycystic ovary syndrome is a condition in which a woman has an imbalance of female sex hormones. This may lead to menstrual cycle changes, cysts in the ovaries, trouble getting pregnant, and other health changes. In PCOS, mature eggs are not released from the ovaries. Instead, they can form very small cysts in the ovary. These changes can contribute to infertility. Common symptoms of PCOS include Menstrual disorders, Infertility, High levels of testosterone and Metabolic syndrome. Obesity, ...

  10. Popliteal artery entrapment syndrome.

    LENUS (Irish Health Repository)

    O'Leary, D P

    2010-01-01

    Popliteal artery entrapment syndrome is a rare abnormality of the anatomical relationship between the popliteal artery and adjacent muscles or fibrous bands in the popliteal fossa. The following is a case report of a 19 year old female, in whom popliteal artery entrapment syndrome was diagnosed, and successfully treated surgically. A review of literature is also presented and provides details on how PAES is classified, diagnosed both clinically and radiologically, and treated surgically.

  11. Unmasking diogenes syndrome

    Directory of Open Access Journals (Sweden)

    Kashinath Nayak

    2015-01-01

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

  12. Ketonuria and HELLP syndrome.

    Science.gov (United States)

    Gubbala, Phanendra Kumar; Karoshi, Mahantesh; Zakaria, Faris

    2009-01-01

    We recently managed a patient with the HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelet count) where there was a delay in diagnosis due to gastroenteritis. This case also reiterates the varied or lack of symptomatology in patients developing HELLP and obscuring the initial diagnosis. Patients with HELLP syndrome have significant maternal morbidity and mortality, hence clinical vigilance and high suspicion play a key role in the diagnosis and subsequent management.

  13. Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

    Directory of Open Access Journals (Sweden)

    Tullu M

    2000-04-01

    Full Text Available Neurofibromatosis (NF, Noonan syndrome (NS, and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the ′Neurofibromatosis-Noonan syndrome′ (NF-NS. The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.

  14. Unusual headache syndromes.

    Science.gov (United States)

    Queiroz, Luiz P

    2013-01-01

    Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis, and treatment may have not been completely defined. They may not actually be uncommon but rather under-recognized and/or underreported. A literature review of unusual headache syndromes, searching PubMed and ISI Web of Knowledge, was performed. After deciding which disorders to study, relevant publications in scientific journals, including original articles, reviews, meeting abstracts, and letters or correspondences to the editors were searched. This paper reviewed the clinical characteristics, the pathogenesis, the diagnosis, and the treatment of five interesting and unusual headache syndromes: exploding head syndrome, red ear syndrome, neck-tongue syndrome, nummular headache, and cardiac cephalgia. Recognizing some unusual headaches, either primary or secondary, may be a challenge for many non-headache specialist physicians. It is important to study them because the correct diagnosis may result in specific treatments that may improve the quality of life of these patients, and this can even be life saving. © 2013 American Headache Society.

  15. Sleep overlap syndrome

    Directory of Open Access Journals (Sweden)

    Fariba Rezaeetalab

    2016-12-01

    Full Text Available Overlap syndrome, which is known as the coexistence of chronic obstructive pulmonary disease (COPD and obstructive sleep apnea (OSA, was first defined by Flenley. Although it can refer to concomitant occurrence of any of the pulmonary diseases and OSA, overlap syndrome is commonly considered as the coexistence of OSA and COPD. This disease has unique adverse health consequences distinct from either condition alone. Given the high prevalence of each solitary disease, overlap syndrome is also likely to be common and clinically relevant. Despite the fact that overlap syndrome has been described in the literature for nearly 30 years, paucity of evaluations and studies limited the discussion on diagnosis, prevalence, pathophysiology, treatment, and outcomes of this disease. This review article addresses these issues by reviewing several recent studies conducted in Iran or other countries. This review suggests that overlap syndrome has worse outcomes than either disease alone. Our findings accentuated the urgent need for further studies on overlap syndrome and all overlaps between OSA and chronic pulmonary disease to provide a deeper insight into diagnosis and non-invasive treatments of this disease.

  16. Abdominal vascular syndromes: characteristic imaging findings

    International Nuclear Information System (INIS)

    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) - 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)

  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. The Greig cephalopolysyndactyly syndrome

    Directory of Open Access Journals (Sweden)

    Biesecker Leslie G

    2008-04-01

    Full Text Available Abstract The Greig cephalopolysyndactyly syndrome (GCPS is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1–9/1,000,000. The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or

  19. Mobius syndrome redefined: a syndrome of rhombencephalic maldevelopment.

    NARCIS (Netherlands)

    Verzijl, H.T.F.M.; Zwaag, A. van der; Cruysberg, J.R.M.; Padberg, G.W.A.M.

    2003-01-01

    OBJECTIVE: To investigate the variable clinical picture of Mobius syndrome (MIM no. 157900) and to further understand the pathogenesis of the disorder. METHODS: A standardized questionnaire was submitted to 37 Dutch patients with Mobius syndrome. All underwent standardized neurologic examination

  20. Hypokalaemia: Bartter's syndrome or pseudo-Bartter's syndrome?

    OpenAIRE

    Robb, J D; Delargy, M A; Nolan, M; Tomkin, G H

    1984-01-01

    The difficulties in the diagnosis of hypokalaemia are often considerable. This paper reports three patients who presented with hypokalaemia. Investigations are described which may help to distinguish Bartter's syndrome from pseudo-Bartter's syndrome.

  1. Dysmobility syndrome: current perspectives

    Directory of Open Access Journals (Sweden)

    Hill KD

    2017-01-01

    Full Text Available Keith D Hill,1 Kaela Farrier,1 Melissa Russell,2 Elissa Burton1 1School of Physiotherapy and Exercise Science, Faculty of Health Sciences, Curtin University, Perth, WA, Australia; 2Department of Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia Background: A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome.Method: All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest, CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized.Results: The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study. No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%–34% in three of the studies. Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality.Conclusion: Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome. Keywords: mobility, elderly, functional decline

  2. Nevoid basal cell carcinoma syndrome (Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Lo Muzio Lorenzo

    2008-11-01

    Full Text Available Abstract Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs, odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies. Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling. Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome. Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser

  3. Congenital Heart Diseases associated with Identified Syndromes ...

    African Journals Online (AJOL)

    Recognised syndromes were seen in 69(68%) cases. Down syndrome with 54 children contributed 78.3% of those with known syndromes. Other identified syndromes and associations were Marfan's, Noonan's, Edwards, Prune Belly, Apert, Ellis-van creveld syndrome and congenital rubella syndrome. Congenital heart ...

  4. Enamel renal syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    S V Kala Vani

    2012-01-01

    Full Text Available Enamel renal syndrome is a very rare disorder associating amelogenesis imperfecta with nephrocalcinosis. It is known by various synonyms such as amelogenesis imperfecta nephrocalcinosis syndrome, MacGibbon syndrome, Lubinsky syndrome, and Lubinsky-MacGibbon syndrome. It is characterized by enamel agenesis and medullary nephrocalcinosis. This paper describes enamel renal syndrome in a female patient born in a consanguineous family.

  5. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    Science.gov (United States)

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  6. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

    OpenAIRE

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  7. Pre-Menstrual Syndrome in Women with Down Syndrome

    Science.gov (United States)

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  8. Wells syndrome and its relationship to Churg-Strauss syndrome.

    Science.gov (United States)

    Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

    2013-08-01

      Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

  9. Hypothyroidism in metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Sunil Kumar Kota

    2012-01-01

    Full Text Available Aim: Metabolic syndrome (MetS and hypothyroidism are well established forerunners of atherogenic cardiovascular disease. Considerable overlap occurs in the pathogenic mechanisms of atherosclerotic cardiovascular disease by metabolic syndrome and hypothyroidism. Insulin resistance has been studied as the basic pathogenic mechanism in metabolic syndrome. [1] This cross sectional study intended to assess thyroid function in patients with metabolic syndrome and to investigate the association between hypothyroidism and metabolic syndrome. Materials and Methods: One hundred patients with metabolic syndrome who fulfilled the National Cholesterol Education Program- Adult Treatment Panel (NCEP-ATP III criteria [ 3 out of 5 criteria positive namely blood pressure ≥ 130/85 mm hg or on antihypertensive medications, fasting plasma glucose > 100 mg/dl or on anti-diabetic medications, fasting triglycerides > 150 mg/dl, high density lipoprotein cholesterol (HDL-C 102 cms in men and 88 cms in women] were included in the study group. [2] Fifty patients who had no features of metabolic syndrome (0 out of 5 criteria for metabolic syndrome were included in the control group. Patients with liver disorders, renal disorders, congestive cardiac failure, pregnant women, patients on oral contraceptive pills, statins and other medications that alter thyroid functions and lipid levels and those who are under treatment for any thyroid related disorder were excluded from the study. Acutely ill patients were excluded taking into account sick euthyroid syndrome. Patients were subjected to anthropometry, evaluation of vital parameters, lipid and thyroid profile along with other routine laboratory parameters. Students t-test, Chi square test and linear regression, multiple logistic regression models were used for statistical analysis. P value < 0.05 was considered significant. Results: Of the 100 patients in study group, 55 were females (55% and 45 were males (45%. Of the 50

  10. Juvenile polyposis syndrome

    Science.gov (United States)

    Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan

    2016-01-01

    Abstract Background: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. Methods: We report a rare case of an 8-month-old male infant who presented with chronic anemia and gastrointestinal bleeding initially. Panendoscopy and abdominal computed tomography showed multiple polyposis throughout the entire alimentary tract leading to intussusception. Technetium-99m-labeled red blood cell (RBC) bleeding scan revealed the possibility of gastrointestinal tract bleeding in the jejunum. Histopathological examination on biopsy samples showed Peutz-Jeghers syndrome was excluded, whereas the diagnosis of juvenile polyposis syndrome was established. Results: Enteroscopic polypectomy is the mainstay of the treatment. However, polyps recurred and occupied the majority of the gastrointestinal tract in 6 months. Supportive management was given. The patient expired for severe sepsis at the age of 18 months. Conclusion: Juvenile polyposis syndrome is an inherited disease, so it is not possible to prevent it. Concerning of its poor outcome and high mortality rate, it is important that we should increase awareness and education of the parents at its earliest stages. PMID:27631205

  11. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  12. Progestogens and Cushing's syndrome.

    LENUS (Irish Health Repository)

    Harte, C

    2012-02-03

    We report 3 patients where Medroxyprogesterone Acetate (MPA = Provera) and Megestrol Acetate (Megace) in doses used for therapy of breast cancer, caused clinical hypercortisolism and Cushing\\'s syndrome. Studies of the toxicity of Medroxyprogesterone Acetate list the commonest adverse events at 500 mg\\/day as weight gain, water retention, increased blood pressure, tremor, moon face, sweating, muscle cramps, vaginal bleeding and increased appetite. Glucocorticoid-like effects are seen in up to 30% of patients treated for longer than 6 weeks with mostly large doses of the order of 1500 mg\\/day but Cushing\\'s syndrome has been reported in patients taking 400 mg\\/day. Neither the glucocorticoid-like effects or Cushing\\'s syndrome have been previously observed with Megestrol Acetate. In the elderly female population receiving progestogens for neoplastic disease the progestogen itself could be an appreciable cause of morbidity both by causing glucocorticoid-like effects and Cushing\\'s syndrome but also by lack of awareness of the danger of sudden withdrawal of these compounds when the hypothalmic-pituitary-adrenal (HPA) axis is suppressed. The signs and symptoms could be easily overlooked unless appropriate testing for Cushing\\'s syndrome is carried out. While the progestogen may have to be continued indefinitely a dose decrease may be feasible with reduction of morbidity.

  13. Facet joint syndrome

    International Nuclear Information System (INIS)

    Zigrai, M.; Zakovic, J.; Brezinova, M.; Pavlovicova, M.

    2002-01-01

    It is the purpose of the study to demonstrate the clinical relevance of degenerative changes in the facet joint of patients with low back pain irradiating to the lower extremities, and discuss some problems relating to diagnosis and different diagnosis. 119 patients presenting the listed bellow syndromes are covered by the study: scoliosis, polytopic pain vertebral syndrome, paresis and history of trauma. all patients undergo comprehensive neurological examination with special attention focused on the spine: CT and plain x-rays are taken of the lumbosacral segment to assess the condition of the facet joints. The neurological examination demonstrates in all cases pain syndrome in the lumbar spine referred to one or both lower extremities. In 56% it is a matter of persisting pain, and in 44% - recurrent. More than half of the patients complain of sacroiliac (SI) dislocation and palpatory pain. Unilateral or bilateral degenerative changes are documented by imaging studies in all patients, including: subchondral thickening, osteopathy narrowing the lateral or central part of the spinal canal with ensuing nerve root compression. The lumbosacral zygoapophyseal joints are source of pseudoradicular pain. A correlation between clinical picture and GT changes is noted in all patients with facet joint syndrome. CT is an indispensable method in diagnosing facet joint syndrome. (authors)

  14. Genetics Home Reference: Noonan syndrome

    Science.gov (United States)

    ... growth spurt that results in shortened stature. Most males with Noonan syndrome have undescended testes (cryptorchidism), which may contribute to infertility (inability to father a child) later in life. Females with Noonan syndrome can experience delayed puberty but ...

  15. POLYCYSTIC OVARY SYNDROME IN ADOLESCENCE

    Directory of Open Access Journals (Sweden)

    Diana Baptista

    2017-02-01

    Conclusion: Identification of adolescents at risk for Polycystic Ovary Syndrome is critical, not only for an appropriate therapeutic approach, but also to prevent co-morbidities associated with the syndrome, including obesity, insulin resistance, dyslipidemia and infertility.

  16. Genetics Home Reference: Tietz syndrome

    Science.gov (United States)

    ... represent a severe form of a disorder called Waardenburg syndrome , which can also be caused by MITF gene ... MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. Eur J Hum Genet. 2012 May;20(5): ...

  17. Genetics Home Reference: Roberts syndrome

    Science.gov (United States)

    ... feet are located very close to the body (phocomelia). People with Roberts syndrome may also have abnormal ... may live into adulthood. A condition called SC phocomelia syndrome was originally thought to be distinct from ...

  18. Bacterial tracheitis in Down's syndrome.

    OpenAIRE

    Cant, A J; Gibson, P J; West, R J

    1987-01-01

    Four children with Down's syndrome and bacterial tracheitis are described. In three the infection was due to Haemophilus influenza. In patients with Down's syndrome presenting with stridor tracheitis should be considered and appropriate treatment started.

  19. Genetics Home Reference: Sotos syndrome

    Science.gov (United States)

    ... gene are the primary cause of Sotos syndrome , accounting for up to 90 percent of cases. Other ... Sotos syndrome cases occur in people with no history of the disorder in their family. Most of ...

  20. Genetics Home Reference: Fraser syndrome

    Science.gov (United States)

    ... FRAS1 gene mutations are the most common cause, accounting for about half of cases of Fraser syndrome . ... Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse ...

  1. Genetics Home Reference: Jacobsen syndrome

    Science.gov (United States)

    ... compulsive behavior (such as shredding paper), a short attention span, and easy distractibility. Many people with Jacobsen syndrome have been diagnosed with attention deficit-hyperactivity disorder (ADHD). Jacobsen syndrome is also ...

  2. Refeeding syndrome: a clinical review.

    Science.gov (United States)

    Ormerod, Clare; Farrer, Kirstine; Harper, Lindsay; Lal, Simon

    2010-12-01

    Refeeding syndrome can result in a wide variety of complications and may be life threatening. Although well described in hospital practice, refeeding syndrome is often under-recognized and inadequately treated.

  3. Review of the refeeding syndrome.

    Science.gov (United States)

    Kraft, Michael D; Btaiche, Imad F; Sacks, Gordon S

    2005-12-01

    Refeeding syndrome describes a constellation of metabolic disturbances that occur as a result of reinstitution of nutrition to patients who are starved or severely malnourished. Patients can develop fluid and electrolyte disorders, especially hypophosphatemia, along with neurologic, pulmonary, cardiac, neuromuscular, and hematologic complications. We reviewed literature on refeeding syndrome and the associated electrolyte abnormalities, fluid disturbances, and associated complications. In addition to assessing scientific literature, we also considered clinical experience and judgment in developing recommendations for prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk for developing refeeding syndrome, institute nutrition support cautiously, and correct and supplement electrolyte and vitamin deficiencies to avoid refeeding syndrome. We provide suggestions for the prevention of refeeding syndrome and suggestions for treatment of electrolyte disturbances and complications in patients who develop refeeding syndrome, according to evidence in the literature, the pathophysiology of refeeding syndrome, and clinical experience and judgment.

  4. ARDS (Acute Respiratory Distress Syndrome)

    Science.gov (United States)

    ... Also known as What Is ARDS, or acute respiratory distress syndrome, is a lung condition that leads ... treat ARDS. Other Names Acute lung injury Adult respiratory distress syndrome Increased-permeability pulmonary edema Noncardiac pulmonary ...

  5. Severe acute respiratory syndrome (SARS)

    Science.gov (United States)

    SARS; Respiratory failure - SARS ... Complications may include: Respiratory failure Liver failure Heart failure ... 366. McIntosh K, Perlman S. Coronaviruses, including severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome (MERS). ...

  6. Middle East Respiratory Syndrome (MERS)

    Science.gov (United States)

    Middle East Respiratory Syndrome Coronavirus; MERS-CoV; Novel coronavirus; nCoV ... for Disease Control and Prevention website. Middle East Respiratory Syndrome (MERS): Frequently asked questions and answers. www. ...

  7. Latah: an Indonesian startle syndrome

    NARCIS (Netherlands)

    Bakker, Mirte J.; van Dijk, J. Gert; Pramono, Astuti; Sutarni, Sri; Tijssen, Marina A. J.

    2013-01-01

    The nature of culture-specific startles syndromes such as "Latah" in Indonesia and Malaysia is ill understood. Hypotheses concerning their origin include sociocultural behavior, psychiatric disorders, and neurological syndromes. The various disorders show striking similarities despite occurring in

  8. Latah : An indonesian startle syndrome

    NARCIS (Netherlands)

    Bakker, Mirte J.; van Dijk, J. Gert; Pramono, Astuti; Sutarni, Sri; Tijssen, Marina A. J.

    The nature of culture-specific startles syndromes such as Latah in Indonesia and Malaysia is ill understood. Hypotheses concerning their origin include sociocultural behavior, psychiatric disorders, and neurological syndromes. The various disorders show striking similarities despite occurring in

  9. Klinefelter Syndrome (KS): Condition Information

    Science.gov (United States)

    ... Condition Information Share Facebook Twitter Pinterest Email Print Klinefelter Syndrome (KS): Condition Information What is KS? The term " ... such as XXYY. This is called poly-X Klinefelter syndrome, and it causes more severe symptoms. 1 Klinefelter, ...

  10. The syndromic child and anaesthesia

    African Journals Online (AJOL)

    fourth and sixth arches give rise to the larynx and trachea, and ... Keywords: anaesthesia, syndrome, atlantoaxial joint, branchial arches, Down's syndrome, 22q11 deletion .... which causes proximal weakness and a high risk of malignant.

  11. Klippel-Trenaunay Syndrome (KTS)

    Science.gov (United States)

    ... Definition Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth ... Definition Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth ...

  12. Prognosis of Cyclic Vomiting Syndrome

    Directory of Open Access Journals (Sweden)

    J. Gordon Millichap

    2016-03-01

    Full Text Available Investigators from Teikyo University School of Medicine, Tokyo, Japan, evaluated the clinical features, prognosis, and prophylaxis of cyclic vomiting syndrome and the relationship between the syndrome and levels of adrenocorticotropic/antidiuretic hormones (ACTH/ADH.

  13. Sudden Infant Death Syndrome (SIDS)

    Science.gov (United States)

    Sudden infant death syndrome (SIDS) Overview Sudden infant death syndrome (SIDS) is the unexplained death, usually during sleep, of a seemingly healthy baby ... year old. SIDS is sometimes known as crib death because the infants often die in their cribs. ...

  14. Genetics Home Reference: Troyer syndrome

    Science.gov (United States)

    ... Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH. SPG20 is mutated in Troyer syndrome, an ... Cross H, Patel H, Patton MA, Valentine A, Crosby AH. Troyer syndrome revisited. A clinical and radiological ...

  15. [Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].

    Science.gov (United States)

    Berio, A; Trucchi, R; Meliota, M

    1992-05-01

    The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

  16. Goldenhar syndrome and urogenital abnormalities

    Directory of Open Access Journals (Sweden)

    Mohan Marulaiah

    2003-01-01

    Full Text Available The Goldenhar syndrome (oculo-auriculo-vertebral syn-drome or 1st and 2nd branchial arch syndrome is a com-plex of craniofacial anomalies. It has been associated with anomalies in other systems and with abnormalities of the urogenital system. We present a case of Goldenhar syn-drome with multiple renal anomalies and a urogenital si-nus, which has not been reported before.

  17. Teachers` and medics' burnout syndrome

    OpenAIRE

    VOPELKOVÁ, Kateřina

    2010-01-01

    The bachelor thesis offers an overview of information related to problems of stress and burnout syndrome. I deal mainly with causes, symptoms, risk factors, prevention and getting stress and burnout syndrome under control. The aim of my bachelor thesis is to find out symptoms of burnout syndrome at teachers and health service employees. I supposed different manifestations of the burnout syndrome due to different demands put on these people in their professions. Another aim was to establish th...

  18. Colobomata associated with Noonan's syndrome.

    OpenAIRE

    Kleanthous, L.; Cruz, D.; D'Graham, E.; Efthimiou, J.

    1987-01-01

    A patient with Noonan's syndrome and fundal colobomata in both eyes is described. To our knowledge, this is the first report of the association of colobomata with Noonan's syndrome. Although the patient had poor sight since early childhood and dyspnea on exertion as a teenager, the diagnosis of Noonan's syndrome was not made until early adulthood. We hope this report will encourage recognition of this syndrome and its implications at an earlier stage.

  19. Extracolonic Manifestations of Lynch Syndrome

    OpenAIRE

    Bansidhar, Brian J.

    2012-01-01

    Lynch syndrome has classically been defined by several predominant malignancies. Initial clinical criteria for diagnosis of Lynch syndrome would miss 40% of affected individuals. As time has passed, our understanding of Lynch syndrome has evolved and will continue to do so. The number of cancer types that are included in the Lynch phenotype is growing. This has allowed clinicians to redefine Lynch syndrome, at risk populations, screening needs, and diagnostic criteria. Inclusion of extracolon...

  20. Hypertension og det metaboliske syndrom

    DEFF Research Database (Denmark)

    Olsen, Michael Hecht; Jeppesen, Jørgen; Larsen, Mogens Lytken

    2009-01-01

    The metabolic syndrome is a relatively prevalent condition characterized by co-existence of several metabolic and cardiovascular risk factors including hypertension. Patients with hypertension have an increased risk of developing the metabolic syndrome which, in turn, increases the cardiovascular...... syndrome is of clinical importance as it makes the treating physician test for other elements of the syndrome in patients with one of the elements, e.g. hypertension. Udgivelsesdato: 2009-Jun...