WorldWideScience

Sample records for hunter syndrome patients

  1. Neurogenic bladder in Hunter's syndrome.

    Science.gov (United States)

    Koyama, K; Moda, Y; Sone, A; Tanaka, H; Hino, Y

    1994-01-01

    We encountered a rare patient with Hunter's syndrome who exhibited urinary retention as a result of a neurogenic bladder, uninhibited detrusor contractions, and detrusor-sphincter dyssynergia. Neurological findings were consistent with cervical myelopathy and cervical MR imaging showed very narrow segments at the cord level C2-4. We speculate that this Hunter's syndrome patient has cervical myelopathy and that this neurological dysfunction causes the neurogenic bladder. PMID:8014981

  2. Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients

    Directory of Open Access Journals (Sweden)

    Munier A. Nour

    2016-01-01

    Full Text Available Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function. Patient 1, a 10-year-old boy with Hunter syndrome, was evaluated for poor growth and an ectopic posterior pituitary gland. Endocrine testing revealed growth hormone (GH deficiency, secondary adrenal insufficiency, and tertiary hypothyroidism. An improvement in growth velocity with hormone replacement (GH, thyroxine, and corticosteroid was seen; however, final adult height remained compromised. Patient 2, a 13-year-old male with Hunter syndrome, was evaluated for growth failure. He had a large empty sella turcica with posteriorly displaced pituitary. Functional endocrine testing was normal and a trial of GH-treatment yielded no significant effect. Panhypopituitarism associated with pituitary anomalies has not been previously reported in Hunter syndrome and was an incidental finding of significant clinical importance. In the setting of documented anterior hypopituitarism, while hormone replacement improved growth velocity, final height remained impaired. In patient 2 with equivocal GH-testing results, treatment had no effect on linear growth. These cases highlight the importance of careful clinical assessment in Hunter syndrome and that judicious hormone replacement may be indicated in individual cases.

  3. Mental health perspectives of Hunter syndrome: Case reports of two biological siblings

    Directory of Open Access Journals (Sweden)

    Kabir Garg

    2016-01-01

    Full Text Available Hunter syndrome is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of a substance called glycosaminoglycans in nearly all cell types, tissues, and organs. Hunter syndrome presents with facial dysmorphism, airway diseases, skeletal defects, cardiomyopathies, and neuropsychiatric manifestations. Mental subnormality is a cardinal feature in Hunter syndrome. This is a progressive cognitive decline that is not amenable to enzyme replacement therapy. Due to progressive cognitive decline, training the children to improve the adaptive functioning is a challenge that creates immense stress for the caregivers. Patients with Hunter syndrome should undergo serial assessment of intellectual ability and may be trained accordingly.

  4. Diagnosis of Hunter's syndrome carriers; radioactive sulphate incorporation into fibroblasts in the presence of fructose 1-phosphate

    International Nuclear Information System (INIS)

    Toennesen, T.; Lykkelund, C.; Guettler, F.

    1982-01-01

    Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. In the presence of fructose 1-phosphate a 50% mixture of fibroblasts from a patient with Hunter's syndrome and a normal homozygous individual showed an increased 35 S-sulphate incorporation into acid mucopolysaccharides. When fibroblast cultures from one obligate and two possible carriers of Hunter's syndrome were tested for 35 S-sulphate incorporation, the cultures showed either twice the normal 35 S-sulphate incorporation into acid mucopolysaccharides in the presence of fructose 1-phosphate or an abnormally high incorporation in the presence as well as in the absence of the sugar phosphate. (orig.)

  5. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

    Directory of Open Access Journals (Sweden)

    Roberto Giugliani

    2014-06-01

    Full Text Available This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S, an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems. Diagnosis is based on screening urinary glycosaminoglycans and confirmation by measuring I2S activity and analyzing I2S gene mutations. Idursulfase (recombinant I2S (Elaprase®, Shire enzyme replacement therapy (ERT, designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity and respiratory function, and reduces spleen and liver size and urinary glycosaminoglycan levels. Additional measures, responding to the multi-organ manifestations, such as abdominal/inguinal hernia repair, carpal tunnel surgery, and cardiac valve replacement, should also be considered. Investigational treatment options such as intrathecal ERT are active areas of research, and bone marrow transplantation is in clinical practice. Communication among care providers, social workers, patients and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients' responses.

  6. Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome.

    Science.gov (United States)

    Dalmau Serra, Jaime; Vitoria Miñana, Isidro; Calderón Fernández, Rafael; Cortell Aznar, Isidoro

    2015-11-06

    Since enzyme replacement treatment (ERT) with idursulfase is available for Hunter syndrome (HS; mucopolysaccharidosis type II), for the first time, disease progression can be limited and organ damage reduced or prevented. We described retrospectively the clinical evolution of eight HS males, treated with ERT and followed in routine clinical practice in Hospital Infantil La Fe (Valencia, Spain). We studied three children, three adolescents and two adults. Time from diagnosis to ERT ranged from 13.7 to 0.2 years, and duration of ERT ranged from 24 to 77.1 months. From the start of ERT, weight and height increased in children and adolescents and remained stable in adults. Glycosaminoglycans (GAG) decreased in all patients; in patient 5 (aged 23 years), we observed the highest reduction (86%) with recovery of carpal tunnel syndrome, splenomegaly and a decrease in nocturnal oxygen dependence. Our results show that ERT improve respiratory impairment and organomegalies and decrease GAGs levels in all patients including children, adolescent and adults. While cardiac manifestations and facial features stabilized, responses in other parameters were heterogeneous. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  7. Hunters syndrom og hørenedsaettelse

    DEFF Research Database (Denmark)

    Kiaer, Eva Kirkegaard; Møller, Troels Reinholdt; Wetke, Randi

    2010-01-01

    A 30 month-old boy with delayed language development was referred to the Department of Audiology in Aarhus. At the time of referral he had had 19 cases of acute otitis media and had been tubulated four times. Furthermore, the boy had not developed according to age in several respects: his motor...... functions and language were delayed, and he made audible respiratory sounds and was obviously nasally congested. The boy was referred for further investigations at the Department of Paediatrics. The tests showed that the boy suffered from Hunter Syndrome (MPSII) and he underwent relevant treatment....

  8. Profile of idursulfase for the treatment of Hunter syndrome

    Directory of Open Access Journals (Sweden)

    Sestito S

    2015-07-01

    Full Text Available Simona Sestito, Ferdinando Ceravolo, Michele Grisolia, Elisa Pascale, Licia Pensabene, Daniela Concolino Department of Pediatrics, University Magna Graecia of Catanzaro, Catanzaro, Italy Abstract: Mucopolysaccharidosis type II (MPS II; Hunter syndrome is a rare X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS. Enzyme replacement therapy (ERT with recombinant human IDS, available since 2005, is currently the most appropriate treatment for this progressive, multisystemic, chronic, and life-threatening disease. Efficacy and safety of therapy with idursulfase have been assessed in several clinical trials, and confirmed in many clinical reports. Long-term follow-up of patients receiving ERT has demonstrated the importance of an early onset of treatment with idursulfase, before irreversible pathological changes occur. Intravenously administered idursulfase is not able to cross the blood–brain barrier, so neurological signs and symptoms cannot benefit from ERT, still remaining a major challenge in the treatment of MPS II. Keywords: MPS II, glycosaminoglycans, enzyme replacement therapy, ERT

  9. Parental experience of enzyme replacement therapy for Hunter syndrome.

    Science.gov (United States)

    Buraczewska, M; O'Leary, D; Walsh, O; Monavari, A; Crushell, E

    2013-04-01

    We aimed to establish the profile of Irish patients with Hunter Syndrome (Mucopolysaccharidosis type II, MPS II) receiving weekly intravenous Enzyme Replacement Therapy (ERT) with recombinant iduronate-2-sulfatase and to assess the social impact and parental opinion of ERT through the use of a parental questionnaire. Nine patients aged 3.5- 14 years have received a mean of 2 (range 0.5-3.5) years of ERT. Treatment was associated with clinical improvements from baseline in hepatosplenomegaly in 6/7 (85%) respiratory manifestations in 4/6 (67%) and a mean reduction in urinary glycosaminoglycan excretion of 62%. Changes noted by parents included increased energy 3/9 (33%) and softening of skin, hair and facial features 8/9 (89%). Parents report that seven hours weekly were spent on hospitalizations for ERT. Parental employment was adversely affected in 8 (89%) families. One day of school/preschool (20%) was lost every week for 8 (89%) children. All parents believed the benefits of ERT out-weigh the difficulties involved. All families would welcome the introduction of home based therapy. In conclusion the social and educational burden of hospital-based ERT on these children and their families is significant. The introduction of home-based therapy is likely to improve overall quality of life for MPSII patients and their families.

  10. An improved assay for iduronate 2-sulphate sulphatase in serum and its use in the detection of carriers of the Hunter syndrome

    International Nuclear Information System (INIS)

    Archer, I.M.; Harper, P.S.; Wusteman, F.S.

    1981-01-01

    A more sensitive assay procedure has been developed for the enzyme iduronate 2-sulphate sulphatase which is deficient in the Hunter syndrome. The substrate is O-(α-L-idopyranosyluronic acid 2-sulphate)-(1 → 4)-2,5 anhydro-D-[ 3 H-1)mannitol 6-sulphate, which, after incubation, is separated from the product by ion-exchange chromatography on a micro-columnn of Dowex 1 X 2 (Cl - ). Serum analyses can be used to supplement those on hair roots in the detection of carriers of the Hunter syndrome. (Auth.)

  11. HISTORICAL NOTE JOHN HUNTER (SURGEON) John Hunter FRS ...

    African Journals Online (AJOL)

    JOHN HUNTER (SURGEON). John Hunter FRS (13 February 1728-16 October 1793) was a Scottish surgeon, one of the most distinguished scientists and surgeons of his day. He was an early advocate of careful observation and scientific method in medicine. He was the husband of Anne Hunter, a teacher, friend and ...

  12. Teaching Hunter Responsibility.

    Science.gov (United States)

    Crume, Charles T.; Lang, George M.

    This guide provides volunteer hunter-education instructors with background information on subjects related to hunter education. A major goal of hunter education is to develop an environmental ethic among outdoorsmen, based on a deeper understanding of the natural world. Chapter 1 clarifies terms frequently used within the broad context of outdoor…

  13. Hunters' motivations and values:

    DEFF Research Database (Denmark)

    Radder, Laetitia; Bech-Larsen, Tino

    2008-01-01

    This article examines the values and motivations of South African biltong hunters. A hierarchical value map of associations between attributes, consequences and values resulted from laddering interviews with 34 hunters. The Means-End Chain approach proved useful in identifying: (a) personal value...

  14. Low-frequency electromagnetic measurements at the NPE and Hunter`s Trophy: A comparison

    Energy Technology Data Exchange (ETDEWEB)

    Sweeney, J.J. [Lawrence Livermore National Lab., CA (United States)

    1994-12-31

    Sensors and recorders were deployed for both the Non-Proliferative Experiment (NPE) and Hunter`s Trophy to measure low-frequency (1-30 Hz) electric and magnetic fields accompanying the detonation. Two stations were used for each event, located at a slant range of about 500 m, with measurements of orthogonal horizontal electric field and orthogonal horizontal and vertical magnetic field. Signals were recorded digitally with at 200 Hz sampling rate. Separate magnetic and electric signals were recorded which can be related both to the detonation and the arrival of the shock wave. The detonation time signal from the nuclear explosion is a relatively short pulse occurring with no detectable delay (within 0.5 ms) ranging from 11-19 ms after the detonation time. The cause of the initial electromagnetic signal for both chemical and nuclear explosions is unknown; the differences between the NPE and Hunter`s Trophy results may be related to the different mechanisms involved with plasma generation between nuclear and chemical explosions.

  15. Hunter College Dance Therapy Masters Program.

    Science.gov (United States)

    Schmais, Claire; White, Elissa Q.

    Described is development of the Hunter College dance therapy 18-month 30-credit masters program involving 33 adult students, (in two classes beginning in 1971 and 1972), an educational model, internship in psychiatric institutions, and preparation of instructional materials. The dance therapist is said to incorporate the psychiatric patient's…

  16. Hunters in the New Millennium

    DEFF Research Database (Denmark)

    Hansen, Hans Peter

    that hunting is a common source of conflict between different interests, only very few studies has been made to produce knowledge about people hunting for leisure. The survey “Hunters in the new millennium” is an attempt to contribute to a better understanding of hunters and hunting in an increasing urbanized...

  17. Hunter-gatherers have less famine than agriculturalists.

    Science.gov (United States)

    Berbesque, J Colette; Marlowe, Frank W; Shaw, Peter; Thompson, Peter

    2014-01-01

    The idea that hunter-gatherer societies experience more frequent famine than societies with other modes of subsistence is pervasive in the literature on human evolution. This idea underpins, for example, the 'thrifty genotype hypothesis'. This hypothesis proposes that our hunter-gatherer ancestors were adapted to frequent famines, and that these once adaptive 'thrifty genotypes' are now responsible for the current obesity epidemic. The suggestion that hunter-gatherers are more prone to famine also underlies the widespread assumption that these societies live in marginal habitats. Despite the ubiquity of references to 'feast and famine' in the literature describing our hunter-gatherer ancestors, it has rarely been tested whether hunter-gatherers suffer from more famine than other societies. Here, we analyse famine frequency and severity in a large cross-cultural database, in order to explore relationships between subsistence and famine risk. This is the first study to report that, if we control for habitat quality, hunter-gatherers actually had significantly less--not more--famine than other subsistence modes. This finding challenges some of the assumptions underlying for models of the evolution of the human diet, as well as our understanding of the recent epidemic of obesity and type 2 diabetes mellitus.

  18. Danes - The keen bargain hunters

    DEFF Research Database (Denmark)

    Jensen, Birger Boutrup

    2008-01-01

    New research proves that Danes are keen bargain hunters, and that they do specific price checks before selecting a product.......New research proves that Danes are keen bargain hunters, and that they do specific price checks before selecting a product....

  19. Thyroid cancer in a patient with Lynch syndrome – case report and literature review

    Directory of Open Access Journals (Sweden)

    Fazekas-Lavu M

    2017-07-01

    Full Text Available Monika Fazekas-Lavu,1 Andrew Parker,2 Allan D Spigelman,3,4 Rodney J Scott,5 Richard J Epstein,6 Michael Jensen,7 Katherine Samaras1,8 1Department of Endocrinology, 2Department of Pathology, St Vincent’s Hospital, Darlinghurst, NSW, Australia; 3Hereditary Cancer Clinic, St Vincent’s Cancer Genetics Service, Darlinghurst, NSW, Australia; 4University of NSW, St Vincent’s Clinical School, Darlinghurst, NSW, Australia; 5Division of Molecular Medicine, Pathology North, John Hunter Hospital and The Hunter Medical Research Institute, Newcastle, NSW, Australia; 6Department of Oncology, 7Department of Oncological Surgery/General Surgery, St Vincent’s Hospital, Darlinghurst, NSW, Australia; 8Diabetes and Metabolism Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia Abstract: Lynch syndrome describes a familial cancer syndrome comprising germline mutations in one of four DNA mismatch repair genes, MLH1, MSH2, MSH6, and PMS2 and is characterized by colorectal, endometrial, and other epithelial malignancies. Thyroid cancer is not usually considered to be part of the constellation of Lynch syndrome cancers nor have Lynch syndrome tumor gene mutations been reported in thyroid malignancies. This study reports a woman with Lynch syndrome (colonic cancer and a DNA mismatch repair mutation in the MSH2 gene with a synchronous papillary thyroid cancer. Six years later, she developed metachronous breast cancer. Metastatic bone disease developed after 3 years, and the disease burden was due to both breast and thyroid diseases. Despite multiple interventions for both metastatic breast and thyroid diseases, the patient’s metastatic burden progressed and she died of leptomeningeal metastatic disease. Two prior case reports suggested thyroid cancer may be an extraintestinal malignancy of the Lynch syndrome cancer group. Hence, this study examined the genetic relationship between the patient’s known Lynch syndrome and her

  20. Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome: the past, the present and the future

    Directory of Open Access Journals (Sweden)

    Whiteman DAH

    2017-08-01

    Full Text Available David AH Whiteman,* Alan Kimura* Research & Development, Shire Human Genetic Therapies, Inc., Lexington, MA, USA *These authors contributed equally to this work Abstract: Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900 is a rare, multisystemic, progressive lysosomal storage disease caused by deficient activity of the iduronate-2-sulfatase (I2S enzyme. Accumulation of the glycosaminoglycans dermatan sulfate and heparan sulfate results in a broad range of disease manifestations that are highly variable in presentation and severity; notably, approximately two-thirds of individuals are affected by progressive central nervous system involvement. Historically, management of this disease was palliative; however, during the 1990s, I2S was purified to homogeneity for the first time, leading to cloning of the corresponding gene and offering a means of addressing the underlying cause of MPS II using enzyme replacement therapy (ERT. Recombinant I2S (idursulfase was produced for ERT using a human cell line and was shown to be indistinguishable from endogenous I2S. Preclinical studies utilizing the intravenous route of administration provided valuable insights that informed the design of the subsequent clinical studies. The pivotal Phase II/III clinical trial of intravenous idursulfase (Elaprase®; Shire, Lexington, MA, USA demonstrated improvements in a range of clinical parameters; based on these findings, intravenous idursulfase was approved for use in patients with MPS II in the USA in 2006 and in Europe and Japan in 2007. Evidence gained from post-approval programs has helped to improve our knowledge and understanding of management of patients with the disease; as a result, idursulfase is now available to young pediatric patients, and in some countries patients have the option to receive their infusions at home. Although ERT with idursulfase has been shown to improve somatic signs and symptoms of MPS II, the drug does not cross the

  1. Evaluation of PHI Hunter in Natural Language Processing Research.

    Science.gov (United States)

    Redd, Andrew; Pickard, Steve; Meystre, Stephane; Scehnet, Jeffrey; Bolton, Dan; Heavirland, Julia; Weaver, Allison Lynn; Hope, Carol; Garvin, Jennifer Hornung

    2015-01-01

    We introduce and evaluate a new, easily accessible tool using a common statistical analysis and business analytics software suite, SAS, which can be programmed to remove specific protected health information (PHI) from a text document. Removal of PHI is important because the quantity of text documents used for research with natural language processing (NLP) is increasing. When using existing data for research, an investigator must remove all PHI not needed for the research to comply with human subjects' right to privacy. This process is similar, but not identical, to de-identification of a given set of documents. PHI Hunter removes PHI from free-form text. It is a set of rules to identify and remove patterns in text. PHI Hunter was applied to 473 Department of Veterans Affairs (VA) text documents randomly drawn from a research corpus stored as unstructured text in VA files. PHI Hunter performed well with PHI in the form of identification numbers such as Social Security numbers, phone numbers, and medical record numbers. The most commonly missed PHI items were names and locations. Incorrect removal of information occurred with text that looked like identification numbers. PHI Hunter fills a niche role that is related to but not equal to the role of de-identification tools. It gives research staff a tool to reasonably increase patient privacy. It performs well for highly sensitive PHI categories that are rarely used in research, but still shows possible areas for improvement. More development for patterns of text and linked demographic tables from electronic health records (EHRs) would improve the program so that more precise identifiable information can be removed. PHI Hunter is an accessible tool that can flexibly remove PHI not needed for research. If it can be tailored to the specific data set via linked demographic tables, its performance will improve in each new document set.

  2. Rabbit hunter uveitis: case report of tularemia uveitis.

    Science.gov (United States)

    Terrada, Céline; Azza, Said; Bodaghi, Bahram; Le Hoang, Phuc; Drancourt, Michel

    2016-09-01

    Literature reports on ophthalmological manifestations related to tularemia, a zoonose caused by the bacterium Francisella tularensis, largely refer to Parinaud's oculoglandular syndrome, which consists of the association of conjunctivitis with preauricular lymphadenitis. In this paper, we report a case of intraocular inflammation during tularemia infection. A 52-year-old Caucasian man was diagnosed with unilateral uveitis. The uveitis was posterior, with a 2+ vitritis and a large yellowish lesion involving the macula with an overlying sub-retinal detachment, extending inferiorly, and subretinal hemorrhages. Fluorescein angiography showed a late hyperfluorescence with focal vascular leakage. Ultrasound biomicroscopy confirmed the presence of a 3.8 mm parietal granuloma with a few calcifications in the left eye. While extensive work-up eliminated any other infectious and non-infectious etiology, tularemia was diagnosed by advanced serology consisting of two-dimensional Western-immunoblotting. The patient, a hunter, recalled having killed rabbits in the days before the symptoms appeared. Uveitis was rapidly controlled following treatment with doxycycline, yet three years after initiation of the treatment, the patient still complained of loss of vision in the left eye with a central scotoma. Posterior uveitis may be an infrequent manifestation of tularemia infection, and therefore this infection should be considered in the differential diagnosis of intraocular inflammation in areas where F. tularensis is endemic.

  3. MRI findings in the mild type of mucopolysaccharidosis II (Hunter's syndrome)

    International Nuclear Information System (INIS)

    Shimoda-Matsubayashi, S.; Ito, T.; Hattori, N.; Okuma, Y.; Mizuno, Y.; Kuru, Y.; Sumie, H.

    1990-01-01

    Neuroradiological findings in a 44-year-old male with the typical mild type of Hunter's disease are reported. Cranial MRI revealed patchy areas of increased and decreased signals in T1- and T2-weighted images in the thalamus and the basal ganglia giving rise to a honey comb-like appearance as a whole. The deep white matter showed high signals in the T2-weighted image. To our knowledge, the honey comb-like appearance has never been reported in this disorder. Deposition of mucopolysaccharides and/or glycolipids and increase in fluid content seem to be responsible for these changes. (orig.)

  4. Injury and Illness Among Deer Hunters

    OpenAIRE

    McRae, Shelagh M.

    1989-01-01

    General practice and out-patient emergency records for a five-year period were reviewed for injuries and illnesses that occurred during the week of deer rifle hunting on Manitoulin Island. Of 65 hunters who were identified, most had lacerations secondary to knife injuries. There were two deaths (one shooting and one in a motor vehicle accident), and 19 persons required hospitalization. More than half of these serious accidents occurred on the weekends immediately preceding or following the hu...

  5. Discrete choice modeling of season choice for Minnesota turkey hunters

    Science.gov (United States)

    Schroeder, Susan A.; Fulton, David C.; Cornicelli, Louis; Merchant, Steven S.

    2018-01-01

    Recreational turkey hunting exemplifies the interdisciplinary nature of modern wildlife management. Turkey populations in Minnesota have reached social or biological carrying capacities in many areas, and changes to turkey hunting regulations have been proposed by stakeholders and wildlife managers. This study employed discrete stated choice modeling to enhance understanding of turkey hunter preferences about regulatory alternatives. We distributed mail surveys to 2,500 resident turkey hunters. Results suggest that, compared to season structure and lotteries, additional permits and level of potential interference from other hunters most influenced hunter preferences for regulatory alternatives. Low hunter interference was preferred to moderate or high interference. A second permit issued only to unsuccessful hunters was preferred to no second permit or permits for all hunters. Results suggest that utility is not strictly defined by harvest or an individual's material gain but can involve preference for other outcomes that on the surface do not materially benefit an individual. Discrete stated choice modeling offers wildlife managers an effective way to assess constituent preferences related to new regulations before implementing them. 

  6. Wildlife value orientations among hunters, landowners and the general public

    DEFF Research Database (Denmark)

    Gamborg, Christian; Jensen, Frank Søndergaard

    2016-01-01

    This article examined wildlife value orientations among hunters (n = 1,130) and landowners (n = 1,207) in comparison to the general public (n = 1,001 adults) in Denmark, a highly urbanized European country. Respondents were categorized into four value types based on their responses to 19 statements....... Significant differences in wildlife value orientations were found. Mutualists and distanced dominated in the public; most landowners and hunters were utilitarian followed by pluralist. Male hunters were more utilitarian than female. More active hunters were more utilitarian; hunters belonging to a hunting...... association were more utilitarian than those who did not belong to associations. Full-time farmers were more utilitarian than part-time farmers, and conventional farmers were more utilitarian than organic farmers. No significant difference with regard to residence for all three groups was found. Future...

  7. Planet Hunters: Kepler by Eye

    Science.gov (United States)

    Schwamb, Megan E.; Lintott, C.; Fischer, D.; Smith, A. M.; Boyajian, T. S.; Brewer, J. M.; Giguere, M. J.; Lynn, S.; Parrish, M.; Schawinski, K.; Schmitt, J.; Simpson, R.; Wang, J.

    2014-01-01

    Planet Hunters (http://www.planethunters.org), part of the Zooniverse's (http://www.zooniverse.org) collection of online citizen science projects, uses the World Wide Web to enlist the general public to identify transits in the pubic Kepler light curves. Planet Hunters utilizes human pattern recognition to identify planet transits that may be missed by automated detection algorithms looking for periodic events. Referred to as ‘crowdsourcing’ or ‘citizen science’, the combined assessment of many non-expert human classifiers with minimal training can often equal or best that of a trained expert and in many cases outperform the best machine-learning algorithm. Visitors to the Planet Hunters' website are presented with a randomly selected ~30-day light curve segment from one of Kepler’s ~160,000 target stars and are asked to draw boxes to mark the locations of visible transits in the web interface. 5-10 classifiers review each 30-day light curve segment. Since December 2010, more than 260,000 volunteers world wide have participated, contributing over 20 million classifications. We have demonstrated the success of a citizen science approach with the project’s more than 20 planet candidates, the discovery of PH1b, a transiting circumbinary planet in a quadruple star system, and the discovery of PH2-b, a confirmed Jupiter-sized planet in the habitable zone of a Sun-like star. I will provide an overview of Planet Hunters, highlighting several of project's most recent exoplanet and astrophysical discoveries. Acknowledgements: MES was supported in part by a NSF AAPF under award AST-1003258 and a American Philosophical Society Franklin Grant. We acknowledge support from NASA ADAP12-0172 grant to PI Fischer.

  8. Planet Hunters 2 in the K2 Era

    Science.gov (United States)

    Schwamb, Megan E.; Fischer, Debra; Boyajian, Tabetha S.; Giguere, Matthew J.; Ishikawa, Sascha; Lintott, Chris; Lynn, Stuart; Schmitt, Joseph; Snyder, Chris; Wang, Ji; Barclay, Thomas

    2015-01-01

    Planet Hunters (http://www.planethunters.org) is an online citizen science project enlisting hundreds of thousands of people to search for planet transits in the publicly released Kepler data. Volunteers mark the locations of visible transits in a web interface, with multiple independent classifiers reviewing a randomly selected ~30-day light curve segment. In September 2014, Planet Hunters entered a new phase. The project was relaunched with a brand new online classification interface and discussion tool built using the Zooniverse's (http://www.zooniverse.org) latest technology and web platform. The website has been optimized for the rapid discovery and identification of planet candidates in the light curves from K2, the two-wheeled ecliptic plane Kepler mission. We will give an overview of the new Planet Hunters classification interface and Round 2 review system in context of the K2 data. We will present the first results from the Planet Hunters 2 search of K2 Campaigns 0 and 1 including a summary of new planet candidates.

  9. Conundrums in neurology: diagnosing serotonin syndrome - a meta-analysis of cases.

    Science.gov (United States)

    Werneke, Ursula; Jamshidi, Fariba; Taylor, David M; Ott, Michael

    2016-07-12

    Serotonin syndrome is a toxic state, caused by serotonin (5HT) excess in the central nervous system. Serotonin syndrome's main feature is neuro-muscular hyperexcitability, which in many cases is mild but in some cases can become life-threatening. The diagnosis of serotonin syndrome remains challenging since it can only be made on clinical grounds. Three diagnostic criteria systems, Sternbach, Radomski and Hunter classifications, are available. Here we test the validity of four assumptions that have become widely accepted: (1) The Hunter classification performs clinically better than the Sternbach and Radomski criteria; (2) in contrast to neuroleptic malignant syndrome, the onset of serotonin syndrome is usually rapid; (3) hyperthermia is a hallmark of severe serotonin syndrome; and (4) serotonin syndrome can readily be distinguished from neuroleptic malignant syndrome on clinical grounds and on the basis of medication history. Systematic review and meta-analysis of all cases of serotonin syndrome and toxicity published between 2004 and 2014, using PubMed and Web of Science. Two of the four assumptions (1 and 2) are based on only one published study each and have not been independently validated. There is little agreement between current criteria systems for the diagnosis of serotonin syndrome. Although frequently thought to be the gold standard for the diagnosis of the serotonin syndrome, the Hunter criteria did not perform better than the Sternbach and Radomski criteria. Not all cases seem to be of rapid onset and only relatively few cases may present with hyperthermia. The 0 differential diagnosis between serotonin syndrome and neuroleptic malignant syndrome is not always clear-cut. Our findings challenge four commonly made assumptions about serotonin syndrome. We propose our meta-analysis of cases (MAC) method as a new way to systematically pool and interpret anecdotal but important clinical information concerning uncommon or emergent phenomena that cannot be

  10. Vulnerable Hunter

    OpenAIRE

    Md.Asha Begum; Y.VishnuPriya; V.ManoranjanBabu; ,O.Srinivasu

    2016-01-01

    This project "VULNERABLE HUNTER" application main aim is to detect risk in our mobile applications. This application contains modules like Fetch Application, Generate Score, Uninstall and Display Graph. Through this application it detects risk so that this application is very useful to smart phone users Now-a-days so many people are using smart phones and people are crazy about new apps. But by installing all the applications into our mobile may reduce its performance. Some apps c...

  11. Hunter-gatherer energetics and human obesity.

    Science.gov (United States)

    Pontzer, Herman; Raichlen, David A; Wood, Brian M; Mabulla, Audax Z P; Racette, Susan B; Marlowe, Frank W

    2012-01-01

    Western lifestyles differ markedly from those of our hunter-gatherer ancestors, and these differences in diet and activity level are often implicated in the global obesity pandemic. However, few physiological data for hunter-gatherer populations are available to test these models of obesity. In this study, we used the doubly-labeled water method to measure total daily energy expenditure (kCal/day) in Hadza hunter-gatherers to test whether foragers expend more energy each day than their Western counterparts. As expected, physical activity level, PAL, was greater among Hadza foragers than among Westerners. Nonetheless, average daily energy expenditure of traditional Hadza foragers was no different than that of Westerners after controlling for body size. The metabolic cost of walking (kcal kg(-1) m(-1)) and resting (kcal kg(-1) s(-1)) were also similar among Hadza and Western groups. The similarity in metabolic rates across a broad range of cultures challenges current models of obesity suggesting that Western lifestyles lead to decreased energy expenditure. We hypothesize that human daily energy expenditure may be an evolved physiological trait largely independent of cultural differences.

  12. The Higgs hunter's guide

    CERN Document Server

    Gunion, John F; Haber, Howard E; Kane, Gordon L

    1989-01-01

    The Higgs Hunter's Guide is a definitive and comprehensive guide to the physics of Higgs bosons. In particular, it discusses the extended Higgs sectors required by those recent theoretical approaches that go beyond the Standard Model, including supersymmetry and superstring-inspired models.

  13. Wealth Transmission and Inequality Among Hunter-Gatherers

    Science.gov (United States)

    Hill, Kim; Marlowe, Frank; Nolin, David; Wiessner, Polly; Gurven, Michael; Bowles, Samuel; Mulder, Monique Borgerhoff; Hertz, Tom; Bell, Adrian

    2010-01-01

    We report quantitative estimates of intergenerational transmission and population-wide inequality for wealth measures in a set of hunter-gatherer populations. Wealth is defined broadly as factors that contribute to individual or household well-being, ranging from embodied forms such as weight and hunting success to material forms such household goods, as well as relational wealth in exchange partners. Intergenerational wealth transmission is low to moderate in these populations, but is still expected to have measurable influence on an individual’s life chances. Wealth inequality (measured with Gini coefficients) is moderate for most wealth types, matching what qualitative ethnographic research has generally indicated (if not the stereotype of hunter-gatherers as extreme egalitarians). We discuss some plausible mechanisms for these patterns, and suggest ways in which future research could resolve questions about the role of wealth in hunter-gatherer social and economic life. PMID:21151711

  14. Motivations of female Black Hills deer hunters

    Science.gov (United States)

    Gigliotti, Larry M.; Covelli Metcalf, Elizabeth

    2016-01-01

    State fish and wildlife agencies are particularly interested in attracting female participation because of the potential to offset declining participation in hunting. Understanding female hunters’ motivations will be critical for designing effective recruitment and retention programs for women hunters. Although female participation in hunting is increasing, males still outnumber females by about tenfold. Gender differences in deer hunters were explored by comparing ratings of eight motivations (social, nature, excitement, meat, challenge, trophy, extra hunting opportunity, and solitude). Hunter types were defined by hunters’ selection of the most important motivation for why they like Black Hills deer hunting. Overall, females and males were relatively similar in their ratings of the eight motivations, and we found 85% gender similarity in the selection of the most important motivation. Women were slightly more motivated by the food aspect of the hunt while men placed slightly more value on the hunt as a sporting activity.

  15. Hunter-gatherer energetics and human obesity.

    Directory of Open Access Journals (Sweden)

    Herman Pontzer

    Full Text Available Western lifestyles differ markedly from those of our hunter-gatherer ancestors, and these differences in diet and activity level are often implicated in the global obesity pandemic. However, few physiological data for hunter-gatherer populations are available to test these models of obesity. In this study, we used the doubly-labeled water method to measure total daily energy expenditure (kCal/day in Hadza hunter-gatherers to test whether foragers expend more energy each day than their Western counterparts. As expected, physical activity level, PAL, was greater among Hadza foragers than among Westerners. Nonetheless, average daily energy expenditure of traditional Hadza foragers was no different than that of Westerners after controlling for body size. The metabolic cost of walking (kcal kg(-1 m(-1 and resting (kcal kg(-1 s(-1 were also similar among Hadza and Western groups. The similarity in metabolic rates across a broad range of cultures challenges current models of obesity suggesting that Western lifestyles lead to decreased energy expenditure. We hypothesize that human daily energy expenditure may be an evolved physiological trait largely independent of cultural differences.

  16. Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome.

    Science.gov (United States)

    Mas-Moya, Jenny; Dudley, Beth; Brand, Randall E; Thull, Darcy; Bahary, Nathan; Nikiforova, Marina N; Pai, Reetesh K

    2015-11-01

    Screening for DNA mismatch repair (MMR) deficiency in colorectal and endometrial carcinomas identifies patients at risk for Lynch syndrome. Some patients with MMR-deficient tumors have no evidence of a germline mutation and have been described as having Lynch-like syndrome. We compared the clinicopathological features of colorectal and endometrial carcinomas in patients with Lynch-like syndrome and Lynch syndrome. Universal screening identified 356 (10.6%) of 3352 patients with colorectal carcinoma and 72 (33%) of 215 patients with endometrial carcinoma with deficient DNA MMR. Sixty-six patients underwent germline mutation analysis with 45 patients (68%) having evidence of a germline MMR gene mutation confirming Lynch syndrome and 21 patients (32%) having Lynch-like syndrome with no evidence of a germline mutation. Most patients with Lynch-like syndrome had carcinoma involving the right colon compared to patients with Lynch syndrome (93% versus 45%; P Lynch syndrome confirmed by germline mutation analysis. Synchronous or metachronous Lynch syndrome-associated carcinoma was more frequently identified in patients with Lynch syndrome compared to Lynch-like syndrome (38% versus 7%; P = .04). There were no significant differences in clinicopathological variables between patients with Lynch-like syndrome and Lynch syndrome with endometrial carcinoma. In summary, 32% of patients with MMR deficiency concerning Lynch syndrome will have Lynch-like syndrome. Our results demonstrate that patients with Lynch-like syndrome are more likely to have right-sided colorectal carcinoma, less likely to have synchronous or metachronous Lynch syndrome-associated carcinoma, and less likely to demonstrate isolated loss of MSH6 expression within their tumor. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Hot subduction: Magmatism along the Hunter Ridge, SW Pacific

    International Nuclear Information System (INIS)

    Crawford, A.J.; Verbeeten, A.; Danyushevsky, L.V.; Sigurdsson, I.A.; Maillet, P.; Monzier, M.

    1997-01-01

    The Hunter 'fracture zone' is generally regarded as a transform plate boundary linking the oppositely dipping Tongan and Vanuatu subduction systems. Dredging along the Hunter Ridge and sampling of its northernmost extent, exposed as the island of Kadavu in Fiji, has yielded a diversity of magmatic suites, including arc tholeiites and high-Ca boninites, high-Mg lavas with some affinities to boninites and some affinities to adakites, and true adakitic lavas associated with remarkable low-Fe, high-Na basalts with 8-16 ppm Nb (herein high-Nb basalts). Lavas which show clear evidence of slab melt involvement in their petrogenesis occur at either end of the Hunter Ridge, whereas the arc tholeiites and high-Ca boninites appear to be restricted to the south central part of the ridge. Mineralogical and whole rock geochemical data for each of these suites are summarized, and a tectono-magmatic model for their genesis and distribution is suggested. Trace element features and radiogenic isotope data for the Hunter Ridge lavas indicate compositions analogue to Pacific MORB-like mantle

  18. Management of moyamoya syndrome in patients with Noonan syndrome.

    Science.gov (United States)

    Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

    2016-06-01

    A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. Honey, Hadza, hunter-gatherers, and human evolution.

    Science.gov (United States)

    Marlowe, Frank W; Berbesque, J Colette; Wood, Brian; Crittenden, Alyssa; Porter, Claire; Mabulla, Audax

    2014-06-01

    Honey is the most energy dense food in nature. It is therefore not surprising that, where it exists, honey is an important food for almost all hunter-gatherers. Here we describe and analyze widespread honey collecting among foragers and show that where it is absent, in arctic and subarctic habitats, honey bees are also rare to absent. Second, we focus on one hunter-gatherer society, the Hadza of Tanzania. Hadza men and women both rank honey as their favorite food. Hadza acquire seven types of honey. Hadza women usually acquire honey that is close to the ground while men often climb tall baobab trees to raid the largest bee hives with stinging bees. Honey accounts for a substantial proportion of the kilocalories in the Hadza diet, especially that of Hadza men. Cross-cultural forager data reveal that in most hunter-gatherers, men acquire more honey than women but often, as with the Hadza, women do acquire some. Virtually all warm-climate foragers consume honey. Our closest living relatives, the great apes, take honey when they can. We suggest that honey has been part of the diet of our ancestors dating back to at least the earliest hominins. The earliest hominins, however, would have surely been less capable of acquiring as much honey as more recent, fully modern human hunter-gatherers. We discuss reasons for thinking our early ancestors would have acquired less honey than foragers ethnographically described, yet still significantly more than our great ape relatives. Copyright © 2014 Elsevier Ltd. All rights reserved.

  20. Legitimization of regulatory norms: Waterfowl hunter acceptance of changing duck bag limits

    Science.gov (United States)

    Schroeder, Susan A.; Fulton, David C.; Lawrence, Jeffrey S.; Cordts, Steven D.

    2014-01-01

    Few studies have examined response to regulatory change over time, or addressed hunter attitudes about changes in hunting bag limits. This article explores Minnesota waterfowl hunters’ attitudes about duck bag limits, examining attitudes about two state duck bag limits that were initially more restrictive than the maximum set by the U.S. Fish and Wildlife Service (USFWS), but then increased to match federal limits. Results are from four mail surveys that examined attitudes about bag limits over time. Following two bag limit increases, a greater proportion of hunters rated the new bag limit “too high” and a smaller proportion rated it “too low.” Several years following the first bag limit increase, the proportion of hunters who indicated that the limit was “too high” had declined, suggesting hunter acceptance of the new regulation. Results suggest that waterfowl bag limits may represent legal norms that influence hunter attitudes and gain legitimacy over time.

  1. 75 FR 32877 - Financial Assistance: Wildlife Restoration, Sport Fish Restoration, Hunter Education and Safety

    Science.gov (United States)

    2010-06-10

    ... resources, aquatic-life forms, and sport fishing; and (e) develop responsible attitudes and ethics toward..., Sport Fish Restoration, Hunter Education and Safety AGENCY: Fish and Wildlife Service, Interior. ACTION... governing the Wildlife Restoration, Sport Fish Restoration, and Hunter Education and Safety (Enhanced Hunter...

  2. Beyond the Cut Hunter: A Historical Epidemiology of HIV Beginnings in Central Africa.

    Science.gov (United States)

    Rupp, Stephanie; Ambata, Philippe; Narat, Victor; Giles-Vernick, Tamara

    2016-12-01

    In the absence of direct evidence, an imagined "cut hunter" stands in for the index patient of pandemic HIV/AIDS. During the early years of colonial rule, this explanation goes, a hunter was cut or injured from hunting or butchering a chimpanzee infected with simian immunodeficiency virus, resulting in the first sustained human infection with the virus that would emerge as HIV-1M. We argue here that the "cut hunter" relies on a historical misunderstanding and ecological oversimplification of human-chimpanzee (Pan Troglodytes troglodytes) interactions that facilitated pathogenic transmission. This initial host shift cannot explain the beginnings of the HIV/AIDS pandemic. Instead, we must understand the processes by which the virus became transmissible, possibly between Sangha basin inhabitants and ultimately reached Kinshasa. A historical epidemiology of the late nineteenth and twentieth centuries, provides a much-needed corrective to the major shortcomings of the cut hunter. Based on 62 oral historical interviews conducted in southeastern Cameroon and archival research, we show that HIV emerged from ecological, economic, and socio-political transformations of the late nineteenth and twentieth centuries. The gradual imposition of colonial rule built on and reoriented ecologies and economies, and altered older patterns of mobility and sociality. Certain changes may have contributed to the initial viral host shift, but more importantly, facilitated the adaptation of HIV-1M to human-to-human transmission. Our evidence suggests that the most critical changes occurred after 1920. This argument has important implications for public health policy, underscoring recent work emphasizing alternative pathways for zoonotic spillovers into human beings.

  3. Core Hunter 3: flexible core subset selection.

    Science.gov (United States)

    De Beukelaer, Herman; Davenport, Guy F; Fack, Veerle

    2018-05-31

    Core collections provide genebank curators and plant breeders a way to reduce size of their collections and populations, while minimizing impact on genetic diversity and allele frequency. Many methods have been proposed to generate core collections, often using distance metrics to quantify the similarity of two accessions, based on genetic marker data or phenotypic traits. Core Hunter is a multi-purpose core subset selection tool that uses local search algorithms to generate subsets relying on one or more metrics, including several distance metrics and allelic richness. In version 3 of Core Hunter (CH3) we have incorporated two new, improved methods for summarizing distances to quantify diversity or representativeness of the core collection. A comparison of CH3 and Core Hunter 2 (CH2) showed that these new metrics can be effectively optimized with less complex algorithms, as compared to those used in CH2. CH3 is more effective at maximizing the improved diversity metric than CH2, still ensures a high average and minimum distance, and is faster for large datasets. Using CH3, a simple stochastic hill-climber is able to find highly diverse core collections, and the more advanced parallel tempering algorithm further increases the quality of the core and further reduces variability across independent samples. We also evaluate the ability of CH3 to simultaneously maximize diversity, and either representativeness or allelic richness, and compare the results with those of the GDOpt and SimEli methods. CH3 can sample equally representative cores as GDOpt, which was specifically designed for this purpose, and is able to construct cores that are simultaneously more diverse, and either are more representative or have higher allelic richness, than those obtained by SimEli. In version 3, Core Hunter has been updated to include two new core subset selection metrics that construct cores for representativeness or diversity, with improved performance. It combines and outperforms the

  4. Hunter-Gatherers and the Origins of Religion.

    Science.gov (United States)

    Peoples, Hervey C; Duda, Pavel; Marlowe, Frank W

    2016-09-01

    Recent studies of the evolution of religion have revealed the cognitive underpinnings of belief in supernatural agents, the role of ritual in promoting cooperation, and the contribution of morally punishing high gods to the growth and stabilization of human society. The universality of religion across human society points to a deep evolutionary past. However, specific traits of nascent religiosity, and the sequence in which they emerged, have remained unknown. Here we reconstruct the evolution of religious beliefs and behaviors in early modern humans using a global sample of hunter-gatherers and seven traits describing hunter-gatherer religiosity: animism, belief in an afterlife, shamanism, ancestor worship, high gods, and worship of ancestors or high gods who are active in human affairs. We reconstruct ancestral character states using a time-calibrated supertree based on published phylogenetic trees and linguistic classification and then test for correlated evolution between the characters and for the direction of cultural change. Results indicate that the oldest trait of religion, present in the most recent common ancestor of present-day hunter-gatherers, was animism, in agreement with long-standing beliefs about the fundamental role of this trait. Belief in an afterlife emerged, followed by shamanism and ancestor worship. Ancestor spirits or high gods who are active in human affairs were absent in early humans, suggesting a deep history for the egalitarian nature of hunter-gatherer societies. There is a significant positive relationship between most characters investigated, but the trait "high gods" stands apart, suggesting that belief in a single creator deity can emerge in a society regardless of other aspects of its religion.

  5. PALEOLITHIC HUNTER-GATHERERS' DIETARY PATTERNS ...

    African Journals Online (AJOL)

    Dr. Al-Domi

    the main aspects of Paleolithic hunter-gatherers' dietary patterns and its main long-term ... Hence, people in developing countries have been exposed to certain ... as food habits, which prompted possible negative impacts on health status leading to ... costs [5, 7]. .... Agricultural revolution with efficient production of grains,.

  6. Serotonin Syndrome in the Setting of Lamotrigine, Aripiprazole, and Cocaine Use

    Directory of Open Access Journals (Sweden)

    Anupam Kotwal

    2015-01-01

    Full Text Available Serotonin syndrome is a potentially life-threatening condition associated with increased serotonergic activity in the central nervous system. It is classically associated with the simultaneous administration of two serotonergic agents, but it can occur after initiation of a single serotonergic drug or increasing the dose of a serotonergic drug in individuals who are particularly sensitive to serotonin. We describe a case of serotonin syndrome that occurred after ingestion of higher than prescribed doses of lamotrigine and aripiprazole, in addition to cocaine abuse. The diagnosis was established based on Hunter toxicity criteria and severity was classified as mild. The features of this syndrome resolved shortly after discontinuation of the offending agents. Serotonin syndrome is characterized by mental status changes, autonomic hyperactivity, and neuromuscular abnormalities along a spectrum ranging from mild to severe. Serotonin syndrome in our patient was most likely caused by the pharmacokinetic and pharmacodynamic interactions between lamotrigine, aripiprazole, and cocaine leading to increased CNS serotonergic activity.

  7. Ride, shoot, and call: wildlife use among contemporary urban hunters in Três Fronteiras, Brazilian Amazon

    Directory of Open Access Journals (Sweden)

    Nathalie van Vliet

    2015-09-01

    Full Text Available Most bushmeat studies in the Amazon region focus on hunting patterns of indigenous populations in rural settings. Our study describes the existence of urban hunters in medium-sized towns. Using a variety of data collection methods, we describe the main socioeconomic characteristics of urban hunters in Benjamin Constant and Atalaia do Norte, Brazil. We analyze the patterns and motivations of urban hunters as well as the type of prey harvested and quantities traded. All interviewed hunters are caboclos, people of mixed Brazilian indigenous and European origins from rural areas who now live in urban and peri-urban areas. Living in these more populated spaces allows these hunters better market options for their harvest and allows them to alternate hunting with other economic activities. Only 29% of the interviewed hunters relied solely on hunting. In total, 11.6 tons of bushmeat were harvested (of which 97% was traded by four hunters during the monitoring period (60 days. The most hunted species were terecay (Podocnemis unifilis, curassow (Crax sp., paca (Cuniculus paca, and tapir (Tapirus terrestris. The ratio of bushmeat sold to that consumed, as well as the level of participation in the bushmeat market chain, allowed us to differentiate between specialized and diversified hunters. Specialized hunters sell 81% of the bushmeat caught to known wholesalers in the city. Diversified hunters sell 21% of their total catch to families, neighbors, or friends directly as fresh meat, avoiding intermediaries. For all hunters, hunting localities are associated with peri-urban roadways that are easily reached by motorbike or bicycle from the hunters' houses in the urban areas or city fringes. Our results show that urban hunters in medium-sized towns exemplify how traditional hunting systems can be adapted in the face of globalization, by living close to the market, at relatively manageable distances from hunting grounds, and using modern methods of

  8. Cooperation and the evolution of hunter-gatherer storytelling.

    Science.gov (United States)

    Smith, Daniel; Schlaepfer, Philip; Major, Katie; Dyble, Mark; Page, Abigail E; Thompson, James; Chaudhary, Nikhil; Salali, Gul Deniz; Mace, Ruth; Astete, Leonora; Ngales, Marilyn; Vinicius, Lucio; Migliano, Andrea Bamberg

    2017-12-05

    Storytelling is a human universal. From gathering around the camp-fire telling tales of ancestors to watching the latest television box-set, humans are inveterate producers and consumers of stories. Despite its ubiquity, little attention has been given to understanding the function and evolution of storytelling. Here we explore the impact of storytelling on hunter-gatherer cooperative behaviour and the individual-level fitness benefits to being a skilled storyteller. Stories told by the Agta, a Filipino hunter-gatherer population, convey messages relevant to coordinating behaviour in a foraging ecology, such as cooperation, sex equality and egalitarianism. These themes are present in narratives from other foraging societies. We also show that the presence of good storytellers is associated with increased cooperation. In return, skilled storytellers are preferred social partners and have greater reproductive success, providing a pathway by which group-beneficial behaviours, such as storytelling, can evolve via individual-level selection. We conclude that one of the adaptive functions of storytelling among hunter gatherers may be to organise cooperation.

  9. Humans as predators: an overview of predation strategies of hunters with contrasting motivational drivers

    Directory of Open Access Journals (Sweden)

    Fredrik Dalerum

    2018-01-01

    Full Text Available Predator-prey theory suggests that generalist predators are linked to demographic stability of prey whereas specialists are destabilizing. We overview the demographic consequences of different predation strategies and hypothesize that subsistence hunting occurs opportunistically, persecution hunters behave like specialist predators, and recreational hunters behave like generalist predators. Under this hypothesis, persecution hunting would have destabilizing effects, whereas the effects of subsistence and recreational hunting would be neutral or stabilizing. We found poor empirical support for this hypothesis, but there was scarce empirical data. Recreational hunters mainly hunted opportunistically and hunting as managed persecution followed a type III functional response, i.e. with low hunting intensity at low game abundances and a switch to an increased intensity at some level of abundance. We suggest that recreational hunters have limited destabilizing effects on game populations and that hunting may be an ineffective way of complete the removal of invasive species. We urge for further studies quantifying the responses of hunters to game abundances, in particular studies evaluating the responses of subsistence hunters and illegal persecution.

  10. The Enchanted Hunters in Nabokov’s Lolita

    Directory of Open Access Journals (Sweden)

    Justine Shu- Ting Kao

    2017-06-01

    Full Text Available In Nabokov’s Lolita, Humbert Humbert’s The Enchanted Hunters, as a quest for love, aims to reconstruct a felicitous world or integrate various fragmentary details into an organic unity that revives a lost love, experiencing it on the basis of irony, and revealing a simulation of the desire, violence, and despondency which have been expressed in myths of nymphs and Persephone. The protagonist never reaches this unity, but his narrative of erotic and romantic love reveals him as a pathetic addict engaged in mechanical reproduction related to the phenomena of desire, seduction, violence, and sex. His The Enchanted Hunters does not simulate what he expects of his childhood love with Annabel; rather, it simulates the erotic imagination suggested in Mary D. Sheriff’s term “nymphomania,” in which artists fall degenerately to a model of tragedy. Keywords: simulation, nymph, nymphomania, The Enchanted Hunters The Enchanted Hunters in Nabokov’s Lolita refers to the name of a hotel and the title of a play. This seeming coincidence is actually not coincidental: Nabokov weaves a story concerning a pedophile’s seduction of a prepubescent child into a “story within a story,” in which the girl is imagined as a seducer who bewitches a number of hunters. Just as the girl in the play is a figment of a poet’s imagination, so Lolita in the novel Lolita is an imaginary production of a middle-aged pedophile. Yet Lolita is not so much a novel revealing guilt and mental disorder, but a mélange of art and reality, or more specifically, it is about a coinage in which the author fabricates art and myth in real life. Parallel to the protagonist who simulates what he expects of his childhood love, Annabel, in the form of the nymphet, Lolita, Nabokov replicates the beauty of butterflies in the pursuit of beauty and immortality, and develops the world of art with a pathetic tone whereby we gradually perceive a simulation of the desire, violence, and

  11. [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.

  12. Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease

    Directory of Open Access Journals (Sweden)

    Moldovan Laura

    2010-10-01

    Full Text Available Abstract Background Computer-based teaching (CBT is a well-known educational device, but it has never been applied systematically to the teaching of a complex, rare, genetic disease, such as Hunter disease (MPS II. Aim To develop interactive teaching software functioning as a virtual clinic for the management of MPS II. Implementation and Results The Hunter disease eClinic, a self-training, user-friendly educational software program, available at the Lysosomal Storage Research Group (http://www.lysosomalstorageresearch.ca, was developed using the Adobe Flash multimedia platform. It was designed to function both to provide a realistic, interactive virtual clinic and instantaneous access to supporting literature on Hunter disease. The Hunter disease eClinic consists of an eBook and an eClinic. The eClinic is the interactive virtual clinic component of the software. Within an environment resembling a real clinic, the trainee is instructed to perform a medical history, to examine the patient, and to order appropriate investigation. The program provides clinical data derived from the management of actual patients with Hunter disease. The eBook provides instantaneous, electronic access to a vast collection of reference information to provide detailed background clinical and basic science, including relevant biochemistry, physiology, and genetics. In the eClinic, the trainee is presented with quizzes designed to provide immediate feedback on both trainee effectiveness and efficiency. User feedback on the merits of the program was collected at several seminars and formal clinical rounds at several medical centres, primarily in Canada. In addition, online usage statistics were documented for a 2-year period. Feedback was consistently positive and confirmed the practical benefit of the program. The online English-language version is accessed daily by users from all over the world; a Japanese translation of the program is also available. Conclusions The

  13. Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease.

    Science.gov (United States)

    Al-Jasmi, Fatma; Moldovan, Laura; Clarke, Joe T R

    2010-10-25

    Computer-based teaching (CBT) is a well-known educational device, but it has never been applied systematically to the teaching of a complex, rare, genetic disease, such as Hunter disease (MPS II). To develop interactive teaching software functioning as a virtual clinic for the management of MPS II. The Hunter disease eClinic, a self-training, user-friendly educational software program, available at the Lysosomal Storage Research Group (http://www.lysosomalstorageresearch.ca), was developed using the Adobe Flash multimedia platform. It was designed to function both to provide a realistic, interactive virtual clinic and instantaneous access to supporting literature on Hunter disease. The Hunter disease eClinic consists of an eBook and an eClinic. The eClinic is the interactive virtual clinic component of the software. Within an environment resembling a real clinic, the trainee is instructed to perform a medical history, to examine the patient, and to order appropriate investigation. The program provides clinical data derived from the management of actual patients with Hunter disease. The eBook provides instantaneous, electronic access to a vast collection of reference information to provide detailed background clinical and basic science, including relevant biochemistry, physiology, and genetics. In the eClinic, the trainee is presented with quizzes designed to provide immediate feedback on both trainee effectiveness and efficiency. User feedback on the merits of the program was collected at several seminars and formal clinical rounds at several medical centres, primarily in Canada. In addition, online usage statistics were documented for a 2-year period. Feedback was consistently positive and confirmed the practical benefit of the program. The online English-language version is accessed daily by users from all over the world; a Japanese translation of the program is also available. The Hunter disease eClinic employs a CBT model providing the trainee with realistic

  14. Influence of Age and Educational Level on the Behavior of Hunters in Vojvodina Province (Serbia

    Directory of Open Access Journals (Sweden)

    Vladimir Marković

    2011-07-01

    Full Text Available Education as an important factor in the development of economy has a major impact on the development of hunting and hunting tourism. In this research, it has conducted a survey of hunters from the territory of Vojvodina Province regarding their attitude and motives for hunting, importance of education, importance of GIS in hunting, poaching as well as their level of hunting ethics. Using SPSS program, it was cross-referenced the individual responses in relation to age category and level of education. The results show that the youngest hunters (18 to 35 years compared to middle age hunters (35-59 years and old hunters (over 60 visit hunting events more, they are the most informed about GIS and they are most willing to learn about these technologies. The number of hunters that took part in the poaching is proportional with their level of education, so that most hunters that participate in poaching hold a university degree. However, hunters holding a university degree in the highest percentage believe that GIS can contribute to the development of hunting largely, and are willing to participate in training.

  15. Hunter-gatherer genomic diversity suggests a southern African origin for modern humans.

    Science.gov (United States)

    Henn, Brenna M; Gignoux, Christopher R; Jobin, Matthew; Granka, Julie M; Macpherson, J M; Kidd, Jeffrey M; Rodríguez-Botigué, Laura; Ramachandran, Sohini; Hon, Lawrence; Brisbin, Abra; Lin, Alice A; Underhill, Peter A; Comas, David; Kidd, Kenneth K; Norman, Paul J; Parham, Peter; Bustamante, Carlos D; Mountain, Joanna L; Feldman, Marcus W

    2011-03-29

    Africa is inferred to be the continent of origin for all modern human populations, but the details of human prehistory and evolution in Africa remain largely obscure owing to the complex histories of hundreds of distinct populations. We present data for more than 580,000 SNPs for several hunter-gatherer populations: the Hadza and Sandawe of Tanzania, and the ≠Khomani Bushmen of South Africa, including speakers of the nearly extinct N|u language. We find that African hunter-gatherer populations today remain highly differentiated, encompassing major components of variation that are not found in other African populations. Hunter-gatherer populations also tend to have the lowest levels of genome-wide linkage disequilibrium among 27 African populations. We analyzed geographic patterns of linkage disequilibrium and population differentiation, as measured by F(ST), in Africa. The observed patterns are consistent with an origin of modern humans in southern Africa rather than eastern Africa, as is generally assumed. Additionally, genetic variation in African hunter-gatherer populations has been significantly affected by interaction with farmers and herders over the past 5,000 y, through both severe population bottlenecks and sex-biased migration. However, African hunter-gatherer populations continue to maintain the highest levels of genetic diversity in the world.

  16. Screening for Cushing's syndrome in obese patients

    Directory of Open Access Journals (Sweden)

    Ozay Tiryakioglu

    2010-01-01

    Full Text Available OBJECTIVES: The aim of this study was to examine the frequency of Cushing's syndrome (CS in obese patients devoid of specific clinical symptoms of Cushing's syndrome. METHODS: A total of 150 obese patients (129 female, 21 male; mean age 44.41 ± 13.34 yr; mean BMI 35.76 ± 7.13 were included in the study. As a first screening step, we measured 24-h urinary free cortisol (UFC. An overnight 1-mg dexamethasone suppression test was also performed on all patients. Urinary free cortisol levels above 100 μg/24 h were considered to be abnormal. Suppression of serum cortisol 100 μg/24 h were recorded in 37 patients (24%. Cushing's syndrome was diagnosed in 14 of the 150 patients (9.33%. Etiologic reasons for Cushing's syndrome were pituitary microadenoma (9 patients, adrenocortical adenoma (3 patients, and adrenocortical carcinoma (1 patient. CONCLUSION: A significant proportion (9.33% of patients with simple obesity were found to have Cushing's syndrome. These findings argue that obese patients should be routinely screened for Cushing's syndrome.

  17. PLANET HUNTERS: ASSESSING THE KEPLER INVENTORY OF SHORT-PERIOD PLANETS

    International Nuclear Information System (INIS)

    Schwamb, Megan E.; Lintott, Chris J.; Lynn, Stuart; Smith, Arfon M.; Simpson, Robert J.; Fischer, Debra A.; Giguere, Matthew J.; Brewer, John M.; Parrish, Michael; Schawinski, Kevin

    2012-01-01

    We present the results from a search of data from the first 33.5 days of the Kepler science mission (Quarter 1) for exoplanet transits by the Planet Hunters citizen science project. Planet Hunters enlists members of the general public to visually identify transits in the publicly released Kepler light curves via the World Wide Web. Over 24,000 volunteers reviewed the Kepler Quarter 1 data set. We examine the abundance of ≥2 R ⊕ planets on short-period ( ⊕ Planet Hunters ≥85% efficient at identifying transit signals for planets with periods less than 15 days for the Kepler sample of target stars. Our high efficiency rate for simulated transits along with recovery of the majority of Kepler ≥4 R ⊕ planets suggests that the Kepler inventory of ≥4 R ⊕ short-period planets is nearly complete.

  18. Malignant vasovagal syndrome in two patients with Wolff-Parkinson-White syndrome

    Science.gov (United States)

    Gandhi, N M; Bennett, D H

    2004-01-01

    The presence of Wolff-Parkinson-White (WPW) syndrome in patients presenting with syncope suggests that tachyarrhythmia may be the cause. However, the symptoms require careful evaluation. Two young patients presented with syncope and were found to have WPW syndrome on their ECG. In both patients symptoms were suggestive of vasovagal syncope. During tilt testing, both the patients developed their typical symptoms with a fall in blood pressure and heart rate confirming the diagnosis of malignant vasovagal syndrome. PMID:15020537

  19. A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

    Science.gov (United States)

    Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

    2014-07-01

    To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

  20. Drivers of change in hunter offtake and hunting strategies in Sendje, Equatorial Guinea.

    Science.gov (United States)

    Gill, David J C; Fa, John E; Rowcliffe, J Marcus; Kümpel, Noëlle F

    2012-12-01

    Economic development in Africa is expected to increase levels of bushmeat hunting through rising demand for meat and improved transport infrastructure. However, few studies have tracked long-term changes in hunter behavior as a means of testing this prediction. We evaluated changes in hunter behavior in a rural community in Equatorial Guinea over a period of rapid national economic growth, during which time road access to the regional capital greatly improved. We conducted offtake surveys (Supporting Information) over 3 7-week periods at the same time of year in 1998, 2003, and 2010 and conducted hunter and household interviews (Supporting Information) in 2003 and 2010. We tested whether relations existed among catch, hunting effort, hunting strategy, and income earned through hunting and other livelihoods in 2003 and 2010. Although village offtake increased from 1775 kg in 1998 to 4172 kg in 2003, it decreased in 2010 to 1361 kg. Aggregate catch per unit effort (i.e., number of carcasses caught per hunter and per trap) decreased from 2003 to 2010, and the majority of hunters reported a decrease in abundance of local fauna. Although these results are indicative of unsustainable hunting, cumulative changes in offtake and catch per unit effort were driven by a contraction in the total area hunted following an out-migration of 29 of the village's hunters, most of whom left to gain employment in the construction industry, after 2003. Hunters operating in both 2003 and 2010 hunted closer to the village because an increased abundance of elephants posed a danger and because they desired to earn income through other activities. Our study provides an example of national economic development contributing to a reduction in the intensity and extent of hunting. ©2012 Society for Conservation Biology.

  1. High adult mortality among Hiwi hunter-gatherers: implications for human evolution.

    Science.gov (United States)

    Hill, Kim; Hurtado, A M; Walker, R S

    2007-04-01

    Extant apes experience early sexual maturity and short life spans relative to modern humans. Both of these traits and others are linked by life-history theory to mortality rates experienced at different ages by our hominin ancestors. However, currently there is a great deal of debate concerning hominin mortality profiles at different periods of evolutionary history. Observed rates and causes of mortality in modern hunter-gatherers may provide information about Upper Paleolithic mortality that can be compared to indirect evidence from the fossil record, yet little is published about causes and rates of mortality in foraging societies around the world. To our knowledge, interview-based life tables for recent hunter-gatherers are published for only four societies (Ache, Agta, Hadza, and Ju/'hoansi). Here, we present mortality data for a fifth group, the Hiwi hunter-gatherers of Venezuela. The results show comparatively high death rates among the Hiwi and highlight differences in mortality rates among hunter-gatherer societies. The high levels of conspecific violence and adult mortality in the Hiwi may better represent Paleolithic human demographics than do the lower, disease-based death rates reported in the most frequently cited forager studies.

  2. Hunter-gatherers in southeast Asia: from prehistory to the present.

    Science.gov (United States)

    Higham, Charles

    2013-01-01

    Anatomically modern hunter-gatherers expanded from Africa into Southeast Asia at least 50,000 years ago, where they probably encountered and interacted with populations of Homo erectus and Homo floresiensis and the recently discovered Denisovans. Simulation studies suggest that these hunter-gatherers may well have followed a coastal route that ultimately led to the settlement of Sahul, while archaeology confirms that they also crossed significant seas and explored well into the interior. They also adapted to marked environmental changes that alternated between relatively cool and dry conditions and warmer, wetter interludes. During the former, the sea fell by up to 120 m below its present level, which opened up a vast low-lying area known as Sundaland. Three principal alignments can be identified: the first involved the occupation of rock shelters in upland regions, the second has identified settlement on broad riverine floodplains, and the last concentrated on the raised beaches formed from about five millennia ago when the sea level was elevated above its present position. This cultural sequence was dislocated about 4 kya when rice and millet farmers infiltrated the lowlands of Southeast Asia ultimately from the Yangtze River valley. It is suggested that this led to two forms of interaction. In the first, the indigenous hunter-gatherers integrated with intrusive Neolithic communities and, while losing their cultural identity, contributed their genes to the present population of Southeast Asia. In the second, hunter-gatherers withdrew to rainforest refugia and, through selective pressures inherent in such an environment, survived as the small-bodied, dark-skinned humans found to this day in the Philippines, Peninsular Malaysia and Thailand, and the Andaman Islands. Beyond the impact of expansive rice farmers in Melanesia and Australia, hunter-gatherers continued to dominate until they encountered European settlement. Copyright © 2013 Wayne State University Press

  3. Future Discounting in Congo Basin Hunter-Gatherers Declines with Socio-Economic Transitions.

    Directory of Open Access Journals (Sweden)

    Gul Deniz Salali

    Full Text Available Humans have a tendency to discount the future; that is we value small, short-term rewards over larger, long-term rewards. The degree of future discounting, however, changes in response to socio-ecological factors. Here, we study Mbendjele BaYaka hunter-gatherers of northern Congo and their farmer neighbours to investigate adaptations in inter-temporal preferences in humans. We argue that in immediate-return systems, where food storage is absent and egalitarianism is enforced through levelling mechanisms, future discounting is an adaptive strategy to prevent wealth accumulation and the emergence of hierarchies. This ensures food sharing and allows for survival in unpredictable environments where there is risk of an energy shortfall. On the other hand, when food storage is made possible by the emergence of agriculture or as seen in some delayed-return hunter-gatherer populations, wealth accumulation, hierarchies and lower discount rates become the adaptive strategy. Therefore, individuals in immediate-return, egalitarian societies will discount the future more than those in non-egalitarian, delayed-return societies. Consistent with the predictions we found that market integration and socio-economic transitions decrease the future discounting in Mbendjele hunter-gatherers. Our measures of socio-economic differences marked this transition in hunter-gatherers living in a logging town. The degree of future-discounting was the same between more market-integrated hunter-gatherers and their farmer neighbours.

  4. Prevalence of Burnout Syndrome in patients admitted with acute coronary syndrome.

    Science.gov (United States)

    Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

    2015-03-01

    Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp's Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

  5. Incidence of refeeding syndrome in internal medicine patients.

    Science.gov (United States)

    Kraaijenbrink, B V C; Lambers, W M; Mathus-Vliegen, E M H; Siegert, C E H

    2016-03-01

    Refeeding syndrome is a potentially fatal shift of fluids and electrolytes that may occur after reintroducing nutrition in a malnourished patient. Its incidence in internal medicine patients is not known. We aimed at determining the incidence in a heterogeneous group of patients acutely admitted to a department of internal medicine. All patients acutely admitted to the department of internal medicine of a teaching community hospital in Amsterdam, the Netherlands, between 22 February 2011 and 29 April 2011, were included. We applied the National Institute for Health and Care Excellence (NICE) criteria for determining people at risk of refeeding syndrome and took hypophosphataemia as the main indicator for the presence of this syndrome. Of 178 patients included in the study, 97 (54%) were considered to be at risk of developing refeeding syndrome and 14 patients actually developed the syndrome (14% of patients at risk and 8% of study population). Patients with a malignancy or previous malignancy were at increased risk of developing refeeding syndrome (p refeeding syndrome. The Short Nutritional Assessment Questionnaire score had a positive and negative predictive value of 13% and 95% respectively. The incidence of refeeding syndrome was relatively high in patients acutely admitted to the department of internal medicine. Oncology patients are at increased risk of developing refeeding syndrome. When taking the occurrence of hypophosphataemia as a hallmark, no other single clinical or composite parameter could be identified that accurately predicts the development of refeeding syndrome.

  6. The Bentall procedure in patients with Marfan's syndrome.

    Science.gov (United States)

    Nguyen, K H; Ergin, M A; Galla, J D; Lansman, S L; McCullough, J N; Griepp, R B

    1997-01-01

    From 1985 to 1996, 18 patients with Marfan's syndrome underwent the Bentall procedure at Mount Sinai Hospital. They are compared with 38 patients aged Marfan's syndrome who also underwent composite valve-graft replacement of the ascending aorta. The mean age of the non-Marfan group was 33 while that of the Marfan group was 29. Nearly three-quarters of each group were male. Aortic dissection was present in 33% of the Marfan group but only in 18% of the other group. Seventy-eight percent of the Marfan patients and 89% of the non-Marfan patients had aortic regurgitation. Twenty-one percent of the patients in the control group nevertheless had gross aortic pathology suggestive of Marfan's syndrome and may have had variants of the syndrome; 26% of the non-Marfan group had a bicuspid aortic valve. A modification of the Bentall procedure with implantation of coronary artery buttons was performed in the majority of the patients in both groups. Three patients, all in the group with Marfan's syndrome, required a concomitant mitral valve procedure. There was one death in each group. Two non-Marfan patients required reoperation; neither had dissection. Four patients with Marfan's syndrome underwent reoperation for distal disease in the aorta; they comprised one third of the Marfan patients who had aortic dissection. Three late complications occurred in the group with Marfan's syndrome: progressive cardiomyopathy; myocardial infarction; and late tamponade. There were also two late sudden deaths in the group with Marfan's syndrome, which may have been the consequence of aortic rupture. No difference in immediate operative mortality following the Bentall procedure was noted between patients with and without Marfan's syndrome, but young patients without Marfan's syndrome seem to have better event-free and long-term survival. In patients with Marfan's syndrome, the presence of acute dissection makes reoperation more likely, and sudden death from rupture still occurs despite careful

  7. Wild-harvested venison yields and sharing by Michigan deer hunters

    Science.gov (United States)

    Goguen, Amber D.; Riley, Shawn J.; Organ, John F.; Rudolph, Brent A.

    2018-01-01

    An increased societal focus on wildlife as food and recent policy deliberations regarding legal markets for wild-harvested meat are encouraging wildlife managers and researchers to examine the amount, use, and distribution of meat yielded through recreational hunting. We used responses to questions on the Michigan Deer Harvest Study to estimate the maximum yield of edible venison and assess hunters’ sharing behaviors. We estimated 11,402–14,473 metric tons of edible venison were procured during the 2013 hunting season. Of hunters who harvested a deer, 85% shared their venison. Hunters who shared did so with an average of 5.6 people (SD = 4.5). Sharing occurred most frequently within tight social networks: members of hunters’ households (69%), relatives (52%), and friends, neighbors, or coworkers (50%). In the absence of legal markets, venison is distributed widely by hunters and greatly amplifies the number of people benefiting from hunting. Nonetheless, we also identified the potential breadth of exposure to disease or contaminants from wild-harvested meat.

  8. Effect of Piper chaba Hunter, Piper sarmentosum Roxb. and Piper interruptum Opiz. on natural killer cell activity and lymphocyte proliferation.

    Science.gov (United States)

    Panthong, Sumalee; Itharat, Arunporn

    2014-08-01

    Immune system is the most important system ofhuman body. Thaifolk doctors have used some medicinal plants as an adaptogenic drug or immunomodulatory agent. Piper chaba Hunter, Piper sarmentosum Roxb. and Piper interruptum Opiz. are used by folk doctors to activate immune response in cancer patients. To investigate the effect on natural killer cell activity and on lymphocyte proliferation activity of water extract of P chaba Hunter P. sarmentosum Roxb. and P interruptum Opiz. MATERIAL ANDMETHOD: Plant materials were extracted by decoction method. All extracts were testedfor an immunomodulatory effect using PBMCs from twelve healthy donors by chromium release assay. Lymphocyte proliferation was also determined by 3H-thymidine uptake assay. The degree of activation was expressed as the stimulation index. The water extract of P chaba Hunter significantly increased lymphocyte proliferation at concentrations ofl ng/ml, 10 ng/ml, 1 μg/ml, 5 μg/ml, 10 μg/ml and 100 μg/ml. P sarmentosum Roxb., and P interruptum Opiz. extracts at those concentrations significantly stimulated lymphocyteproliferation. P sarmentosum Roxb. extractsignificantly increased natural killer (NK) cell activity at a concentration of 100 μg/ml but P chaba Hunter and P interruptum Opiz. extracts did not significantly stimulate natural killer cell activity. P chaba Hunter, P interruptum Opiz. andP sarmentosum Roxb. have an immunomodulatory effect especially for P sarmentosum Roxb. extract which can activate both lymphocyte proliferation and NK cell activity.

  9. Prevalence of Burnout Syndrome in Patients Admitted with Acute Coronary Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Cláudia Giaxa Prosdócimo

    2015-03-01

    Full Text Available Background: Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS. Objective: To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Methods: Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI, which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE, emotional distancing (EmD, dehumanization (De and professional fulfillment (PF. The Lipp’s Stress Symptoms Inventory for Adults (LSSI was applied to evaluate global stress. Results: Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. Conclusion: We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

  10. Clarifying beliefs underlying hunter intentions to support a ban on lead shot

    Science.gov (United States)

    Schroeder, Susan A.; Fulton, David C.; Doncarlos, Kathy

    2016-01-01

    Shot from hunting adds toxic lead to environments worldwide. Existing lead shot regulations have been instituted with little understanding of hunter beliefs and attitudes. This study applied the Theory of Reasoned Action, using a multilevel, multivariate approach, to clarify how positive and negative beliefs relate to attitudes about a ban on lead shot. Structure coefficients and commonality analysis were employed to further examine relationships between beliefs and attitudes. Results suggest that while both positive and negative outcomes influence attitudes, positive outcomes were more influential for supporters and negative beliefs for opposers. Management may need to focus on the results from hunters who indicated that they would be unlikely to support a ban, as these hunters include those who may actively oppose additional efforts to regulate lead.

  11. A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

    Science.gov (United States)

    Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

    2016-05-01

    In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

  12. Coccidioidomycosis in armadillo hunters from the state of Ceará, Brazil.

    Science.gov (United States)

    Brillhante, Raimunda Sâmia Nogueira; Moreira Filho, Renato Evando; Rocha, Marcos Fábio Gadelha; Castelo-Branco, Débora de Souza Collares Maia; Fechine, Maria Auxiliadora Bezerra; Lima, Rita Amanda Chaves de; Picanço, Yuri Vieira Cunha; Cordeiro, Rossana de Aguiar; Camargo, Zoilo Pires de; Queiroz, José Ajax Nogueira; Araujo, Roberto Wagner Bezerra de; Mesquita, Jacó Ricarte Lima de; Sidrim, José Júlio Costa

    2012-09-01

    Coccidioidomycosis is a systemic mycosis with a variable clinical presentation. Misdiagnosis of coccidioidomycosis as bacterial pneumopathy leads to inappropriate prescription of antibiotics and delayed diagnosis. This report describes an outbreak among armadillo hunters in northeastern Brazil in which an initial diagnosis of bacterial pneumonia was later confirmed as coccidioidomycosis caused by Coccidioides posadasii. Thus, this mycosis should be considered as an alternative diagnosis in patients reporting symptoms of pneumonia, even if these symptoms are only presented for a short period, who are from areas considered endemic for this disease.

  13. Coccidioidomycosis in armadillo hunters from the state of Ceará, Brazil

    Directory of Open Access Journals (Sweden)

    Raimunda Sâmia Nogueira Brillhante

    2012-09-01

    Full Text Available Coccidioidomycosis is a systemic mycosis with a variable clinical presentation. Misdiagnosis of coccidioidomycosis as bacterial pneumopathy leads to inappropriate prescription of antibiotics and delayed diagnosis. This report describes an outbreak among armadillo hunters in northeastern Brazil in which an initial diagnosis of bacterial pneumonia was later confirmed as coccidioidomycosis caused by Coccidioides posadasii. Thus, this mycosis should be considered as an alternative diagnosis in patients reporting symptoms of pneumonia, even if these symptoms are only presented for a short period, who are from areas considered endemic for this disease.

  14. RESISTANT HYPERTENSION IN A PATIENT WITH METABOLIC SYNDROME

    OpenAIRE

    O. M. Drapkina; J. S. Sibgatullina

    2016-01-01

    Clinical case of resistant hypertension in a patient with metabolic syndrome is presented. Features of hypertension in metabolic syndrome and features of metabolic syndrome in women of pre- and postmenopausal age are also considered. Understanding the features of metabolic syndrome in women, as well as features of hypertension and metabolic syndrome will improve the results of treatment in patients with resistant hypertension.

  15. Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

    OpenAIRE

    Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

    2012-01-01

    Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

  16. Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.

    Science.gov (United States)

    Manara, Renzo; Rampazzo, Angelica; Cananzi, Mara; Salviati, Leonardo; Mardari, Rodica; Drigo, Paola; Tomanin, Rosella; Gasparotto, Nicoletta; Priante, Elena; Scarpa, Maurizio

    2010-12-01

    Mucopolysaccharidosis type II (MPS-II, Hunter disease) is a X-linked recessive disorder. Affected females are extremely rare, mostly due to skewed X chromosome inactivation. A few papers outline MPS-II brain magnetic resonance imaging (MRI) "gestalt" in males, but neuroradiological reports on females are still lacking. We present an 11-year-old girl affected by the severe form of MPS-II who was followed up over a time span of 8 years, focusing on clinical and brain MRI evolution. In the last 2.5 years, the patient has been treated with enzyme replacement therapy (ERT) with idursulfase (Elaprase™, Shire Human Genetic Therapies AB, Sweden). On brain and cervical MRI examination, abnormalities in our patient did not differ from those detected in male patients: J-shaped pituitary sella, enlargement of perivascular spaces, brain atrophy, mild T2-hyperintensity in the paratrigonal white matter, diffuse platyspondylia, and mild odontoid dysplasia with odontoid cup. Brain atrophy progressed despite ERT introduction, whereas perivascular space enlargement did not change significantly before and after ERT. Cognitive impairment worsened independently from the course of white matter abnormality. Despite a profound knowledge of genetic and biochemical aspects in MPS-II, neuroradiology is still poorly characterized, especially in female patients. Spinal and brain involvement and its natural course and evolution after ERT introduction still need to be clarified.

  17. Does Lateral Transmission Obscure Inheritance in Hunter-Gatherer Languages?

    Science.gov (United States)

    Bowern, Claire; Epps, Patience; Gray, Russell; Hill, Jane; Hunley, Keith; McConvell, Patrick; Zentz, Jason

    2011-01-01

    In recent years, linguists have begun to increasingly rely on quantitative phylogenetic approaches to examine language evolution. Some linguists have questioned the suitability of phylogenetic approaches on the grounds that linguistic evolution is largely reticulate due to extensive lateral transmission, or borrowing, among languages. The problem may be particularly pronounced in hunter-gatherer languages, where the conventional wisdom among many linguists is that lexical borrowing rates are so high that tree building approaches cannot provide meaningful insights into evolutionary processes. However, this claim has never been systematically evaluated, in large part because suitable data were unavailable. In addition, little is known about the subsistence, demographic, ecological, and social factors that might mediate variation in rates of borrowing among languages. Here, we evaluate these claims with a large sample of hunter-gatherer languages from three regions around the world. In this study, a list of 204 basic vocabulary items was collected for 122 hunter-gatherer and small-scale cultivator languages from three ecologically diverse case study areas: northern Australia, northwest Amazonia, and California and the Great Basin. Words were rigorously coded for etymological (inheritance) status, and loan rates were calculated. Loan rate variability was examined with respect to language area, subsistence mode, and population size, density, and mobility; these results were then compared to the sample of 41 primarily agriculturalist languages in [1]. Though loan levels varied both within and among regions, they were generally low in all regions (mean 5.06%, median 2.49%, and SD 7.56), despite substantial demographic, ecological, and social variation. Amazonian levels were uniformly very low, with no language exhibiting more than 4%. Rates were low but more variable in the other two study regions, in part because of several outlier languages where rates of borrowing were

  18. Comparing Road-Kill Datasets from Hunters and Citizen Scientists in a Landscape Context

    Directory of Open Access Journals (Sweden)

    Florian Heigl

    2016-10-01

    Full Text Available Road traffic has severe effects on animals, especially when road-kills are involved. In many countries, official road-kill data are provided by hunters or police; there are also road-kill observations reported by citizen scientists. The aim of the current study was to test whether road-kill reports by hunters stem from similar landscapes than those reported by citizen scientists. We analysed the surrounding landscapes of 712 road-kill reportings of European hares in the province of Lower Austria. Our data showed that road-killed hares reported both by hunters and citizens are predominantly surrounded by arable land. No difference of hedges and solitary trees could be found between the two datasets. However, significant differences in landcover classes and surrounding road networks indicate that hunters’ and citizen scientists’ data are different. Hunters reported hares from landscapes with significantly higher percentages of arable land, and greater lengths of secondary roads. In contrast, citizens reported hares from landscapes with significantly higher percentages of urban or industrial areas and greater lengths of motorways, primary roads, and residential roads. From this we argue that hunters tend to report data mainly from their hunting areas, whereas citizens report data during their daily routine on the way to/from work. We conclude that a citizen science approach is an important source for road-kill data when used in addition to official data with the aim of obtaining an overview of road-kill events on a landscape scale.

  19. Vaginal rhabdomyosarcoma in a patient with Noonan syndrome.

    OpenAIRE

    Khan, S; McDowell, H; Upadhyaya, M; Fryer, A

    1995-01-01

    This is the first report of a Noonan syndrome patient who has had a vaginal rhabdomyosarcoma. Recent reports of Noonan syndrome patients with leukaemia have prompted speculation that there may be a slightly increased malignancy risk associated with this syndrome.

  20. "The Deer Hunter": Rhetoric of the Warrior.

    Science.gov (United States)

    Rushing, Janice Hocker; Frentz, Thomas S.

    A psychological/ritual model of criticism is used to examine the movie "The Deer Hunter" as a rhetorical event in which males undergo psychological change through their war and postwar experiences. The critical model depends on understanding a Jungian interpretation of the human psyche, the form and function of initiation rituals, and…

  1. Frequency of Metabolic Syndrome and Its Components in Patients with Carpal Tunnel Syndrome

    International Nuclear Information System (INIS)

    Iftikhar, S.; Javed, M. A.; Kasuri, M. N.

    2016-01-01

    Objective: To determine the frequency of metabolic syndrome and its components in patients with carpal tunnel syndrome. Study Design: Case-series. Place and Duration of Study: Department of Neurology, Mayo Hospital, Lahore, from January to June 2012. Methodology: Seventy-five (64 females and 11 males) patients with clinically diagnosed and electrodiagnostically confirmed carpal tunnel syndrome were inducted. Their waist circumference, blood pressure, fasting blood glucose, fasting triglycerides and high density lipoprotein cholesterol levels were recorded. Patients were categorized having metabolic syndrome according to Adult Treatment Panel III criteria, if any 3 were present out of hypertension, elevated fasting triglycerides, reduced high density lipoprotein cholesterol, elevated fasting blood glucose, and elevated waist circumference. Result: Mean age of the patients was 42.04±9.31 years, mean waist circumference was 95.32±9.03 cm, mean systolic blood pressure was 134.13±13.72 mmHg, mean diastolic blood pressure was 89.13±8.83 mmHg, mean fasting blood glucose was 94.35±21.81 mg/dl, mean fasting triglycerides was 177.48±48.69 mg/dl, and mean high density lipoprotein cholesterol was 41.95±11.17 mg/dl. Metabolic syndrome was found in 54 (72 percentage) patients including 9 (16.7 percentage) males and 45 (83.3 percentage) females. Out of 75 patients, 54 (72 percentage) had elevated waist circumference, 52 (69.3 percentage) had elevated blood pressure, 19 (25.3 percentage) had elevated fasting blood glucose, 53 (70.6 percentage) had elevated fasting triglycerides and 54 (72 percentage) had reduced high density lipoprotein cholesterol. Highest frequency of metabolic syndrome was found in age range of 40 - 49 years in both genders. Conclusion: Metabolic syndrome is frequently found in the patients with carpal tunnel syndrome. (author)

  2. Supernumerary teeth in non-syndromic patients

    International Nuclear Information System (INIS)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

    2012-01-01

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  3. Twenty-two patients with Sotos' syndrome

    International Nuclear Information System (INIS)

    Miyake, Shota; Tada, Hiroshi; Hayashi, Michiko; Iwamoto, Hiroko; Fukushima, Yoshimitsu; Kuroki, Yoshikazu

    1985-01-01

    A retrospective study of 22 patients with Sotos' syndrome (17 boys and 5 girls) seen in the past 14 years was made respecting the age of the patients at the first visit, the age of the patients' parents at birth, neonatal abnormalities, neonatal physical characteristics, facial expression characteristics of this syndrome, growth index, and CT findings. CT showed ventricular dilation in all patients (moderate or extreme dilation in 87%, and the association of structure abnormality in the median part in many patients), subdural edema in 4 and arachnoid cyst in 2. (Namekawa, K.)

  4. Hunter versus CIE color measurement systems for analysis of milk-based beverages.

    Science.gov (United States)

    Cheng, Ni; Barbano, David M; Drake, Mary Anne

    2018-06-01

    The objective of our work was to determine the differences in sensitivity of Hunter and International Commission on Illumination (CIE) methods at 2 different viewer angles (2 and 10°) for measurement of whiteness, red/green, and blue/yellow color of milk-based beverages over a range of composition. Sixty combinations of milk-based beverages were formulated (2 replicates) with a range of fat level from 0.2 to 2%, true protein level from 3 to 5%, and casein as a percent of true protein from 5 to 80% to provide a wide range of milk-based beverage color. In addition, commercial skim, 1 and 2% fat high-temperature, short-time pasteurized fluid milks were analyzed. All beverage formulations were HTST pasteurized and cooled to 4°C before analysis. Color measurement viewer angle (2 vs. 10°) had very little effect on objective color measures of milk-based beverages with a wide range of composition for either the Hunter or CIE color measurement system. Temperature (4, 20, and 50°C) of color measurement had a large effect on the results of color measurement in both the Hunter and CIE measurement systems. The effect of milk beverage temperature on color measurement results was the largest for skim milk and the least for 2% fat milk. This highlights the need for proper control of beverage serving temperature for sensory panel analysis of milk-based beverages with very low fat content and for control of milk temperature when doing objective color analysis for quality control in manufacture of milk-based beverages. The Hunter system of color measurement was more sensitive to differences in whiteness among milk-based beverages than the CIE system, whereas the CIE system was much more sensitive to differences in yellowness among milk-based beverages. There was little difference between the Hunter and CIE system in sensitivity to green/red color of milk-based beverages. In defining milk-based beverage product specifications for objective color measures for dairy product

  5. Male patients with partial androgen insensitivity syndrome

    DEFF Research Database (Denmark)

    Hellmann, Philip; Christiansen, Peter; Johannsen, Trine Holm

    2012-01-01

    To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome.......To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome....

  6. Lynch syndrome: the patients' perspective

    NARCIS (Netherlands)

    Seppen, Jurgen; Bruzzone, Linda

    2013-01-01

    People with Lynch syndrome have a high lifetime risk for the development of colorectal, endometrial and several other types of cancer. Lynch syndrome is caused by germline mutations in genes encoding DNA mismatch repair proteins. In this review, issues that concern Lynch patients are highlighted

  7. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

    Science.gov (United States)

    Carcavilla, Atilano; García-Miñaúr, Sixto; Pérez-Aytés, Antonio; Vendrell, Teresa; Pinto, Isabel; Guillén-Navarro, Encarna; González-Meneses, Antonio; Aoki, Yoko; Grinberg, Daniel; Ezquieta, Begoña

    2015-01-20

    To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome). Clinical data from patients submitted for genetic analysis were collected. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, and MAP2K1 focused on exons carrying recurrent mutations, and of all KRAS exons were performed. Six different mutations in BRAF were identified in 9 patients, as well as 2 MAP2K1 mutations. Short stature, developmental delay, language difficulties and ectodermal anomalies were more frequent in CFC patients when compared with other neuro-cardio-faciocutaneous syndromes (P<.05). In at least 2 cases molecular testing helped reconsider the diagnosis. CFC patients showed a rather severe phenotype but at least one patient with BRAF mutation showed no developmental delay, which illustrates the variability of the phenotypic spectrum caused by BRAF mutations. Molecular genetic testing is a valuable tool for differential diagnosis of CFC and NS related disorders. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  8. Geriatric syndromes in patients with chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Tomasz Gołębiowski

    2016-06-01

    Full Text Available The recent epidemiologic data pointed out, that the general number of patients on hemodialysis is steadily increasing, especially in group of elderly patients over 75 years old. The geriatric syndromes are a multietiological disorder related to physiological aging and partly associated with comorbid conditions. Frailty, falls, functional decline and disability, cognitive impairment and depression are main geriatric syndromes and occurs in patients with impaired renal function more often than among general population. The causes of higher prevalence of those syndromes are not well known, but uremic environment and overall renal replacement therapy may have an important impact on its progress. The patient with geriatric syndrome require comprehensive treatment as well as physical rehabilitation, psychiatric cure and support in everyday activities.Herein below we would like to review recent literature regarding to particular features of main geriatric syndromes in a group of nephrological patients.

  9. Gender differences in patients with obesity hypoventilation syndrome.

    Science.gov (United States)

    BaHammam, Ahmed S; Pandi-Perumal, Seithikurippu R; Piper, Amanda; Bahammam, Salman A; Almeneessier, Aljohara S; Olaish, Awad H; Javaheri, Shahrokh

    2016-08-01

    The role of gender and menopause in obstructive sleep apnoea is well known; however, no study has reported the impact of gender on the clinical presentation and the nocturnal respiratory events in patients with obesity hypoventilation syndrome. Therefore, this study prospectively evaluated differences in the clinical characteristics of women and men with obesity hypoventilation syndrome in a large cohort of patients with obstructive sleep apnoea. During the study period, a total of 1973 patients were referred to the sleep clinic with clinical suspicion of obstructive sleep apnoea. All patients underwent overnight polysomnography, during which time spirometry, arterial blood samples and thyroid tests were routinely obtained. Among 1973 consecutive patients, 1693 (617 women) were diagnosed with obstructive sleep apnoea, among whom 144 suffered from obesity hypoventilation syndrome (96 women). The prevalence of obesity hypoventilation syndrome among women and men was 15.6% and 4.5%, respectively (P obesity hypoventilation syndrome were significantly older than men with obesity hypoventilation syndrome (61.5 ± 11.9 years versus 49.1 ± 12.5 years, P differences between genders regarding symptoms, body mass index, spirometric data or daytime PaCO2 , women with obesity hypoventilation syndrome suffered significantly more from hypertension, diabetes and hypothyroidism. The prevalence of obesity hypoventilation syndrome was higher in post-menopausal (21%) compared with pre-menopausal (5.3%) women (P obesity hypoventilation syndrome. In conclusion, this study reported that among subjects referred to the sleep disorders clinic for evaluation of obstructive sleep apnoea, obesity hypoventilation syndrome is more prevalent in women than men, and that women with obesity hypoventilation syndrome suffer from significantly more co-morbidities. Post-menopausal women with obstructive sleep apnoea have the highest prevalence of obesity hypoventilation syndrome. © 2016

  10. Parent-of-origin effects in Turner Syndrome patients

    OpenAIRE

    Wang, Jada; Styers, Marshall; Sayres, Melissa Wilson

    2015-01-01

    Turner Syndrome patients have a single X chromosome, without a partner, X or Y. It has been suggested that the inheritance of the maternal X or paternal X may affect the severity of Turner Syndrome, as well as the incidence of mental disorders in Turner Syndrome individuals. Parental imprinting on the X chromosome may lead to different phenotypic variations in Turner Syndrome patients. In this project, we conduct an analysis of the current state of research on Turner Syndrome, and review the ...

  11. [metabonomics research on coronary heart disease patients of phlegm turbidity syndrome and qi deficiency syndrome].

    Science.gov (United States)

    Cheng, Peng; Chen, Ze-qi; Wang, Dong-sheng

    2015-02-01

    To study the correlation between Chinese medical types of coronary heart disease (CHD) [i.e., phlegm turbidity syndrome (PTS) and qi deficiency syndrome (QDS)] and their metabolites. Recruited were 65 CHD patients including 37 cases of PTS and 28 cases of QDS. Serum endogenous metabolites in the two syndrome types were determined by gas chromatograph-mass spectrometer-computer (GC/MS), and their differences between their metabolic profiles analyzed. More than 100 chromatographic peaks were totally scanned. Chromatograms obtained was matched with mass spectrum bank, and finally we got the category contribution value of 46 kinds of substances. Results of MCTree analysis showed patients of PTS and patients of QDS could be effectively distinguished. Compounds contributing to identify the two syndromes were sequenced as serine, valine, 2 hydroxy propionic acid. Comparison of metabolites showed contents of serine and 2 hydroxy propionic acid were higher in patients of PTS than in patients of QDS (Pmetabonomics of CHD TCM syndrome types could provide material bases for TCM syndrome differentiation of CHD, indicating that metabonomics technologies might become a new research method for TCM syndrome typing.

  12. Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    Ali Al Kaissi

    2013-01-01

    Full Text Available Background A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal's syndrome and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. Methods In this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotypic characterization. Results Our patients manifested a constellation of variable presentations of musculo-skeletal abnormalities ranging from developmental dysplasia of the hip, protrusio acetabuli, leg length inequality, patellar instability, scoliosis, to early onset osteoarthritis. Each abnormality has been treated accordingly. Conclusion This is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities.

  13. Supernumerary teeth in non-syndromic patients

    Energy Technology Data Exchange (ETDEWEB)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh [Nair Hospital Dental College, Maharashtra (India)

    2012-03-15

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  14. Celiac disease in patients with Williams-Beuren syndrome.

    Science.gov (United States)

    Mıhçı, Ercan; Nur, Banu Güzel; Berker-Karaüzüm, Sibel; Yılmaz, Aygen; Artan, Reha

    2015-01-01

    Celiac disease is an autoimmune, gastrointestinal disorder characterized by intolerance to the dietary grain protein gluten. An increased prevalence of celiac disease has been reported in Down syndrome and Turner syndrome, but there has been only few previous reports with respect to the association of celiac disease in Williams-Beuren syndrome. The aim of this study was to evaluate the frequency of celiac disease in our 24 Williams-Beuren syndrome patients. Gastrointestinal problems and celiac disease symptoms of patients were noted. All patients were analyzed by the titer of tissue transglutaminases IgA and IgG. HLA genotyping and intestinal biopsy was performed to the patients with positive serology. We also performed gluten free diet in the presence of compatible symptoms, serology, HLA genotyping and intestinal biopsy. In our study, two patients had positive tTG antibodies, but only one had positive biopsy finding for celiac disease. The frequency of celiac disease in patients with Williams-Beuren syndrome was estimated as 1/24 (4.1%). Though the number of participants in this study was limited, the results show that the frequency of celiac disease is higher in Williams-Beuren syndrome compared to the general population. We suggest that a high suspicion and testing for celiac disease should be recommended at certain intervals in all cases with Williams-Beuren syndrome to detect the cause of growth retardation and gastrointestinal problems.

  15. Fiber-optic displacement sensors on the Hunters Trophy UGT impulse gauge experiments

    Energy Technology Data Exchange (ETDEWEB)

    Green, R.E.L.; Poutiatine, A.I.

    1995-03-01

    As part of a program to develop gauges for measurement of various mechanical properties in hostile environments, the authors fielded purely optical displacement sensors at the ends of long fiber-optic cables as supplements to the regular displacement sensors of four impulse gauges fielded as part of a materials study on the Hunters Trophy underground effects test at the Nevada Test Site. These fiber-optic sensor systems and their performance on the Hunters Trophy test are described in this report.

  16. BURNOUT SYNDROME IN PATIENTS WITH WORKPLACE HYPERTENSION

    Directory of Open Access Journals (Sweden)

    Yu. P. Zinchenko

    2016-01-01

    Full Text Available Aim. To study the presence, severity and qualitative characteristics of «burnout syndrome» in patients with «workplace hypertension» (WPH, in comparison with patients with essential hypertension and healthy people.Material and methods. Untreated patients with hypertension stage II, degree 1-2 (n=170; age 32-52 years; mean age 46.7Ѓ}4.1 years were examined. Group 1 included 85 patients with WPH (mean age 44.7Ѓ}4.3 years and Group 2 included 85 patients without WPH (mean age 47.4Ѓ}4.5 years. The duration of hypertension on average was 7.2Ѓ}2.6 years and was comparable in both groups. The control group included 82 healthy subjects (mean age 44.9Ѓ}3.1 years. The Russian version of the Maslach Burnout Inventory (MBI was used to diagnose «burnout syndrome».Results. Signs of «burnout syndrome» were found in the hypertensive patients of both groups. The high and medium levels of the «burnout syndrome» severity according to all three analyzed factors (emotional exhaustion, dehumanization/depersonification, and personal achievements were found in 59% of WPH patients, in 36% of hypertensive patients without WPH, and in 9% of healthy individuals. Most of WPH patients had high emotional exhaustion compared with other groups (27.5Ѓ}3.67 points vs 24.6Ѓ}4.3 and 20.1Ѓ}5.7 points in group 2, and group of healthy, respectively; p<0.05. Hypertensive men rated themselves as less successful professionally in comparison with women. Hypertensive women were more prone to emotional exhaustion and dehumanization/depersonification in comparison with men. Conclusion. Signs of «burnout syndrome» were found significantly more often in hypertensive patients in both groups than in healthy people. Medium and high intensity of all forms of «burnout syndrome» occurred in patients with WPH in comparison with healthy people and hypertensive patients without WPH.

  17. Síndrome de Hunter-Hurler

    Directory of Open Access Journals (Sweden)

    Antonio B. Lefèvre

    1954-03-01

    Full Text Available Les deux cas de gargoylisme présentés ont appelé l'attention des auteurs et ont mérité leur publication vue la rareté de la maladie en question. Le diagnostic repose en un certain nombre de signes cliniques, lesquels, cependant, n'ont pas besoin d'être au complet pour que l'on puisse affermir le diagnostic du syndrome de Hunter-Hurler. C'est ce qui arrive, d'ailleurs, avec la majorité des maladies de caractère génétique, dans les-quelles il est possible de verifier la transmission de quelques traits seule-ment de Pensemble clinique, insuffisants pour caractériser la maladie sous tous ses aspects, mais suffisants pour permettre un diagnostic très sûr. Cas nº 1: les auteurs font ressortir la face caractéristique de la maladie, la petite taille, les doigts en griffe, les alterations très caractéristiques de forme des vertèbres lombaires et le retard psycho-moteur considérable; comme antécédents familiaux, il a été constaté qu'une cousine-germaine du côté paternel de la malade est morte à 1'âge de 12 ans d'une maladie semblable. Cas nº 2: ici ressortent la face caractéristique, la petite taille, le développement retardé, les altérations des vertèbres lombaires et, à l'examen oculaire, un aspect suggestif de l'opacité cornéenne considérée comme pathognomonique du gargoylisme. Aucun traitement a été tenté dans les deux cas.

  18. Targeting hunter distribution based on host resource selection and kill sites to manage disease risk.

    Science.gov (United States)

    Dugal, Cherie J; van Beest, Floris M; Vander Wal, Eric; Brook, Ryan K

    2013-10-01

    Endemic and emerging diseases are rarely uniform in their spatial distribution or prevalence among cohorts of wildlife. Spatial models that quantify risk-driven differences in resource selection and hunter mortality of animals at fine spatial scales can assist disease management by identifying high-risk areas and individuals. We used resource selection functions (RSFs) and selection ratios (SRs) to quantify sex- and age-specific resource selection patterns of collared (n = 67) and hunter-killed (n = 796) nonmigratory elk (Cervus canadensis manitobensis) during the hunting season between 2002 and 2012, in southwestern Manitoba, Canada. Distance to protected area was the most important covariate influencing resource selection and hunter-kill sites of elk (AICw = 1.00). Collared adult males (which are most likely to be infected with bovine tuberculosis (Mycobacterium bovis) and chronic wasting disease) rarely selected for sites outside of parks during the hunting season in contrast to adult females and juvenile males. The RSFs showed selection by adult females and juvenile males to be negatively associated with landscape-level forest cover, high road density, and water cover, whereas hunter-kill sites of these cohorts were positively associated with landscape-level forest cover and increasing distance to streams and negatively associated with high road density. Local-level forest was positively associated with collared animal locations and hunter-kill sites; however, selection was stronger for collared juvenile males and hunter-killed adult females. In instances where disease infects a metapopulation and eradication is infeasible, a principle goal of management is to limit the spread of disease among infected animals. We map high-risk areas that are regularly used by potentially infectious hosts but currently underrepresented in the distribution of kill sites. We present a novel application of widely available data to target hunter distribution based on host resource

  19. Hearing impairment in genotyped Wolfram syndrome patients.

    NARCIS (Netherlands)

    Plantinga, R.F.; Pennings, R.J.E.; Huygen, P.L.M.; Bruno, R.; Eller, P.; Barrett, T.G.; Vialettes, B.; Paquis-Fluklinger, V.; Lombardo, F.; Cremers, C.W.R.J.

    2008-01-01

    OBJECTIVES: Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment.

  20. Salinity and resource management in the Hunter Valley

    Energy Technology Data Exchange (ETDEWEB)

    Creelman, R.A.; Cooke, R.; Simons, M. [RA Creelman & Associates (Australia)

    1995-08-01

    If excess water salinity is to be managed in the Hunter Valley, its causes and behaviour must be understood. Although Hunter Valley hydrology, hydrogeology and hydrogeochemistry require further study, there is now enough information available to begin the development of both temporal and spatial models as valley management tools. Currently the Department of Water Resources is developing a model known as Integrated Water Quality and Quantity Model (IQQM). IQQM which includes a salinity module is essentially a surface water simulation model. It wll enable testing of alternate management and operation policies such as the salinity property rights trading scheme recently introduced by the EPA to manage salt release from coal mines and power stations. An overview is presented of the progress made to date on the salinity module for IQQM, and an outline is given of the geological and hydrogeochemical concepts that have been assembled to support the salinity module of IQQM. 17 refs., 3 figs., 1 tab.

  1. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient.

    Science.gov (United States)

    Morgado, Pedro; Ribeiro, Ricardo; Cerqueira, João J

    2015-01-01

    Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient's symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

  2. [Characteristics of traditional Chinese medicine syndromes in patients with acute ischemic stroke of yin or yang syndrome: a multicenter trial].

    Science.gov (United States)

    You, Jin-song; Huang, Yan; Cai, Ye-feng; Guo, Jian-wen; Liang, Wei-xiong; Huang, Pei-xin; Liu, Mao-cai

    2008-04-01

    To explore the composition characteristics of traditional Chinese medicine (TCM) syndromes in patients with acute ischemic stroke of yin or yang syndrome by investigating the characteristics of TCM syndromes at different periods after onset. One thousand two hundred and forty-six patients with acute ischemic stroke were admitted in twenty hospitals. According to the "diagnostic criteria of syndrome differentiation of stroke", the characteristics of syndromes in the patients were investigated at the periods of 1-3 days, 4-10 days and 11-30 days after they had ischemic stroke. General distribution of six basic syndromes was compared between the patients with yin syndrome and the patients with yang syndrome at the three periods. The six basic syndromes were wind syndrome, pathogenic fire syndrome, phlegm syndrome, blood stasis syndrome, qi deficiency syndrome, and syndrome of yin deficiency and yang hyperactivity. The percentages of wind, pathogenic fire, and phlegm syndromes in the patients were decreased at the period of 11-30 days as compared with the period of 1-3 days (87.1% vs 79.3%, 52.1% vs 38.7% and 67.1% vs 57.4% respectively, P0.05). There were no differences in the distribution of yin and yang syndromes among the three periods (P>0.05). The percentages of syndromes of wind, pathogenic fire, phlegm, and yin deficiency and yang hyperactivity were higher (Pfour or five syndromes were higher, and the percentages of single-syndromes and complex syndromes of two syndromes were lower in patients with yang syndrome than in patients with yin syndrome (P<0.05, P<0.01). The most frequent complex syndromes in patients with yin syndrome were complex syndrome of wind, phlegm, blood stasis and qi deficiency, and complex syndrome of wind, phlegm and qi deficiency; while the most frequent complex syndromes in patients with yang syndrome were complex syndrome of wind, pathogenic fire, phlegm and qi deficiency, and complex syndrome of wind, pathogenic fire and phlegm. The

  3. Cachexia Syndrome, anorexia patient

    International Nuclear Information System (INIS)

    Roldán, G.; Musé, I.

    2004-01-01

    Introduction: Two thirds of patients (ptes) cancer present slimming recognized a negative prognostic factor. Anorexia cachexia syndrome (SCA) results from the interaction of multiple factors and causes death of 22% of these patients. Nutritional support produces a moderate recovery weight without affecting the underlying metabolic disorders. Objectives: Conduct a review of current knowledge of the underlying pathophysiology and management the cachexia-anorexia syndrome in cancer patients. Designing indications possible policy interventions in the management of these patients. Method: Performed an a literature review on SCA. Conclusions: We identify patients at risk for early implementation of non-pharmacological measures preventive. The control side effects to treatment oncospecific with particular attention to the need for antiemetics, laxatives / antidiarrheal control dental and proper pain management is fundamental. Keep track enteral is a priority. In those with swallowing disorders or dysphagia, nasogastric feeding tube should be considered early. Indications for gastrostomy / jejunostomy and total parenteral nutrition (TPN) are very limited. The NPT is a complementary treatment maneuver a temporary and reversible complication, in order to prevent deterioration

  4. perceptions and adaptations of beekeepers and honey hunters

    African Journals Online (AJOL)

    Prof. Adipala Ekwamu

    honey sector (i.e. honey hunters) to climate change are, however, not adequately explored. The objective of .... The statistical software SPSS Version 16 was used for this purpose. ... content analysis is an effort of interpretation, that balances ... FORM. Discontinue. N o = 0 ; Yes = 1. ±. Creditavability. CRED. Discontinue. N.

  5. Irritable Bowel Syndrome in a Population of African Patients

    Directory of Open Access Journals (Sweden)

    Sylvester Chuks Nwokediuko

    2012-01-01

    Full Text Available Background. Functional dyspepsia is the prototype functional gastrointestinal disorder. This study was designed to determine its prevalence, subtypes, and risk factors associated with the subtypes. Method. Patients with upper gastrointestinal symptoms who presented for endoscopy were administered a questionnaire containing the functional dyspepsia and irritable bowel syndrome modules of the Rome III diagnostic criteria. Results. Of 192 patients who had functional dyspepsia, epigastric pain syndrome, postprandial distress syndrome, and combination of the two subtypes accounted for 79.2%, 62.5%, and 50%, respectively. Multivariate analysis of the risk factors showed that independent predictors of postprandial distress syndrome were alcohol and irritable bowel syndrome while irritable bowel syndrome was independent predictor of epigastric pain syndrome. Alcohol, smoking, and use of nonsteroidal anti-inflammatory drugs were independent predictors of cooccurrence of postprandial distress syndrome and epigastric pain syndrome. Conclusion. Functional dyspepsia accounts for 62.5% of dyspepsia in a population of black African patients. Regarding symptomatology, epigastric pain syndrome, postprandial distress syndrome, and combination of the two subtypes account for 79.2%, 62.5%, and 50%, respectively. Risk factors for functional dyspepsia are irritable bowel syndrome, alcohol, smoking, and use of nonsteroidal anti-inflammatory drugs.

  6. [A patient with Noonan syndrome].

    Science.gov (United States)

    Bins, A; Gortzak, R A Th

    2013-12-01

    Noonan syndrome is a relatively common autosomal dominant genetic disorder which is characterised by typical facial features, congenital heart diseases and small stature. In 50% of the cases the syndrome is caused by a mutation on the PTPN11-gen. The expression of symptoms associated with Noonan syndrome can be very mild in nature and facial features usually become less pronounced with age, which can sometimes make a correct diagnosis more difficult. Despite a wide range of associated symptoms most adults with Noonan syndrome can be self-sustaining, with a good quality of life. It is important that the dentist is well-informed about this syndrome due to the heart diseases and bleeding disorders which can be present with these patients and may influence a dentist's choice of therapy when invasive treatment is indicated.

  7. Project CHECO Southeast Asia Report. OV-1/AC-119 Hunter-Killer Team

    Science.gov (United States)

    1972-10-10

    between Phan Rang, Phu Cat , and Danang in order to provide best coverage of the Vietnamese conflict. -- On 16 February 1970, three AC -ll9Ks and 70...SOUTHEAST ASIA D D DDiv AY/XDOSQA I OV-1/ AC -119 " i IWB I HUNTER-KILLER TEAM 19’.1’ CONTINUING REPORT CLASSIFIED Ey 7AFIDOOC DOWNGRADE TjU SECRET...xamination of C urrent, 0 per’tions I~ I fF!lr T I TII TIIII I OV=1/ AC -119 HUNTER-KILLER TEAMI 1 10 OCTOBER 1972 HQ PACAF Directorate of Operations

  8. Ethical acceptability of recreational hunting - does the motive of the hunter matter?

    DEFF Research Database (Denmark)

    Gamborg, Christian; Jensen, Frank Søndergaard; Sandøe, Peter

    2016-01-01

    Recreational hunting can be a way of taking responsibility for acquiring one’s own meat. However, many recreational hunters focus instead on hunting as a hobby or sport. This distinction, between two rather different motives for hunting, is relevant to the activity’s moral justifiability. The pub......Recreational hunting can be a way of taking responsibility for acquiring one’s own meat. However, many recreational hunters focus instead on hunting as a hobby or sport. This distinction, between two rather different motives for hunting, is relevant to the activity’s moral justifiability...

  9. Cryoglobulinemic vasculitis in a patient with CREST syndrome.

    Science.gov (United States)

    Hurst, Rebecca L; Berianu, Florentina; Ginsburg, William W; Klein, Christopher J; Englestad, Janean K; Kennelly, Kathleen D

    2014-10-01

    Cryoglobulinemic vasculitis is a rare entity. Although it has been reported in diffuse systemic sclerosis, it has not been reported in calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia (CREST) syndrome. We report a patient with cryoglobulinemic vasculitis with CREST syndrome who did not have typical clinical features of vasculitis. This 58-year-old woman presented with mild generalized weakness and a diagnosis of CREST syndrome, which included Raynaud's syndrome, dysphagia and telangiectasias. She was positive for serum cryoglobulins, which led to a sural nerve biopsy. The biopsy results were consistent with cryoglobulinemic vasculitis. Cryoglobulinemic vasculitis has not been previously reported in CREST syndrome to our knowledge. Additionally, the patient also had limited clinical symptoms. Our patient displays the importance of checking for cryoglobulins and obtaining a nerve biopsy when the serum is positive. Both of these diagnostic tests were integral for directing appropriate treatment for this patient. Copyright © 2014 Elsevier Ltd. All rights reserved.

  10. Frailty syndrome in patients with heart rhythm disorders.

    Science.gov (United States)

    Mlynarska, Agnieszka; Mlynarski, Rafal; Golba, Krzysztof S

    2017-09-01

    To assess the prevalence of frailty syndrome in patients with heart rhythm disorders that qualified for pacemaker implantation. The study included 171 patients (83 women, aged 73.9 ± 6.7 years) who qualified for pacemaker implantation as a result of sinus node dysfunction (81 patients) or atrio-ventricular blocks (AVB; 90 patients). A total of 60 patients (25 women, aged 72.40 ± 7.09 years) without heart rhythm disorders were included in the control group. Frailty syndrome was diagnosed using the Canadian Study of Health and Aging Clinical Frailty Scale test. Frailty syndrome was diagnosed in 25.15% of the patients, and pre-frailty in 36.84% of the patients. Frailty syndrome was diagnosed in 10% of the control group, and the average value of frailty was 3.35 ± 0.92. Frailty occurred significantly more often among patients with AVB (33.34%) compared with patients who were diagnosed with sinus node dysfunction (16.05%); P = 0.0081. The average score of frailty for sinus node dysfunction was 3.71 ± 0.89, and for AVB it was 4.14 ± 0.93; P = 0.0152. In the case of AVB, the women had a statistically more intense level of frailty of 4.54 ± 0.90 as compared with the men 3.87 ± 0.85; P = 0.0294. In the multiple logistic analysis, the presence of any arrhythmia was strongly associated with frailty syndrome (OR 2.1286, 95% CI 1.4594 - 3.1049; P = 0.0001). Frailty syndrome was diagnosed in one-quarter of patients with cardiac arrhythmias, whereas a further 40% were at a higher risk of frailty syndrome, and its occurrence was significantly higher if compared with the control group. Frailty occurred significantly more often among patients with atrio-ventricular blocks, especially in women. The results of the present research showed that there is a statistical association between frailty and arrhythmias. Geriatr Gerontol Int 2017; 17: 1313-1318. © 2016 Japan Geriatrics Society.

  11. Femur Neck Fracture in a Young Marfan Syndrome Patient.

    Science.gov (United States)

    Kwon, Yong-Uk; Kong, Gyu-Min; Park, Jun-Ho

    2016-12-01

    Marfan syndrome is an autosomal dominant and could decrease bone mineral density. So patients with Marfan syndrome could vulnerable to trauma in old ages. We present the first report, to the best of our knowledge, of a rare fracture of the femoral neck with a minor traumatic history in a juvenile Marfan syndrome patient whose physis is still open. Although the patient is young, her bone mineral density was low and the geometry of femur is changed like old ages. The femur neck fracture in children is very rare and only caused by high energy trauma, we concluded that the Marfan syndrome makes the bone weaker in young age and preventative medications to avoid fractures in younger Marfan syndrome patients are necessary in early ages.

  12. Hunter Syndrome

    Science.gov (United States)

    ... type and severity of the disease. Complications can affect the lungs, heart, joints, connective tissue, and brain and nervous system. Respiratory complications An enlarged tongue, thickened gums, and ...

  13. Metabolic syndrome in Tunisian bipolar I patients | Ezzaher | African ...

    African Journals Online (AJOL)

    Gender, age, illness episode and treatment were not significantly associated with metabolic syndrome, while patients under lithium had higher prevalence of metabolic syndrome than those under valproic acid, carbamazepine or antipsychotics. Patients with metabolic syndrome had significant higher levels of HOMA-IR and ...

  14. Radium issues at Hunters Point Annex

    International Nuclear Information System (INIS)

    Dean, S.M.

    1994-01-01

    Radium was a common source of illumination used in numerous instruments and gauges for military equipment prior to 1970. As a result of its many military applications radium 226 is now a principle radionuclide of concern at military base closures sites throughout the United States. This is an overview of the site characterization strategy employed and a potential site remediation technology being considered at a radium contaminated landfill at Hunters Point Annex, a former U.S. Navy shipyard in San Francisco, California

  15. Comparing Road-Kill Datasets from Hunters and Citizen Scientists in a Landscape Context

    OpenAIRE

    Florian Heigl; Carina R. Stretz; Wolfgang Steiner; Franz Suppan; Thomas Bauer; Gregor Laaha; Johann G. Zaller

    2016-01-01

    Road traffic has severe effects on animals, especially when road-kills are involved. In many countries, official road-kill data are provided by hunters or police; there are also road-kill observations reported by citizen scientists. The aim of the current study was to test whether road-kill reports by hunters stem from similar landscapes than those reported by citizen scientists. We analysed the surrounding landscapes of 712 road-kill reportings of European hares in the province of Lower Aust...

  16. Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.

    Science.gov (United States)

    Bonanni, Paolo; Casellato, Susanna; Fabbro, Franco; Negrin, Susanna

    2017-10-01

    Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope. Duration of the seizures could be brief or lengthy. Interictal EEGs revealed functional multifocal abnormalities. The evolution was benign in all patients with seizures remission before the age of 14. This observation expands the spectrum of benign epileptic phenotypes present in Fragile-X-syndrome and may be quite helpful in guiding anticonvulsant management and counseling families as to expectations regarding seizure remission. © 2017 Wiley Periodicals, Inc.

  17. Patient with confirmed LEOPARD syndrome developing multiple melanoma.

    Science.gov (United States)

    Colmant, Caroline; Franck, Deborah; Marot, Liliane; Matthijs, Gert; Sznajer, Yves; Blomme, Sandrine; Tromme, Isabelle

    2018-01-01

    LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D). This condition is identified in 85% of patients with phenotype hallmarks caused by presence a germline point mutation in PTPN11 gene. Association of melanoma to NSML seems to be rare: to our knowledge, two patients so far were reported in the literature. We herein present a patient diagnosed with LEOPARD syndrome, in whom molecular investigation confirmed the presence of the c.1403C>T mutation in exon 12 of the PTPN11 gene, who developed four superficial spreading melanomas and three atypical lentiginous hyperplasias. Three of the melanomas were achromic or hypochromic, three were in situ, and one had a Breslow index under 0.5 mm. Dermoscopic examination showed some characteristic white structures in most of the lesions, which were a signature pattern and a key for the diagnosis.

  18. Myxedema coma in a patient with Down's syndrome.

    Science.gov (United States)

    Bansal, Darpan; Nanda, Ashish; Gupta, Ekta; Croker, Mary; Williams, Misty L; Bacchus, Amy; Simmons, Debra; Erbland, Marcia

    2006-11-01

    hyroid dysfunction is common in Down's syndrome, most common being hypothyroidism. Longstanding, untreated hypothyroidism can lead to myxedema coma. Here we report a patient with Down's syndrome who presented with myxedema coma. The three essential elements for the diagnosis of myxedema coma include altered mental status, defective thermoregulation and a precipitating event or illness; all of these were present in our patient. Also, very high TSH, low T3 and T4, and the rapid response to the treatment with levothyroxine confirmed the diagnosis. Patients with Down's syndrome should have regular screening for thyroid dysfunction.

  19. COCHLEAR IMPLANTATION IN A PATIENT WITH USHER'S SYNDROME

    OpenAIRE

    Derinsu, Ufuk; Ciprut, Ayca

    2016-01-01

    Usher's Syndrome is an autosomal recessive disorder characterized by congenital hearing loss and retinitis pigmentosa. Usher’s Syndrome patients with severe to profound sensorineural hearing loss can be considered as candidates for cochlear implantation.This case study reports a deaf-blind with Usher's Syndrome who received a cochlear implant, the audiological evaluation is presented and the therapy sessions are discussed. The patient demonstrated good performance overtime after the...

  20. Short bowel syndrome presenting with re-feeding syndrome in a Han Chinese patient: a case report

    Directory of Open Access Journals (Sweden)

    Xie Ying

    2012-05-01

    Full Text Available Abstract Introduction Re-feeding syndrome is common in patients with long-term starvation. To the best of our knowledge this case is the first to report a patient with short bowel syndrome developing re-feeding syndrome 12 years after the bowel resection. Case presentation A 33-year-old Chinese Han man underwent small bowel resection leaving only 40 cm of bowel, without an ileocecal valve, 12 years previously. At that time he was weaned from total parenteral nutrition and had a normal diet. He later developed features of severe malnutrition, and when parenteral nutrition was given, he developed re-feeding syndrome. Conclusion Although re-feeding syndrome is a common complication in patients with any kind of nutritional support, and known to us for many years, high risk patients still need more attention and monitoring. Re-feeding syndrome in this case was not only a macronutrients deficiency but also a micronutrient deficient, and prompt supplement therapy and organ function support proved to be successful.

  1. Prevalence of dry eye syndrome and Sjogren's syndrome in patients with rheumatoid arthritis.

    Science.gov (United States)

    Kosrirukvongs, Panida; Ngowyutagon, Panotsom; Pusuwan, Pawana; Koolvisoot, Ajchara; Nilganuwong, Surasak

    2012-04-01

    Rheumatoid arthritis has manifestations in various organs including ophthalmic involvement. The present study evaluates prevalence of dry eye and secondary Sjogren's syndrome using salivary scintigraphy which has not been used in previous reports. To evaluate the prevalence of secondary Sjogren's syndrome in patients with rheumatoid arthritis, including clinical characteristics and dry eye, compared with non-Sjogren's syndrome. Descriptive cross sectional study Sixty-one patients with rheumatoid arthritis were recruited at Siriraj Hospital during March 2009-September 2010 and filled in the questionnaires about dry eye for Ocular Surface Disease Index (OSDI) with a history taking of associated diseases, medications, duration of symptoms of dry eyes and dry mouth. The Schirmer I test without anesthesia, tear break-up time, rose bengal staining score, severity of keratitis and salivary scintigraphy were measured and analyzed. Prevalence of secondary Sjogren's syndrome and dry eye were 22.2% (95% CI 15.4 to 30.9) and 46.7% (95% CI 38.0 to 55.6), respectively. Dry eye interpreted from OSDI, Schirmer 1 test, tear break-up time and rose bengal staining was 16.4%, 46.7%, 82% and 3.3% respectively. Fifty-two percent of patients had a history of dry eye and dry mouth with mean duration 27.4 and 29.8 months, respectively. Superficial punctate keratitis and abnormal salivary scintigraphy were found in 58.2% and 77.8%. Duration of rheumatoid arthritis, erythrocyte sedimentation rate were not correlated with secondary Sjogren's syndrome. Dry eye from OSDI with secondary Sjogren's syndrome (33.3%) compared with non-Sjogren's syndrome (9.5%) was significant difference (p = 0.008). Adjusted odds ratio for secondary Sjogren's syndrome in OSDIL score > 25 was 13.8 (95% CI 2.6 to 73.8, p = 0.002) compared to OSDI score dry eye syndrome and secondary Sjogren's syndrome in rheumatoid arthritis was crucial for evaluation of their severity and proper management.

  2. Undergraduate Planet Hunters: Tools and Results

    Science.gov (United States)

    Buzasi, Derek L.; Carboneau, Lindsey; Ferrell, Laura; Green, Gilbert; Kaiser, Maya; Kreke, Kira; Lundy, Samantha; Merritt, William; Passino, Matlin; Paxton, Harrison; Podaril, Alexandria; Stansfield, Alexis

    2018-06-01

    One student "Honors Experience" option at Florida Gulf Coast University is a research experience, and we have developed a "Planet Hunters" course to provide an astronomical research track that satisfies that requirement. Students spend the first semester learning astronomical background and exoplanet detection techniques, while the second semester is primarily devoted to planet searches in K2 data using student-oriented software tools developed specifically for the task. In this poster, we illustrate those tools and show results obtained by class participants during this years experience.

  3. Brugada Syndrome in a Patient with Vascular Ehlers-Danlos Syndrome: Sudden Death Risk Amplified.

    Science.gov (United States)

    D'Souza, Jason; Malhotra, Divyanshu; Goud, Aditya; Dahagam, Chanukya; Everett, George

    2017-04-19

    The vast majority of sudden cardiac arrests occur in patients with structural heart disease and in approximately 10% of the cases, it can occur in those with structurally normal hearts. Brugada syndrome is an autosomal dominant sodium channelopathy that has been implicated in sudden deaths. Given their low prevalence, our knowledge about Brugada syndrome is still evolving. Apart from schizophrenia, there have been no reports of associated medical conditions. We recently encountered a patient with vascular Ehlers-Danlos syndrome who was also found to have Brugada syndrome. Both these conditions share some common clinical presentations including a propensity for sudden death.

  4. Metabolic syndrome in asthmatic patients of hazara division

    International Nuclear Information System (INIS)

    Ahmed, N.; Kazim, S.M.; Gillani, S.Y.

    2017-01-01

    Bronchial asthma is a common disease and most asthmatics are obese. Both asthma and obesity are showing parallel trends in their increasing prevalence. Obesity is also the main component of metabolic syndrome and several studies have shown metabolic syndrome to be associated with bronchial asthma. The present study was, therefore, designed to determine the frequency of metabolic syndrome among patients with chronic asthma in our setup. Methods: This cross-sectional study was conducted in Department of Medicine, Ayub Teaching Hospital, Abbottabad from May to November, 2014. One hundred and fifty-four asthmatic patients were enrolled in this study. Samples for blood glucose, triglycerides and HDL Cholesterol were taken after an overnight fast. Sitting blood pressure was measured with mercury sphygmomanometer after 10 minutes of rest. Waist circumference was measured at the level of the midpoint between the high point of the iliac crest and the last rib. Results: Out of 154 patients, 80 were males and 74 were females. Metabolic syndrome was diagnosed in 46 (29.87 percent) patients. When metabolic syndrome was stratified according to age, sex and duration of asthma, the results were found to be insignificant (p-0.89, 0.30 and 0.85). Conclusion: This study showed that metabolic syndrome was present in almost one third of study population. (author)

  5. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient

    Directory of Open Access Journals (Sweden)

    Pedro Morgado

    2015-01-01

    Full Text Available Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient’s symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

  6. Physiotherapy improves patient reported shoulder function and health status in patients with subacromial impingement syndrome

    DEFF Research Database (Denmark)

    Storgaard, Filip Holst; Pedersen, Christina Gravgaard; Jensen, Majbritt Lykke

    Physiotherapy improves patient reported shoulder function and health status in patients with subacromial impingement syndrome.......Physiotherapy improves patient reported shoulder function and health status in patients with subacromial impingement syndrome....

  7. Cochlear hearing loss in patients with Laron syndrome.

    Science.gov (United States)

    Attias, Joseph; Zarchi, Omer; Nageris, Ben I; Laron, Zvi

    2012-02-01

    The aim of this prospective clinical study was to test auditory function in patients with Laron syndrome, either untreated or treated with insulin-like growth factor I (IGF-I). The study group consisted of 11 patients with Laron syndrome: 5 untreated adults, 5 children and young adults treated with replacement IGF-I starting at bone age Laron syndrome and may be prevented by starting treatment with IGF-I at an early developmental age.

  8. Hearing impairment in genotyped Wolfram syndrome patients.

    Science.gov (United States)

    Plantinga, Rutger F; Pennings, Ronald J E; Huygen, Patrick L M; Bruno, Rocco; Eller, Philipp; Barrett, Timothy G; Vialettes, Bernard; Paquis-Fluklinger, Veronique; Lombardo, Fortunato; Cremers, Cor W R J

    2008-07-01

    Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment. Pure tone threshold data of 23 Wolfram syndrome patients were used for cross-sectional analysis in subgroups (age less than 16 years or between 19 and 25 years, gender, and origin). All subgroups, with 1 exception, showed a fairly similar type of hearing impairment with, on average, thresholds of about 25 dB (range, 0 to 65 dB) at 0.25 to 1 kHz, gently sloping downward to about 60 dB (range, 25 to 95 dB) at 8 kHz. The subgroup of Dutch women, which was excluded from the calculations of the average hearing thresholds, showed a higher degree of hearing impairment. Only the latter subgroup showed progression; however, contrary to the previous longitudinal analysis, progression was not significant in the present cross-sectional analysis, presumably because of the high degree of cross-subject variability. This unique collection of audiometric data from genotyped Wolfram syndrome patients shows no substantial progression in sensorineural hearing impairment with advancing age, no relation to the types of WFS1 mutations identified, and, with exclusion of the subgroup of Dutch female patients, no significant sex-related differences.

  9. Altered gastric emptying in patients with irritable bowel syndrome

    International Nuclear Information System (INIS)

    Caballero-Plasencia, A.M.; Valenzuela-Barranco, M.; Herrerias-Gutierrez, J.M.; Esteban-Carretero, J.M.

    1999-01-01

    Irritable bowel syndrome is the most frequent functional disorder of the digestive system. Patients with irritable bowel syndrome have motor disorders not only in the colon, but also in other parts of the digestive tract such as the oesophagus and small intestine; however, it is not known whether the stomach is also involved. We used a radiolabelled mixed solid-liquid meal (technetium-99m for the solid component, indium-111 for the liquid component) to study gastric emptying of solids (GES), liquids (GEL) and indigestible solids (GER) in 50 patients diagnosed as having irritable bowel syndrome (30 with predominant constipation and 20 with predominant diarrhoea). GER was measured by counting the number of indigestible solids remaining in the stomach 4 h after they were swallowed. In patients with irritable bowel syndrome, GES and GEL were slower than in control subjects (P<0.05). GER was normal in all patients except for two women. Thirty-two patients (64%) showed delayed GES, 29 (58%) delayed GEL, and 2 (4%) delayed GER. Among patients with irritable bowel syndrome, GES was slower in those with predominant constipation than in those with predominant diarrhoea (P<0.05); GEL and GER were similar in both groups. Gastroparesis was found in a large proportion of patients with irritable bowel syndrome, suggesting the presence of a more generalised motor disorder of the gut. (orig.)

  10. Treatment of orofacial pain in patients with stylomandibular ligament syndrome (Ernest Syndrome).

    Science.gov (United States)

    Peñarrocha-Oltra, D; Ata-Ali, J; Ata-Ali, F; Peñarrocha-Diago, M A; Peñarrocha, M

    2013-06-01

    Ernest syndrome involves the stylomandibular ligament. It is characterised by pain in the preauricular area and mandibular angle, radiating to the neck, shoulder, and eye on the same side, and associated with pain during palpation of that ligament. The purpose of this study is to describe the clinical characteristics, treatment, and course of the disease in a series of patients with Ernest syndrome. Retrospective observational study covering the period from 1998 to 2008. We recorded patients' age, sex, duration of the disorder, and pain characteristics. All patients were injected with 40mg triamcinolone acetonide at the mandibular insertion of the stylomandibular ligament. The study included a total of 6 patients. Mean age was 40.3 years (range, 35-51). All of the subjects were women. Four patients had undergone lengthy dental treatments in the month prior to onset of the pain. The mean time between pain onset and first consultation was 23 months. The syndrome resolved completely in all cases after treatment, with a minimum follow-up period of 12 months. We analysed the clinical characteristics, treatment, and course of disease in 6 patients with Ernest syndrome. Correct diagnosis is the key to being able to provide proper treatment. This disorder is sometimes confused with other types of orofacial pain, and may therefore be more prevalent than the literature would indicate. Copyright © 2012 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  11. Waardenburg syndrome in four Mexican patients.

    Science.gov (United States)

    Aguilar Caso, Sandra I; Ortiz Nieva, Gabriela

    2009-01-01

    Waardenburg syndrome is a hereditary auditory-pigmentary syndrome. The major features include pigmentary disturbances and congenital deafness. Clinical findings are extremely variable, not only at the authors' institution but also in the literature. The authors describe four patients who presented with various clinical features and different genetic pedigree penetration.

  12. Cardiac findings in 31 patients with Noonan's syndrome

    Directory of Open Access Journals (Sweden)

    Bertola Débora Romeo

    2000-01-01

    Full Text Available OBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS: Thirty-one (18 males and 13 femalespatients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and echodopplercardiography. RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myocardiopathy, commonly associated with valve defects. Upper deviation of the QRS axis was observed in 80% of these patients. CONCLUSION: In view of the high frequency and diversity of cardiac abnormalities present in Noonan syndrome, cardiac evaluation with electrocardiography and echocardiography should be performed in all patients diagnostically suspected of having this disease.

  13. [Psychiatric disturbances in five patients with MELAS syndrome].

    Science.gov (United States)

    Magner, Martin; Honzik, Tomas; Tesarova, Marketa; Dvorakova, Veronika; Hansiková, Hana; Raboch, Jiři; Zeman, Jiři

    2014-01-01

    Mitochondrial disorders of energetic metabolism (MD) represent a heterogeneous group of diseases manifesting at any age with a broad spectrum of clinical symptoms, including psychiatric disorders. The aim of the study was to characterize psychiatric symptoms and diagnoses in five patients with MELAS syndrome between the ages of 17 and 53 years. Four of MELAS patients them harbored the prevalent mitochondrial DNA (mtDNA) mutation 3243A>G, and one patient had the mtDNA mutation 12706T>C. Three patients had positive family histories for MELAS syndrome. In one patient, depression was diagnosedas the first symptom ofMELAS syndrome. Depression also preceded a stroke-like episode in one patient. Four patients had disturbed cognitive functions, confusional states occurred in three patients. One patient manifested psychotic (schizophrenia-like) symptoms. Mitochondrial disorders deserve consideration as part of the differential diagnosis, especially, if there is suspected involvement of other organ groups or positive family history of MD.

  14. Serial Manifestation of Acute Kidney Injury and Nephrotic Syndrome in a Patient with TAFRO syndrome.

    Science.gov (United States)

    Ito, Seigo; Uchida, Takahiro; Itai, Hiroki; Yamashiro, Aoi; Yamagata, Akira; Matsubara, Hidehito; Imakiire, Toshihiko; Shimazaki, Hideyuki; Kumagai, Hiroo; Oshima, Naoki

    2018-06-06

    A 76-year-old woman suddenly developed anasarca and a fever, and an examination revealed thrombocytopenia, reticulin fibrosis, and acute kidney injury, yielding the diagnosis of TAFRO syndrome. Renal replacement therapy and steroid treatment were soon started. Her proteinuria was minor at first; however, once the kidney function improved, nephrotic syndrome occurred. A kidney biopsy showed membranoproliferative glomerulonephritis-like glomerulopathy with massive macrophage infiltration. Although kidney dysfunction is often observed in TAFRO syndrome patients, its detailed mechanism is unclear. This case suggests that TAFRO syndrome involves both acute kidney injury with minor proteinuria and nephrotic syndrome, and these disorders can develop serially in the same patient.

  15. Targeting hunter distribution based on host resource selection and kill sites to manage disease risk

    DEFF Research Database (Denmark)

    Dugal, Cherie; van Beest, Floris; Vander Wal, Eric

    2013-01-01

    Endemic and emerging diseases are rarely uniform in their spatial distribution or prevalence among cohorts of wildlife. Spatial models that quantify risk-driven differences in resource selection and hunter mortality of animals at fine spatial scales can assist disease management by identifying high-risk...... areas and individuals. We used resource selection functions (RSFs) and selection ratios (SRs) to quantify sex- and age-specific resource selection patterns of collared (n = 67) and hunter-killed (n = 796) nonmigratory elk (Cervus canadensis manitobensis) during the hunting season between 2002 and 2012...... juvenile males and hunter-killed adult females. In instances where disease infects a metapopulation and eradication is infeasible, a principle goal of management is to limit the spread of disease among infected animals. We map high-risk areas that are regularly used by potentially infectious hosts...

  16. [Anesthetic management of four patients with Fournier syndrome].

    Science.gov (United States)

    Sato, Rui; Tomioka, Toshiya; Orii, Ryo; Yamada, Yoshitsugu

    2008-03-01

    We experienced anesthetic managements of four patients with Fournier syndrome. In the anesthetic management of the patients with Fournier syndrome the following three points should be kept in mind; (a) the necessity of careful preoperative examination, (b) the better anesthesia, and (c) the careful postoperative care.

  17. Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients

    DEFF Research Database (Denmark)

    Nielsen, Rie Harboe; Couppé, Christian; Jensen, Jacob Kildevang

    2014-01-01

    There is a clinical overlap between classic Ehlers-Danlos syndrome (cEDS) and benign joint hypermobility syndrome (BJHS), with hypermobility as the main symptom. The purpose of this study was to investigate the role of type V collagen mutations and tendon pathology in these 2 syndromes. In patients...... and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients....

  18. PMS2 involvement in patients suspected of Lynch syndrome.

    Science.gov (United States)

    Niessen, Renée C; Kleibeuker, Jan H; Westers, Helga; Jager, Paul O J; Rozeveld, Dennie; Bos, Krista K; Boersma-van Ek, Wytske; Hollema, Harry; Sijmons, Rolf H; Hofstra, Robert M W

    2009-04-01

    It is well-established that germline mutations in the mismatch repair genes MLH1, MSH2, and MSH6 cause Lynch syndrome. However, mutations in these three genes do not account for all Lynch syndrome (suspected) families. Recently, it was shown that germline mutations in another mismatch repair gene, PMS2, play a far more important role in Lynch syndrome than initially thought. To explore this further, we determined the prevalence of pathogenic germline PMS2 mutations in a series of Lynch syndrome-suspected patients. Ninety-seven patients who had early-onset microsatellite instable colorectal or endometrial cancer, or multiple Lynch syndrome-associated tumors and/or were from an Amsterdam Criteria II-positive family were selected for this study. These patients carried no pathogenic germline mutation in MLH1, MSH2, or MSH6. When available, tumors were investigated for immunohistochemical staining (IHC) for PMS2. PMS2 was screened in all patients by exon-by-exon sequencing. We identified four patients with a pathogenic PMS2 mutation (4%) among the 97 patients we selected. IHC of PMS2 was informative in one of the mutation carriers, and in this case, the tumor showed loss of PMS2 expression. In conclusion, our study confirms the finding of previous studies that PMS2 is more frequently involved in Lynch syndrome than originally expected.

  19. Prevention of infectious diseases in patients with Good syndrome.

    Science.gov (United States)

    Multani, Ashrit; Gomez, Carlos A; Montoya, José G

    2018-08-01

    Good syndrome is a profoundly immunocompromising condition with heterogeneous immune deficits characterized by the presence of thymoma, low-to-absent B-lymphocyte counts, hypogammaglobulinemia, and impaired cell-mediated immunity. Opportunistic infectious diseases associated with Good syndrome represent a diagnostic and therapeutic challenge, given their protean clinical manifestations. Although these infectious complications have been reviewed in prior publications, recommendations regarding their prevention have been lacking. Good syndrome usually occurs in adult patients between the ages of 40 and 70 years. Immunologically, it is characterized by low or absent peripheral blood B lymphocytes, hypogammaglobulinemia, and variable defects in cell-mediated immunity including low CD4 T counts, inverted CD4:CD8 T-lymphocyte ratio, and reduced T-lymphocyte mitogen proliferative responses. Patients with Good syndrome are susceptible to a variety of infectious diseases, of which the most common are recurrent bacterial sinopulmonary infections, mucocutaneous candidiasis, and CMV tissue-invasive disease. Preventive guidelines including targeted antimicrobial prophylaxis and vaccination strategies can mitigate infectious complications in patients with Good syndrome. Immunological deficits and infectious complications in Good syndrome have been described for over 60 years. Further research is needed to elucidate its exact pathogenesis and define the mechanistic relationship between thymoma and hypogammaglobulinemia. However, tailored prophylactic strategies can be recommended for patients with Good syndrome.

  20. Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy

    DEFF Research Database (Denmark)

    Lee, Peter A; Ross, Judith L; Pedersen, Birgitte Tønnes

    2015-01-01

    BACKGROUND: Turner syndrome (TS) and Noonan syndrome (NS) are distinct syndromes associated with short stature and other similar phenotypic features. We compared the responses to growth hormone (GH) therapy of TS and NS patients enrolled in the NordiNet® International Outcome Study (IOS...

  1. Altered gastric emptying in patients with irritable bowel syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Caballero-Plasencia, A.M.; Valenzuela-Barranco, M. [Department of Medicine, School of Medicine, University of Granada (Spain); Herrerias-Gutierrez, J.M. [Division of Gastroenterology, University Hospital ``Virgen de la Macarena``, Sevilla (Spain); Esteban-Carretero, J.M. [Central Service of Investigation in Health Sciences, University of Cadiz, Cadiz (Spain)

    1999-04-29

    Irritable bowel syndrome is the most frequent functional disorder of the digestive system. Patients with irritable bowel syndrome have motor disorders not only in the colon, but also in other parts of the digestive tract such as the oesophagus and small intestine; however, it is not known whether the stomach is also involved. We used a radiolabelled mixed solid-liquid meal (technetium-99m for the solid component, indium-111 for the liquid component) to study gastric emptying of solids (GES), liquids (GEL) and indigestible solids (GER) in 50 patients diagnosed as having irritable bowel syndrome (30 with predominant constipation and 20 with predominant diarrhoea). GER was measured by counting the number of indigestible solids remaining in the stomach 4 h after they were swallowed. In patients with irritable bowel syndrome, GES and GEL were slower than in control subjects (P<0.05). GER was normal in all patients except for two women. Thirty-two patients (64%) showed delayed GES, 29 (58%) delayed GEL, and 2 (4%) delayed GER. Among patients with irritable bowel syndrome, GES was slower in those with predominant constipation than in those with predominant diarrhoea (P<0.05); GEL and GER were similar in both groups. Gastroparesis was found in a large proportion of patients with irritable bowel syndrome, suggesting the presence of a more generalised motor disorder of the gut. (orig.) With 1 fig., 3 tabs., 48 refs.

  2. Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

    Science.gov (United States)

    Neumann, Thomas E; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O; Kehl, Hans Gerd; Albrecht, Beate; Luczak, Klaudiusz; Sasiadek, Maria M; Musante, Luciana; Laurie, Rohan; Peters, Hartmut; Tartaglia, Marco; Zenker, Martin; Kalscheuer, Vera

    2009-01-01

    Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by mutations in BRAF, MEK1, MEK2, or KRAS. The NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw (Noonan-like/MGCL syndrome (NL/MGCLS)). PTPN11 mutations are the only genetic abnormalities reported so far in some patients with NL/MGCLS and in one individual with LEOPARD syndrome and MGCL. In a cohort of 75 NS patients previously tested negative for mutations in PTPN11 and KRAS, we detected SOS1 mutations in 11 individuals, four of whom had MGCL. To explore further the relevance of aberrant RAS-MAPK signaling in syndromic MGCL, we analyzed the established genes causing CFCS in three subjects with MGCL associated with a phenotype fitting CFCS. Mutations in BRAF or MEK1 were identified in these patients. All mutations detected in these seven patients with syndromic MGCL had previously been described in NS or CFCS without apparent MGCL. This study demonstrates that MGCL may occur in NS and CFCS with various underlying genetic alterations and no obvious genotype–phenotype correlation. This suggests that dysregulation of the RAS-MAPK pathway represents the common and basic molecular event predisposing to giant cell lesion formation in patients with NS and CFCS rather than specific mutation effects. PMID:18854871

  3. Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

    Science.gov (United States)

    Neumann, Thomas E; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O; Kehl, Hans Gerd; Albrecht, Beate; Luczak, Klaudiusz; Sasiadek, Maria M; Musante, Luciana; Laurie, Rohan; Peters, Hartmut; Tartaglia, Marco; Zenker, Martin; Kalscheuer, Vera

    2009-04-01

    Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by mutations in BRAF, MEK1, MEK2, or KRAS. The NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw (Noonan-like/MGCL syndrome (NL/MGCLS)). PTPN11 mutations are the only genetic abnormalities reported so far in some patients with NL/MGCLS and in one individual with LEOPARD syndrome and MGCL. In a cohort of 75 NS patients previously tested negative for mutations in PTPN11 and KRAS, we detected SOS1 mutations in 11 individuals, four of whom had MGCL. To explore further the relevance of aberrant RAS-MAPK signaling in syndromic MGCL, we analyzed the established genes causing CFCS in three subjects with MGCL associated with a phenotype fitting CFCS. Mutations in BRAF or MEK1 were identified in these patients. All mutations detected in these seven patients with syndromic MGCL had previously been described in NS or CFCS without apparent MGCL. This study demonstrates that MGCL may occur in NS and CFCS with various underlying genetic alterations and no obvious genotype-phenotype correlation. This suggests that dysregulation of the RAS-MAPK pathway represents the common and basic molecular event predisposing to giant cell lesion formation in patients with NS and CFCS rather than specific mutation effects.

  4. Aortic dissection in patients with Marfan syndrome based on the IRAD data.

    Science.gov (United States)

    de Beaufort, Hector W L; Trimarchi, Santi; Korach, Amit; Di Eusanio, Marco; Gilon, Dan; Montgomery, Daniel G; Evangelista, Arturo; Braverman, Alan C; Chen, Edward P; Isselbacher, Eric M; Gleason, Thomas G; De Vincentiis, Carlo; Sundt, Thoralf M; Patel, Himanshu J; Eagle, Kim A

    2017-11-01

    Between January 1996 and May 2017, the International Registry on Acute Aortic Dissections has collected information on a total of 6,424 consecutive patients with acute aortic dissection, including 258 individuals with a diagnosis of Marfan syndrome. Patients with Marfan syndrome presented at a significantly younger age compared to patients without Marfan syndrome (38.2±13.2 vs . 63.0±14.0 years; PMarfan syndrome cohort, but no larger diameters more distally. The in-hospital mortality in type A dissection was not significantly different in patients with or without Marfan syndrome, despite the differences in age and comorbidities and the lower incidence of aortic rupture in the Marfan syndrome cohort. In contrast, the in-hospital mortality of Marfan syndrome patients with type B dissection appears to be lower than that of patients without Marfan syndrome. The Marfan syndrome cohort that was treated with open surgery for type B dissection seemed to do especially well, with a 0% mortality rate (n=27). Follow-up data for type A and B dissections combined show an estimated five-year survival rate of 80.1% and an estimated reintervention rate of 55.3% in patients with Marfan syndrome. Such a high rate of reinterventions highlights the need for careful surveillance and treatment for patients with Marfan syndrome surviving the acute phase of aortic dissection.

  5. Medicinal and ethnoveterinary remedies of hunters in Trinidad

    Directory of Open Access Journals (Sweden)

    Georges Karla

    2001-11-01

    Full Text Available Abstract Background Ethnomedicines are used by hunters for themselves and their hunting dogs in Trinidad. Plants are used for snakebites, scorpion stings, for injuries and mange of dogs and to facilitate hunting success. Results Plants used include Piper hispidum, Pithecelobium unguis-cati, Bauhinia excisa, Bauhinia cumanensis, Cecropia peltata, Aframomum melegueta, Aristolochia rugosa, Aristolochia trilobata, Jatropha curcas, Jatropha gossypifolia, Nicotiana tabacum, Vernonia scorpioides, Petiveria alliacea, Renealmia alpinia, Justicia secunda, Phyllanthus urinaria,Phyllanthus niruri,Momordica charantia, Xiphidium caeruleum, Ottonia ovata, Lepianthes peltata, Capsicum frutescens, Costus scaber, Dendropanax arboreus, Siparuma guianensis, Syngonium podophyllum, Monstera dubia, Solanum species, Eclipta prostrata, Spiranthes acaulis, Croton gossypifolius, Barleria lupulina, Cola nitida, Acrocomia ierensis (tentative ID. Conclusion Plant use is based on odour, and plant morphological characteristics and is embedded in a complex cultural context based on indigenous Amerindian beliefs. It is suggested that the medicinal plants exerted a physiological action on the hunter or his dog. Some of the plants mentioned contain chemicals that may explain the ethnomedicinal and ethnoveterinary use. For instance some of the plants influence the immune system or are effective against internal and external parasites. Plant baths may contribute to the health and well being of the hunting dogs.

  6. Medicinal and ethnoveterinary remedies of hunters in Trinidad.

    Science.gov (United States)

    Lans, C; Harper, T; Georges, K; Bridgewater, E

    2001-01-01

    Ethnomedicines are used by hunters for themselves and their hunting dogs in Trinidad. Plants are used for snakebites, scorpion stings, for injuries and mange of dogs and to facilitate hunting success. Plants used include Piper hispidum, Pithecelobium unguis-cati, Bauhinia excisa, Bauhinia cumanensis, Cecropia peltata, Aframomum melegueta, Aristolochia rugosa, Aristolochia trilobata, Jatropha curcas, Jatropha gossypifolia, Nicotiana tabacum, Vernonia scorpioides, Petiveria alliacea, Renealmia alpinia, Justicia secunda, Phyllanthus urinaria,Phyllanthus niruri,Momordica charantia, Xiphidium caeruleum, Ottonia ovata, Lepianthes peltata, Capsicum frutescens, Costus scaber, Dendropanax arboreus, Siparuma guianensis, Syngonium podophyllum, Monstera dubia, Solanum species, Eclipta prostrata, Spiranthes acaulis, Croton gossypifolius, Barleria lupulina, Cola nitida, Acrocomia ierensis (tentative ID). Plant use is based on odour, and plant morphological characteristics and is embedded in a complex cultural context based on indigenous Amerindian beliefs. It is suggested that the medicinal plants exerted a physiological action on the hunter or his dog. Some of the plants mentioned contain chemicals that may explain the ethnomedicinal and ethnoveterinary use. For instance some of the plants influence the immune system or are effective against internal and external parasites. Plant baths may contribute to the health and well being of the hunting dogs.

  7. Intergroup aggression in chimpanzees and war in nomadic hunter-gatherers: evaluating the chimpanzee model.

    Science.gov (United States)

    Wrangham, Richard W; Glowacki, Luke

    2012-03-01

    Chimpanzee and hunter-gatherer intergroup aggression differ in important ways, including humans having the ability to form peaceful relationships and alliances among groups. This paper nevertheless evaluates the hypothesis that intergroup aggression evolved according to the same functional principles in the two species-selection favoring a tendency to kill members of neighboring groups when killing could be carried out safely. According to this idea chimpanzees and humans are equally risk-averse when fighting. When self-sacrificial war practices are found in humans, therefore, they result from cultural systems of reward, punishment, and coercion rather than evolved adaptations to greater risk-taking. To test this "chimpanzee model," we review intergroup fighting in chimpanzees and nomadic hunter-gatherers living with other nomadic hunter-gatherers as neighbors. Whether humans have evolved specific psychological adaptations for war is unknown, but current evidence suggests that the chimpanzee model is an appropriate starting point for analyzing the biological and cultural evolution of warfare.

  8. Estimating the mercury exposure dose in a population of migratory bird hunters in the St. Lawrence River region, Quebec, Canada

    International Nuclear Information System (INIS)

    Duchesne, J.-F.; Levesque, B.; Gauvin, Denis; Braune, Birgit; Gingras, Suzanne; Dewailly, E.

    2004-01-01

    St. Lawrence River hunters (Quebec, Canada) are exposed to the pollutants, especially mercury, that contaminate birds and fish. However, the health risks of this have remained unclear because of a lack of information about the hunters' duck, geese, and sportfish consumption habits. A nutritional survey was set up to characterize waterfowl and sportfish consumption in St. Lawrence River duck hunters and to estimate their daily exposure to mercury. During the winter of 2000, 512 hunters selected from the Canadian Wildlife Service database completed a self-administered questionnaire. Daily exposure to contaminants was measured using data from the Canadian Wildlife Service (waterfowl) and available data on St. Lawrence River sportfish. The annual average consumption was 7.5 meals of ducks and geese and 8.7 meals of sportfish. The daily exposure to mercury related to waterfowl consumption was below the Canadian tolerable daily intake (TDI) of 0.47 μg/kg body wt/day for all participants. The daily mercury intake associated with fish consumption was greater than the TDI in 2 duck hunters. The daily exposure to mercury was higher than the TDI in 4 participants when both waterfowl and fish consumption were combined. Our results suggest that fish consumption (especially freshwater fish) represents the main source of exposure to pollutants in duck hunters

  9. Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

    Directory of Open Access Journals (Sweden)

    Frédéric Vély

    2018-05-01

    Full Text Available The syndromic diarrhea/trichohepatoenteric syndrome (SD/THE is a rare and multi-system genetic disorder caused by mutation in SKIV2L or in TTC37, two genes encoding subunits of the putative human SKI complex involved in RNA degradation. The main features are intractable diarrhea of infancy, hair abnormalities, facial dysmorphism, and intrauterine growth restriction. Immunologically this syndrome is associated with a hypogammaglobulinemia leading to an immunoglobulin supplementation. Our immune evaluation of a large French cohort of SD/THE patient revealed several immunological defects. First, switched memory B lymphocytes count is very low. Second, IFN-γ production by T and NK cells is impaired and associated with a reduced degranulation of NK cells. Third, T cell proliferation was abnormal in 3/6 TTC37-mutated patients. These three patients present with severe EBV infection and a transient hemophagocytosis which may be related to these immunological defects. Moreover, an immunological screening of patients with clinical features of SD/THE could facilitate both diagnosis and therapeutic management of these patients.

  10. [Pulmonary reperfusion syndrome after pulmonary stent implants in a patient with vascular tortuosity syndrome].

    Science.gov (United States)

    Berenguer Potenciano, M; Piris Borregas, S; Mendoza Soto, A; Velasco Bayon, J M; Caro Barri, A

    2015-01-01

    Vascular tortuosity syndrome is a rare genetic disorder that causes tortuosity and stenosis of the pulmonary, systemic and / or coronary circulations. As a result of treatment of pulmonary stenosis, symptoms of pulmonary edema, known as lung reperfusion syndrome, may occur. The case is presented of an adolescent patient with vascular tortuosity syndrome who presented with a pulmonary reperfusion syndrome after multiple stent implants in the left pulmonary artery. After the procedure, the patient immediately developed an acute pulmonary edema with severe clinical deterioration, which required assistance with extracorporeal membrane oxygenation for recovery. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  11. Lupus anticoagulant-hypoprothrombinemia syndrome and catastrophic antiphospholipid syndrome in a patient with antidomain I antibodies.

    Science.gov (United States)

    Galland, Joris; Mohamed, Shirine; Revuz, Sabine; de Maistre, Emmanuel; de Laat, Bas; Marie, Pierre-Yves; Zuily, Stéphane; Lévy, Bruno; Regnault, Véronique; Wahl, Denis

    2016-07-01

    Lupus anticoagulant-hypoprothrombinemia syndrome is a rare condition characterized by the association of acquired factor II deficiency and lupus anticoagulant. Contrary to classical antiphospholipid syndrome, it may cause severe life-threatening bleeding (89% of published cases). We report a patient, positive for antidomain I antibodies, with initially primary lupus anticoagulant-hypoprothrombinemia syndrome without previous clinical manifestation or underlying systemic disease. Five years later, he experienced the first systemic lupus erythematous flare. Within a few days, catastrophic antiphospholipid syndrome was diagnosed with heart, liver and kidney involvement. The patient recovered under pulse steroids, intravenous heparin and intravenous immunoglobulins.

  12. Baraitser–Winter syndrome: An additional Egyptian patient with ...

    African Journals Online (AJOL)

    We report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had bilateral colobomas of the iris and choroid. Our patient had also retinal hypoplasia, which was not reported previously in this syndrome, bilateral congenital ptosis, ...

  13. Unprovoked Pulmonary Embolism in a Young Patient with Marfan Syndrome.

    Science.gov (United States)

    Pak, Stella; Kilgore, Andrew; Thornhill, Rosanne; Rako, Kyle; Meier, Ali; Pora, Gavriella; Costello, Jillian M; Dee, Christine

    2017-09-05

    Marfan syndrome is a rare connective tissue disorder with a prevalence of approximately 2 to 3 per 10,000 individuals. There have been some reports of young patients with Marfan syndrome developing arteriovenous thromboembolism. These events were unprovoked and recurrent. Owing to its rarity, hypercoagulopathy and other metabolic derangement in patients with Marfan syndrome remains largely unknown. Herein, we report a case of a young man with Marfan syndrome who had myocardial infarction and pulmonary embolism. We hope that this case adds to the scant body of knowledge about this patient population.

  14. Culture-bound syndromes in Hispanic primary care patients.

    Science.gov (United States)

    Bayles, Bryan P; Katerndahl, David A

    2009-01-01

    We sought to document Hispanic primary care patients' knowledge and experience of five culture-bound syndromes (CBS), as well as the basic socio-cultural correlates of these disorders. A convenience sample of 100 adult Hispanic patients presenting in an urban South Texas primary care clinic was recruited to complete a brief cross-sectional survey, presented in an oral format. Interviews sought information concerning five culture-bound syndromes--susto, empacho, nervios, mal de ojo, and ataques de nervios. Additional demographic, socio-economic, and acculturation data was collected. Descriptive and bivariate statistics (chi square, Fisher's) were used to assess relationships among variables and experience with each CBS. A multivariate logistic analysis was conducted to determine the possible contributions of age, gender, acculturation, and education to the personal experience of a culture-bound syndrome. Results indicate that 77% of respondents had knowledge of all five syndromes, with 42% reporting having personally experienced at least one CBS. Nervios was the most commonly suffered disorder, being reported by 30 respondents. This was followed, in declining order ofprevalence, by susto, mal de ojo, empacho, and ataques de nervios. Multivariate logistic regression analysis found that higher education beyond high school was associated with a slightly decreased likelihood of reporting having suffered from any culture-bound syndrome. While co-occurrence among these disorders occurred, the patterns of predictors suggest that the co-occurrence is not a reflection of mislabeling of one common syndrome. Knowledge of and experience with culture-bound syndromes is common among Hispanic primary care patients in South Texas. Healthcare providers ought to consider discussing these illnesses in a non-judgmental manner with patients who present with symptoms that are consistent with these syndromes. Future studies, with larger sample sizes, are warranted to elucidate the nature

  15. Firewood, food and human niche construction: the potential role of Mesolithic hunter-gatherers in actively structuring Scotland's woodlands

    Science.gov (United States)

    Bishop, Rosie R.; Church, Mike J.; Rowley-Conwy, Peter A.

    2015-01-01

    Over the past few decades the potential role of Mesolithic hunter-gatherers in actively constructing their own niches, through the management of wild plants, has frequently been discussed. It is probable that Mesolithic hunter-gatherers systematically exploited specific woodland resources for food and fuel and influenced the 'natural' abundance or distribution of particular species within Mesolithic environments. Though there has been considerable discussion of the pollen evidence for potential small-scale human-woodland manipulation in Mesolithic Scotland, the archaeobotanical evidence for anthropogenic firewood and food selection has not been discussed in this context. This paper assesses the evidence for the active role of Mesolithic hunter-gatherer communities in systematically exploiting and managing woodlands for food and fuel in Scotland. While taphonomic factors may have impacted on the frequency of specific species in archaeobotanical assemblages, it is suggested that hunter-gatherers in Mesolithic Scotland were systematically using woodland plants, and in particular hazel and oak, for food and fuel. It is argued that the pollen evidence for woodland management is equivocal, but hints at the role of hunter-gatherers in shaping the structure of their environments, through the maintenance or creation of woodland clearings for settlement or as part of vegetation management strategies. It is proposed that Mesolithic hunter-gatherers may have actively contributed to niche construction and that the systematic use of hazel and oak as a fuel may reflect the deliberate pruning of hazel trees to increase nut-yields and the inadvertent - or perhaps deliberate - coppicing of hazel and oak during greenwood collection.

  16. Incompatibility between fasting and postprandial plasma glucose in patients with Cushing's syndrome.

    Science.gov (United States)

    Otsuki, Michio; Kitamura, Tetsuhiro; Tamada, Daisuke; Tabuchi, Yukiko; Mukai, Kosuke; Morita, Shinya; Kasayama, Soji; Shimomura, Iichiro; Koga, Masafumi

    2016-11-30

    It is shown that glucocorticoids have discordant effects on plasma glucose concentration through their effects on hepatic glycogen deposition, gluconeogenesis and peripheral insulin resistance. Cushing's syndrome caused by cortisol overproduction is frequently accompanied with diabetes mellitus, but fasting plasma glucose (FPG) and post-glucose load plasma glucose levels are not examined in patients with Cushing's syndrome. The aim of this study was to investigate FPG, HbA1c and oral glucose tolerance test (OGTT) 2-h PG and their relationship in patients with Cushing's syndrome, in comparison with control subjects. Sixteen patients with Cushing's syndrome (ACTH-dependent 31%, ACTH-independent 69% and diabetes mellitus 50%) and 64 controls (32 patients with type 2 diabetes mellitus and 32 non-diabetic subjects matched for age, sex and BMI) were enrolled in this study. HbA1c and FPG in the patients with Cushing's syndrome were not different from the controls, whereas the FPG/HbA1c ratio was significantly lower in the patients with Cushing's syndrome than the controls. OGTT 2-h PG was significantly higher in the non-diabetic patients with Cushing's syndrome than the non-diabetic controls, while HbA1c was not different between both groups and FPG was significantly lower in the patients with Cushing's syndrome than the controls. HOMA-β but not HOMA-R was significantly higher in the patients with Cushing's syndrome than the controls. In conclusion, FPG was rather lower in the patients with Cushing's syndrome than the controls. Postprandial PG or post-glucose loaded PG, but not FPG, is useful to evaluate the abnormality of glucose metabolism in patients with Cushing's syndrome.

  17. Association of metabolic syndrome in patients with osteoarthritis

    International Nuclear Information System (INIS)

    Malik, S.; Salim, B.; Khalil, Z.; Nasim, A.

    2015-01-01

    Objective: To determine association of osteoarthritis (OA) with metabolic syndrome in a tertiary care hospital of Pakistan. Methodology: A cross-sectional study was conducted at Fauji Foundation Hospital, Rawalpindi, Pakistan. Patients were randomly interviewed in the Female Rheumatology department and a total of 240 patients with single rheumatologic disease and age >35 years were selected. Informed consent was taken and patients were interviewed using a self-made questionnaire to evaluate their medical history, physical and laboratory examination. SPSS version 17 was used to analyze the data. Results: Out of 240 subjects, 81 patients had OA and another 81 patients were randomly selected from the age and gender matched control (non-OA) group. The mean age of patients in OA and non-OA group was 56.68 ± 09.76 and 53.57 ± 11.01 years, respectively. In OA group, 48.1% and in non-OA group 22.2% of patients were falling in category of being obese/morbidly obese. According to AHA criteria for Metabolic Syndrome, percentage of OA patients labeled to have metabolic syndrome was 58.8% as compared to 19.5% in non-OA group. Conclusion: There was a strong association of metabolic syndrome with OA and would surely make a foreground for future studies to be conducted on developing preventive strategies and ultimately reducing the morbidities and mortalities associated with Metabolic Osteoarthritis. (author)

  18. Decreased sweating in seven patients with Laron syndrome

    DEFF Research Database (Denmark)

    Main, K M; Price, D A; Savage, M O

    1993-01-01

    patients with Laron syndrome, measured by pilocarpine iontophoresis. The patients had significantly lower SSRs than healthy children matched for sex and pubertal stage (P ...). These observations further supported the hypothesis that sweat gland function in humans is under the influence of the GH-insulin-like growth factor-I axis. It remains to be seen whether the decrease in SSR also leads to altered thermoregulation in patients with Laron syndrome....

  19. Geriatric syndromes in patients with chronic kidney disease

    OpenAIRE

    Tomasz Gołębiowski; Hanna Augustyniak-Bartosik; Wacław Weyde; Marian Klinger

    2016-01-01

    The recent epidemiologic data pointed out, that the general number of patients on hemodialysis is steadily increasing, especially in group of elderly patients over 75 years old. The geriatric syndromes are a multietiological disorder related to physiological aging and partly associated with comorbid conditions. Frailty, falls, functional decline and disability, cognitive impairment and depression are main geriatric syndromes and occurs in patients with impaired renal function more often than ...

  20. Metabolic syndrome in patients with severe mental illness in Gorgan

    Science.gov (United States)

    Kamkar, Mohammad Zaman; Sanagoo, Akram; Zargarani, Fatemeh; Jouybari, Leila; Marjani, Abdoljalal

    2016-01-01

    Background: Metabolic syndrome is commonly associated with cardiovascular diseases and psychiatric mental illness. Hence, we aimed to assess the metabolic syndrome among severe mental illness (SMI). Materials and Methods: The study included 267 patients who were referred to the psychiatric unit at 5th Azar Education Hospital of Golestan University of Medical Sciences in Gorgan, Iran. Results: The mean waist circumference, systolic and diastolic blood pressure, triglyceride and fasting blood glucose levels were significantly higher in the SMI with metabolic syndrome, but the high density lipoprotein (HDL)-cholesterol was significantly lower. The prevalence of metabolic syndrome in SMI patients was 20.60%. There were significant differences in the mean of waist circumference, systolic (except for women) and diastolic blood pressure, triglyceride, HDL-cholesterol and fasting blood glucose in men and women with metabolic syndrome when compared with subjects without metabolic syndrome. The prevalence of metabolic syndrome in SMI women was higher than men. The most age distribution was in range of 30-39 years old. The most prevalence of metabolic syndrome was in age groups 50-59 years old. The prevalence of metabolic syndrome was increased from 30 to 59 years old. Conclusion: The prevalence of metabolic syndrome in patients with SMI in Gorgan is almost similar to those observed in Asian countries. The prevalence of metabolic syndrome was lower than western countries. These observations may be due to cultural differences in the region. It should be mention that the families of mental illness subjects in our country believe that their patients must be cared better than people without mental illness. These findings of this study suggest that mental illness patients are at risk of metabolic syndrome. According to our results, risk factors such as age and gender differences may play an important role in the presence of metabolic syndrome. In our country, women do less

  1. Fundación Book Hunters: Atrévete a experimentar con la lectura

    OpenAIRE

    Cruz Mejía, Fernanda

    2017-01-01

    La fundación Book Hunters es una organización sin ánimo de lucro que busca fortalecer la relación de la lectura en los niños desde temprana edad, involucrando a la comunidad y promoviendo el entendimiento del entorno que rodea hoy en día la infancia. El equipo considera que, para lograr los objetivos es necesario transformar el significado ha perseguido a la lectura durante años, es decir, para Book Hunters leer va más allá de tomar un libro e involucrarse en la historia, en cambio, el si...

  2. Investigation of Demodex folliculorum frequency in patients with polycystic ovary syndrome.

    Science.gov (United States)

    Eser, Ayla; Erpolat, Seval; Kaygusuz, Ikbal; Balci, Hatice; Kosus, Aydin

    2017-01-01

    Background: Demodex mites are acari that reside in the pilosebaceous unit of the skin and have been associated with skin disorders. The objective of this study was to investigate the prevalence of Demodex folliculorum (D. folliculorum) mites in polycystic ovary syndrome patients as well as to examine the relationship between Demodex infestation and the presence of acne and oily or dry skin types in polycystic ovary syndrome patients. 41 polycystic ovary syndrome patients and 47 non-polycystic ovary syndrome control subjects were enrolled in the study. polycystic ovary syndrome was diagnosed according to the revised 2003 ESHRE/ASRM polycystic ovary syndrome Consensus Workshop Group diagnostic criteria. Microscopic examination of D. folliculorum mites was carried out by standardized skin surface biopsy. The result was considered positive when there were more than 5 mites per cm2. D. folliculorum was positive in 53.7% of the polycystic ovary syndrome patients and 31.9% of the non-polycystic ovary syndrome group (p=0.052). Demodex positivity was significantly associated with acne (p=0.003) and oily skin (p=0.005) in the polycystic ovary syndrome patients but not in the controls. Our study is limited by the relatively small number of subjects and the observational nature of the study design. Demodex mites might have a role in acne pathogenesis in patients with polycystic ovary syndrome. Anti-Demodex treatment may increase the response to treatment of acne. Further studies are indicated.

  3. Radioactive caesium in hunters and their families

    Energy Technology Data Exchange (ETDEWEB)

    Aagren, G; Bergman, R [Natonal Defence Research Establishment, Umeaa (Sweden); Drottz-Sjoeberg, B M [Center for Risk Research, Stockholm (Sweden); Enander, A [National Defence Research Establishment, Karlstad (Sweden); Johansson, K J [Swedish Univ. of Agricultural Sciences, Uppsala (Sweden)

    1995-12-01

    We have measured the whole-body content of radiocesium in men and women in households, where at least one member is a hunter. Hunter families live to a great extent on forest products, such as mushrooms, berries and meat from game. Measurements were performed in two areas in northern Sweden and in three areas in the middle part of Sweden with deposition levels between 7 to 80 kBq/m{sup 2}. The average whole body content of {sup 137}Cs varied between 0.3 to 1.9 kBq for women and 0.6 to 4.7 kBq for men, depending on the deposition level. Each individual in the measured group was also asked to fill in questionnaire and a food diary to provide complementary information of, e.g., food intake and other life conditions. The single dietary factor most clearly related to whole-body content in these groups is the intake of meat from moose. The best regression model with variables from the questionnaire explained 60% of the variance in the whole-body content of {sup 137}Cs in the measurement group. Some of the variables in this model were deposition level, sex, rate of intake and estimated consumption of moose meat and estimated amount of bilberries in the fridge. 6 refs, 5 figs, 14 tabs.

  4. Radioactive caesium in hunters and their families

    International Nuclear Information System (INIS)

    Aagren, G.; Bergman, R.; Drottz-Sjoeberg, B.M.; Enander, A.; Johansson, K.J.

    1995-12-01

    We have measured the whole-body content of radiocesium in men and women in households, where at least one member is a hunter. Hunter families live to a great extent on forest products, such as mushrooms, berries and meat from game. Measurements were performed in two areas in northern Sweden and in three areas in the middle part of Sweden with deposition levels between 7 to 80 kBq/m 2 . The average whole body content of 137 Cs varied between 0.3 to 1.9 kBq for women and 0.6 to 4.7 kBq for men, depending on the deposition level. Each individual in the measured group was also asked to fill in questionnaire and a food diary to provide complementary information of, e.g., food intake and other life conditions. The single dietary factor most clearly related to whole-body content in these groups is the intake of meat from moose. The best regression model with variables from the questionnaire explained 60% of the variance in the whole-body content of 137 Cs in the measurement group. Some of the variables in this model were deposition level, sex, rate of intake and estimated consumption of moose meat and estimated amount of bilberries in the fridge. 6 refs, 5 figs, 14 tabs

  5. Reducing Lead on the Landscape: Anticipating Hunter Behavior in Absence of a Free Nonlead Ammunition Program.

    Directory of Open Access Journals (Sweden)

    Loren Chase

    Full Text Available Lead is a neurotoxin that has been documented to affect many forms of wildlife, and has been identified as a limiting factor in a population of California Condors in Northern Arizona. The Arizona Game and Fish Department provides vouchers for free nonlead ammunition to hunters selected to hunt within the distribution of California Condors, with the intention of having fewer lead-laden offal piles available to California Condors. Although wildlife agencies may reasonably assume voucher programs motivate hunters into choosing nonlead ammunition, the lead reduction efforts attributable to the voucher program has not been empirically quantified. Our intention was to compare a control group of hunters to a treatment group of hunters within California Condor occupied areas. Both groups received educational materials regarding the deleterious effects of lead, but the treatment group also received a voucher for a free initial box of ammunition. About half of the control group used nonlead ammunition, compared to about three-fourths of the treatment group. Prominent barriers to adoption of nonlead ammunition included a general difficulty of obtaining it, obtaining it in the desired caliber, and its costliness. Frequently mentioned motivations for using nonlead was the exhortation to use it by the Department, and the desire to aid California Condor recovery by hunters. The disparate compliance rates found herein confirm and quantify the success of nonlead ammunition voucher programs, but underscore the importance of working to increase the supply of nonlead ammunition with the end of facilitating its procurement and reducing its cost.

  6. Characterization of thrombosis in patients with Proteus syndrome.

    Science.gov (United States)

    Keppler-Noreuil, Kim M; Lozier, Jay N; Sapp, Julie C; Biesecker, Leslie G

    2017-09-01

    Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We conducted a comprehensive review of the medical histories and hematologic evaluations of 57 patients with Proteus syndrome to identify potential risk factors for thrombosis. We found that six of ten patients, who were deceased, died secondary to deep venous thrombosis and/or pulmonary embolism. Of the remaining 47 living patients, six had thromboembolic events that all occurred postoperatively and in an affected limb. Eleven of 21 patients had an abnormal hypercoagulable panel including Factor V Leiden heterozygotes, antithrombin III deficiency, positive lupus anticoagulant, or Protein C or S deficiencies. We observed that eight of 17 patients had an abnormal D-dimer level >0.5 mcg/dl, but deep venous thromboses occurred in only four of those with D-dimer >1.0 mcg/dl. We conclude that the predisposition to thrombosis is likely to be multifaceted with risk factors including vascular malformations, immobility, surgery, additional prothrombotic factors, and possible pathophysiologic effects of the somatic AKT1 mutation on platelet function or the vascular endothelium. The D-dimer test is useful as a screen for thromboembolism, although the screening threshold may need to be adjusted for patients with this disorder. We propose developing a registry to collect D-dimer and outcome data to facilitate adjustment of the D-dimer threshold for Proteus syndrome and related disorders, including PIK3CA-Related Overgrowth Spectrum. © 2017 Wiley Periodicals, Inc.

  7. Craniofacial morphology in Turner syndrome patients treated with growth hormone

    Directory of Open Access Journals (Sweden)

    Jovana Julsoki

    2015-05-01

    Full Text Available ABSTRACT Introduction: In addition to well-established physical characteristics, Turner syndrome patients have distinct craniofacial morphology. Since short stature is the most typical characteristic, Turner syndrome patients are commonly treated with growth hormone in order to increase final height. At the same time, growth hormone treatment was found to influence craniofacial growth and morphology in various groups of treated patients. Whereas craniofacial characteristics of Turner syndrome patients are well documented, comparatively little is known of craniofacial morphology of those who are treated with growth hormone. Aim: The aim of this study was to investigate craniofacial morphology in Turner syndrome patients treated with growth hormone in comparison to healthy females. Materials and methods: The cephalometric evaluation was conducted on twenty lateral cephalograms of Turner syndrome patients (13.53 ± 4.04 years treated with growth hormone for at least one year (4.94 ± 1.92 years in average. As a control group, forty lateral cephalograms of healthy female controls, who matched Turner syndrome patients by chronological (11.80 ± 2.37 years and skeletal age, were used. Eleven angular, seven linear measurements and six dimensional ratios were measured to describe craniofacial morphology. Results: The results obtained for angular measurements, in cephalometric analyses for Turner syndrome patients treated with growth hormone, revealed bimaxillary retrognathism. The linear measurements indicated longer mandibular ramus, anterior cranial base and both anterior and posterior facial heights. However, posterior cranial base and maxilla were in proportion to the anterior cranial base, when comparing dimensional ratios. Anterior cranial base, maxilla and mandibular ramus were larger in proportion to mandibular body; as well as posterior facial height was when compared to anterior facial height. Turner syndrome patients treated with growth

  8. Mutiple Spontaneous Rib Fractures in Patient with Cushing's Syndrome.

    Science.gov (United States)

    Lee, Hyun Jung; Je, Ji Hye; Seo, Ji Hye; Na, Young Ju; Yoo, Hye Jin

    2014-11-01

    Glucocorticoid (GC) excess, including Cushing's syndrome, is a common cause of secondary osteoporosis. Thirty to fifty percent of Cushing's syndrome patients experience non-traumatic fractures, which is often the presenting manifestation of Cushing's syndrome. However, there have been rare cases of Cushing's syndrome diagnosed only based upon bone manifestations. We describe a case of Cushing's syndrome that was diagnosed in a 44-year-old woman who initially visited our hospital due to multiple non-traumatic rib fractures. She did not exhibit any other manifestations of Cushing's syndrome such as moon face, buffalo hump or abdominal striae. Initially, we evaluated her for bone metastases from a cancer of unknown origin, but there was no evidence of metastatic cancer. Instead, we found a left adrenal incidentaloma. As a result of the hormone study, she was diagnosed as having Cushing's syndrome. Interestingly, her bony manifestation of Cushing's syndrome, which was evident in the bone scan and bone mineral densitometry, completely recovered after a left adrenalectomy. Therefore, the possibility of Cushing's syndrome as a cause of secondary osteoporosis should be considered in young patients with non-traumatic multiple fractures, with or without any other typical features of Cushing's syndrome.

  9. Rare successful pregnancy in a patient with Swyer Syndrome

    Directory of Open Access Journals (Sweden)

    Jyoti Taneja

    2016-10-01

    Full Text Available Objective: To report a rare successful pregnancy after fertility treatment in a patient with Swyer syndrome. Design: Case report. Setting: Herts & Essex Fertility Centre, Cheshunt, UK. Patient(s: A 36-year-old patient with 46, XY gonadal dysgenesis. 31 year old husband with normal sperm analysis. Intervention(s: Chromosomal analysis, Saline infusion sonography, Pipelle endometrial scratch, ICSI using donor eggs, Embryo Transfer, and Caesarean delivery. Main Outcome Measure(s: Successful pregnancy and live birth. Result(s: Successful treatment with donor eggs, pregnancy, and delivery. Conclusion(s: A patient with 46, XY gonadal dysgenesis in a specially tailored fertility program, can maintain a normal pregnancy and delivery. Keywords: Swyer syndrome, XY female, Gonadal dysgenesis, Primary amenorrhoea and HRT, Pregnancy in Swyer syndrome

  10. Severe obstructive sleep apnoea syndrome in an adult patient with Laron syndrome.

    Science.gov (United States)

    Dagan, Y; Abadi, J; Lifschitz, A; Laron, Z

    2001-08-01

    A 68 year old patient with Laron syndrome (primary growth hormone (GH) resistance-insensitivity due to a molecular defect of the GH receptor) and severe obstructive sleep apnoea syndrome is described. Treatment with continuous positive air pressure therapy resulted in improved nocturnal sleep, daytime alertness and cognitive functions. Copyright 2001 Harcourt Publishers Ltd.

  11. Colorectal Cancer Risk in Patients With Lynch Syndrome and Inflammatory Bowel Disease.

    Science.gov (United States)

    Derikx, Lauranne A A P; Smits, Lisa J T; van Vliet, Shannon; Dekker, Evelien; Aalfs, Cora M; van Kouwen, Mariëtte C A; Nagengast, Fokko M; Nagtegaal, Iris D; Hoogerbrugge, Nicoline; Hoentjen, Frank

    2017-03-01

    Lynch syndrome and inflammatory bowel diseases (IBD) are associated with an increased risk of colorectal cancer (CRC). However, it is not clear whether the risk of CRC is even higher for patients with a combination of Lynch syndrome and IBD. We investigated the risk for CRC in this subgroup by establishing a Lynch syndrome cohort from the Radboud University Medical Center (Nijmegen, The Netherlands) and the Academic Medical Center (Amsterdam, The Netherlands). Patients with heterozygous germline mutations in MLH1, MSH2 (and EPCAM deletion-mediated MSH2 methylation), MSH6, or PMS2 who were tested and/or treated from 1998 through 2014 were included. Patients who developed IBD were identified by linkage of this cohort to the Dutch nationwide Pathology Registry (PALGA). Subsequently, we compared the risk of CRC between Lynch syndrome patients with IBD and without IBD. Of 1046 patients with Lynch syndrome, 15 developed IBD (1.4%). Patients with Lynch syndrome and IBD were significantly younger (median age, 38.0 y) than patients with Lynch syndrome without IBD (median age, 52.0 y; P = .001). Nevertheless, a similar proportion of patients in each group developed CRC: 4 of the 15 patients (26.7%) with Lynch syndrome and IBD compared with 311 of the 1031 patients (30.2%) with Lynch syndrome without IBD. Patients with Lynch syndrome and IBD developed CRC at a younger age (median age, 36.0 y) than patients with Lynch syndrome without IBD (median age, 46.0 y; P = .045). However, the cumulative incidence of CRC was similar between groups (P = .121). All patients with Lynch syndrome and IBD who developed CRC had ulcerative colitis, producing a higher cumulative incidence of CRC for this IBD subgroup (P Lynch syndrome and IBD develop CRC risk at a younger age than patients without IBD; patients with ulcerative colitis are at especially high risk. Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.

  12. Brown-McLean Syndrome in a Pediatric Patient

    Science.gov (United States)

    Tourkmani, Abdo Karim; Martinez, Jaime D.; Berrones, David; Juárez-Domínguez, Brenda Y.; Beltrán, Francisco; Galor, Anat

    2015-01-01

    The purpose of this manuscript is to report the case of a 12-year-old patient who presented for routine ophthalmic examination after congenital cataract surgery performed at 2 months of age. The patient was diagnosed with bilateral Brown-McLean syndrome by slit lamp examination. No treatment was required because the patient was asymptomatic and had a clear central cornea. This is the first described case of Brown-McLean syndrome in a pediatric patient, representing the importance of clinical examination in the pediatric age group after cataract surgery because of the risk for patients of developing peripheral edema. PMID:26034485

  13. Clinical Characteristics of Dry Eye Patients With Chronic Pain Syndromes

    NARCIS (Netherlands)

    Vehof, Jelle; Smitt-Kamminga, Nicole Sillevis; Kozareva, Diana; Nibourg, Simone A.; Hammond, Christopher J.

    PURPOSE: To investigate clinical characteristics of dry eye disease (DED) patients with a chronic pain syndrome. DESIGN: Cross-sectional. study. METHODS: Four hundred twenty-five patients of a tertiary care DED patient cohort in the Netherlands were included. Chronic pain syndromes irritable bowel

  14. Down patients with Eisenmenger syndrome: Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, Mariëlle G. J.; Vis, Jeroen C.; van Loon, Rosa L. E.; Berger, Rolf M. F.; Hoendermis, Elke S.; van Dijk, Arie P. J.; Bouma, Berto J.; Mulder, Barbara J. M.

    2009-01-01

    Background: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. Methods: In this open-label

  15. Down patients with Eisenmenger syndrome : Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, Marielle G. J.; Vis, Jeroen C.; van Loon, Rosa L. E.; Berger, Rolf M. F.; Hoendermis, Elke S.; van Dijk, Arie P. J.; Bouma, Berto J.; Mulder, Barbara J. M.

    2009-01-01

    Background: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. Methods: In this open-label

  16. Down patients with Eisenmenger syndrome: Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, M.G.; Vis, J.C.; Loon, R.L. van; Berger, R.M.; Hoendermis, E.S.; Dijk, A.P.J. van; Bouma, B.J.; Mulder, B.J.

    2009-01-01

    BACKGROUND: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. METHODS: In this open-label

  17. Enhanced MRI in patients with Ramsay-Hunt's syndrome

    International Nuclear Information System (INIS)

    Yanagida, Masahiro; Ushiro, Koichi; Yamashita, Toshio; Kumazawa, Tadami; Katoh, Tsutomu

    1993-01-01

    Enhanced MRI was performed in 14 patients with Ramsay-Hunt,s syndrome to investigate the pathogenesis of this syndrome. All MRI studies were performed on a 0.5T superconductivity MRI system using a head coil with Gd-DTPA. Enhancement was observed in the areas of the distal internal auditory canal and labyrinthine segment in many patients, and was especially prominent in patients suffering from vertigo, tinnitus, and hearing loss. In some patients it involved not only the facial nerve of the internal auditory canal but also the cochlear nerve and vestibular nerves. Since histological changes of the facial nerve in patients with Ramsay-Hunt's syndrome are assumed to occur in the distal internal auditory canal and labyrinthine segment, which is more proximal than the geniculate ganglion, and the possibility is suggested that inflammation may be spread to the vestibular and cochlear nerve via the internal auditory canal. (14 refs., 2 figs.)

  18. Enhanced MRI in patients with Ramsay-Hunt's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yanagida, Masahiro; Ushiro, Koichi; Yamashita, Toshio; Kumazawa, Tadami [Kansai Medical Univ., Osaka (Japan). Dept. of Otolaryngology; Katoh, Tsutomu [Kansai Medical Univ., Osaka (Japan). Dept. of Radiology

    1993-01-01

    Enhanced MRI was performed in 14 patients with Ramsay-Hunt,s syndrome to investigate the pathogenesis of this syndrome. All MRI studies were performed on a 0.5T superconductivity MRI system using a head coil with Gd-DTPA. Enhancement was observed in the areas of the distal internal auditory canal and labyrinthine segment in many patients, and was especially prominent in patients suffering from vertigo, tinnitus, and hearing loss. In some patients it involved not only the facial nerve of the internal auditory canal but also the cochlear nerve and vestibular nerves. Since histological changes of the facial nerve in patients with Ramsay-Hunt's syndrome are assumed to occur in the distal internal auditory canal and labyrinthine segment, which is more proximal than the geniculate ganglion, and the possibility is suggested that inflammation may be spread to the vestibular and cochlear nerve via the internal auditory canal. (14 refs., 2 figs.).

  19. CE: Nursing Management of Patients with Ehlers-Danlos Syndrome.

    Science.gov (United States)

    Anderson, Linda K

    2015-07-01

    Ehlers-Danlos syndrome (EDS), a hereditary connective tissue disorder, has historically been misunderstood and underdiagnosed by health care providers. Because of the high degree of phenotypic variability, patients are often correctly diagnosed only after years of seemingly unrelated but debilitating injuries and illnesses. Specific genetic mutations have been identified for some, but not all, EDS types; patients presenting with a high index of suspicion should be referred to a geneticist. As awareness and recognition of the syndrome improve, nurses are increasingly likely to care for patients with EDS. This article gives a brief overview of the syndrome and provides guidance on ways to manage symptoms, recognize and prevent serious complications, and improve patients' quality of life.

  20. Possible predictors of depressive syndrome in patients with chronic obstructive pulmonary disease.

    Directory of Open Access Journals (Sweden)

    T. O. Pertseva

    2018-05-01

    Full Text Available Recently, the problem of depressive syndrome in COPD patients often attracts the attention of doctors and scientists. It is important to study the relationship between the presence of the depressive syndrome, on the one hand, and the clinical and functional characteristics of COPD patients on the other, in order to determine the categories of patients inclined to develop a depressive syndrome. The purpose of the study: to determine the relationship between the presence of depressive syndrome in COPD patients with the severity of their clinical symptoms of COPD and the level of functional impairments. 52 COPD patients of clinical groups C and D were examined. Depending on the presence of depressive syndrome patients were divided into two subgroups: a subgroup 1 – 15 COPD patients with concomitant depressive syndrome, a subgroup 2 – 37 people without it. The examination included general clinical and functional methods. It was determined that the development of depressive syndrome in COPD patients can be affected by the high severity of clinical symptoms of COPD in general, decreased tolerance to physical activity, long duration of the disease, poor quality of life. At the same time, the levels of functional indicators, in particular, OFV1 and SpO2, may not have a significant relationship with the occurrence of depressive syndrome, even in patients with severe COPD.

  1. [Study on the relation between Pi-deficiency pattern and metabolic syndrome in patients with polycystic ovarian syndrome].

    Science.gov (United States)

    Wang, Xing-Juan; Jin, Hua-Liang; Liu, Ying

    2010-11-01

    To evaluate the relation between Pi-deficiency syndrome (PDS) pattern and metabolic syndrome (MS) in patients with polycystic ovarian syndrome (PCOS), for exploring their internal pathologic mechanism. Among the 102 PCOS patients, 22 complicated with MS (PCOS-MS) and 80 not complicated with MS (PCOS-NMS), the Chinese medicine syndrome pattern was differentiated as PDS in 50 patients and non-PDS in 52. The clinical data, in terms of fasting blood glucose (FBG), fasting insulin (FINS), waistline, body weight (BW), stature, blood pressure (BP), etc. was collected and compared and the relation between data was analyzed. Levels of FINS and homeostasis model of assessment for insulin resistence index (HOMA-IR), in PCOS-MS patients were significantly higher than those in PCOS-NMS patients, also higher in patients of PDS pattern than those of non-PDS pattern (P 0.05). PCOS patients of PDS pattern are the high-risk population of MS, which might be related with the insulin resistance. So, early treatment of PCOS, especially on patients of PDS pattern, is of important significance for preventing the complication, as MS, of the disease.

  2. Congenital heart defects in molecularly proven Kabuki syndrome patients.

    Science.gov (United States)

    Digilio, Maria Cristina; Gnazzo, Maria; Lepri, Francesca; Dentici, Maria Lisa; Pisaneschi, Elisa; Baban, Anwar; Passarelli, Chiara; Capolino, Rossella; Angioni, Adriano; Novelli, Antonio; Marino, Bruno; Dallapiccola, Bruno

    2017-11-01

    The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a molecularly proven diagnosis of Kabuki syndrome. Pathogenic variants in KMT2D (MLL2) were detected in 27 patients, and in KDM6A gene in one. CHD was diagnosed in 19/27 (70%) patients with KMT2D (MLL2) variant, while the single patient with KDM6A change had a normal heart. The anatomic types among patients with CHD included aortic coarctation (4/19 = 21%) alone or associated with an additional CHD, bicuspid aortic valve (4/19 = 21%) alone or associated with an additional CHD, perimembranous subaortic ventricular septal defect (3/19 = 16%), atrial septal defect ostium secundum type (3/19 = 16%), conotruncal heart defects (3/19 = 16%). Additional CHDs diagnosed in single patients included aortic dilatation with mitral anomaly and hypoplastic left heart syndrome. We also reviewed CHDs in patients with a molecular diagnosis of Kabuki syndrome reported in the literature. In conclusion, a CHD is detected in 70% of patients with KMT2D (MLL2) pathogenic variants, most commonly left-sided obstructive lesions, including multiple left-sided obstructions similar to those observed in the spectrum of the Shone complex, and septal defects. Clinical management of Kabuki syndrome should include echocardiogram at the time of diagnosis, with particular attention to left-sided obstructive lesions and mitral anomalies, and annual monitoring for aortic arch dilatation. © 2017 Wiley Periodicals, Inc.

  3. Investigating hyperventilation syndrome in patients suffering from empty nose syndrome.

    Science.gov (United States)

    Mangin, David; Bequignon, Emilie; Zerah-Lancner, Francoise; Isabey, Daniel; Louis, Bruno; Adnot, Serge; Papon, Jean-François; Coste, André; Boyer, Laurent; Devars du Mayne, Marie

    2017-09-01

    Patients with empty nose syndrome (ENS) following turbinate surgery often complain about breathing difficulties. We set out to determine if dyspnea in patients with ENS was associated with hyperventilation syndrome (HVS). We hypothesized that lower airway symptoms in ENS could be explained by HVS. Observational prospective study. All consecutive patients referred to our center for ENS over 1 year were invited to participate. Patients completed the Nijmegen score and underwent a hyperventilation provocation test (HVPT) and arterial blood gas and cardiopulmonary tests. HVS was defined by a delayed return of the end-tidal partial pressure of carbon dioxide in the expired gas to baseline during HVPT. Patients with HVS were asked to complete the Sinonasal Outcome Test (SNOT)-16 questionnaire before and after a specific eight-session respiratory rehabilitation program. Twenty-two of the 29 patients referred for ENS during the study period were eligible for inclusion and underwent a complete workup. HVS was diagnosed in 17 of these patients (77.3%). In the five patients who completed the SNOT-16, the score was significantly lower after rehabilitation. This study suggests that HVS is frequent in patients with ENS, and that symptoms can be improved by respiratory rehabilitation. Pathophysiological links between ENS and HVS deserve to be further explored. 2b Laryngoscope, 127:1983-1988, 2017. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

  4. Safety and efficacy of angioplasty with intracoronary stenting in patients with unstable coronary syndromes. Comparison with stable coronary syndromes

    Directory of Open Access Journals (Sweden)

    Luís C. L. Correia

    2000-06-01

    Full Text Available OBJECTIVE: To assess safety and efficacy of coronary angioplasty with stent implantation in unstable coronary syndromes. METHODS: Retrospective analysis of in-hospital and late evolution of 74 patients with unstable coronary syndromes (unstable angina or infarction without elevation of the ST segment undergoing coronary angioplasty with stent placement. These 74 patients were compared with 31 patients with stable coronary syndromes (stable angina or stable silent ischemia undergoing the same procedure. RESULTS: No death and no need for revascularization of the culprit artery occurred in the in-hospital phase. The incidences of acute non-Q-wave myocardial infarction were 1.4% and 3.2% (p=0.6 in the unstable and stable coronary syndrome groups, respectively. In the late follow-up (11.2±7.5 months, the incidences of these events combined were 5.7% in the unstable coronary syndrome group and 6.9% (p=0.8 in the stable coronary syndrome group. In the multivariate analysis, the only variable with a tendency to significance as an event predictor was diabetes mellitus (p=0.07; OR=5.2; 95% CI=0.9-29.9. CONCLUSION: The in-hospital and late evolutions of patients with unstable coronary syndrome undergoing angioplasty with intracoronary stent implantation are similar to those of the stable coronary syndrome group, suggesting that this procedure is safe and efficacious when performed in unstable coronary syndrome patients.

  5. Somatic syndromes, insomnia, anxiety, and stress among sleep disordered breathing patients.

    Science.gov (United States)

    Amdo, Tshering; Hasaneen, Nadia; Gold, Morris S; Gold, Avram R

    2016-05-01

    We tested the hypothesis that the prevalence of somatic syndromes, anxiety, and insomnia among sleep disordered breathing (SDB) patients is correlated with their levels of somatic arousal, the symptoms of increased sympathetic nervous system tone under conditions of stress. We administered the Body Sensation Questionnaire (BSQ; a 17-item questionnaire with increasing levels of somatic arousal scored 17-85) to 152 consecutive upper airway resistance syndrome (UARS) patients and 150 consecutive obstructive sleep apnea/hypopnea (OSA/H) patients. From medical records, we characterized each patient in terms of the presence of syndromes and symptoms into three categories: somatic syndromes (six syndromes), anxiety (anxiety disorders, nightmares, use of benzodiazepines), and insomnia (sleep onset, sleep maintenance, and use of hypnotics). For the pooled sample of SDB patients, we modeled the correlation of the BSQ score with the presence of each syndrome/symptom parameter within each of the three categories, with adjustment for male vs. female. Mean BSQ scores in females were significantly higher than those in males (32.5 ± 11.1 vs. 26.9 ± 8.2; mean ± SD). Increasing BSQ scores significantly correlated with increasing prevalence rates of somatic syndromes (p insomnia (p ≤ 0.0001). In general, females had higher prevalence rates of somatic syndromes and symptoms of anxiety than males at any BSQ score while rates of insomnia were similar. In patients with SDB, there is a strong association between the level of somatic arousal and the presence of stress-related disorders like somatic syndromes, anxiety, and insomnia.

  6. [Refeeding syndrome in geriatric patients : A frequently overlooked complication].

    Science.gov (United States)

    Wirth, Rainer; Diekmann, Rebecca; Fleiter, Olga; Fricke, Leonhardt; Kreilkamp, Annika; Modreker, Mirja Katrin; Marburger, Christian; Nels, Stefan; Schaefer, Rolf; Willschrei, Heinz-Peter; Volkert, Dorothee

    2018-01-01

    The refeeding syndrome is a life-threatening complication that can occur after initiation of a nutrition therapy in malnourished patients. If the risk factors and pathophysiology are known, the refeeding syndrome can effectively be prevented and treated, if recognized early. A slow increase of food intake and the close monitoring of serum electrolyte levels play an important role. Because the refeeding syndrome is not well known and the symptoms may vary extremely, this complication is poorly recognized, especially against the background of geriatric multimorbidity. This overview is intended to increase the awareness of the refeeding syndrome in the risk group of geriatric patients.

  7. Contrasts in livelihoods and protein intake between commercial and subsistence bushmeat hunters in two villages on Bioko Island, Equatorial Guinea.

    Science.gov (United States)

    Vega, María Grande; Carpinetti, Bruno; Duarte, Jesús; Fa, John E

    2013-06-01

    Across West and Central Africa, wildlife provides a source of food and income. We investigated the relation between bushmeat hunting and household wealth and protein consumption in 2 rural communities in Bioko Island, Equatorial Guinea. One village was dedicated to commercial hunting, the other trapped game primarily for food. We tested whether commercial-hunter households were nutritionally advantaged over subsistence-hunter households due to their higher income from the bushmeat trade and greater access to wild-animal protein. We conducted bushmeat-offtake surveys in both villages (captures by hunters and carcasses arriving to each village). Mammals (including threatened primates: black colobus [Colobus satanas], Preussi's guenon [Allochrocebus preussi], and russet-eared guenon [Cercopithecus erythrotis]), birds, and reptiles were hunted. The blue duiker (Philantomba monticola), giant pouched rat (Cricetomys emini), and brush-tailed porcupine (Atherurus africanus) contributed almost all the animal biomass hunted, consumed, or sold in both villages. Monkeys and Ogilbyi's duikers (Cephalophus ogilbyi) were hunted only by commercial hunters. Commercial hunters generated a mean of US$2000/year from bushmeat sales. Households with commercial hunters were on average wealthier, generated more income, spent more money on nonessential goods, and bought more products they did not grow. By contrast, households with subsistence hunters spent less on market items, spent more on essential products, and grew more of their own food. Despite these differences, average consumption of vegetable protein and domestic meat and bushmeat protein did not differ between villages. Our results highlight the importance of understanding the socioeconomic and nutritional context of commercial and subsistence bushmeat hunting to correctly interpret ways of reducing their effects on threatened species and to enable the sustainable offtake of more productive taxa. © 2013 Society for Conservation

  8. Project CHECO Southeast Asia Report. OV-1/AC-119 Hunter-Killer Team

    National Research Council Canada - National Science Library

    Sexton, Richard R; Hodgson, William M

    1972-01-01

    Hunter-Killer operations were but a logical extension of the resourceful thinking behind the development of gunships as a solution to some of the tactical problems of the unique war in Southeast Asia...

  9. Specifics of mental disorders of patients with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    K. I. Kleban

    2017-09-01

    Full Text Available In the general-somatic network there is a steady increase in the number of patients with psychosomatic disorders. Problems of providing adequate psychiatric and psychotherapeutic assistance to this category of patients are related to the motivation of patients to participate in psychological measures and the readiness of the medical system to provide comprehensive care on the basis of the biopsychosocial approach. Mental factors are involved both in the occurrence and course of a metabolic syndrome in the form of a patient's lifestyle and behavior patterns of healthy functioning, and is a consequence of somatic pathology. Mental factors are involved both in the occurrence and course of a metabolic syndrome in the form of a patient's lifestyle and behavior patterns of healthy functioning, and is a consequence of somatic pathology. So mental disorders of metabolic syndrome are manifested in the form of psychosocial maladaptation, neurotic, affective, personality, and organic disorders. Desynchronosis which is a factor of the development of a metabolic syndrome and characterizes the complex chronobiological component of the regulation of psychophysiological functions in norm and under the influence of stress, deserves special attention. Addressing the diagnosis of mental disorders associated with metabolic syndrome is precisely aimed at determining chronobiological disorders of psychosomatic integrated areas and is supposed to improve diagnostic and treatment process and to shorten the treatment of these disorders.

  10. Linking Hunter Knowledge with Forest Change to Understand Changing Deer Harvest Opportunities in Intensively Logged Landscapes

    Directory of Open Access Journals (Sweden)

    Todd J. Brinkman

    2009-06-01

    Full Text Available The effects of landscape changes caused by intensive logging on the availability of wild game are important when the harvest of wild game is a critical cultural practice, food source, and recreational activity. We assessed the influence of extensive industrial logging on the availability of wild game by drawing on local knowledge and ecological science to evaluate the relationship between forest change and opportunities to harvest Sitka black-tailed deer (Odocoileus hemionus sitkensis on Prince of Wales Island, Alaska. We used data collected through interviews with local deer hunters and GIS analysis of land cover to determine relationships among landscape change, hunter access, and habitat for deer hunting over the last 50 yr. We then used these relationships to predict how harvest opportunities may change in the future. Intensive logging from 1950 into the 1990s provided better access to deer and habitat that facilitated deer hunting. However, successional changes in intensively logged forests in combination with a decline in current logging activity have reduced access to deer and increased undesirable habitat for deer hunting. In this new landscape, harvest opportunities in previously logged landscapes have declined, and hunters identify second-growth forest as one of the least popular habitats for hunting. Given the current state of the logging industry in Alaska, it is unlikely that the logging of the remaining old-growth forests or intensive management of second-growth forests will cause hunter opportunities to rebound to historic levels. Instead, hunter opportunities may continue to decline for at least another human generation, even if the long-term impacts of logging activity and deer harvest on deer numbers are minimal. Adapting hunting strategies to focus on naturally open habitats such as alpine and muskeg that are less influenced by external market forces may require considerably more hunting effort but provide the best option for

  11. THE METABOLIC SYNDROME AMONG PATIENTS WITH ...

    African Journals Online (AJOL)

    Objectives: To determine the frequency of occurrence of the Metabolic Syndrome among patients presenting with cardiovascular disease at the Korle Bu Teaching Hospital, Ghana. Methods: This was a case-control study of 100 con-secutive cardiovascular disease patients and 100 age- and sex- matched controls who ...

  12. Cushing's syndrome in type 2 diabetes patients with poor glycemic control.

    Science.gov (United States)

    Gungunes, Askin; Sahin, Mustafa; Demirci, Taner; Ucan, Bekir; Cakir, Evrim; Arslan, Muyesser Sayki; Unsal, Ilknur Ozturk; Karbek, Basak; Calıskan, Mustafa; Ozbek, Mustafa; Cakal, Erman; Delibasi, Tuncay

    2014-12-01

    Cushing's syndrome may be more frequent in some specific patient groups such as type 2 diabetes and obesity. The aim of this study was to investigate the prevalence of Cushing's syndrome in outpatients with type 2 diabetes with poor glycemic control despite at least 3-months insulin therapy. Outpatients with type 2 diabetes whose glycemic control is poor (Hb Alc value >7 %) despite receiving at least 3-months long insulin treatment (insulin alone or insulin with oral antidiabetics) were included. Patients with classic features of Cushing's syndrome were excluded. Overnight 1 mg dexamethasone suppression test (DST) was performed as a screening test. A total of 277 patients with type 2 diabetes whose glycemic control is poor (Hb Alc value >7 %) despite insulin therapy were included. Two of the 277 patients with type 2 diabetes were diagnosed with Cushing's syndrome (0.72 %). Hypertension was statistically more frequent in the patients with cortisol levels ≥1.8 μg/dL than the patients with cortisol levels Cushing's syndrome among patients with type 2 diabetes with poor glycemic control despite insulin therapy is much higher than in the general population. The patients with type 2 diabetes with poor glycemic control despite at least three months of insulin therapy should be additionally tested for Cushing's syndrome if they have high dose insülin requirements.

  13. Report of seven neurological patients with misidentification syndrome

    Directory of Open Access Journals (Sweden)

    Edson José Amâncio

    2004-12-01

    Full Text Available Objective: To present clinical, neuropsychological and laboratorydata on 7 patients with misidentification syndrome and to discussits possible etiologies and pathophysiology. Methods: Sevenpatients presenting misidentification syndrome, 6 female and 1male, aged 64-78 years were studied. All had a brain diseasediagnosed by clinical and laboratory data. All patients weresubmitted to general clinical examination, neurological andneuropsychological examinations, and brain magnetic resonanceimaging. Results: All patients were capable to recognizephotographs of relatives or famous persons. They presented goodvisual acuity that allowed them reading texts with small print andpreserved visual field. The etiologies of brain lesions were ischemicstroke, left temporal lobe tumor, idiopathic hydrocephalus in elderlypatients, Parkinson’s disease and probable Alzheimer’s disease.None presented enough cognitive disorders to characterize seniledementia. Conclusion: Misidentification syndromes are notnecessarily related to one single psychogenic etiology; on thecontrary, many organic causes may be related with the clinicalpicture. Most patients improved when submitted to treatmentwith typical or atypical neuroleptic drugs.

  14. Fluctuating Cotard syndrome in a patient with advanced Parkinson disease.

    Science.gov (United States)

    Solla, Paolo; Cannas, Antonino; Orofino, Gianni; Marrosu, Francesco

    2015-02-01

    Nonmotor fluctuations of psychiatric symptoms in patients suffering from Parkinson disease (PD) represent a very disabling condition, which may seriously interfere with the quality of life of patients and caregivers. In this regard, these disturbances are present with a higher frequency in advanced PD patients with associated motor complications and can appear both in "on" and in "off" period. Here we report on a case of fluctuating Cotard syndrome clearly related to "wearing-off" deterioration and responsive to levodopa treatment in a patient affected by advanced PD. A 76-year-old woman presented with a 13-year history of PD. Her caregivers reported that, in the last 2 months, she has developed a sudden onset of nihilistic delusion (Cotard syndrome), mainly during the "wearing-off" condition and associated with end of dose dyskinesias and akathisia.As Cotard syndrome clearly improved with the administration of levodopa, the patient was successfully treated changing the levodopa schedule with the shortening of intervals between levodopa intakes in small doses. Both the appearance of the Cotard syndrome in this patient during the "off" state and the subsequent improvement of psychotic symptoms after levodopa administration strongly suggest an important correlation with the dopaminergic dysregulation.This finding suggests that dopaminergic deficit might play a key factor in the development of Cotard syndrome.

  15. Zinc and homocysteine levels in polycystic ovarian syndrome patients with insulin resistance.

    Science.gov (United States)

    Guler, Ismail; Himmetoglu, Ozdemir; Turp, Ahmet; Erdem, Ahmet; Erdem, Mehmet; Onan, M Anıl; Taskiran, Cagatay; Taslipinar, Mine Yavuz; Guner, Haldun

    2014-06-01

    In this study, our objective was to evaluating the value of serum zinc levels as an etiologic and prognostic marker in patients with polycystic ovarian syndrome. We conducted a prospective study, including 53 women with polycystic ovarian syndrome and 33 healthy controls. We compared serum zinc levels, as well as clinical and metabolic features, of the cases. We also compared serum zinc levels between patients with polycystic ovarian syndrome with insulin resistance. Mean zinc levels were found to be significantly lower in patients with polycystic ovarian syndrome than healthy controls. Multiple logistic regression analysis of significant metabolic variables between polycystic ovarian syndrome and control groups (serum zinc level, body mass index, the ratio of triglyceride/high-density lipoprotein cholesterol, and homocysteine) revealed that zinc level was the most significant variable to predict polycystic ovarian syndrome. Mean serum zinc levels tended to be lower in patients with polycystic ovarian syndrome with impaired glucose tolerance than patients with normal glucose tolerance, but the difference was not statistically significant. In conclusion, zinc deficiency may play a role in the pathogenesis of polycystic ovarian syndrome and may be related with its long-term metabolic complications.

  16. Sacrificing Steve: How I Killed the Crocodile Hunter

    Directory of Open Access Journals (Sweden)

    Luke Carman

    2010-09-01

    Full Text Available Bob Hodge and Vijay Mishra argue that the complex issues of illegitimacy at the core of Australian identity are repressed through a continual process of cyclical silencing, where traces of a shameful past are exorcised by a focus on images of a mythologised ‘legend’, embodied in characters such as 'The Man from Snowy River'. This article explores such a 'schizophrenic' cycle in relation to the life, death and resurrection of Steve 'Crocodile Hunter' Irwin.

  17. Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients

    Directory of Open Access Journals (Sweden)

    Marianna Spunton

    2018-03-01

    Full Text Available Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and characterized by typical clinical features. The congenital malformations typical of this syndrome call for early diagnostic and surgical procedures requiring general anesthesia, but few information about the anesthesiology management of such patients is available. We enrolled 11 families of patients with Mowat-Wilson syndrome who had undergone surgical or diagnostic procedures requiring general anesthesia, and sent them a retrospective questionnaire including 16 open questions about the procedures. They were further contacted by phone for a semi-structured interview. A total of 37 procedures requiring general anesthesia was reported in 11 patients. Only two patients reported anesthesia-related complications during the procedure. No true additional anesthesia-related risk was present for the patients with MW syndrome, besides difficult intubation, weaning and lower respiratory tract infection. Perception of risk, however, is derived by non-medical observation on the part of the parents.

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

    Science.gov (United States)

    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.

  19. Assessment of Sexual Dysfunction in Patients with Fibromyalgia Syndrome

    Directory of Open Access Journals (Sweden)

    Rahime Nur Ülker

    2013-12-01

    Full Text Available Objectives: The aim of our study is to determine the presence, quality of sexual dysfunction in patients with fibromyalgia syndrome and to compare with normal population. Material and Methods: A total of 55 sexually active women who were admitted to Department of Physical Therapy and Rehabilitation of Antalya Research and Training Hospital and diagnosed with fibromyalgia syndrome according to 1990 and 2010 American College of Rheumatology (ACR criteria. A control group composed of 50 sexually active women who were admitted to our clinic with various musculoskeletal system complaints were also included in the study in order to compare the parameters used for clinical assessment of patients and to determine whether the patients differ from normal population. Patients and controls who met inclusion criteria were applied Female Sexual Function Index (FSFI for assessment of sexual function. This test was developed by Rosen and colleagues in 2000, it is composed of 19 questions and inquires six different dimensions including desire, arousal, lubrication, orgasm, sexual satisfaction and pain. Turkish validation test was done by Turkish Society Of Andrology in 2003, answers are multiplied with a coefficient and each section is evaluated on six scores. Minimum score is 2.4 and maximum is 36 and standardly used for assessment of female sexual dysfunction in Turkey. Results: Subscale and total score of Female Sexual Function Index of Fibromyalgia syndrome patients were found statistically significantly lower than those of control group (p<0.05. Conclusion: Disorders of sexual function or its quality are one of the problems seen in fibromyalgia syndrome patients. It should be noticed that sexual function assessment must be a part of treatment of fibromyalgia syndrome. It is quite difficult to determine the mechanism between sexual dysfunction and fibromyalgia syndrome and new and larger studies are needed to determine this mechanism. (Turkish Journal of

  20. Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients

    International Nuclear Information System (INIS)

    Sanderson, Evelyn; Newman, Vanessa; Haigh, Susan F.; Sidhu, Paul S.; Baker, Alastair

    2002-01-01

    Background: Vertebral anomalies may help differentiate Alagille syndrome from other causes of chronic cholestasis. We suspect significant under-reporting of vertebral anomalies in children with Alagille syndrome. Objective: To compare the vertebral anomalies in Alagille syndrome with those in patients with chronic cholestasis due to other causes. The accuracy of original radiographic reporting was evaluated. Materials and methods: Spinal radiographs of 50 patients with Alagille syndrome and 31 non-Alagille syndrome cholestatic patients were evaluated retrospectively by four trained radiologists. The number, site and type of vertebral anomaly were noted. The consensus evaluation was then compared to the original report. Results: Vertebral anomalies were found in 66% of patients with Alagille syndrome and 9.7% of cholestatic control subjects (P<0.0005). In the patients with Alagille syndrome, incomplete fusion of the anterior arch, most frequently at the D6-9 level, accounted for 123 of 126 anomalies. Multiple vertebral anomalies occurred in 48% of patients with Alagille syndrome (mean 2.5 anomalies). Vertebral anomalies were misreported in 54% of cases of Alagille syndrome. Conclusions: Vertebral anomalies are significantly more common in Alagille syndrome than in chronic cholestasis of other causes and are frequently overlooked. Reporting should be undertaken by a radiologist familiar with the appearance and location of these vertebral anomalies. (orig.)

  1. Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients

    OpenAIRE

    Marianna Spunton; Livia Garavelli; Paola Cerutti Mainardi; Uta Emmig; Enrico Finale; Andrea Guala

    2018-01-01

    Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and characterized by typical clinical features. The congenital malformations typical of this syndrome call for early diagnostic and surgical procedures requiring general anesthesia, but few information about the anesthesiology management of such patients is available. We enrolled 11 families of patients with Mowat-Wilson syndrome who had undergone surgical or diagnostic procedures requiri...

  2. Digital subtraction angiography in patients with Marfan's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Rauber, K; Riemann, H

    1987-06-01

    Marfan's syndrome is a rare inborn error of metabolism. Marfan patients are prone to aneurysms of the ascending aorta and run a high risk of rupture of the aortic arch. The diameter of the aneurysm is the most important predictor of the risk and therefore the leading point for surgical interventions. IV and IA-DSA according to our experiences are simple and effective methods in pre- and postoperative evaluation of patients with the syndrome.

  3. Hide Tanning and Its Use in Taiga: The Case of the Orochen-Evenki Reindeer Herders and Hunters of Zabaikalye (East Siberia)

    OpenAIRE

    Donatas Brandišauskas

    2010-01-01

    This article documents the way in which the Orochen-Evenki hunters and herders in northern part of Zabaikalye tan hides and produce gear in the post-Soviet era. Here, I wish to present the argument that it is difficult to understand the reviving of hide tanning in remote villages and the taiga without understanding how hunters and herders in this region adapt to the unstable post-Soviet environment. I suggest that hunters and herders aim to maintain their autonomy from goods and resources imp...

  4. Disease pattern in Danish patients with Peutz-Jeghers syndrome

    DEFF Research Database (Denmark)

    Jelsig, A M; Qvist, N; Sunde, L

    2016-01-01

    PURPOSE: In this paper, we aimed to collect genetic and medical information on all Danish patients with Peutz-Jeghers syndrome (PJS), in order to contribute to the knowledge of phenotype and genotype. Peutz-Jeghers syndrome is a hereditary syndrome characterized by multiple hamartomatous polyps...... in the GI tract, mucocutaneous pigmentations, and an increased risk of cancer in the GI tract and at extraintestinal sites. Over 90 % of patients harbour a pathogenic mutation in STK11. METHODS: Based on the Danish Pathology Data Bank, the Danish National Patient Register, as well as information from...... of the small bowel as the most frequent presenting symptom. We noted 18 occurrences of cancer at various anatomical sites, including a case of thyroid cancer and penile cancer. Eight of the deceased patients had died of cancer. Eighteen different mutations in STK11 had been detected in 28 patients. CONCLUSION...

  5. Preoperative Detailed Coagulation Tests Are Required in Patients With Noonan Syndrome.

    Science.gov (United States)

    Morice, Anne; Harroche, Annie; Cairet, Pascale; Khonsari, Roman H

    2017-12-29

    Patients with Noonan syndrome often require surgery at young ages. They are at high risk of perioperative bleeding from coagulation defects that might not have been detected by routine screening. These risks are rarely described in the oral and maxillofacial surgery (OMS) literature. The aim of this study was to evaluate the perioperative bleeding risks associated with Noonan syndrome and to propose preoperative guidelines. This report describes a retrospective case series of patients with Noonan syndrome who underwent OMS procedures during a continuous observational period (2013 through 2016) in the authors' center. Clinical data, blood screening test results, and perioperative bleeding were analyzed. Five patients (age, 4 to 20 yr) with Noonan syndrome who underwent OMS procedures were included in this study. One patient presented a spontaneous bleeding tendency (epistaxis requiring cauterization). Blood screening showed clotting defects in 3 patients. One patient presented abnormal perioperative bleeding owing to a mild defect in factor XI. Patients with Noonan syndrome must be referred to a hematologist for specific preoperative investigations and for adapted perioperative management. Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  6. Basal Cell Carcinomas in Gorlin Syndrome: A Review of 202 Patients

    International Nuclear Information System (INIS)

    Jones, E. A.; Shenton, A.; Evans, D. G.; Sajid, M. I.

    2011-01-01

    Gorlin syndrome (Naevoid Basal Cell Carcinoma Syndrome) is a rare autosomal dominant syndrome caused by mutations in the PTCH gene with a birth incidence of approximately 1 in 19,000. Patients develop multiple basal cell carcinomas of the skin frequently in early life and also have a predisposition to additional malignancies such as medulloblastoma. Gorlin Syndrome patients also have developmental defects such as bifid ribs and other complications such as jaw keratocysts. We studied the incidence and frequency of basal cell carcinomas in 202 Gorlin syndrome patients from 62 families and compared this to their gender and mutation type. Our data suggests that the incidence of basal cell carcinomas is equal between males and females and the mutation type cannot be used to predict disease burden

  7. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient.

    OpenAIRE

    Morgado, P; Ribeiro, R; Cerqueira, JJ

    2015-01-01

    Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient Introduction . Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method . We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Res...

  8. Increased prevalence of metabolic syndrome in patients with acne inversa.

    Directory of Open Access Journals (Sweden)

    Robert Sabat

    Full Text Available BACKGROUND: Acne inversa (AI; also designated as Hidradenitis suppurativa is a common chronic inflammatory skin disease, localized in the axillary, inguinal and perianal skin areas that causes painful, fistulating sinuses with malodorous purulence and scars. Several chronic inflammatory diseases are associated with the metabolic syndrome and its consequences including arteriosclerosis, coronary heart disease, myocardial infraction, and stroke. So far, the association of AI with systemic metabolic alterations is largely unexplored. METHODS AND FINDINGS: A hospital-based case-control study in 80 AI patients and 100 age- and sex-matched control participants was carried out. The prevalence of central obesity (odds ratio 5.88, hypertriglyceridemia (odds ratio 2.24, hypo-HDL-cholesterolemia (odds ratio 4.56, and hyperglycemia (odds ratio 4.09 in AI patients was significantly higher than in controls. Furthermore, the metabolic syndrome, previously defined as the presence of at least three of the five alterations listed above, was more common in those patients compared to controls (40.0% versus 13.0%; odds ratio 4.46, 95% confidence interval 2.02 to 9.96; P<0.001. AI patients with metabolic syndrome also had more pronounced metabolic alterations than controls with metabolic syndrome. Interestingly, there was no correlation between the severity or duration of the disease and the levels of respective parameters or the number of criteria defining the metabolic syndrome. Rather, the metabolic syndrome was observed in a disproportionately high percentage of young AI patients. CONCLUSIONS: This study shows for the first time that AI patients have a high prevalence of the metabolic syndrome and all of its criteria. It further suggests that the inflammation present in AI patients does not have a major impact on the development of metabolic alterations. Instead, evidence is given for a role of metabolic alterations in the development of AI. We recommend

  9. Metabolomic changes in patients with chronic obstructive pulmonary disease with abnormal Savda syndrome.

    Science.gov (United States)

    Xu, Wei-Fang; Upur, Halmurat; Wu, Yu-Hua; Mamtimin, Batur; Yang, Jian; Ga, Yong-Juan; You, Li

    2015-02-01

    The aim of this study was to determine the metabolic biomarkers for abnormal Savda syndrome in patients with chronic obstructive pulmonary disease (COPD). Based on Traditional Uyghur Medicine (TUM) theory, a total of 103 patients with COPD were classified into abnormal Savda and non-abnormal Savda syndrome groups and 52 healthy volunteers acted as the control group. Blood samples from the three groups were analyzed using nuclear magnetic resonance (NMR) spectroscopy combined with orthogonal projection to latent structure-discriminant analysis. NMR tests showed that the regional distributions of the patients with COPD with abnormal Savda syndrome, those with non-abnormal Savda syndrome and the control group were completely separate (P>0.05). The patients with COPD with abnormal Savda syndrome exhibited relatively low levels of amino acids, glycoproteins and unsaturated lipids (PAbnormal Savda syndrome was one of the main types of syndrome among the patients with COPD; increased age, a longer duration of illness and a higher disease severity were characteristic of this type of syndrome. In addition, the present study provided biochemical evidence for the TUM theory-based classification of patients with COPD; these biomarkers can be used in the clinic for the diagnosis of COPD with abnormal Savda syndrome. The study also demonstrated that the plasma metabolic disorder in patients with COPD with abnormal Savda syndrome was more serious than that in the control and COPD with non-abnormal Savda syndrome groups. The plasma metabolic disorder was also associated with a low immune function of the body and endocrine and energy metabolism disorders.

  10. Electrodiagnostic findings in a patient with Waardenburg syndrome.

    Science.gov (United States)

    Ahmed, Aiesha; Simmons, Zachary

    2009-09-01

    Waardenburg syndrome is associated with a variety of clinical features, which may include polyneuropathy. We describe a patient with Waardenburg syndrome type 2 and provide detailed electrodiagnostic findings, thus complementing the biopsy data and brief descriptions of nerve conduction studies found in the literature.

  11. Preliminary assessment of channel stability and bed-material transport along Hunter Creek, southwestern Oregon

    Science.gov (United States)

    Jones, Krista L.; Wallick, J. Rose; O'Connor, Jim E.; Keith, Mackenzie K.; Mangano, Joseph F.; Risley, John C.

    2011-01-01

    This preliminary assessment of (1) bed-material transport in the Hunter Creek basin, (2) historical changes in channel condition, and (3) supplementary data needed to inform permitting decisions regarding instream gravel extraction revealed the following: Along the lower 12.4 km (kilometers) of Hunter Creek from its confluence with the Little South Fork Hunter Creek to its mouth, the river has confined and unconfined segments and is predominately alluvial in its lowermost 11 km. This 12.4-km stretch of river can be divided into two geomorphically distinct study reaches based primarily on valley physiography. In the Upper Study Reach (river kilometer [RKM] 12.4-6), the active channel comprises a mixed bed of bedrock, boulders, and smaller grains. The stream is confined in the upper 1.4 km of the reach by a bedrock canyon and in the lower 2.4 km by its valley. In the Lower Study Reach (RKM 6-0), where the area of gravel bars historically was largest, the stream flows over bed material that is predominately alluvial sediments. The channel alternates between confined and unconfined segments. The primary human activities that likely have affected bed-material transport and the extent and area of gravel bars are (1) historical and ongoing aggregate extraction from gravel bars in the study area and (2) timber harvest and associated road construction throughout the basin. These anthropogenic activities likely have varying effects on sediment transport and deposition throughout the study area and over time. Although assessing the relative effects of these anthropogenic activities on sediment dynamics would be challenging, the Hunter Creek basin may serve as a case study for such an assessment because it is mostly free of other alterations to hydrologic and geomorphic processes such as flow regulation, dredging, and other navigation improvements that are common in many Oregon coastal basins. Several datasets are available that may support a more detailed physical assessment

  12. Digital subtraction angiography in patients with Marfan's syndrome

    International Nuclear Information System (INIS)

    Rauber, K.; Riemann, H.

    1987-01-01

    Marfan's syndrome is a rare inborn error of metabolism. Marfan patients are prone to aneurysms of the ascending aorta and run a high risk of rupture of the aortic arch. The diameter of the aneurysm is the most important predictor of the risk and therefore the leading point for surgical interventions. IV and IA-DSA according to our experiences are simple and effective methods in pre- and postoperative evaluation of patients with the syndrome. (orig.) [de

  13. HiggsHunters - a citizen science project for ATLAS

    CERN Document Server

    Haas, Andrew; The ATLAS collaboration

    2016-01-01

    Since the launch of HiggsHunters.org in November 2014, citizen science volunteers have classified more than a million points of interest in images from the ATLAS experiment at the LHC. Volunteers have been looking for displaced vertices and unusual features in images recorded during LHC Run-1. We discuss the design of the project, its impact on the public, and the surprising results of how the human volunteers performed relative to the computer algorithms in identifying displaced secondary vertices.

  14. JEFX 10 demonstration of Cooperative Hunter Killer UAS and upstream data fusion

    Science.gov (United States)

    Funk, Brian K.; Castelli, Jonathan C.; Watkins, Adam S.; McCubbin, Christopher B.; Marshall, Steven J.; Barton, Jeffrey D.; Newman, Andrew J.; Peterson, Cammy K.; DeSena, Jonathan T.; Dutrow, Daniel A.; Rodriguez, Pedro A.

    2011-05-01

    The Johns Hopkins University Applied Physics Laboratory deployed and demonstrated a prototype Cooperative Hunter Killer (CHK) Unmanned Aerial System (UAS) capability and a prototype Upstream Data Fusion (UDF) capability as participants in the Joint Expeditionary Force Experiment 2010 in April 2010. The CHK capability was deployed at the Nevada Test and Training Range to prosecute a convoy protection operational thread. It used mission-level autonomy (MLA) software applied to a networked swarm of three Raven hunter UAS and a Procerus Miracle surrogate killer UAS, all equipped with full motion video (FMV). The MLA software provides the capability for the hunter-killer swarm to autonomously search an area or road network, divide the search area, deconflict flight paths, and maintain line of sight communications with mobile ground stations. It also provides an interface for an operator to designate a threat and initiate automatic engagement of the target by the killer UAS. The UDF prototype was deployed at the Maritime Operations Center at Commander Second Fleet, Naval Station Norfolk to provide intelligence analysts and the ISR commander with a common fused track picture from the available FMV sources. It consisted of a video exploitation component that automatically detected moving objects, a multiple hypothesis tracker that fused all of the detection data to produce a common track picture, and a display and user interface component that visualized the common track picture along with appropriate geospatial information such as maps and terrain as well as target coordinates and the source video.

  15. Cases of Churg-Strauss syndrome in patients receiving montelukast

    Directory of Open Access Journals (Sweden)

    Petrović Jelena

    2012-01-01

    Full Text Available Churg-Strauss syndrome is a rare disorder, but in patients with asthma it may develop as an adverse effect of the administered drugs. The aim of this study was to investigate possible causal relationship between montelukast and the occurrence of Churg-Strauss syndrome. Medical literature was reviewed by searching the databases 'Medline' and 'Googlescholar', in order to detect published cases of Churg-Strauss syndrome associated with use of montelukast. In this article is included 13 publications which contain the following keywords: montelukast, Churg-Strauss syndrome and side effects. Relationship between use of montelukast and development of Churg-Strauss syndrome was not clearly causal, although montelukast was associated with development and relapse of the syndrome. This fact supports the hypothesis that leukotriene antagonists are involved in the pathogenesis of this serious disease. Special attention should be paid to appearance of new symptoms in an asthmatic patient, already treated with corticosteroids, who start receiving leukotriene antagonists, especially if the dose of corticosteroids is reduced. Definitive confirmation or rejection of the hypothesis that leukotriene antagonists are directly involved in the development of this syndrome require further investigations.

  16. [Fournier syndrome: the perception of the patient].

    Science.gov (United States)

    Cavalini, Fernanda; Moriya, Tokico Murakawa; Pelá, Nilza Teresa Rotter

    2002-06-01

    The purpose of the present investigation was to identify the perception of the Fournier syndrome's patients about their disease and caregivers. Data was collected by means of interviews with a structured routine and the analysis was based on the André's analysis of prose. According to the patients, the syndrome causes intense pain, edema, fever and wounds, demanding surgical treatment, dressings and bringing physical, economical and familiar problems. The caregivers' attitudes and behaviors were described as having more negative aspects than good ones. The necessity of a better training of the caregivers in the cognitive, psychomotor and affective sense is evident.

  17. Liver transplantation in a patient with primary antiphospholipid syndrome and Budd-Chiari syndrome

    Science.gov (United States)

    Reshetnyak, Tatiana M; Seredavkina, Natalia V; Satybaldyeva, Maria A; Nasonov, Evgeniy L; Reshetnyak, Vasiliy I

    2015-01-01

    The antiphospholipid syndrome (APS) is an acquired thrombophilic disorder in which autoantibodies are produced to a variety of phospholipids determinants of cell membranes or phospholipid binding proteins. There are few reports about association between antiphospholipid antibodies and development of Budd-Chiari syndrome (BCS). We report the case of BCS development in young Russian male with primary APS. The patient underwent orthotopic liver transplantation on August 26, 2012. At present time his state is good, the blood flow in the liver restored and its function is not impaired. We report about the first time the successful use of dabigatran etexilate for prolonged anticoagulation therapy in APS patient with BCS. In addition patient is managed with immunosuppressive drugs. PMID:26380049

  18. Co-residence patterns in hunter-gatherer societies show unique human social structure.

    Science.gov (United States)

    Hill, Kim R; Walker, Robert S; Bozicević, Miran; Eder, James; Headland, Thomas; Hewlett, Barry; Hurtado, A Magdalena; Marlowe, Frank; Wiessner, Polly; Wood, Brian

    2011-03-11

    Contemporary humans exhibit spectacular biological success derived from cumulative culture and cooperation. The origins of these traits may be related to our ancestral group structure. Because humans lived as foragers for 95% of our species' history, we analyzed co-residence patterns among 32 present-day foraging societies (total n = 5067 individuals, mean experienced band size = 28.2 adults). We found that hunter-gatherers display a unique social structure where (i) either sex may disperse or remain in their natal group, (ii) adult brothers and sisters often co-reside, and (iii) most individuals in residential groups are genetically unrelated. These patterns produce large interaction networks of unrelated adults and suggest that inclusive fitness cannot explain extensive cooperation in hunter-gatherer bands. However, large social networks may help to explain why humans evolved capacities for social learning that resulted in cumulative culture.

  19. Basal Cell Carcinomas in Gorlin Syndrome: A Review of 202 Patients

    Directory of Open Access Journals (Sweden)

    Elizabeth A. Jones

    2011-01-01

    Full Text Available Gorlin syndrome (Naevoid Basal Cell Carcinoma Syndrome is a rare autosomal dominant syndrome caused by mutations in the PTCH gene with a birth incidence of approximately 1 in 19,000. Patients develop multiple basal cell carcinomas of the skin frequently in early life and also have a predisposition to additional malignancies such as medulloblastoma. Gorlin Syndrome patients also have developmental defects such as bifid ribs and other complications such as jaw keratocysts. We studied the incidence and frequency of basal cell carcinomas in 202 Gorlin syndrome patients from 62 families and compared this to their gender and mutation type. Our data suggests that the incidence of basal cell carcinomas is equal between males and females and the mutation type cannot be used to predict disease burden.

  20. Orbital phlebography in patients with Tolosa-Hunt's syndrome in comparison with normal subjects

    International Nuclear Information System (INIS)

    Hannerz, J.; Ericson, K.; Bergstrand, G.; Karolinska Sjukhuset, Stockholm

    1984-01-01

    Orbital phlebography has been reported to be pathologic in some patients with Tolosa-Hunt's syndrome (recurrent painful ophthalmoplegia). A systematic study of the phlebographic findings in Tolosa-Hunt's syndrome in comparison with a normal material seems not to have been performed. In this investigation, orbital phlebography was performed in 19 patients with Tolosa-Hunt's syndrome and in a reference group of 23 persons without the disease. In 13 of 19 patients (68%) with Tolosa-Hunt's syndrome, the phlebography was pathologic (narrowing or occlusion of particularly the third segment of the superior ophthalmic vein, partial occlusion of the cavernous sinus). Orbital phlebography was normal in all but one of the subjects in the reference group. The medical history of this subject in retrospect revealed symptoms other than painful ophthalmoplegia commonly found in patients with Tolosa-Hunt's syndrome, suggesting that he suffered from a variant of the disease causing the syndrome. In one patient with recurrent painful ophthalmoplegia a biopsy from an eye muscle showed venous vasculitis, probably indicating the basic pathology behind the phlebographic changes in patients with Tolosa-Hunt's syndrome. (orig.)

  1. Serum Progranulin Levels in Type 2 Diabetic Patients with Metabolic Syndrome.

    Science.gov (United States)

    Shafaei, Azam; Marjani, Abdoljalal; Khoshnia, Masoud

    2016-12-01

    The role of progranulin in individuals with metabolic syndrome is not exactly clear.We aimed to assess the serum level of progranulin in type 2 diabetic patients with and without metabolic syndrome and compare them with healthy controls. The study included 60 patients with type 2 diabetes and 30 healthy individuals as control groups. Biochemical parameters and progranulin levels were determined. Subjects with metabolic syndrome showed significantly higher levels of triglyceride, waist circumference, BMI, systolic and diastolic blood pressure than subjects without metabolic syndrome and the control groups, while HDL-cholesterol level was significantly lower in subjects with metabolic syndrome. Fasting blood sugar was significantly higher in type 2 diabetic patients than in the control groups. Serum level of progranulin was slightly increased in subjects with metabolic syndrome. Serum progranulin level had no significant relationship with metabolic syndrome components. Serum progranulin was also not dependent on cardiometabolic risk factors for subjects with metabolic syndrome, but it could be considered for the management of type 2 diabetes mellitus. Further studies are recommended to explain the effect of progranulin on the pathogenesis of metabolic risk factors.

  2. Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome.

    Science.gov (United States)

    Kratz, C P; Holter, S; Etzler, J; Lauten, M; Pollett, A; Niemeyer, C M; Gallinger, S; Wimmer, K

    2009-06-01

    Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterised by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1). Alluding to the underlying genetic defect, we refer to this syndrome as constitutional mismatch repair-deficiency (CMMR-D) syndrome. The tumour spectrum of CMMR-D syndrome includes haematological neoplasias, brain tumours and Lynch syndrome-associated tumours. Other tumours, such as neuroblastoma, Wilm tumour, ovarian neuroectodermal tumour or infantile myofibromatosis, have so far been found only in individual cases. We analysed two consanguineous families that had members with suspected CMMR-D syndrome who developed rhabdomyosarcoma among other neoplasias. In the first family, we identified a pathogenic PMS2 mutation for which the affected patient was homozygous. In family 2, immunohistochemistry analysis showed isolated loss of PMS2 expression in all tumours in the affected patients, including rhabdomyosarcoma itself and the surrounding normal tissue. Together with the family history and microsatellite instability observed in one tumour this strongly suggests an underlying PMS2 alteration in family 2 also. Together, these two new cases show that rhabdomyosarcoma and possibly other embryonic tumours, such as neuroblastoma and Wilm tumour, belong to the tumour spectrum of CMMR-D syndrome. Given the clinical overlap of CMMR-D syndrome with NF1, we suggest careful examination of the family history in patients with embryonic tumours and signs of NF1 as well as analysis of the tumours for loss of one of the mismatch repair genes and microsatellite instability. Subsequent mutation analysis will lead to a definitive diagnosis of the underlying disorder.

  3. Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.

    Science.gov (United States)

    Alfei, Enrico; Raviglione, Federico; Franceschetti, Silvana; D'Arrigo, Stefano; Milani, Donatella; Selicorni, Angelo; Riva, Daria; Zuffardi, Orsetta; Pantaleoni, Chiara; Binelli, Simona

    2014-12-01

    Epilepsy is one of the most common findings in chromosome aberrations. Types of seizures and severity may significantly vary both between different conditions and within the same aberration. Hitherto specific seizures and EEG patterns are identified for only few syndromes. We studied 74 patients with defined genetic-dysmorphic syndromes with and without epilepsy in order to assess clinical and electroencephalographic features, to compare our observation with already described electro-clinical phenotypes, and to identify putative electroencephalographic and/or seizure characteristics useful to address the diagnosis. In our population, 10 patients had chromosomal disorders, 19 microdeletion or microduplication syndromes, and 32 monogenic syndromes. In the remaining 13, syndrome diagnosis was assessed on clinical grounds. Our study confirmed the high incidence of epilepsy in genetic-dysmorphic syndromes. Moreover, febrile seizures and neonatal seizures had a higher incidence compared to general population. In addition, more than one third of epileptic patients had drug-resistant epilepsy. EEG study revealed poor background organization in 42 patients, an excess of diffuse rhythmic activities in beta, alpha or theta frequency bands in 34, and epileptiform patterns in 36. EEG was completely normal only in 20 patients. No specific electro-clinical pattern was identified, except for inv-dup15, Angelman, and Rett syndromes. Nevertheless some specific conditions are described in detail, because of notable differences from what previously reported. Regarding the diagnostic role of EEG, we found that--even without any epileptiform pattern--the generation of excessive rhythmic activities in different frequency bandwidths might support the diagnosis of a genetic syndrome. © 2014 Wiley Periodicals, Inc.

  4. Cyclic Bicytopenia in a Patient with Shapiro Syndrome

    Directory of Open Access Journals (Sweden)

    Lindsey E. Roeker

    2013-01-01

    Full Text Available Shapiro syndrome and periodic hypothermia have been reported approximately fifty times in the literature. Shapiro syndrome is defined as the constellation of periodic hypothermia and hyperhidrosis along with agenesis of the corpus callosum by Shapiro et al. in 1969. Periodic hypothermia is a more broad diagnosis with a number of proposed mechanisms; it occurs in patients without structural brain abnormalities. Hematologic abnormalities beyond iron-deficiency anemia have not been documented in any of the reported cases of Shapiro syndrome or periodic hypothermia. Though accidental and therapeutic hypothermia have been associated with thrombocytopenia, this is, to our knowledge, the first reported case of periodic intrinsic hypothermia causing bicytopenia. In this report, we present the case of a patient with Shapiro syndrome who experienced cyclic bicytopenia mirroring hypothermic episodes. We address the differential diagnosis of bicytopenia, review the mechanisms proposed for cytopenias related to hypothermia, and propose possible mechanisms for the finding in this case.

  5. Reduced apolipoprotein glycosylation in patients with the metabolic syndrome.

    Directory of Open Access Journals (Sweden)

    Olga V Savinova

    Full Text Available The purpose of this study was to compare the apolipoprotein composition of the three major lipoprotein classes in patients with metabolic syndrome to healthy controls.Very low density (VLDL, intermediate/low density (IDL/LDL, hereafter LDL, and high density lipoproteins (HDL fractions were isolated from plasma of 56 metabolic syndrome subjects and from 14 age-sex matched healthy volunteers. The apolipoprotein content of fractions was analyzed by one-dimensional (1D gel electrophoresis with confirmation by a combination of mass spectrometry and biochemical assays.Metabolic syndrome patients differed from healthy controls in the following ways: (1 total plasma--apoA1 was lower, whereas apoB, apoC2, apoC3, and apoE were higher; (2 VLDL--apoB, apoC3, and apoE were increased; (3 LDL--apoC3 was increased, (4 HDL--associated constitutive serum amyloid A protein (SAA4 was reduced (p<0.05 vs. controls for all. In patients with metabolic syndrome, the most extensively glycosylated (di-sialylated isoform of apoC3 was reduced in VLDL, LDL, and HDL fractions by 17%, 30%, and 25%, respectively (p<0.01 vs. controls for all. Similarly, the glycosylated isoform of apoE was reduced in VLDL, LDL, and HDL fractions by 15%, 26%, and 37% (p<0.01 vs. controls for all. Finally, glycosylated isoform of SAA4 in HDL fraction was 42% lower in patients with metabolic syndrome compared with controls (p<0.001.Patients with metabolic syndrome displayed several changes in plasma apolipoprotein composition consistent with hypertriglyceridemia and low HDL cholesterol levels. Reduced glycosylation of apoC3, apoE and SAA4 are novel findings, the pathophysiological consequences of which remain to be determined.

  6. Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome.

    Science.gov (United States)

    Nair, Sushmita; Fort, John A; Yachnis, Anthony T; Williams, Charles A

    2015-06-01

    Noonan syndrome (NS; MIM 163950) is an autosomal dominant syndrome which is clinically diagnosed by the distinct facial features, short stature, cardiac anomalies and developmental delay. About 50% of cases are associated with gain of function mutations in PTPN11 gene which leads to activation of the RAS/mitogen-activated protein kinase signaling pathway. This is known to have a role in tumorigenesis. Despite this, only limited reports of solid tumors (Fryssira H, Leventopoulos G, Psoni S, et al. Tumor development in three patients with Noonan syndrome. Eur J Pediatr 2008;167:1025-1031; Schuettpelz LG, McDonald S, Whitesell K et al. Pilocytic astrocytoma in a child with Noonan syndrome. Pediatr Blood Cancer 2009;53:1147-1149; Sherman CB, Ali-Nazir A, Gonzales-Gomez I, et al. Primary mixed glioneuronal tumor of the central nervous system in a patient with Noonan syndrome. J Pediatr Hematol Oncol 2009;31:61-64; Sanford RA, Bowman R, Tomita T, et al. A 16 year old male with Noonan's syndrome develops progressive scoliosis and deteriorating gait. Pediatr Neurosurg 1999;30:47-52) and no prior reports of optic gliomas have been described in patients with NS. We present here a patient with NS with a PTPN11 mutation and an optic pathway pilomyxoid astrocytoma. © 2015 Wiley Periodicals, Inc.

  7. AllerHunter: a SVM-pairwise system for assessment of allergenicity and allergic cross-reactivity in proteins.

    Directory of Open Access Journals (Sweden)

    Hon Cheng Muh

    Full Text Available Allergy is a major health problem in industrialized countries. The number of transgenic food crops is growing rapidly creating the need for allergenicity assessment before they are introduced into human food chain. While existing bioinformatic methods have achieved good accuracies for highly conserved sequences, the discrimination of allergens and non-allergens from allergen-like non-allergen sequences remains difficult. We describe AllerHunter, a web-based computational system for the assessment of potential allergenicity and allergic cross-reactivity in proteins. It combines an iterative pairwise sequence similarity encoding scheme with SVM as the discriminating engine. The pairwise vectorization framework allows the system to model essential features in allergens that are involved in cross-reactivity, but not limited to distinct sets of physicochemical properties. The system was rigorously trained and tested using 1,356 known allergen and 13,449 putative non-allergen sequences. Extensive testing was performed for validation of the prediction models. The system is effective for distinguishing allergens and non-allergens from allergen-like non-allergen sequences. Testing results showed that AllerHunter, with a sensitivity of 83.4% and specificity of 96.4% (accuracy = 95.3%, area under the receiver operating characteristic curve AROC = 0.928+/-0.004 and Matthew's correlation coefficient MCC = 0.738, performs significantly better than a number of existing methods using an independent dataset of 1443 protein sequences. AllerHunter is available at (http://tiger.dbs.nus.edu.sg/AllerHunter.

  8. Metabolic syndrome in patients with ischemic heart disease

    International Nuclear Information System (INIS)

    Yasmin, S.; Naveed, T.; Shakoor, T.

    2008-01-01

    To determine the frequency of metabolic syndrome in patients with Ischemic Heart Disease (IHD). Cross-sectional, descriptive study. A total of 100 subjects with ischemic heart disease, fulfilling the inclusion criteria, were enrolled in the study. Demographic data (age and gender) and the 5 component conditions of the metabolic syndrome were noted. Subjects were physically assessed for the abdominal obesity, based on waist circumference. Fasting blood samples for glucose and lipid profile in first 24 hours after acute coronary insult were drawn and tested in central laboratory. Variables were processed for descriptive statistics. In this study population, 68% were male and 32% were female with mean age of 52 +-13.6 years in men and 56 +- 12.5 years in women. Frequency of metabolic syndrome was 32% in men and 28% in women. It increased with age. The highest rate of metabolic syndrome was in men diagnosed as STEMI (odds ratio: 3.39, 95% CI=1.36-8.41). Frequency of metabolic syndrome was high among the patients with IHD. It supports the potential for preventive efforts in persons with high-risk of IHD. (author)

  9. Peters' plus syndrome in an Egyptian patient with some unusual ...

    African Journals Online (AJOL)

    Some of the features reported in Kabuki make-up syndrome were also present in our patient including mainly hepatomegaly and craniosynostosis. However in our patient some features were present not reported before in both syndromes including thick tounge, thick everted lower lip, anteverted naris, broad thumb and big ...

  10. One patient with Sjogren’s syndrome presenting schizophrenia-like symptoms

    Directory of Open Access Journals (Sweden)

    Lin CE

    2016-03-01

    Full Text Available Ching-En Lin1,2 1Department of Psychiatry, Taipei Tzu-Chi Hospital, Buddhist Medical Foundation, Taiwan, Republic of China; 2School of Medicine, Tzu-Chi University, Hualien, Taiwan, Republic of China Abstract: Comorbid depression in patients with Sjogren’s syndrome has been reported frequently, while comorbid psychosis in subjects with Sjogren’s syndrome has rarely been reported. Here we report a patient with Sjogren’s syndrome who presented with schizophrenia-like symptoms such as persecutory delusions and auditory hallucinations in contrast to her previous psychiatric presentations, which only included depression and anxiety. Keywords: mental illness, psychosis, Sjogren’s syndrome, schizophrenia

  11. Work ability index, absenteeism and depression among patients with burnout syndrome.

    Science.gov (United States)

    Pranjic, Nurka; Males-Bilic, Ljiljana

    2014-08-01

    The aim of this study is to estimate the association of burnout syndrome and depression; burnout syndrome and sick leave; and burnout syndrome with Work Ability Index in patients who suffer from stress at work. The control clinical study was conducted in the Teaching Department for Professional Pathology and Toxicology at the Primary Health Care Center Tuzla in the period from 2009 to 2014. The study included 140 patients exposed to different levels of stress at work. Besides conducted interviews and anamnesis with working anamnesis, physical examination, all patients were subjected to diagnostic package of questionnaires for assessing exposure to stress at work and its effects on health and work ability and Hamilton Rating Scale for screening depression. All patients were referred to the Department with suspected distress and burnout syndrome. For this study we used a questionnaire for measuring intensity of burnout (two categories exclude suffering from burnout syndrome: successfully overcome stress at work and sometimes feel stress at work and the other two reveal the initial and very high burn-out syndrome. Studied group was consisted of patients categorized with burnout syndrome (n=88). The questionnaire on the Work Ability Index (WAI) estimated characteristics of sick leave and prognostic factors with current work ability index. Lack of support at work with poor personal relations is the most common factor with the mobbing in burnout syndrome. Significantly more patients with the burnout syndrome suffered very severe depression 49%:37%; more use long sick leaves 53%:21%; several of them have poor WAI 51%:31% compared to those who are only exposed to stress at work (p=0.001). We found that the burn-out syndrome is predictor for developing depression (β=0.312, 95% CI, 0.114-0.353, p=0.001); absenteeism (β=0.285, 95% CI, 0.093-0.334, p=0.001); and a decline in working ability (β=0.413, 95% CI, 0.297-0.648). All the patients in whom it is found burnout

  12. Comparison of metabolic syndrome prevalence in patients with schizophrenia and bipolar I disorder.

    Science.gov (United States)

    Nayerifard, Razieh; Bureng, Majid Akbari; Zahiroddin, Alireza; Namjoo, Massood; Rajezi, Sepideh

    2017-11-01

    Research has shown that the metabolic syndrome is more prevalent among patients with schizophrenia or bipolar I disorder. Given the scarcity of research on the disorders, this paper aims to compare the prevalence of the syndrome among the two groups of patients. A total of 120 individuals participated in this cross sectional study: 60 patients with schizophrenia (26 males and 34 females) and 60 patients with bipolar I disorder (32 males and 28 females). The psychological disorders were diagnosed by some experienced psychiatrists according to the DSM-V. Furthermore, metabolic syndrome was diagnosed according to ATP III guidelines. Metabolic syndrome prevalence among schizophrenic and bipolar I patients was 28 and 36 percent, respectively; the disparity in prevalence is not significant. According to the results, compared to their male counterparts, females were more prone significant to metabolic syndrome. Moreover, diastolic blood pressure was significantly higher among bipolar I patients. On the other hand, schizophrenic males were observed to have higher fasting blood sugar levels in comparison to bipolar I males patients. Age, consumption of second generation antipsychotics or antidepressants, and the duration of the disorder were found to be related to metabolic syndrome. This study showed that metabolic syndrome is not more prevalent among bipolar I patients, compared to those with schizophrenia. Also, women are more likely to be affected by the syndrome. A number of factors such as age, consumption of medication, and duration of the disorder are associated with the likelihood of the syndrome. Copyright © 2017. Published by Elsevier Ltd.

  13. Association and pattern of diastolic dysfunction in patients of metabolic syndrome

    International Nuclear Information System (INIS)

    Khan, A.R.; Khan, M.Q.

    2008-01-01

    Diastolic dysfunction is important predictor of morbidity and mortality in patients with metabolic syndrome. This prospective study is to evaluate an association and pattern of diastolic dysfunction in patients of metabolic syndrome in our population. This cross-sectional study was performed at Armed Forces Institute of Cardiology Rawalpindi for a period of 6 months from 20th November 2007 to 20th April 2008. One hundred eligible and consenting patients having metabolic syndrome reporting in the OPD were registered. Inclusion criteria included patients of metabolic syndrome with negative ETT and normal systolic function. Exclusion criteria were patients with age above 60 years and valvular heart disease. Data was collected by a structured clinical interview with a physician, ECG and a transthoracic M-mode, 2D and TDI echocardiogram. The metabolic syndrome was defined according to International Diabetes Federation. There was a positive association between the degree of the metabolic syndrome-assessed as number of concurrently present components-and parameters of cardiac structure and function, with a consistent and statistically significant trend for all cardiac variables considered(p=0.000). There was also a positive association between each parameter and the cardiac diastolic dysfunction grading, e.g., systolic blood pressure (p=0.000), diastolic blood pressure (p=0.005), waist circumference (p=0.004), fasting blood sugar (p=0.008), triglycerides (p=0.006), HDL cholesterol (p=0.001). Several cardiac functional abnormalities regardless of symptoms increased progressively with increasing degree of metabolic syndrome. (author)

  14. Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

    Science.gov (United States)

    Choi, Jin-Ho; Oh, Moon-Yeon; Yum, Mi-Sun; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

    2015-03-01

    Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks. A 6-year-old girl was diagnosed with Noonan-like syndrome with loose anagen hair because of profound short stature and ectodermal anomalies such as sparse and easily pluckable hair. A heterozygous mutation of c.4A>G (p.S2G) in the SHOC2 gene was identified, and recombinant human growth hormone therapy was initiated at 8 years of age. At age 10, she manifested recurrent left hemiplegia. Moreover, cerebrovascular imaging revealed occlusion or narrowing of both internal carotid arteries and both middle cerebral arteries with distal moyamoya-like vessels. She is treated with aspirin and calcium channel blocker. We describe the first case of Noonan-like syndrome with loose anagen hair associated with moyamoya syndrome, although it has been reported to be associated with a few cases of other RASopathies, including Noonan, cardiofaciocutaneous, and Costello syndromes. This report emphasizes the associations between cerebrovascular anomalies and Noonan-like syndrome with loose anagen hair. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. 17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.

    Science.gov (United States)

    Dixit, Abhijit; Patel, Chirag; Harrison, Rachel; Jarvis, Joanna; Hulton, Sally; Smith, Nigel; Yates, Katherine; Silcock, Lee; McMullan, Dominic J; Suri, Mohnish

    2012-09-01

    Deletions of 17q12 are associated with renal cysts and maturity onset diabetes of the young, and have also been identified in women with reproductive tract anomalies due to Mullerian aplasia. Although initially identified in patients with normal cognitive ability, some patients with this recurrent microdeletion syndrome have learning problems. We identified a 17q12 microdeletion in three patients with renal cystic disease by array comparative genomic hybridization and the phenotypic spectrum of the 17q12 microdeletion syndrome is illustrated by the description of these patients. Of two patients who are old enough to be assessed, one has significant speech delay, autism spectrum disorder, and mild learning difficulty, while the other patient has only mild speech delay. This highlights the variability of cognitive involvement in this condition. The third patient presented with Alagille syndrome-like features in the neonatal period. All three patients had transient hypercalcemia in the neonatal period, a finding that has not previously been described in this condition. Moreover, two patients have mild or no dysmorphism, while one displays striking facial dysmorphism in addition to minor congenital anomalies. We suggest that while patients with 17q12 microdeletion syndrome can present with type 2 diabetes or renal cysts without any dysmorphic features, a subgroup may have dysmorphic features or present with neonatal cholestasis. Transient neonatal hypercalcemia may be a feature of this microdeletion syndrome. Copyright © 2012 Wiley Periodicals, Inc.

  16. SUBCLINICAL HYPOTHYROIDISM IN METABOLIC SYNDROME AND ROLE OF CRP IN 50 ADULT PATIENTS

    Directory of Open Access Journals (Sweden)

    Pratik Shah

    2017-04-01

    Full Text Available BACKGROUND Metabolic Syndrome (MetS is generally characterised as a clustering of the abnormal levels of blood lipids (low HDL and high triglycerides, impaired fasting glucose, elevated blood pressure, and excess abdominal obesity. The objectives of the study areTo evaluate presence of Subclinical Hypothyroidism in the study population of the patients with metabolic syndrome. To find out relation between Subclinical Hypothyroidism and different parameters of metabolic syndrome. To evaluate whether patients of metabolic syndrome with raised hs-CRP have an increased risk of having hypothyroidism. MATERIALS AND METHODS A total of 50 adult patients who met with inclusion criteria were selected. Patients with metabolic syndrome (MetS who fulfilled the NCEP-ATP III criteria: 3 out of 5 criteria positive. Patients with liver disorders, renal disorders, congestive cardiac failure, pregnant women, patients on oral contraceptive pills, statins and other medications that alter thyroid functions (e.g. lithium, amiodarone or γ-interferon were excluded from the study. RESULTS A total of 50 patients of metabolic syndrome were enrolled. Out of which 36 were euthyroid, 3 were overt hypothyroid and 11 were subclinical hypothyroid. Out of 11 patients of subclinical hypothyroidism, 9 were female and 2 were male patients. Out of 28 females, 9 (32% were SCH while out of 22 males, 2 (9% were SCH. Out of 50 patients, 3 were overt hypothyroid. All 3 patients had BP >130/85, waist circumference was >88 cm and HDL of 130/85, HDL 150 mg/dL and fasting blood glucose of >100 mg/dL were more associated with male patients. CONCLUSION Subclinical Hypothyroidism was present in 22% of study population and more so in females having metabolic syndrome (32%. Hence, it will be worthwhile to screen female metabolic syndrome patients for thyroid function abnormality. Abnormal blood pressure, triglycerides and HDL cholesterol levels were more associated with subclinical hypothyroidism

  17. Dental management of patient with Williams Syndrome - A case report.

    Science.gov (United States)

    Wong, Daniel; Ramachandra, Srinivas Sulugodu; Singh, Ashish Kumar

    2015-01-01

    Williams syndrome is a multisystemic rare genetic disorder caused by deletion of 26-28 genes in the long arm of chromosome 7. It is characterized by developmental and physical abnormalities including congenital cardiovascular abnormalities, mental retardation, neurological features, growth deficiency, genitourinary manifestations, gastrointestinal problems, musculoskeletal problems, unique behavioral characteristics, and dental problems. Dental abnormalities include malocclusion, hypodontia, malformed teeth, taurodontism, pulp stones, increased space between teeth, enamel hypoplasia, and high prevalence of dental caries. Authors report a 17-year-old female patient with underlying Williams syndrome. Oral features and problems seen in the patient are listed. Malocclusion and screwdriver shaped teeth were noticed. Generalized widening of the periodontal ligament space with vital teeth was seen. This finding has not been reported in cases of Williams syndrome earlier. Precautions taken during dental treatment in patients with Williams syndrome are also discussed.

  18. Metabolic syndrome in patients with prostate cancer undergoing intermittent androgen-deprivation therapy.

    Science.gov (United States)

    Rezaei, Mohammadali Mohammadzadeh; Rezaei, Mohammadhadi Mohammadzadeh; Ghoreifi, Alireza; Kerigh, Behzad Feyzzadeh

    2016-01-01

    The presence of metabolic syndrome in men with prostate cancer (PCa) undergoing androgen-deprivation therapy (ADT), especially intermittent type, has not been completely evaluated. The aim of this study is to evaluate metabolic syndrome in men with PCa undergoing intermittent ADT. In this longitudinal study, we studied the prevalence of metabolic syndrome and its components in 190 patients who were undergoing intermittent ADT. The metabolic syndrome was defined according to the Adult Treatment Panel III criteria. All metabolic parameters, including lipid profile, blood glucose, blood pressures, and waist circumferences of the patients were measured six and 12 months after treatment. Mean age of the patients was 67.5 ± 6.74 years. The incidence of metabolic syndrome after six and 12 months was 6.8% and 14.7%, respectively. Analysis of various components of the metabolic syndrome revealed that patients had significantly higher overall prevalence of hyperglycemia, abdominal obesity, and hypertriglyceridemia in their six- and 12-month followups, but blood pressure has not been changed in the same period except for diastolic blood pressure after six months. Although there was an increased risk of metabolic syndrome in patients receiving intermittent ADT, it was lower than other studies that treated the same patients with continuous ADT. Also it seems that intermittent ADT has less metabolic complications than continuous ADT and could be used as a safe alternative in patients with advanced and metastatic PCa.

  19. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.

    Science.gov (United States)

    Maas, S M; Lombardi, M P; van Essen, A J; Wakeling, E L; Castle, B; Temple, I K; Kumar, V K A; Writzl, K; Hennekam, Raoul C M

    2009-10-01

    Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome. A series of 17 patients with Goltz-Gorlin syndrome is reported on, and their phenotype and genotype are described. In 14 patients (13 females and one male), a PORCN mutation was found. Mutations included nonsense (n = 5), frameshift (n = 2), aberrant splicing (n = 2) and missense (n = 5) mutations. No genotype-phenotype correlation was found. All patients with the classical features of the syndrome had a detectable mutation. In three females with atypical signs, no mutation was found. The male patient had classical features and showed mosaicism for a PORCN nonsense mutation in fibroblasts. Two affected sisters had a mutation not detectable in their parents, supporting germline mosaicism. Their father had undergone radiation for testicular cancer in the past. Two classically affected females had three severely affected female fetuses which all had midline thoracic and abdominal wall defects, resembling the pentalogy of Cantrell and the limb-body wall complex. Thoracic and abdominal wall defects were also present in two surviving patients. PORCN mutations can possibly cause pentalogy of Cantrell and limb-body wall complexes as well. Therefore, particularly in cases with limb defects, it seems useful to search for these. PORCN mutations can be found in all classically affected cases of Goltz-Gorlin syndrome, including males. Somatic and germline mosaicism occur. There is no evident genotype-phenotype correlation.

  20. Acute coronary syndrome in a patient with Marfan syndrome following emergent surgical repair of aortic dissection.

    Science.gov (United States)

    Bovolato, Francesca Elisa; Isabella, Giambattista; Rampazzo, Debora; Guglielmi, Cosimo; Gerosa, Gino; Iliceto, Sabino; Bilato, Claudio

    2008-06-01

    We report a case of acute coronary syndrome in a patient with suspect Marfan syndrome, 25 days after emergent modified Bentall-De Bono intervention for acute type I peripartum aortic dissection. She was admitted to our intensive care unit because of unstable angina, caused by critical blood flow reduction in a large portion of the myocardium, according to the severity of the symptoms and the electrocardiographic alterations. Coronary angiography showed a sub-occlusive stenosis of the left main coronary artery as a result of the dissection extension to the coronary ostium. Because of the high risk related to heart surgery, the patient was successfully treated by unprotected angioplasty and drug-eluting stent positioning. Short- and mid-term outcomes were favourable. Subsequent tests confirmed the diagnosis of Marfan syndrome. After 2 years of follow-up, the patient remains asymptomatic and in good health. To our knowledge, this is the first report of a successful percutaneous intervention of the left main coronary artery in a patient with Marfan syndrome who had already undergone ascending aortic root and valve replacement by the Bentall-De Bono procedure for acute dissection.

  1. Wernicke-Korsakoff syndrome in patients with cancer: a systematic review.

    Science.gov (United States)

    Isenberg-Grzeda, Elie; Rahane, Sudhanshu; DeRosa, Antonio P; Ellis, Janet; Nicolson, Stephen E

    2016-04-01

    Wernicke-Korsakoff syndrome in patients with cancer is understudied. Much of what is known-that significant under-recognition and delays in treatment exist-comes from studies of alcohol misuse disorders or non-alcohol-related Wernicke-Korsakoff syndrome in patients. We investigated the frequency and associated features of cancer-related Wernicke-Korsakoff syndrome in the published literature. We included 90 articles reporting on 129 patients. Only 38 (30%) of 128 patients with data available exhibited the entire triad of classic features of Wernicke-Korsakoff syndrome: confusion, ataxia, and ophthalmoplegia or nystagmus. Diagnosis during life was missed altogether in 22 (17%) of 128 patients. The operational diagnostic criteria (at least two of the following: nutritional deficiency, ocular signs, cerebellar signs, and either altered mental status or mild memory impairment), which are considered more reliable than the classical triad, were used in only nine (7%) cases, yet 120 (94%) met the operational criteria for diagnosis at the time of presentation when applied retroactively. Complete recovery was reported in only 47 (36%) cases. Given that oncologists or haematologists accounted for only 17 (19%) first authors among the articles included, it is important that oncologists are aware of the risk factors for cancer-related Wernicke-Korsakoff syndrome, and that they are vigilant about diagnosing and treating the disease especially in the absence of alcohol misuse disorders. Copyright © 2016 Elsevier Ltd. All rights reserved.

  2. Prevalence of metabolic syndrome and its association with depression in patients with schizophrenia

    Directory of Open Access Journals (Sweden)

    Suttajit S

    2013-07-01

    Full Text Available Sirijit Suttajit, Sutrak PilakantaDepartment of Psychiatry, Faculty of Medicine, Chiang Mai University, Chiang Mai, ThailandPurpose: To identify the point prevalence of metabolic syndrome in patients with schizophrenia and to evaluate the association between depressive symptoms and metabolic syndrome in patients with schizophrenia.Patients and methods: Metabolic syndrome was assessed based on an updated definition derived from the modified National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP III and the International Diabetes Federation criteria. The 17-item Hamilton Depression Rating Scale (HDRS-17 was used to measure depressive symptoms in 80 patients with schizophrenia. Odds ratios and 95% confidence intervals were calculated using logistic regression for the association between each depressive symptom and metabolic syndrome.Results: The point prevalence rates of metabolic syndrome according to the modified NCEP-ATP III and International Diabetes Federation criteria were 37% and 35%, respectively. The risk of having metabolic syndrome significantly increased in those who were widowed or separated, or had longer duration of illness. Central obesity was the metabolic feature with the highest odds ratios for metabolic syndrome at 19.3. Three out of 17 items of HDRS subscales were found to be significantly associated with metabolic syndrome, including depressed mood, middle insomnia, and retardation with the odds ratios of 3.0, 3.4, and 3.6, respectively.Conclusion: This study showed that the prevalence of metabolic syndrome in patients with schizophrenia was higher than the overall rate but was slightly lower than in the general population in the USA. Central obesity, measured by waist circumference, was found to be highly correlated with metabolic syndrome. Depressed mood, middle insomnia, and retardation were significantly associated with metabolic syndrome in patients with schizophrenia. Waist circumference and screening

  3. Cardiovascular Risk Stratification in Patients with Metabolic Syndrome Without Diabetes or Cardiovascular Disease: Usefulness of Metabolic Syndrome Severity Score.

    Science.gov (United States)

    Masson, Walter; Epstein, Teo; Huerín, Melina; Lobo, Lorenzo Martín; Molinero, Graciela; Angel, Adriana; Masson, Gerardo; Millán, Diana; De Francesca, Salvador; Vitagliano, Laura; Cafferata, Alberto; Losada, Pablo

    2017-09-01

    The estimated cardiovascular risk determined by the different risk scores, could be heterogeneous in patients with metabolic syndrome without diabetes or vascular disease. This risk stratification could be improved by detecting subclinical carotid atheromatosis. To estimate the cardiovascular risk measured by different scores in patients with metabolic syndrome and analyze its association with the presence of carotid plaque. Non-diabetic patients with metabolic syndrome (Adult Treatment Panel III definition) without cardiovascular disease were enrolled. The Framingham score, the Reynolds score, the new score proposed by the 2013 ACC/AHA Guidelines and the Metabolic Syndrome Severity Calculator were calculated. Prevalence of carotid plaque was determined by ultrasound examination. A Receiver Operating Characteristic analysis was performed. A total of 238 patients were enrolled. Most patients were stratified as "low risk" by Framingham score (64%) and Reynolds score (70.1%). Using the 2013 ACC/AHA score, 45.3% of the population had a risk ≥7.5%. A significant correlation was found between classic scores but the agreement (concordance) was moderate. The correlation between classical scores and the Metabolic Syndrome Severity Calculator was poor. Overall, the prevalence of carotid plaque was 28.2%. The continuous metabolic syndrome score used in our study showed a good predictive power to detect carotid plaque (area under the curve 0.752). In this population, the calculated cardiovascular risk was heterogenic. The prevalence of carotid plaque was high. The Metabolic Syndrome Severity Calculator showed a good predictive power to detect carotid plaque.

  4. Disease-specific quality of life in young patients with tourette syndrome.

    Science.gov (United States)

    Cavanna, Andrea E; Luoni, Chiara; Selvini, Claudia; Blangiardo, Rosanna; Eddy, Clare M; Silvestri, Paola R; Calì, Paola V; Gagliardi, Emanuela; Balottin, Umberto; Cardona, Francesco; Rizzo, Renata; Termine, Cristiano

    2013-02-01

    Tourette syndrome is a neurodevelopmental disorder characterized by multiple tics and is often associated with comorbid behavioral problems. Research with generic instruments in child populations showed that comorbid disorders can have a greater impact on health-related quality of life than tic severity. This study investigated the usefulness of a newly developed disease-specific instrument, the Gilles de la Tourette Syndrome-Quality of Life Scale for Children and Adolescents (GTS-QOL-C&A), in assessing health-related quality of life in young patients with Tourette syndrome with and without behavioral comorbidity. We recruited 75 patients with Tourette syndrome (60 males; age 12.4 ± 3.2 years). All participants were evaluated by a neuropsychiatrist and completed a standardized psychometric battery, including the GTS-QOL-C&A, Child Depression Inventory, and Multidimensional Anxiety Scale for Children. Forty-two patients (56%) fulfilled diagnostic criteria for at least one comorbidity: obsessive-compulsive disorder (n = 25 patients [33.3%]); attention deficit/hyperactivity disorder (n = 6 patients [8%]); both (n = 11 patients [14.7%]). The GTS-QOL-C&A demonstrated usefulness in differentiating "pure" Tourette syndrome from Tourette syndrome "plus" behavioral problems with regard to health-related quality of life scores for the obsessive-compulsive subscale. In addition to focusing on core tic symptoms, the GTS-QOL-C&A showed sensitivity to the impact of behavioral comorbidities on health-related quality of life and can usefully complement existing nonspecific instruments. Copyright © 2013 Elsevier Inc. All rights reserved.

  5. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

    NARCIS (Netherlands)

    Maas, S. M.; Lombardi, M. P.; van Essen, A. J.; Wakeling, E. L.; Castle, B.; Temple, I. K.; Kumar, V. K. A.; Writzl, K.; Hennekam, Raoul C. M.

    2009-01-01

    Background: Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome. Method: A series of 17 patients with

  6. Energy expenditure and activity among Hadza hunter-gatherers.

    Science.gov (United States)

    Pontzer, Herman; Raichlen, David A; Wood, Brian M; Emery Thompson, Melissa; Racette, Susan B; Mabulla, Audax Z P; Marlowe, Frank W

    2015-01-01

    Studies of total energy expenditure, (TEE; kcal/day) among traditional populations have challenged current models relating habitual physical activity to daily energy requirements. Here, we examine the relationship between physical activity and TEE among traditional Hadza hunter-gatherers living in northern Tanzania. Hadza adults were studied at two camps, with minimal intervention so as to monitor energy expenditure and activity during normal daily life. We measured daily walking distance and walking speed using wearable GPS units for 41 adults. For a subset of 30 adults, we measured TEE using doubly labeled water, three indices of work load (foraging return rate, maternal status, and number of dependent children), and urinary biomarkers of metabolic activity and stress (8-hydroxydeoxyguanosine, cortisol, and testosterone). Fat-free mass was the single strongest predictor of TEE among Hadza adults (r(2)  = 0.66, P < 0.001). Hadza men used greater daily walking distances and faster walking speeds compared with that of Hadza women, but neither sex nor any measure of physical activity or work load were correlated with TEE in analyses controlling for fat-free mass. Compared with developed, industrial populations, Hadza adults had similar TEE but elevated levels of metabolic stress as measured by 8-hydroxydeoxyguanosine. Our results indicate that daily physical activity may not predict TEE within traditional hunter-gatherer populations like the Hadza. Instead, adults with high levels of habitual physical activity may adapt by reducing energy allocation to other physiological activity. © 2015 Wiley Periodicals, Inc.

  7. Mortality, fertility, and the OY ratio in a model hunter-gatherer system.

    Science.gov (United States)

    White, Andrew A

    2014-06-01

    An agent-based model (ABM) is used to explore how the ratio of old to young adults (the OY ratio) in a sample of dead individuals is related to aspects of mortality, fertility, and longevity experienced by the living population from which the sample was drawn. The ABM features representations of rules, behaviors, and constraints that affect person- and household-level decisions about marriage, reproduction, and infant mortality in hunter-gatherer systems. The demographic characteristics of the larger model system emerge through human-level interactions playing out in the context of "global" parameters that can be adjusted to produce a range of mortality and fertility conditions. Model data show a relationship between the OY ratios of living populations (the living OY ratio) and assemblages of dead individuals drawn from those populations (the dead OY ratio) that is consistent with that from empirically known ethnographic hunter-gatherer cases. The dead OY ratio is clearly related to the mean ages, mean adult mortality rates, and mean total fertility rates experienced by living populations in the model. Sample size exerts a strong effect on the accuracy with which the calculated dead OY ratio reflects the actual dead OY ratio of the complete assemblage. These results demonstrate that the dead OY ratio is a potentially useful metric for paleodemographic analysis of changes in mortality and mean age, and suggest that, in general, hunter-gatherer populations with higher mortality, higher fertility, and lower mean ages are characterized by lower dead OY ratios. Copyright © 2014 Wiley Periodicals, Inc.

  8. Total artificial heart implantation in a young Marfan syndrome patient.

    Science.gov (United States)

    Rao, Prashant; Keenan, Jack B; Rajab, Taufiek K; Kim, Samuel; Smith, Richard; Amabile, Orazio; Khalpey, Zain

    2018-03-01

    Cardiovascular complications represent the leading cause of morbidity and mortality in patients with Marfan syndrome. Here, we describe a unique case where a total artificial heart was implanted in a young Marfan syndrome woman. A 22-year-old postpartum African American female with Marfan syndrome developed multiple severe valve dysfunction and biventricular failure that was refractory to medical management. She previously had a Bentall procedure for Type A aortic dissection and repair of a Type B dissection. We implanted a total artificial heart with a good outcome. Total artificial heart is a durable option for severe biventricular failure and multiple valvular dysfunction as a bridge to transplant in a young patient with Marfan syndrome.

  9. Beyond alcoholism: Wernicke-Korsakoff syndrome in patients with psychiatric disorders.

    Science.gov (United States)

    McCormick, Laurie M; Buchanan, Judith R; Onwuameze, Obiora E; Pierson, Ronald K; Paradiso, Sergio

    2011-12-01

    Wernicke encephalopathy and Korsakoff syndrome (the combined disorder is named Wernicke-Korsakoff syndrome [WKS]) are preventable, life-threatening neuropsychiatric syndromes resulting from thiamine deficiency. WKS has historically been associated with alcoholism; more recently, it has been recognized in patients who have anorexia nervosa or have undergone bariatric surgery for obesity. However, patients with nutritional deficiencies of any origin are at risk for WKS. We present clinical histories and neuroimaging data on 2 young adults with underlying psychiatric disorders who became malnourished and developed WKS. A young woman with bipolar disorder and somatization disorder was hospitalized for intractable vomiting. A young man with chronic paranoid schizophrenia developed delusions that food and water were harmful, and was hospitalized after subsisting for 4 months on soda pop. Acute, life-threatening Wernicke encephalopathy was confirmed in both patients by brain magnetic resonance imaging showing classic thalamic injury. The patients were left with persistent cognitive and physical disabilities that were consistent with Korsakoff syndrome. Failure to suspect a vitamin deficiency led to permanent cognitive and physical disabilities that may necessitate lifelong care for these patients. The neuropsychiatric consequences could have been prevented by prompt recognition of their thiamine deficiency.

  10. Fairy tales? Marion Jones, C.J. Hunter and the framing of doping in American newspapers

    DEFF Research Database (Denmark)

    Pfister, Gertrud Ursula; Gems, Gerald

    2015-01-01

    This article deals with the images, metaphors and narratives in the media coverage of doping in the United States. It presents a case study with a focus on Marion Jones, the most celebrated track athlete of the turn of the millennium, and her husband, C.J. Hunter, a shot put world champion...... under suspicion. At the same time, the 2000 Olympics can be considered a watershed in American anti-doping policy. The media portrayed Jones and Hunter as the Beauty and the Beast or Svengali and his victim, using a famous fairy tale and a well-known novel to capture attention, label the protagonists...

  11. Acute retroviral syndrome in Slovenian patients infected with HIV

    Directory of Open Access Journals (Sweden)

    Mateja Pirš

    2005-06-01

    Full Text Available Background: Two to six weeks after primary infection with HIV 50 to 90 percent of patients develop an acute retroviral syndrome which usually presents with mononucleosis or flu-like illness. Due to nonspecific symptoms ARS is frequently misdiagnosed.Patients and methods: Data of Slovenian patients with acute retroviral syndrome is shown, as well as their symptoms, approaches to management and diagnostic particularities of primary HIV infection.Conclusions: The combination of particular symptoms and epidemiological data should lead us to consider the possibility of an early HIV infection.

  12. Longitudinal Neuropsychological Profile in a Patient with Triple A Syndrome

    Directory of Open Access Journals (Sweden)

    Luigi Mazzone

    2013-01-01

    Full Text Available Triple A syndrome is an autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone resistant adrenal insufficiency, achalasia, and alacrima. Our aim was to describe the neuropsychological characteristics and the cooccurring psychopathological and neurological disorders in an Italian male child suffering from Triple A syndrome at the time of admission (T0 and after one year of follow-up (T1. Many difficulties were observed in the motor domain, as well as in manual dexterity and static/dynamic balance domains of the motor task over time. In sharp contrast with previous literature reports on frequent mild cognitive dysfunction in patients with Triple A syndrome, our child did not show any mental retardation. By contrast, he showed an average IQ at T0 with a slight improvement at T1. To our knowledge, this report is the first describing neuropsychological profile and co-occurring psychopathological problems in a child with Triple A syndrome. Considering that the Triple A syndrome is a progressive disorder which can take years to develop the full-blown clinical picture, these patients require periodical medical controls. Moreover, assessment of neuropsychological and psychopathological features should be performed in patients with this disease, in order to underline the variability of this syndrome.

  13. Imaging of cardiovascular risk in patients with Turner's syndrome

    International Nuclear Information System (INIS)

    Marin, A.; Weir-McCall, J.R.; Webb, D.J.; Beek, E.J.R. van; Mirsadraee, S.

    2015-01-01

    Turner's syndrome is a disorder defined by an absent or structurally abnormal second X chromosome and affects around 1 in 2000 newborn females. The standardised mortality ratio in Turner's syndrome is around three-times higher than in the general female population, mainly as a result of cardiovascular disorders. Most striking is the early age at which Turner's syndrome patients develop the life-threatening complications of cardiovascular disorders compared to the general population. The cardiovascular risk stratification in Turner's syndrome is challenging and imaging is not systematically used. The aim of this article is to review cardiovascular risks in this group of patients and discuss a systematic imaging approach for early identification of cardiovascular disorders in these patients

  14. Restless legs syndrome in patients on hemodialysis

    Directory of Open Access Journals (Sweden)

    Saleh Mohammad Yaser Salman

    2011-01-01

    Full Text Available Restless legs syndrome (RLS is common among dialysis patients, with a reported prevalence of 6-60%. The prevalence of RLS in Syrian patients on hemodialysis (HD is not known. The purpose of this study is to determine the prevalence of RLS in patients on regular HD, and to find the possible correlation between the presence of RLS and demographic, clinical, and biochemical factors. One hundred and twenty-three patients (male/female = 70/53, mean age = 41.95 ± 15.11 years on HD therapy at the Aleppo University Hospital were enrolled into the study. RLS was diagnosed based on criteria established by the International Restless Legs Syn-drome Study Group (IRLSSG. Data procured were compared between patients with and without RLS. Applying the IRLSSG criteria for the diagnosis, RLS was seen in 20.3% of the study pa-tients. No significant difference in age, gender, and intake of nicotine and caffeine was found between patients with and without the RLS. Similarly, there was no difference between the two groups in the duration of end-stage renal disease (ESRD, the period of dialysis dependence, dialysis adequacy, urea and creatinine levels, and the presence of anemia. The co-morbidities and the use of drugs also did not differ in the two groups. Our study suggests that the high prevalence of RLS among patients on HD requires careful attention and correct diagnosis can lead to better therapy and better quality of life. The pathogenesis of RLS is not clear and further studies are required to identify any possible cause as well as to discover the impact of this syndrome on sleep, quality of life, and possibly other complications such as cardiovasculare disease.

  15. Outcome of genetic evaluation of patients with kidney cancer referred for suspected hereditary cancer syndromes.

    Science.gov (United States)

    Stratton, Kelly L; Alanee, Shaheen; Glogowski, Emily A; Schrader, Kasmintan A; Rau-Murthy, Rohini; Klein, Robert; Russo, Paul; Coleman, Jonathan; Offit, Kenneth

    2016-05-01

    To analyze patients with kidney cancer referred for evaluation at a high-volume genetics service at a comprehensive cancer center and identify factors associated with positive tests for hereditary cancer syndromes. A retrospective review of patients referred to the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center was performed, and patients with a personal history of kidney cancer were identified. Patient and disease characteristics were reviewed. In all, 4 variables including age at diagnosis of kidney tumor, presence of syndromic manifestations, family history of kidney cancer, and number of primary malignancies were evaluated for association with positive test results in 2 groups: patients tested for renal cell carcinoma syndromes and Lynch syndrome. Guidance for genetic testing strategy in patients with kidney cancer is provided. Between 1999 and 2012, 120 patients with a history of kidney cancer were evaluated by the Clinical Genetics Service. The mean age at kidney cancer diagnosis was 52 years (interquartile range: 42-63), with 57% being women. A family history of kidney cancer was reported by 39 patients (33%). Time between diagnosis of first cancer and genetic consultation was 5 years in the remaining 23%. Overall, 95 patients were tested for genetic abnormalities with 27 (28%) testing positive. Testing for renal cell carcinoma (RCC)-related syndromes was performed on 43 patients, with 13 testing positive (30%). Lynch syndrome testing was positive in 9 patients (32%) after 28 were tested. In RCC-associated syndromes, young age of diagnosis was associated with positive test results. Conversely, syndromic manifestations and increasing number of primary malignancies were associated with positive Lynch testing. The discovery of inherited kidney cancer syndromes has provided a unique opportunity to identify patients at increased risk for cancer. Factors associated with positive genetic testing are unique to different syndromes. These data

  16. Rivaroxaban in patients with a recent acute coronary syndrome

    DEFF Research Database (Denmark)

    Mega, Jessica L; Braunwald, Eugene; Wiviott, Stephen D

    2012-01-01

    Acute coronary syndromes arise from coronary atherosclerosis with superimposed thrombosis. Since factor Xa plays a central role in thrombosis, the inhibition of factor Xa with low-dose rivaroxaban might improve cardiovascular outcomes in patients with a recent acute coronary syndrome....

  17. Budd-Chiari Syndrome in a Patient with Hepatitis C

    Directory of Open Access Journals (Sweden)

    Joseph Frankl

    2016-01-01

    Full Text Available Chronic Budd-Chiari syndrome can present with cirrhosis and signs and symptoms similar to those of other chronic liver diseases. We present a case of Budd-Chiari syndrome discovered during attempted transjugular intrahepatic portosystemic shunting in a patient with decompensated cirrhosis believed to be secondary to hepatitis C. Although the patient had hepatocellular carcinoma, the Budd-Chiari syndrome was a primary disease due to hepatic venous webs. Angioplasty was performed in this case, which resolved the patient’s symptoms related to portal hypertension. Follow-up venography 5 months after angioplasty demonstrated continued patency of the hepatic veins. A biopsy was obtained in the same setting, which showed centrilobular fibrosis indicating that venous occlusion was indeed the cause of cirrhosis. It is important to consider a second disease when treating a patient with difficult to manage portal hypertension.

  18. Game meat consumption by hunters and their relatives: A probabilistic approach.

    Science.gov (United States)

    Sevillano Morales, Jesus; Moreno-Ortega, Alicia; Amaro Lopez, Manual Angel; Arenas Casas, Antonio; Cámara-Martos, Fernando; Moreno-Rojas, Rafael

    2018-06-18

    This study aimed to estimate the consumption of meat and products derived from hunting by the consumer population and, specifically, by hunters and their relatives. For this purpose, a survey was conducted on the frequency of consuming meat from the four most representative game species in Spain, two of big game, wild boar (Sus scrofa) and red deer (Cervus elaphus) and two of small game, rabbit (Oryctolagus cunulucus) and red partridge (Alectoris rufa), as well as of processed meat products (salami-type sausage) made from those big game species. The survey was carried out on 337 habitual consumers of these types of products (hunters and their relatives). The total mean game meat consumption, per capita in this population group, is 6.87 kg/person/year of meat and 8.57 kg/person/year if the processed meat products are also considered. Consumption of rabbit, red partridge, red deer and wild boar, individually, was 1.85, 0.82, 2.28 and 1.92 kg/person/year, respectively. It was observed that hunters generally registered a larger intake of game meat, this being statistically significant in the case of rabbit meat consumption. Using probabilistic methods, the meat consumption frequency distributions for each hunting species studied were estimated, as well as the products made from big game species and the total consumption both of meat by itself and that including the products made from it. The consumption frequency distributions were adjusted to exponential ones, verified by the test suitable for it according to Akaike Information Criterion, Bayesian Information Criterion, the Chi-Squared and Kolmogorov-Smirnov statistics. In addition, the consumption percentiles of the different distributions were obtained. The latter could be a good tool when making nutrition or contaminant studies since they permit the assessment of exposure to the compound in question.

  19. What are patients with Rett syndrome interested in?

    Science.gov (United States)

    Hirano, Daisuke; Taniguchi, Takamichi

    2018-02-01

    [Purpose] Rett syndrome is a severe neurodevelopmental disease; individuals typically have no verbal skills or purposeful hand movements. In clinical settings, knowledge of their interests would be helpful for therapy. Therefore, we investigated the interests of Rett syndrome patients. [Subjects and Methods] In 2016, we sent a questionnaire regarding the interests of individuals with Rett syndrome to 1,016 directors of schools for special needs education and 204 directors of rehabilitation departments (130 facilities for persons with severe motor and intellectual disabilities, 73 wards for patients with severe motor and intellectual disabilities, and the National Hospital Organization and National Center Hospital, and the National Center of Neurology and Psychiatry) in Japan. We used descriptive statistics and content analysis to examine the answers to the questionnaires. [Results] Information was acquired from 216 individuals (3-53 years old) with Rett syndrome. 92.9% of the individuals were reported to have some interests (e.g., in people, music, things to see, animation, or books). [Conclusion] Individuals with Rett syndrome were observed to be interested in various things despite their having severe motor and intellectual disabilities. These findings suggest that family members and care staff might facilitate various changes or developments of these individuals and discover their hidden strengths by focusing on their interests.

  20. Prehospital behaviour of patients admitted with acute coronary syndrome or witnessed cardiac arrest

    DEFF Research Database (Denmark)

    Ottesen, Michael Mundt; Dixen, Ulrik; Torp-Pedersen, Christian

    2003-01-01

    OBJECTIVE: To study prehospital behaviour of patients admitted with acute coronary syndrome or witnessed cardiac arrest. DESIGN: Structured interview of 250 consecutive patients with acute coronary syndrome and relatives of 48 patients with witnessed cardiac arrest. The following courses of action...... hundred and thirteen patients (45%) knew of thrombolytic therapy. Twenty-seven of 75 patients with knowledge of the benefit of prompt treatment with thrombolysis, acted in accordance with this awareness. CONCLUSION: Patients misinterpret symptoms of acute coronary syndrome and are misguided when calling...

  1. Characteristic Morphologies of the Bicuspid Aortic Valve in Patients with Genetic Syndromes.

    Science.gov (United States)

    Niaz, Talha; Poterucha, Joseph T; Olson, Timothy M; Johnson, Jonathan N; Craviari, Cecilia; Nienaber, Thomas; Palfreeman, Jared; Cetta, Frank; Hagler, Donald J

    2018-02-01

    In patients with bicuspid aortic valve (BAV), complications including progressive aortic stenosis and aortic dilatation develop over time. The morphology of cusp fusion is one of the determinants of the type and severity of these complications. We present the association of morphology of cusp fusion in BAV patients with distinctive genetic syndromes. The Mayo Clinic echocardiography database was retrospectively reviewed to identify patients (age ≤ 22 years) diagnosed with BAV from 1990 to 2016. Cusp fusion morphology was determined from the echocardiographic studies, while coexisting cardiac defects and genetic syndromes were determined from chart review. A total of 1,037 patients with BAV were identified: 550 (53%) had an isolated BAV, 299 (29%) had BAV and a coexisting congenital heart defect, and 188 (18%) had BAV and a coexisting genetic syndrome or disorder. There were no differences in distribution of morphology across the three groups. However, right-noncoronary (RN) cusp fusion was the predominant morphology associated with Down syndrome (P = .002) and right-left (RL) cusp fusion was the predominant morphology associated with Turner syndrome (P = .02), DiGeorge syndrome (P = .02), and Shone syndrome (P = .0007), when compared with valve morphology in patients with isolated BAV. Isolated BAV patients with RN cusp fusion had larger ascending aorta diameter (P = .001) and higher number of patients with ≥ moderate aortic regurgitation (P = .02), while those with RL cusp fusion had larger sinus of Valsalva diameter (P = .0006). Morphological subtypes of BAV are associated with different genetic syndromes, suggesting distinct perturbations of developmental pathways in aortic valve malformation. Copyright © 2017 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.

  2. Hide Tanning and Its Use in Taiga: The Case of the Orochen-Evenki Reindeer Herders and Hunters of Zabaikalye (East Siberia

    Directory of Open Access Journals (Sweden)

    Donatas Brandišauskas

    2011-05-01

    Full Text Available This article documents the way in which the Orochen-Evenki hunters and herders in northern part of Zabaikalye tan hides and produce gear in the post-Soviet era. Here, I wish to present the argument that it is difficult to understand the reviving of hide tanning in remote villages and the taiga without understanding how hunters and herders in this region adapt to the unstable post-Soviet environment. I suggest that hunters and herders aim to maintain their autonomy from goods and resources imported from cities, and, in spending little effort connecting with state powers in this way, securing their lives from socio-economic constraints.

  3. Hide Tanning and Its Use in Taiga: The Case of the Orochen-Evenki Reindeer Herders and Hunters of Zabaikalye (East Siberia

    Directory of Open Access Journals (Sweden)

    Donatas Brandišauskas

    2010-12-01

    Full Text Available This article documents the way in which the Orochen-Evenki hunters and herders in northern part of Zabaikalye tan hides and produce gear in the post-Soviet era. Here, I wish to present the argument that it is difficult to understand the reviving of hide tanning in remote villages and the taiga without understanding how hunters and herders in this region adapt to the unstable post-Soviet environment. I suggest that hunters and herders aim to maintain their autonomy from goods and resources imported from cities, and, in spending little effort connecting with state powers in this way, securing their lives from socio-economic constraints.

  4. Prevalence of dry eye syndrome and diabetic retinopathy in type 2 diabetic patients

    Directory of Open Access Journals (Sweden)

    Afkhami-Ardekani Mohammad

    2008-06-01

    Full Text Available Abstract Background This study was performed to assess the prevalence of dry eye syndrome and diabetic retinopathy (DR in type 2 diabetic patients and their contributing factors. Methods 199 type 2 diabetic patients referred to Yazd Diabetes Research Center were consecutively selected. All Subjects were assessed by questionnaire about other diseases and drugs. Dry eye syndrome was assessed with Tear break up time tests and Schirmer. All the subjects underwent indirect ophthalmoscopy and retinal color photography. DR was graded according to early Treatment Diabetic Retinopathy (ETDRS criteria. Results Of 199 subjects, 108 patients (54.3% suffer from dry eye syndrome. Although dry eye syndrome was more common in older and female patients, this association was not significant. But there was significantly association between dry eye syndrome and duration of diabetes (P = 0.01. Dry eye syndrome was more frequent in diabetic patients with DR (P = 0.02. DR was found in 140 patients (70.35%, which included 34 patients (17.1% with mild non proliferative DR (NPDR, 34 patients (17.1% with moderate NPDR, 22 patients (11.1% with severe NPDR and 25 patients (25.1% with proliferative DR (PDR. There were significant relation between age, sex and duration of diabetes and DR. Conclusion In this study the prevalence of dry eye syndrome was 54.3%. Diabetes and dry eyes appear to have a common association. Further studies need to be undertaken to establish an etiologic relationship. However, examination for dry eye should be an integral part of the assessment of diabetic eye disease.

  5. Incidence of refeeding syndrome in internal medicine patients

    NARCIS (Netherlands)

    Kraaijenbrink, B. V. C.; Lambers, W. M.; Mathus-Vliegen, E. M. H.; Siegert, C. E. H.

    2016-01-01

    Refeeding syndrome is a potentially fatal shift of fluids and electrolytes that may occur after reintroducing nutrition in a malnourished patient. Its incidence in internal medicine patients is not known. We aimed at determining the incidence in a heterogeneous group of patients acutely admitted to

  6. Learning from the mistakes of others: How female elk (Cervus elaphus) adjust behaviour with age to avoid hunters.

    Science.gov (United States)

    Thurfjell, Henrik; Ciuti, Simone; Boyce, Mark S

    2017-01-01

    In animal behaviour, there is a dichotomy between innate behaviours (e.g., temperament or personality traits) versus those behaviours shaped by learning. Innate personality traits are supposedly less evident in animals when confounded by learning acquired with experience through time. Learning might play a key role in the development and adoption of successful anti-predator strategies, and the related adaptation has the potential to make animals that are more experienced less vulnerable to predation. We carried out a study in a system involving a large herbivorous mammal, female elk, Cervus elaphus, and their primary predator, i.e., human hunters. Using fine-scale satellite telemetry relocations, we tested whether differences in behaviour depending on age were due solely to selection pressure imposed by human hunters, meaning that females that were more cautious were more likely to survive and become older. Or whether learning also was involved, meaning that females adjusted their behaviour as they aged. Our results indicated that both human selection and learning contributed to the adoption of more cautious behavioural strategies in older females. Whereas human selection of behavioural traits has been shown in our previous research, we here provide evidence of additive learning processes being responsible for shaping the behaviour of individuals in this population. Female elk are indeed almost invulnerable to human hunters when older than 9-10 y.o., confirming that experience contributes to their survival. Female elk monitored in our study showed individually changing behaviours and clear adaptation as they aged, such as reduced movement rates (decreased likelihood of encountering human hunters), and increased use of secure areas (forest and steeper terrain), especially when close to roads. We also found that elk adjusted behaviours depending on the type of threat (bow and arrow vs. rifle hunters). This fine-tuning by elk to avoid hunters, rather than just

  7. Learning from the mistakes of others: How female elk (Cervus elaphus adjust behaviour with age to avoid hunters.

    Directory of Open Access Journals (Sweden)

    Henrik Thurfjell

    Full Text Available In animal behaviour, there is a dichotomy between innate behaviours (e.g., temperament or personality traits versus those behaviours shaped by learning. Innate personality traits are supposedly less evident in animals when confounded by learning acquired with experience through time. Learning might play a key role in the development and adoption of successful anti-predator strategies, and the related adaptation has the potential to make animals that are more experienced less vulnerable to predation. We carried out a study in a system involving a large herbivorous mammal, female elk, Cervus elaphus, and their primary predator, i.e., human hunters. Using fine-scale satellite telemetry relocations, we tested whether differences in behaviour depending on age were due solely to selection pressure imposed by human hunters, meaning that females that were more cautious were more likely to survive and become older. Or whether learning also was involved, meaning that females adjusted their behaviour as they aged. Our results indicated that both human selection and learning contributed to the adoption of more cautious behavioural strategies in older females. Whereas human selection of behavioural traits has been shown in our previous research, we here provide evidence of additive learning processes being responsible for shaping the behaviour of individuals in this population. Female elk are indeed almost invulnerable to human hunters when older than 9-10 y.o., confirming that experience contributes to their survival. Female elk monitored in our study showed individually changing behaviours and clear adaptation as they aged, such as reduced movement rates (decreased likelihood of encountering human hunters, and increased use of secure areas (forest and steeper terrain, especially when close to roads. We also found that elk adjusted behaviours depending on the type of threat (bow and arrow vs. rifle hunters. This fine-tuning by elk to avoid hunters, rather

  8. CHOROIDAL MELANOMA IN A PATIENT WITH WAARDENBURG SYNDROME.

    Science.gov (United States)

    Itty, Sujit; Richter, Elizabeth R; McCannel, Tara A

    2015-01-01

    To report a case of choroidal malignant melanoma in a patient with Waardenburg syndrome and bilateral choroidal pigmentary abnormalities. Clinical examination and multimodal imaging of the case. A 45-year-old woman presented with asymptomatic flat choroidal pigmentation abnormalities in both eyes. A choroidal lesion was identified in the inferotemporal periphery of the left eye arising from an area of hyperpigmentation; ultrasonography findings were consistent with a choroidal melanoma. The patient endorsed a personal and family history of premature graying of hair and was identified to have dystopia canthorum consistent with the diagnosis of Waardenburg syndrome. The authors present the first reported case of concurrent Waardenburg syndrome and choroidal malignant melanoma. This cooccurrence may suggest that the relative hyperpigmented regions in affected fundi may be abnormal and should be monitored closely for the development of choroidal melanoma.

  9. Parry-Romberg syndrome in a pediatric patient. A case report.

    Directory of Open Access Journals (Sweden)

    Edgar Reyes

    2015-07-01

    Full Text Available The Parry-Romberg syndrome is a rare degenerative disease of unknown etiology that has dental implications. It is characterized by a progressive hemifacial atrophy that appears in the early stages of life. It causes aesthetic, functional and psychological alterations, and has social implications for the patient. There is no definitive treatment for the Parry-Romberg syndrome. Systemic and immune alterations produce oral and maxillofacial manifestations, which need to be managed by specialized dental professionals. The aim of this paper is to do a literature review of the Parry-Romberg syndrome and describe the oral and clinical characteristics of this condition in a 12-year-old male pediatric patient, who had a history of neurological disorders and facial asymmetry on the left side. Dentists require an adequate knowledge of the clinical and dental characteristics of this syndrome. With early diagnosis and appropriate surgical and orthodontic treatment at an early age, they can improve the quality of life of patients and minimize invasive long-term effects.

  10. The relationship with restless legs syndrome, fibromyalgia, and depressive symptoms in migraine patients.

    Science.gov (United States)

    Akdag Uzun, Zehra; Kurt, Semiha; Karaer Unaldi, Hatice

    2018-05-18

    In this study, we aimed to investigate restless legs syndrome, depression, frequency of fibromyalgia and possible causes of its frequencies, and the relationships among these synergies and migraine's prodrome, aura, pain, and postdrome symptoms in patients with migraine. The study group included 200 patients previously or recently diagnosed with definite migraine and according to International Headache Society criteria and 200 healthy volunteers. All subjects underwent a medical interview to confirm restless legs syndrome and fibromyalgia, and they were asked to complete Beck Depression and Anxiety Inventory and "severity of restless legs syndrome inventory." The frequencies of depressive symptoms and fibromyalgia in the patients with migraine were higher than those of the control group. The mean age of the migraine patients with restless legs syndrome was also higher, and this group had migraine headache for a longer time. There was a statistically significant difference with regard to only generalized anxiety and traveler's distress, which were features of the migraine, between migraine patients with and without restless legs syndrome. Restless legs syndrome was more common in migraine patients with and without aura and in those with nonspecific white matter lesions in the cranial MRI. In our study, the greater frequency of restless legs syndrome, depressive symptoms, and fibromyalgia in the patients with migraine supports the role of dopamine, which is common to all three disorders. Interviews focused on these problems among migraine patients may help to decide on the best available treatment modality.

  11. Re-interventions on the thoracic and thoracoabdominal aorta in patients with Marfan syndrome

    OpenAIRE

    Schoenhoff, Florian S.; Carrel, Thierry P.

    2017-01-01

    The advent of multi-gene panel genetic testing and the discovery of new syndromic and non-syndromic forms of connective tissue disorders have established thoracic aortic aneurysms as a genetically mediated disease. Surgical results in patients with Marfan syndrome (MFS) provide an important benchmark for this patient population. Prophylactic aortic root surgery prevents acute dissection and has contributed to the improved survival of MFS patients. In the majority of patients, re-interventions...

  12. [Traditional Chinese medicine syndrome factors of patients with HIV infection or AIDS in China].

    Science.gov (United States)

    Jiang, Feng; Fu, Lin-chun; Ma, Jian-ping; Zhou, Qing; Peng, Bo; Xie, Shi-ping; Guo, Hui-jun; Dong, Yong-xin; Ma, Xiu-lan; Guo, Xuan-xian; Xie, Zhong-li; Hu, Yan-ping; Li, Qing-ya; Li, Hua-wei; Jin, Yan-tao

    2011-09-01

    To study the characteristics of traditional Chinese medicine (TCM) syndrome factors of patients from different areas of China with human immunodeficiency virus (HIV) infection or acquired immunodeficiency syndrome (AIDS). A cross-sectional investigation study was conducted in Henan, Guangdong and Yunnan Provinces and Xinjiang Uygur Autonomous Region of China from October 2008 to August 2010. Based on literature review and expert opinion, a clinical questionnaire of TCM syndromes was drawn up. This survey was carried out after the investigators were professionally trained. Wenfeng III Auxiliary Diagnosis and Treat System of TCM was used to analyze the frequencies of AIDS patients' signs and symptoms with scores above 70 of syndrome factors respectively. Based on this work, syndrome factors of AIDS were analyzed in different areas. There were 608 HIV/AIDS cases investigated from October 2008 to August 2010 in total; among them, 276 cases were from Henan, 126 cases from Guangdong, 120 cases from Xinjiang and 86 cases from Yunnan. The results of syndrome factor analysis indicated that the syndromes of four provinces were similar. HIV/AIDS patients in the four areas exhibited qi deficiency, blood deficiency, yin deficiency, yang deficiency, dampness, phlegm, qi stagnation and essence deficiency syndromes. Patients in each area also had their own characteristics, such as that the scores of dampness of Guangdong and yin deficiency of Xinjiang were higher than the other syndromes, whereas the scores of Henan Province were higher than the other areas. AIDS patients had higher scores of syndromes than HIV-infected patients. HIV/AIDS patients from different areas had similar syndrome elements. The theory of "AIDS toxin injuring primordial qi" can sum up the TCM etiology and pathogenesis of HIV/AIDS.

  13. Levels and sources of forest fire prevention knowledge of California hunters

    Science.gov (United States)

    William S. Folkman

    1963-01-01

    Males 30-50 years of age from the smaller urban centers (under 25,000 population) make up the bulk of the California hunter population. They are mainly from the skilled-semiskilled and professional-managerial occupations. Their level of knowledge about forest fire prevention is generally high, but their knowledge is weak in some pertinent areas. Most frequently...

  14. Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population.

    Science.gov (United States)

    Chika, Noriyasu; Eguchi, Hidetaka; Kumamoto, Kensuke; Suzuki, Okihide; Ishibashi, Keiichiro; Tachikawa, Tetsuhiko; Akagi, Kiwamu; Tamaru, Jun-Ichi; Okazaki, Yasushi; Ishida, Hideyuki

    2017-02-09

    We investigated the prevalence of Lynch syndrome and Lynch-like syndrome among Japanese colorectal cancer patients, as there have been no credible data from Japan. Immunohistochemical analyses for mismatch repair proteins (MLH1, MSH2, MSH6 and PMS2) were carried out in surgically resected, formalin-fixed paraffin-embedded specimens obtained from 1,234 newly diagnosed colorectal cancer patients between March 2005 and April 2014. The presence/absence of the BRAF V600E mutation and hypermethylation of the MLH1 promoter was analyzed where necessary. Genetic testing was finally undertaken in patients suspected as having Lynch syndrome. By the universal screening approach with immunohistochemical analysis for mismatch repair proteins followed by analyses for the BRAF V600E mutation and MLH1 promoter methylation status, 11 (0.9%) of the 1,234 patients were identified as candidates for genetic testing. Out of the 11 patients, 9 (0.7%) were finally diagnosed as having Lynch syndrome; the responsible genes included MLH1 (n = 1), MSH2 (n = 4), EPCAM (n = 1) and MSH6 (n = 3). The remaining two patients (0.2%) were regarded as having Lynch-like syndrome, since biallelic somatic deletion of the relevant mismatch repair genes was detected in the absence of germline mismatch repair alterations. None of the cases was identified as having germline MLH1 epimutation. The prevalence of Lynch syndrome among all newly diagnosed cases of colorectal cancer in Japan is in the same range as that recently reported by studies in Western population. The prevalence of Lynch-like syndrome seems to be extremely low. © The Author 2016. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

  15. Plasma Steroid Metabolome Profiling for Diagnosis and Subtyping Patients with Cushing Syndrome.

    Science.gov (United States)

    Eisenhofer, Graeme; Masjkur, Jimmy; Peitzsch, Mirko; Di Dalmazi, Guido; Bidlingmaier, Martin; Grüber, Matthias; Fazel, Julia; Osswald, Andrea; Beuschlein, Felix; Reincke, Martin

    2018-03-01

    Diagnosis of Cushing syndrome requires a multistep process that includes verification of hypercortisolism followed by identification of the cause of adrenocortical hyperfunction. This study assessed whether pituitary, ectopic, and adrenal subtypes of Cushing syndrome were characterized by distinct plasma steroid profiles that might assist diagnosis. In this retrospective cross-sectional study, mass spectrometric measurements of a panel of 15 plasma steroids were applied to 222 patient samples tested for Cushing syndrome. Disease was excluded in 138 and confirmed in 51 patients with pituitary Cushing syndrome, 12 with ectopic adrenocorticotropin secretion, and 21 with adrenal disease. Another 277 age- and sex-matched hypertensive and normotensive volunteers were included for comparison. Compared with patients without disease, the largest increases in plasma steroids among patients with Cushing syndrome were observed for 11-deoxycortisol (289%), 21-deoxycortisol (150%), 11-deoxycorticosterone (133%), corticosterone (124%), and cortisol (122%). Patients with ectopic disease showed the most prominent increases, but there was considerable variation for other steroids according to subtype. Patients with adrenal disease had the lowest concentrations of androgens, whereas those with ectopic and pituitary disease showed the lowest concentrations of aldosterone. Plasma 18-oxocortisol was particularly low in ectopic disease. With the use of 10 selected steroids, subjects with and without different Cushing syndrome subtypes could be discriminated nearly as closely as with the use of salivary and urinary free cortisol, dexamethasone-suppressed cortisol, and plasma adrenocorticotropin (9.5% vs 5.8% misclassification). Patients with different subtypes of Cushing syndrome show distinctive plasma steroid profiles that may offer a supplementary single-test alternative for screening purposes. © 2017 American Association for Clinical Chemistry.

  16. Patient-reported disease knowledge and educational needs in Lynch syndrome: findings of an interactive multidisciplinary patient conference.

    Science.gov (United States)

    Bannon, Sarah A; Mork, Maureen; Vilar, Eduardo; Peterson, Susan K; Lu, Karen; Lynch, Patrick M; Rodriguez-Bigas, Miguel A; You, Yiqian Nancy

    2014-02-05

    Patients with Lynch Syndrome, the most common hereditary colorectal cancer syndrome, benefit from genetic education and family counseling regarding diagnostic testing and cancer surveillance/prevention recommendations. Although genetic counseling is currently the most common venue where such education and counseling takes place, little is known about the level of disease knowledge and education needs as directly reported by patients and families with Lynch Syndrome. Furthermore, experiences with forums for larger-scale knowledge transfer have been limited in the current literature. We conducted a one-day interactive multidisciplinary patient conference, designed to complement individual genetic counseling for updating disease knowledge, supportive networking and needs assessment among Lynch Syndrome patients and their family members. The patient conference was designed utilizing the conceptual framework of action research. Paired pre- and post-conference surveys were administered to 44 conference participants anonymously to assess patient-reported disease knowledge and education needs. A multidisciplinary team of expert providers utilized a variety of educational formats during the one-day conference. Four main focus areas were: genetic testing, surveillance/prevention, living with Lynch Syndrome, and update on research. Thirty-two participants (73%) completed the pre-conference, and 28 (64%) participants completed the post-conference surveys. Nineteen respondents were affected and the remaining were unaffected. The scores of the disease-knowledge items significantly increased from 84% pre- to 92% post-conference (p = 0.012). Patients reported a high level of satisfaction and identified further knowledge needs in nutrition (71%), surveillance/prevention options (71%), support groups (36%), cancer risk assessment (32%), active role in medical care (32%), and research opportunities (5%). Our experience with a dedicated patient education conference focused on

  17. Favorable ecological circumstances promote life expectancy in chimpanzees similar to that of human hunter-gatherers.

    Science.gov (United States)

    Wood, Brian M; Watts, David P; Mitani, John C; Langergraber, Kevin E

    2017-04-01

    Demographic data on wild chimpanzees are crucial for understanding the evolution of chimpanzee and hominin life histories, but most data come from populations affected by disease outbreaks and anthropogenic disturbance. We present survivorship data from a relatively undisturbed and exceptionally large community of eastern chimpanzees (Pan troglodytes schweinfurthii) at Ngogo, Kibale National Park, Uganda. We monitored births, deaths, immigrations, and emigrations in the community between 1995 and 2016. Using known and estimated ages, we calculated survivorship curves for the whole community, for males and females separately, and for individuals ≤2 years old when identified. We used a novel method to address age estimation error by calculating stochastic survivorship curves. We compared Ngogo life expectancy, survivorship, and mortality rates to those from other chimpanzee communities and human hunter-gatherers. Life expectancy at birth for both sexes combined was 32.8 years, far exceeding estimates of chimpanzee life expectancy in other communities, and falling within the range of human hunter-gatherers (i.e., 27-37 years). Overall, the pattern of survivorship at Ngogo was more similar to that of human hunter-gatherers than to other chimpanzee communities. Maximum lifespan for the Ngogo chimpanzees, however, was similar to that reported at other chimpanzee research sites and was less than that of human-hunter gatherers. The absence of predation by large carnivores may contribute to some of the higher survivorship at Ngogo, but this cannot explain the much higher survivorship at Ngogo than at Kanyawara, another chimpanzee community in the same forest, which also lacks large carnivores. Higher survivorship at Ngogo appears to be an adaptive response to a food supply that is more abundant and varies less than that of Kanyawara. Future analyses of hominin life history evolution should take these results into account. Copyright © 2017 Elsevier Ltd. All rights

  18. Intraoperative navigation-guided resection of anomalous transverse processes in patients with Bertolotti's syndrome.

    Science.gov (United States)

    Babu, Harish; Lagman, Carlito; Kim, Terrence T; Grode, Marshall; Johnson, J Patrick; Drazin, Doniel

    2017-01-01

    Bertolotti's syndrome is characterized by enlargement of the transverse process at the most caudal lumbar vertebra with a pseudoarticulation between the transverse process and sacral ala. Here, we describe the use of intraoperative three-dimensional image-guided navigation in the resection of anomalous transverse processes in two patients with Bertolotti's syndrome. Two patients diagnosed with Bertolotti's syndrome who had undergone the above-mentioned procedure were identified. The patients were 17- and 38-years-old, and presented with severe, chronic low back pain that was resistant to conservative treatment. Imaging revealed lumbosacral transitional vertebrae at the level of L5-S1, which was consistent with Bertolotti's syndrome. Injections of the pseudoarticulations resulted in only temporary symptomatic relief. Thus, the patients subsequently underwent O-arm neuronavigational resection of the bony defects. Both patients experienced immediate pain resolution (documented on the postoperative notes) and remained asymptomatic 1 year later. Intraoperative three-dimensional imaging and navigation guidance facilitated the resection of anomalous transverse processes in two patients with Bertolotti's syndrome. Excellent outcomes were achieved in both patients.

  19. Enhanced MRI in patients with Ramsay-Hunt's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yanagida, Masahiro; Ushiro, Koichi; Yamashita, Toshio; Kumazawa, Tadami (Kansai Medical Univ., Osaka (Japan). Dept. of Otolaryngology); Katoh, Tsutomu (Kansai Medical Univ., Osaka (Japan). Dept. of Radiology)

    1993-01-01

    Enhanced MRI was performed in 14 patients with Ramsay-Hunt,s syndrome to investigate the pathogenesis of this syndrome. All MRI studies were performed on a 0.5T superconductivity MRI system using a head coil with Gd-DTPA. Enhancement was observed in the areas of the distal internal auditory canal and labyrinthine segment in many patients, and was especially prominent in patients suffering from vertigo, tinnitus, and hearing loss. In some patients it involved not only the facial nerve of the internal auditory canal but also the cochlear nerve and vestibular nerves. Since histological changes of the facial nerve in patients with Ramsay-Hunt's syndrome are assumed to occur in the distal internal auditory canal and labyrinthine segment, which is more proximal than the geniculate ganglion, and the possibility is suggested that inflammation may be spread to the vestibular and cochlear nerve via the internal auditory canal. (14 refs., 2 figs.).

  20. Multidisciplinary approach for management of dentofacial deformity of a patient with goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Usha Shenoy

    2018-01-01

    Full Text Available Goldenhar syndrome is a rare congenital craniofacial deformity, associated with anomalies of the head and spinal cord. The syndrome may affect the eyes, ears, face, and mouth and can also differ greatly in the degree of seriousness. The precise etiology of this syndrome is still not identified. Adult patients with dentoskeletal deformities usually need orthodontic and surgical corrections, requiring an integrated approach, patient cooperation, and systemized treatment planning. A poor facial appearance is often the patient's chief complaint, but it may be accompanied by functional problems, temporomandibular joints disorders, or psychosocial handicaps. The present case report highlights the orthodontic and surgical management of a patient with Goldenhar syndrome.

  1. The seed hunter in het spoor van Vavilov (interview met C. Kik)

    NARCIS (Netherlands)

    Zanderink, R.; Kik, C.

    2013-01-01

    Er moet voor een veredelaar een grote variatie aan plantmateriaal aanwezig zijn om uit te kunnen putten zodat onze gewassen, die vaak bestaan uit monoculturen, voor de toekomst veiliggesteld worden. Het vinden van die variatie is het werk van seed hunters of zadenverzamelaars. Eén van die seed

  2. Frequency of metabolic syndrome in patients with type-2 diabetes

    International Nuclear Information System (INIS)

    Ahmed, N.; Ahmad, T.; Hussain, S.J.; Javed, M.

    2010-01-01

    Background: Diabetes, Hypertension, Obesity and Ischaemic Heart Disease have become a problem of public health magnitude with substantial economic burden both in the developed as well as the developing countries. Obesity is quite frequent in Type 2 diabetics and also plays a central role in causing Metabolic Syndrome (MetS). Metabolic Syndrome significantly increases the incidence of cardiovascular complications. This study was done to determine the frequency of MetS in our Type 2 diabetic patients as most of the components of MetS can be modified and identifying/managing these at an early stage might be of considerable help in reducing cardiovascular complications. Methods: This cross-sectional study was done in Medical B and Medical A wards of Ayub Teaching Hospital, Abbottabad from Nov, 08 to April, 09. Type 2 Diabetic patients aged above 40 years who gave informed consent were included in the study. Data was collected through a structured proforma. Frequency of Metabolic Syndrome was estimated according to the IDF consensus worldwide definition of the MetS. Results: Of the 100 patients enrolled in this study 56 were females and 44 were males with a mean age of 59.9 years. Out of these 100 participants seventy six (76%) were diagnosed to have metabolic syndrome. Of the 56 females, forty eight (85.71%) were having metabolic syndrome while twenty eight (63.63%) of the 44 male participants were having the syndrome. The difference was statistically significant (p<0.05). Conclusion: Frequency of MetS was found to be significantly high in this study with female preponderance. All the components, except Hypertension were more frequent in females. Diabetic patients with metabolic syndrome need more aggressive approach in management so as to decrease the incidence of cardiovascular complications. (author)

  3. The hunter a scientific novel

    CERN Document Server

    Genta, Giancarlo

    2013-01-01

    The 24th century: humankind has become a spacefaring civilization, colonizing the solar system and beyond. While no alien forms of life have yet been encountered in this expansion into space, colonists suddenly encounter machines of alien origin - huge robots able to reproduce themselves.  Called replicators by the colonists, they seem to have but a single goal: to destroy all organic life they come in contact with. Since the colonial governments have no means to fight this menace directly, they instead promise huge rewards to whoever destroys a replicator. As a result, the frontier attracts a new kind of adventurers, the Hunters, who work to find and destroy the replicators. Mike Edwards, a skilled young maintenance technician and robotics expert at a faraway outpost, will not only become one of them - but be the very first one to unlock the secret behind the replicators’ origin and mission.   The scientific and technical aspects underlying the plot - in particular space travel, robotics and self-replica...

  4. Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Toka

    2012-09-01

    Full Text Available Objective: Monnose-Binding lectin (MBL appears to play an important role in the immune system. The genetic polymorphisms in the MBL2 gene can result in a reduction of serum levels, leading to a predisposition to recurrent infection. The aim of this study is to investigate the influence of a polymorphism in codon 54 of the MBL2 gene on the susceptibility to Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome (EM, SJS and SJS/TEN overlap syndrome. Material and Methods: Our study included 64 patients who were clinically and/or histopathologically diagnosed with EM, SJS, and SJS/TEN overlap syndrome and 66 healthy control subjects who were genotyped for the MBL2 gene codon 54 polymorphism using the PCR-RFLP method. For all statistical analyses, the level of significance was set at p<0.05. Results: The prevalence of the B allele was 18% in the EM, SJS and SJS/TEN patient groups and 13% in the control group. No significant differences in allele frequencies of any polymorphism were observed between the patient and control groups, although the B allele was more frequent in the patient groups (p=0.328.Conclusion: Our results provide no evidence of a relationship between MBL2 gene codon 54 polymorphism and the susceptibility to EM, SJS and SJS/TEN overlap syndrome. However, these findings should be confirmed in studies with a larger sample size.

  5. Prevalence of metabolic syndrome in Chinese psoriasis patients: A hospital-based cross-sectional study.

    Science.gov (United States)

    Gui, Xin-Yu; Yu, Xiao-Ling; Jin, Hong-Zhong; Zuo, Ya-Gang; Wu, Chao

    2018-01-01

    Psoriasis, a chronic autoimmune skin disorder, is believed to contribute to cardiovascular diseases and metabolic syndrome. Psoriasis's association with the components of metabolic syndrome has been reported previously. However, large-scale cross-sectional studies about psoriasis and metabolic syndrome are rare in China. We assessed the prevalence of metabolic syndrome in Chinese psoriasis patients and controls. A total of 859 psoriasis patients and 1,718 controls were recruited in an age- and sex-matched cross-sectional study. Metabolic syndrome occurred in 14.3% of the psoriasis patients as opposed to 10.0% of the control participants (P = 0.001). Psoriasis patients had a higher prevalence of overweight/obesity, hyperglycemia and dyslipidemia when compared with controls. Meanwhile, psoriasis patients with metabolic syndrome were older, and had an older age of onset and a longer disease duration when compared with those without metabolic syndrome. The prevalence of metabolic syndrome is higher in the Chinese psoriatic population, which can favor cardiovascular events. The present study strengthens the value of treating psoriasis patients not only dealing with the skin lesions, and we suggest appropriate screening and relevant health education be carried out in the treatment of psoriasis patients. © 2017 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.

  6. Shooting history and presence of high-frequency hearing impairment in swedish hunters: A cross-sectional internet-based observational study.

    Science.gov (United States)

    Honeth, Louise; Ström, Peter; Ploner, Alexander; Bagger-Sjöbäck, Dan; Rosenhall, Ulf; Nyrén, Olof

    2015-01-01

    The aim of this cross-sectional study among Swedish hunters was to examine the association between shooting history and presence of high-frequency hearing impairment (HFHI). All hunters registered with an e-mail address in the membership roster of the Swedish Hunters' Association were invited via e-mail to a secure website with a questionnaire and an Internet-based audiometry test. Associations, expressed as prevalence ratio (PR), were multivariately modelled using Poisson regression. The questionnaire was answered by 1771 hunters (age 11-91 years), and 202 of them also completed the audiometry test. Subjective severe hearing loss was reported by 195/1771 (11%), while 23/202 (11%) exhibited HFHI upon testing with Internet-based audiometry. As many as 328/1771 (19%) had never used hearing protection during hunting. In the preceding 5 years, 785/1771 (45%), had fired >6 unprotected gunshots with hunting rifle calibers. The adjusted PR of HFHI when reporting 1-6 such shots, relative to 0, was 1.5 [95% confidence interval (CI) 1.1-2.1; P = 0.02]. We could not verify any excessive HFHI prevalence among 89 hunters reporting unprotected exposure to such gunshot noise >6 times. Nor did the total number of reported rifle shots seem to matter. These findings support the notion of a wide variation in individual susceptibility to impulse noise; that significant sound energy, corresponding to unprotected noise from hunting rifle calibers, seems to be required; that susceptible individuals may sustain irreversible damage to the inner ear from just one or a few shots; and that use of hearing protection should be encouraged from the first shot with such weapons.

  7. Early preeclampsia and HELLP syndrome in a 20 week pregnant patient

    Directory of Open Access Journals (Sweden)

    Fatemeh Keighobadi Khajeh

    2017-01-01

    Full Text Available The first time Weinstein in 1982 described patients with the syndrome of hemolysis, elevated liver enzymes, and low platelet count (HELLP in pregnant preeclamptic and eclamptic patients. This syndrome is a severe form of preeclampsia or eclampsia. Usually HELLP syndrome occurs at the third trimester and only 15% occur before the 27th week of pregnancy and rarely before the 20th week of pregnancy. We want to present a 30- year old parity 2, gravidity 1 pregnant patient who was pregnant for 20 weeks with preeclampsia and HELLP syndrome. Two hours before arriving to the emergency unit, she felt chest discomfort and went to the nearest clinic to visit a physician. She was then referred to the hospital because of high blood pressure (BP. When she arrived to the emergency unit, she had right upper quadrant and epigastric pain, headache, vomiting, dyspnea, and high BP (185/100. Finally the diagnosis of HELLP syndrome was made. As maternal and fetus mortality and morbidity of HELLP syndrome is high, immediate recognition and treatment is vital to save the lives of both the mother and the fetus

  8. FEATURES OF FORMATION OF COLLATERAL CIRCULATION IN PATIENTS WITH SUBCLAVIAN STEAL SYNDROME.

    Science.gov (United States)

    Kopolovets, I; Štefanič, P; Rusyn, V; Tóth, Š; Mashura, V; Berek, P

    2017-12-01

    To date in patients with subclavian steal syndrome diagnosis is only grade of stenosis or localization of occlusion described. Authors recommend to take into account also type of a collateral compensation of cerebral circulation for selection of an optimal treatment The objective of the research was to study the features of formation of collateral circulation in patients with subclavian steal syndrome. The authors described changes in the direction of blood flow in the extracranial vessels of 42 patients with subclavian steal syndrome. Latent subclavian steal syndrome was detected in 26.2% of patients, transient subclavian steal syndrome was found in 54.8% of patients, and a persistent course of the disease was observed in 19.9% of patients. Symptoms of vertebrobasilar insufficiency were detected in 26.6% of patients, and combination of chronic upper extremity ischemia and vertebrobasilar insufficiency was diagnosed in 73.8% of patients. When analyzing the features of collateral circulation in 64.3% of patients the extracranial compensatory mechanism was observed being provided by three main groups of collateral hemodynamic reallocation: the occipito-vertebral hemodynamic mechanism of compensation was detected in 38.1% of cases, the thyroid compensatory mechanism was found in 16.7% of cases, and the brain stem-occipital compensatory mechanism was observed in 9.5% of cases. In 35.7% of patients the intracranial compensatory mechanism was observed being provided by two main groups of collateral hemodynamic reallocation: the vertebro-vertebral compensatory mechanism was found in 21.4% of cases and cerebrobasilar compensatory mechanism was detected in 14.3% of cases. Consideration of the features of collateral circulation in patients with subclavian steal syndrome may serve as a prognostic criterion for selecting an optimal treatment tactics.Each of compensatory mechanisms has its own hemodynamic peculiarities. The occipito- vertebral compensatory mechanism has the

  9. Clinical characteristics of abnormal savda syndrome type in human immunodeficiency virus infection and acquired immune deficiency syndrome patients: A cross-sectional investigation in Xinjiang, China.

    Science.gov (United States)

    Peierdun, Mi-ji-ti; Liu, Wen-xian; Renaguli, Ai-ze-zi; Nurmuhammat, Amat; Li, Xiao-chun; Gulibaier, Ka-ha-er; Ainivaer, Wu-la-mu; Halmurat, Upur

    2015-12-01

    To investigate the distribution of abnormal hilit syndromes in traditional Uighur medicine (TUM) among human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) patients, and to find out the clinical characteristics of abnormal savda syndrome type HIV/AIDS patients. Between June and July in 2012, 307 eligible HIV/AIDS patients from in-patient department and out-patient clinics of Xinjiang Uighur Autonomous Region the Sixth People's Hospital in Urumqi were investigated. TUM syndrome differentiation was performed by a senior TUM physician. Each participant completed a Sign and Symptom Check-List for Persons Living with HIV/AIDS (SSC-HIV) questionnaire. Depression was evaluated by using Hamilton Rating Scale for Depression Questionnaire. Blood specimen was collected from each participant to test the levels of blood chemicals. Of 307 HIV/AIDS patients, 189 (61.6%) were abnormal savda syndrome type, 118 (38.4%) were non-abnormal-savda syndrome type. Mean CD4 counts of abnormal savda syndrome type patients was (227.61±192.93) cells/µL, and the prevalence of anemia, thrombocytopenia, and elevated cystatin C were 49.7%, 28.6%, and 44.7%, which were significantly higher than those in the non-abnormal-savda syndrome type patients (26.3%, 16.0% and 25.0%,PHIV/AIDS-related symptoms such as fatigue (42.3%), back aches (40.7%), lack of appetite (33.9%), night sweats (31.7%) were more common among abnormal savda syndrome patients (PHIV/AIDS patients, and they present a more sever clinical manifestation.

  10. Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet–Biedl syndrome

    Science.gov (United States)

    Viswanathan, Vibhu Krishnan; Kanna, Rishi Mugesh; Shetty, Ajoy Prasad; Rajasekaran, S

    2017-01-01

    Bardet–Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. She underwent immediate lumbar decompression and discectomy following which she recovered significantly. Acute cauda equina syndrome due to primary lumbar canal stenosis has not been reported as a clinical feature of BBS previously. PMID:28566787

  11. Metabolic Syndrome among Type-2 Diabetic Patients in Benghazi ...

    African Journals Online (AJOL)

    Background: Metabolic syndrome is a cluster of three out of five conditions that are due to hyperinsulinemia: abdominal obesity, atherogenic dyslipidemia (high triglycerides and/or low HDL), elevated blood pressure, and elevated plasma glucose. The syndrome is highly prevalent in patients with type-2 diabetes mellitus ...

  12. The use of sugammadex in a pregnant patient with Wolff-Parkinson-White syndrome.

    Science.gov (United States)

    Sengul, Turker; Saracoglu, Ayten; Sener, Sibel; Bezen, Olgac

    2016-09-01

    Wolff-Parkinson-White (WPW) syndrome is a rare pre-excitation syndrome which develops when atrioventricular conduction occurs through a pathologic accessory pathway known as the bundle of Kent instead of atrioventricular node, hence resulting in tachycardia. Patients with WPW syndrome may experience various symptoms arising from mild-to-moderate chest disease, palpitations, hypotension, and severe cardiopulmonary dysfunction. These patients are most often symptomatic because of cardiac arrhythmias. In this case report, we present an uneventful anesthetic management of a pregnant patient with WPW syndrome undergoing cesarean delivery. A 23-year-old American Society of Anesthesiologists class 2 pregnant patient was diagnosed with WPW syndrome. Her preoperative 12-lead electrocardiogram showed a sinus rhythm at 82 beats per minute, a delta wave, and a short PR interval. After an uneventful surgery, sugammadex 2mg/kg was administered as a reversal agent instead of neostigmine. Then she was discharged to her obstetrics service. Serious hemodynamic disorders may occur in patients with WPW syndrome due to development of fatal arrhythmias. Neostigmine used as a reversal agent in general anesthesia can trigger such fatal arrhythmias by leading changes in cardiac conduction. We believe that sugammadex, which is safely used in many areas in the scope of clinical practice, can be also used for patients diagnosed with WPW syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Evaluation of the effect of RFCA in patients with WPW syndrome using RPA

    International Nuclear Information System (INIS)

    Zhang Wei; Dong Shenan; Jiang Yimin

    1996-01-01

    Whether radionuclide phase analysis (RPA) could evaluate the effect of radiofrequency current ablation (RFCA) in patients with Wolff-Parkinson-White (WPW) syndrome was evaluated. 18 patients with WPW syndrome were studied using RPA pre- and post-RFCA. RPA identified the sites of pre-excitation in all patients before RFCA. Compared with the pre-RFCA study, the sites of pre-excitation disappeared in 12 cases, disappeared gradually in 4 cases and unchanged in 2 cases. 50 RFCA was successful in the former two patterns, but failed in the last pattern. RPA can evaluate the changes of pre-excitation sites in patients with WPW syndrome before and after RFCA. It was a noninvasive and reliable method for assessing and monitoring the effect of RFCA in patients with WPW syndrome

  14. Metabolic syndrome in patients with hypertension attending a family practice clinic in Jordan.

    Science.gov (United States)

    Yasein, N; Ahmad, M; Matrook, F; Nasir, L; Froelicher, E S

    2010-04-01

    Metabolic syndrome is being reported more frequently in the Eastern Mediterranean region. Patients with hypertension attending family practice clinics in the University of Jordan Hospital between February and July 2006 were assessed for the frequency of metabolic syndrome and its individual components. Of 345 patients studied, 65% had metabolic syndrome. Females were more likely to meet Adult Treatment Panel-III criteria for the diagnosis. Diabetes mellitus was the most frequent component of metabolic syndrome in males, while low serum high-density lipoprotein cholesterol and high waist circumference ranked first and second in females. Primary care providers should be alert to the importance of screening patients with hypertension for metabolic syndrome to prevent and manage these combined conditions.

  15. Surgical management of patients with Marfan syndrome: evolution throughout the years.

    Science.gov (United States)

    Samadi, Alireza; Detaint, Delphine; Roy, Carine; Arnoult, Florence; Delorme, Gabriel; Gautier, Mathieu; Milleron, Olivier; Raoux, François; Meuleman, Catherine; Hvass, Ulrik; Hamroun, Dalil; Beroud, Christophe; Tubach, Florence; Boileau, Catherine; Jondeau, Guillaume

    2012-02-01

    To evaluate the evolution of surgical management in a large population of patients with Marfan syndrome. This is a retrospective study of patients fulfilling the Ghent criteria for Marfan syndrome, who visited the Centre de référence national pour le syndrome de Marfan et apparentés and underwent a surgical event before or during follow-up in the centre. One thousand and ninety-seven patients with Marfan syndrome, according to international criteria, came to the clinic between 1996 and 2010. Aortic surgery was performed in 249 patients (22.7%; 20 children and 229 adults), including the Bentall procedure in 140 patients (56%) and valve-sparing surgery in 88 patients (35%); a supracoronary graft was performed in 19 patients (7.6%), usually for aortic dissection. During the past 20 years, the predominant reason for aortic surgery has switched from aortic dissection to aortic dilatation, while age at surgery has tended to increase (from 32.4 ± 11.9 years to 35.2 ± 12.4 years; P=0.075). Mitral valve surgery was performed in 61 patients (5.6%; six children and 55 adults), including 37 valvuloplasties (60.6%) and 18 mitral valve replacements (29.5%). No significant difference was observed when comparing mitral valve surgery before and after 2000. Surgery performed in patients with Marfan syndrome has switched from emergency surgery for aortic dissection to elective surgery for aortic dilatation; this is associated with surgery performed at an older age despite the indication for surgery having decreased from 60mm to 50mm. No significant evolution was observed for mitral valve surgery. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  16. Higher frequency of brain abnormalities in neuromyelitis optica spectrum disorder patients without primary Sjögren's syndrome.

    Science.gov (United States)

    Gu, Li-Na; Zhang, Min; Zhu, Hui; Liu, Jing-Yao

    2016-10-01

    Neuromyelitis optica spectrum disorder often co-exists with primary Sjögren's syndrome. We compared the clinical features of 16 neuromyelitis optica spectrum disorder patients with ( n = 6) or without primary Sjögren's syndrome ( n = 10). All patients underwent extensive clinical, laboratory, and MRI evaluations. There were no statistical differences in demographics or first neurological involvement at onset between neuromyelitis optica spectrum disorder patients with and without primary Sjögren's syndrome. The laboratory findings of cerebrospinal fluid oligoclonal banding, serum C-reactive protein, antinuclear autoantibody, anti-Sjögren's-syndrome-related antigen A antibodies, anti-Sjögren's-syndrome-related antigen B antibodies, and anti-Sm antibodies were significantly higher in patients with primary Sjögren's syndrome than those without. Anti-aquaporin 4 antibodies were detectable in 67% (4/6) of patients with primary Sjögren's syndrome and in 60% (6/10) of patients without primary Sjögren's syndrome. More brain abnormalities were observed in patients without primary Sjögren's syndrome than in those with primary Sjögren's syndrome. Segments lesions (> 3 centrum) were noted in 50% (5/10) of patients without primary Sjögren's syndrome and in 67% (4/6) of patients with primary Sjögren's syndrome. These findings indicate that the clinical characteristics of neuromyelitis optica spectrum disorder patients with and without primary Sjögren's syndrome are similar. However, neuromyelitis optica spectrum disorder patients without primary Sjögren's syndrome have a high frequency of brain abnormalities.

  17. Work Ability Index, Absenteeism and Depression Among Patients with Burnout Syndrome

    OpenAIRE

    Pranjic, Nurka; Males-Bilic, Ljiljana

    2014-01-01

    Goal: The aim of this study is to estimate the association of burnout syndrome and depression; burnout syndrome and sick leave; and burnout syndrome with Work Ability Index in patients who suffer from stress at work. Material and methods: The control clinical study was conducted in the Teaching Department for Professional Pathology and Toxicology at the Primary Health Care Center Tuzla in the period from 2009 to 2014. The study included 140 patients exposed to different levels of stress at wo...

  18. Respiratory problems in patients with ectodermal dysplasia syndromes.

    Science.gov (United States)

    Fete, Timothy

    2014-10-01

    The ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by a deficiency of ectoderm- and mesoderm-derived tissues and appendages, particularly hair, skin, teeth, and nails. Many of these disorders are associated with a greater risk of respiratory disease than found in the general population. There are no published papers that comprehensively describe these findings and the possible etiologies. Patients have been reported with dramatic decrease in mucous glands in the respiratory tract. Anatomic defects, including cleft palate, that predispose to respiratory infection, are associated with several of the ED syndromes. Atopy and immune deficiencies have been shown to have a higher prevalence in ED syndromes. Clinicians who care for patients affected by ED syndromes should be aware of the potential respiratory complications, and consider evaluation for structural anomalies, atopy and immunodeficiency in individuals with recurrent or chronic respiratory symptoms. © 2014 Wiley Periodicals, Inc.

  19. Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material.

    Science.gov (United States)

    Kwon, Ahreum; Hyun, Sei Eun; Jung, Mo Kyung; Chae, Hyun Wook; Lee, Woo Jung; Kim, Tae Hyuk; Kim, Duk Hee; Kim, Ho-Seong

    2017-06-01

    Current guidelines recommend that testing for Y chromosome material should be performed only in patients with Turner syndrome harboring a marker chromosome and exhibiting virilization in order to detect individuals who are at high risk of gonadoblastoma. However, cryptic Y chromosome material is suggested to be a risk factor for gonadoblastoma in patients with Turner syndrome. Here, we aimed to estimate the frequency of cryptic Y chromosome material in patients with Turner syndrome and determine whether Y chromosome material increased the risk for development of gonadoblastoma. A total of 124 patients who were diagnosed with Turner syndrome by conventional cytogenetic techniques underwent additional molecular analysis to detect cryptic Y chromosome material. In addition, patients with Turner syndrome harboring Y chromosome cell lines had their ovaries removed prophylactically. Finally, we assessed the occurrence of gonadoblastoma in patients with Turner syndrome. Molecular analysis demonstrated that 10 patients had Y chromosome material among 118 patients without overt Y chromosome (8.5%). Six patients with overt Y chromosome and four patients with cryptic Y chromosome material underwent oophorectomy. Histopathological analysis revealed that the occurrence of gonadoblastoma in the total group was 2.4%, and gonadoblastoma occurred in one of six patients with an overt Y chromosome (16.7%) and 2 of 10 patients with cryptic Y chromosome material (20.0%). The risk of developing gonadoblastoma in patients with cryptic Y chromosome material was similar to that in patients with overt Y chromosome. Therefore, molecular screening for Y chromosome material should be recommended for all patients with Turner syndrome to detect individuals at a high risk of gonadoblastoma and to facilitate proper management of the disease.

  20. Phase analysis in patients with Wolff-Parkinson-White syndrome

    International Nuclear Information System (INIS)

    Nakajima, Kenichi; Bunko, Hisashi; Tada, Akira; Taki, Junichi; Tonami, Norihisa

    1983-01-01

    Twenty-five patients with Wolff-Parkinson-White (WPW) syndrome who underwent surgical division of the accessory conduction pathway (ACP) were studied by gated blood pool studies and phase analyses. All of 11 patients with right cardiac type (R-type) had abnormal initial phase in the right ventricle (RV), while 10 out of 14 patients with left cardiac type (L-type) had initial phase in the left ventricle (LV). However, in 4 L-type patients, there were no significant differences in the initiation of both ventricular contractions. In 10 patients who had radionuclide studies before and after surgical division of the ACP, the ventricular contraction patterns were apparently changed and the abnormal wall motions induced by the presence of ACPs disappeared. These observations indicate that the abnormal initial contraction is associated with pre-excitation of WPW syndrome. Sensitivities to identify the side of preexcitation were 100% (11/11) for R-type and 71% (10/14) for L-type. However, regarding the detection of the precise site of ACP, the agreement was 48% (12/25). Therefore, as a method of preoperative study, it seemed difficult to identify the precise localization of the ACP by phase analysis alone. Phase analysis provided interesting informations and was useful for evaluating patients with WPW syndrome before and after surgery. (author)

  1. Magnetic resonance imaging findings in patients with Hallervorden-Spatz syndrome

    International Nuclear Information System (INIS)

    Nomura, Cesar Higa; Lima, Eduardo Carneiro; Cerri, Giovanni Guido; Leite, Claudia da Costa; Rosemberg, Sergio

    2003-01-01

    The objective of this study was to review the magnetic resonance imaging findings in patients with Hallervorden-Spatz syndrome. We evaluated eight patients with Hallervorden-Spatz syndrome using magnetic resonance imaging. The protocol included at least sagittal and axial T1-weighted images and axial and coronal T2-weighted images. Intravenous gadolinium was administered in a dose of 0.1 mmol/kg. Post-enhanced images were obtained at least in the axial and coronal planes. The results were: all patients presented a bilateral and symmetrical 'tiger-eye signal' on T2-weighted images, corresponding to central hyperintensity and peripheral hypointensity in the globi pallidus. FLAIR and diffusion images showed similar abnormalities. There was no gadolinium enhancement in any of the cases. We concluded that magnetic resonance imaging findings in patients with Hallervorden-Spatz syndrome are very typical and allow the diagnosis of the disease. (author)

  2. Multiple abdominal cysts in a patient with Gorlin-Goltz syndrome: a case report.

    Science.gov (United States)

    Haenen, F; Hubens, G; Creytens, D; Vaneerdeweg, W

    2013-01-01

    A rare case of symptomatic mesenteric cysts in a patient with Gorlin-Goltz syndrome, associated with various neoplasms, is presented. The patient, known with Gorlin-Goltz syndrome, consulted with increasingly severe abdominal pain and large abdominal cysts. At surgery, the cysts were excised and the postoperative course was uneventful. In conclusion, this case reminds clinicians to always maintain a wide differential diagnosis when dealing with patients known with Gorlin-Goltz syndrome.

  3. Abdominal Computed tomography of 25 patients with AIDS or lymphadenopathy Syndrome

    International Nuclear Information System (INIS)

    Arrive, L.; Frija, J.; Couderc, L.J.; Clauvel, J.P.; Laval-Jeantet, M.; Matheron, S.

    1986-01-01

    An abdominal computed tomographic examination was performed to 20 patients with Acquired Immunodeficiency Syndrome (AIDS) and to 5 patients with Lymphadenopathy Syndrome (LAS). Intraabdominal lymph nodes were seen in 18 out of 20 cases of AIDS and in 5 cases of LAS. Lymph nodes have a normal size or are slightly enlarged but they are too numerous. Splenomegaly was found in 17 patients. Rectal modifications secondary to a proctitis were seen in the homosexual patients [fr

  4. Significant fibrosis after radiation therapy in a patient with Marfan Syndrome

    International Nuclear Information System (INIS)

    Suarez, Eva M.; Knackstedt, Rebecca J.; Jenrette, Joseph M.

    2014-01-01

    Marfan syndrome is one of the collagen vascular diseases that theoretically predisposes patients to excessive radiation-induced fibrosis yet there is minimal published literature regarding this clinical scenario. We present a patient with a history of Marfan syndrome requiring radiation for a diagnosis of a right brachial plexus malignant nerve sheath tumor. It has been suggested that plasma transforming growth factor beta 1 (TGF-beta1) can be monitored as a predictor of subsequent fibrosis in this population of high risk patients. We therefore monitored the patient's TGF-beta1 level during and after treatment. Despite maintaining stable levels of plasma TGF-beta1, our patient still developed extensive fibrosis resulting in impaired range of motion. Our case reports presents a review of the literature of patients with Marfan syndrome requiring radiation therapy and the limitations of serum markers on predicting long-term toxicity.

  5. Significant fibrosis after radiation therapy in a patient with Marfan Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Suarez, Eva M.; Knackstedt, Rebecca J.; Jenrette, Joseph M. [Medical University of South Carolina, Charleston (United States)

    2014-09-15

    Marfan syndrome is one of the collagen vascular diseases that theoretically predisposes patients to excessive radiation-induced fibrosis yet there is minimal published literature regarding this clinical scenario. We present a patient with a history of Marfan syndrome requiring radiation for a diagnosis of a right brachial plexus malignant nerve sheath tumor. It has been suggested that plasma transforming growth factor beta 1 (TGF-beta1) can be monitored as a predictor of subsequent fibrosis in this population of high risk patients. We therefore monitored the patient's TGF-beta1 level during and after treatment. Despite maintaining stable levels of plasma TGF-beta1, our patient still developed extensive fibrosis resulting in impaired range of motion. Our case reports presents a review of the literature of patients with Marfan syndrome requiring radiation therapy and the limitations of serum markers on predicting long-term toxicity.

  6. [Cochlear implantation in patients with Waardenburg syndrome type II].

    Science.gov (United States)

    Wan, Liangcai; Guo, Menghe; Chen, Shuaijun; Liu, Shuangriu; Chen, Hao; Gong, Jian

    2010-05-01

    To describe the multi-channel cochlear implantation in patients with Waardenburg syndrome including surgeries, pre and postoperative hearing assessments as well as outcomes of speech recognition. Multi-channel cochlear implantation surgeries have been performed in 12 cases with Waardenburg syndrome type II in our department from 2000 to 2008. All the patients received multi-channel cochlear implantation through transmastoid facial recess approach. The postoperative outcomes of 12 cases were compared with 12 cases with no inner ear malformation as a control group. The electrodes were totally inserted into the cochlear successfully, there was no facial paralysis and cerebrospinal fluid leakage occurred after operation. The hearing threshold in this series were similar to that of the normal cochlear implantation. After more than half a year of speech rehabilitation, the abilities of speech discrimination and spoken language of all the patients were improved compared with that of preoperation. Multi-channel cochlear implantation could be performed in the cases with Waardenburg syndrome, preoperative hearing and images assessments should be done.

  7. Quality of life in patients with depression, panic syndrome, other anxiety syndrome, alcoholism and chronic somatic diseases: a longitudinal study in Slovenian primary care patients.

    Science.gov (United States)

    Cerne, Anja; Rifel, Janez; Rotar-Pavlic, Danica; Svab, Igor; Selic, Polona; Kersnik, Janko

    2013-01-01

    To analyse the correlates between the quality of life and chronic diseases and socio-demographic characteristics of patients in family medicine with a special emphasis on depression, panic syndrome, other anxiety syndrome and alcoholism. In a longitudinal study, the data set of 516 family practice attendees recruited from 60 family practices was analysed. Depression, panic syndrome, other anxiety syndrome and alcoholism were diagnosed using appropriate diagnostic interviews. Quality of life was assessed using the SF-12 questionnaire, measuring a mental health score and a physical health score. Data about the number of chronic somatic diseases were obtained from the patients' medical records. Physical health score was negatively associated with higher age (β = -0.25, p chronic somatic diseases (β = -0.10, p chronic somatic diseases as they are associated with poorer quality of life.

  8. A Brazilian cohort of patients with Tourette's syndrome.

    Science.gov (United States)

    Cardoso, F; Veado, C C; de Oliveira, J T

    1996-01-01

    The clinical features of 32 patients (24 males) with Tourette's syndrome in Brazil were studied. The mean age at onset was 7.1 years, tics being the first symptom in 71% and hyperactivity in 29%. Blinking, grimacing, and shoulder elevation were the most common motor tics and sniffing, throat clearing, and grunting noises, the most frequent vocal tics. Coprolalia was present in 28%, echolalia in 16%, palilalia in 9%, and copropraxia in 25% of patients. Attention deficit and hyperactivity disorder was diagnosed in 63%, and obsessive compulsive behaviour in 44% of patients. In 84% of patients there was a family history of tics whereas attention deficit and hyperactivity disorder and obsessive compulsive behaviour were respectively present in relatives of 19% and 53% of the patients studied. These data suggest that Tourette's syndrome in Brazil is not clinically different from other countries, supporting the notion that genetic factors play the most important part in its aetiology. PMID:8708658

  9. Epidemiological and clinical characteristics of Reiter's syndrome in Jordanian patients

    International Nuclear Information System (INIS)

    Al-Mrayat, Z.; Abdallat, S.; Marabha, T.

    2004-01-01

    Objective: To study the epidemiological and clinical features of Reiter's syndrome in patients who visited the rheumatology clinic in King Hussein Medical Centre (KHMC), Jordan. Methods: A prospective study, including 43 patients with the diagnosis of Reiter's syndrome was done. Patients were assessed by taking complete history, physical examination and appropriate investigations including urinalysis and culture, stool examination and culture, synovial fluid analysis, complement fixation test for Chlamydia trachomatis, complete blood count, erythrocyte sedimentation rate, rheumatoid factor, antinuclear antibodies. HLA-B27 and radiological study. Results: All patients in this study were white men, with mean age of 26.3 years. HLA-B27 was positive in 37 patients (86%). Most cases were post venereal (32 patients, 74%) while the rest were dysenteric. The clinical manifestations were arthritis in all patients (100%), urethritis in 21 patients (48%), ocular involvement in 20 patients (46%), diarrhea in 12 patients (28%), painless oral ulcers in 11 patients (26%), skin lesions in 5 patients (12%) and constitutional symptoms in 7 patients (16%). Arthritis was mostly oligoarticular (25 patients, 58%) with asymmetrical pattern in 34 patients (78%). Large joints of lower extremity were most involved (29 patients, 68%). Rheumatoid factor and antinuclear antibodies were negative in all patients. Relapses occurred in 7 patients (16%) after a mean period of 6.2 months. Conclusion: It is concluded that the epidemiological and clinical features of Reiter's syndrome in Jordan are not different from those in the literature. (author)

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1996-09-01

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

  11. Severity of psychosis syndrome and change of metabolic abnormality in chronic schizophrenia patients: severe negative syndrome may be related to a distinct lipid pathophysiology.

    Science.gov (United States)

    Chen, S-F; Hu, T-M; Lan, T-H; Chiu, H-J; Sheen, L-Y; Loh, E-W

    2014-03-01

    Metabolic abnormality is common among schizophrenia patients. Some metabolic traits were found associated with subgroups of schizophrenia patients. We examined a possible relationship between metabolic abnormality and psychosis profile in schizophrenia patients. Three hundred and seventy-two chronic schizophrenia patients treated with antipsychotics for more than 2 years were assessed with the Positive and Negative Syndrome Scale. A set of metabolic traits was measured at scheduled checkpoints between October 2004 and September 2006. Multiple regressions adjusted for sex showed negative correlations between body mass index (BMI) and total score and all subscales; triglycerides (TG) was negatively correlated with total score and negative syndrome, while HDLC was positively correlated with negative syndrome. When sex interaction was concerned, total score was negatively correlated with BMI but not with others; negative syndrome was negatively correlated with BMI and positively with HDLC. No metabolic traits were correlated with positive syndrome or general psychopathology. Loss of body weight is a serious health problem in schizophrenia patients with severe psychosis syndrome, especially the negative syndrome. Schizophrenia patients with severe negative syndrome may have a distinct lipid pathophysiology in comparison with those who were less severe in the domain. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  12. Quantitative Sensory Testing in Patients With Postthoracotomy Pain Syndrome

    DEFF Research Database (Denmark)

    Wildgaard, Kim; Ringsted, Thomas K; Kehlet, Henrik

    2013-01-01

    -retest variability of thermal thresholds in patients (n=14) with the postthoracotomy pain syndrome. METHODS:: Sensory mapping with a metal roller (25°C) on the surgical side delineated an area with cool sensory dysfunction. In this area and in a contralateral area, 4 prespecified sites (2.6 cm) were outlined...... was demonstrated, the much lower within-patient than between-patient variances facilitated estimations of highly statistical significant, within-patient differences in thermal thresholds. DISCUSSION:: In patients with postthoracotomy pain syndrome, several statistical methods indicated an excessively high......, in addition to the maximum pain site on the surgical side. In these total 9 sites, warmth detection threshold, cool detection threshold, and heat pain threshold were assessed. RESULTS:: Comparisons of thermal test-retest assessments did not demonstrate any significant intraside differences. The SDs...

  13. Settlement-Size Scaling among Prehistoric Hunter-Gatherer Settlement Systems in the New World.

    Directory of Open Access Journals (Sweden)

    W Randall Haas

    Full Text Available Settlement size predicts extreme variation in the rates and magnitudes of many social and ecological processes in human societies. Yet, the factors that drive human settlement-size variation remain poorly understood. Size variation among economically integrated settlements tends to be heavy tailed such that the smallest settlements are extremely common and the largest settlements extremely large and rare. The upper tail of this size distribution is often formalized mathematically as a power-law function. Explanations for this scaling structure in human settlement systems tend to emphasize complex socioeconomic processes including agriculture, manufacturing, and warfare-behaviors that tend to differentially nucleate and disperse populations hierarchically among settlements. But, the degree to which heavy-tailed settlement-size variation requires such complex behaviors remains unclear. By examining the settlement patterns of eight prehistoric New World hunter-gatherer settlement systems spanning three distinct environmental contexts, this analysis explores the degree to which heavy-tailed settlement-size scaling depends on the aforementioned socioeconomic complexities. Surprisingly, the analysis finds that power-law models offer plausible and parsimonious statistical descriptions of prehistoric hunter-gatherer settlement-size variation. This finding reveals that incipient forms of hierarchical settlement structure may have preceded socioeconomic complexity in human societies and points to a need for additional research to explicate how mobile foragers came to exhibit settlement patterns that are more commonly associated with hierarchical organization. We propose that hunter-gatherer mobility with preferential attachment to previously occupied locations may account for the observed structure in site-size variation.

  14. What's in a Gene? Pseudoexfoliation Syndrome and Pigment Dispersion Syndrome in the Same Patient.

    Science.gov (United States)

    Pokrovskaya, Olya; O'Brien, Colm

    2016-01-01

    Pseudoexfoliation syndrome (PXS) and pigment dispersion syndrome (PDS) are two of the commonest disorders to produce secondary open-angle glaucoma through trabecular meshwork blockage. Each is a defined clinical entity, and while genetics likely play a significant role in the pathogenesis of both, the specific genes involved appear to be distinct. There is surprisingly little published in the literature regarding the coexistence of PDS and PXS in the same patient. We present the intriguing case of a patient who developed PDS in one eye and PXS in the other. This unusual case acts as a platform for an interesting discussion of the genomics of PXS and PDS.

  15. What's in a Gene Pseudoexfoliation Syndrome and Pigment Dispersion Syndrome in the Same Patient

    Directory of Open Access Journals (Sweden)

    Olya Pokrovskaya

    2016-01-01

    Full Text Available Pseudoexfoliation syndrome (PXS and pigment dispersion syndrome (PDS are two of the commonest disorders to produce secondary open-angle glaucoma through trabecular meshwork blockage. Each is a defined clinical entity, and while genetics likely play a significant role in the pathogenesis of both, the specific genes involved appear to be distinct. There is surprisingly little published in the literature regarding the coexistence of PDS and PXS in the same patient. We present the intriguing case of a patient who developed PDS in one eye and PXS in the other. This unusual case acts as a platform for an interesting discussion of the genomics of PXS and PDS.

  16. Skeletal and dermatological manifestations of the nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Results of 8 patients in 12 years

    International Nuclear Information System (INIS)

    Rupprecht, M.; Barvencik, F.; Amling, M.; Pogoda, P.; Universitaetsklinikum Hamburg-Eppendorf; Mensing, C.H.; Ittrich, H.; Heiland, M.; Rueger, J.M.

    2007-01-01

    Purpose: In 1960 Gorlin and Goltz defined the nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz Syndrome) as a syndrome comprising multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. NBCCS is an autosomal dominantly inherited disease with an estimated prevalence of 1:150 000 and diagnosis of this syndrome is often an accidental finding of radiological investigations. The purpose of this study was to report the varied radiological and dermatological manifestations of our patients affected with NBCCS and to present this rare syndrome as a differential diagnosis of skeletal anomalies. Materials and Methods: Between 1994 and 2005 the demographic, clinical, radiological and histological data of 8 patients with NBCCS were retrospectively analyzed. Nevoid basal cell carcinoma syndrome was diagnosed in the event of two major or one major and two minor criteria. The major criteria are more than 2 basal cell carcinoma, odontogenic keratocysts, three or more palmar pits, and calcification of the falx cerebri. Results: Between 1994 and 2005 8 patients (3 females and 5 males) with NBCCS were treated in our departments. The average age at the time of diagnosis of NBCCS was 49.9 years. All patients had a minimum of two major criteria. The major criteria with the most frequency were the basal cell carcinoma (6 patients) and the odontogenic keratocysts (5 patients), followed by the calcification of the falx cerebri and palmoplantar pits (4 patients). There was no gender-related or age-related predilection and only one patient was affected with pain in his fingers which radiologically correlated to small cystic bone lesions (''flame-shaped lucencies''). (orig.)

  17. Airway Management in a Patient with Wolf-Hirschhorn Syndrome.

    Science.gov (United States)

    Gamble, John F; Kurian, Dinesh J; Udani, Andrea G; Greene, Nathaniel H

    2016-01-01

    We present a case of a 3-month-old female with Wolf-Hirschhorn syndrome (WHS) undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. WHS is a rare 4p microdeletion syndrome resulting in multiple congenital abnormalities, including craniofacial deformities. Microcephaly, micrognathia, and glossoptosis are common features in WHS patients and risk factors for a pediatric airway that is potentially difficult to intubate. We discuss anesthesia strategies for airway preparation and management in a WHS patient requiring general anesthesia with endotracheal intubation.

  18. Universal Point of Care Testing for Lynch Syndrome in Patients with Upper Tract Urothelial Carcinoma.

    Science.gov (United States)

    Metcalfe, Michael J; Petros, Firas G; Rao, Priya; Mork, Maureen E; Xiao, Lianchun; Broaddus, Russell R; Matin, Surena F

    2018-01-01

    Patients with Lynch syndrome are at risk for upper tract urothelial carcinoma. We sought to identify the incidence and most reliable means of point of care screening for Lynch syndrome in patients with upper tract urothelial carcinoma. A total of 115 consecutive patients with upper tract urothelial carcinoma without a history of Lynch syndrome were universally screened during followup from January 2013 through July 2016. We evaluated patient and family history using AMS (Amsterdam criteria) I and II, and tumor immunohistochemistry for mismatch repair proteins and microsatellite instability. Patients who were positive for AMS I/II, microsatellite instability or immunohistochemistry were classified as potentially having Lynch syndrome and referred for clinical genetic analysis and counseling. Patients with known Lynch syndrome served as positive controls. Of the 115 patients 16 (13.9%) screened positive for potential Lynch syndrome. Of these patients 7.0% met AMS II criteria, 11.3% had loss of at least 1 mismatch repair protein and 6.0% had high microsatellite instability. All 16 patients were referred for germline testing, 9 completed genetic analysis and counseling, and 6 were confirmed to have Lynch syndrome. All 7 patients with upper tract urothelial carcinoma who had a known history of Lynch syndrome were positive for AMS II criteria and at least a single mismatch repair protein loss while 5 of 6 had high microsatellite instability. We identified 13.9% of upper tract urothelial carcinoma cases as potential Lynch syndrome and 5.2% as confirmed Lynch syndrome at the point of care. These findings have important implications for universal screening of upper tract urothelial carcinoma, representing one of the highest rates of undiagnosed genetic disease in a urological cancer. Copyright © 2018 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  19. A patient with Marfan syndrome in a general practitioner’s office

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    Magdalena Czerżyńska

    2015-06-01

    Full Text Available Marfan syndrome is a disorder of the connective tissue (fibrillins and elastins. It is an autosomal dominant disease associated with a defect of chromosome 15 which encodes fibrillin-1. The syndrome is characterised by a varying extent of connective tissue disorders. A mutation in the gene encoding connective tissue can be manifested in all organs irrespective of the patient’s age. This disorder is characterised by multiple symptoms manifested mainly in the cardiovascular and skeletal systems as well as in the organ of vision. Ghent criteria are commonly recognised in the diagnosis of Marfan syndrome. Moreover, clinical symptoms reported by patients should also be considered. Patients presenting at the office of a general practitioner with symptoms resembling Marfan-like syndromes should undergo a detailed medical interview for the presence of cardiovascular diseases in the family. A general practitioner should examine the patient, drawing particular attention to organs that are frequently affected by disorders of connective tissue encoding (chest, oral cavity and general body stature. The family of a patient with Marfan syndrome should be referred to a genetic clinic to conduct tests for the presence of gene mutation. The diagnosis of Marfan syndrome in neonates is complex since not all symptoms of the syndrome are clinically manifested. In female patients with Marfan syndrome, pregnancy is contraindicated if the size of the aorta exceeds 50 mm. In other cases, women must be informed about possible risks and monitored for a change in the width of the aorta. Sometimes, procedures of prophylactic aortic replacement on its entire course are conducted prior to a planned pregnancy. Regular echocardiographic check-ups (every 4–7 weeks as well as cooperation of a gynaecologist and cardiologist are necessary. A general practitioner should inform the patient’s family about any sudden conditions that

  20. Determinants of plasma homocyst(e)ine in patients with nephrotic syndrome.

    Science.gov (United States)

    Joven, J; Arcelús, R; Camps, J; Ordóñez-Llanos, J; Vilella, E; González-Sastre, F; Blanco-Vaca, F

    2000-01-01

    Hyperhomocyst(e)inemia is an independent risk factor for atherothrombosis in several clinical settings in which renal function is impaired, but its prevalence in the nephrotic syndrome has not been investigated in detail, even though this syndrome provides an excellent model in which to study a possible link between albuminuria, proteinuria, and hyperhomocyst(e)inemia. We obtained plasma and urine from 27 patients with biopsy-confirmed membranous glomerulonephritis presenting nephrotic syndrome and 27 matched controls and determined the concentrations of homocyst(e)ine and proteins considered putative markers of glomerular and tubular function. Hyperhomocyst(e)inemia, defined as the mean +SD of the plasma homocyst(e)ine concentration of the controls [plasma homocyst(e)ine concentration >10.8 micromol/l] was present in 26% of the patients with nephrotic syndrome but in only 7.4% of the controls. Furthermore, the degree of hyperhomocyst(e)inemia was more severe in the nephrotic patients than in the controls. The existence of renal failure, tubular damage, and, interestingly, relatively well conserved glomerular function barrier were the main predictors of increased levels of plasma homocyst(e)ine. In conclusion, hyperhomocyst(e)inemia is a frequent cardiovascular risk factor present in patients with nephrotic syndrome and renal failure, but it is not directly associated with proteinuria.

  1. Depression is associated with the metabolic syndrome among patients with type 1 diabetes.

    Science.gov (United States)

    Ahola, Aila J; Thorn, Lena M; Saraheimo, Markku; Forsblom, Carol; Groop, Per-Henrik

    2010-10-01

    Both depression and the metabolic syndrome are frequently found among patients with type 1 diabetes, but their potential association has not yet been investigated. In this paper the relationship between depression and the metabolic syndrome among patients with type 1 diabetes was evaluated. A total of 1226 patients participating in the Finnish Diabetic Nephropathy Study between 2003 and 2009 were included. Depression was defined as use of antidepressive medication or Beck Depression Inventory (BDI) score ≥16. The metabolic syndrome was defined using the criteria established by the International Diabetes Federation Task Force on Epidemiology and Prevention (IDF); National Heart, Lung, and Blood Institute (NHLBI); American Heart Association (AHA); World Heart Federation (WHF); International Atherosclerosis Society (IAS); and International Association for the Study of Obesity (IASO). The metabolic syndrome was more frequently observed among depressed patients (57% versus 46%, P = 0.008). Of the individual components of the metabolic syndrome, waist, triglyceride, and HDL components were more frequently fulfilled among patients with depression. The BDI score increased with the number of components of the metabolic syndrome present. The BDI score was independently associated with the waist component (odds ratio 1.03, 95% confidence interval 1.01-1.05) when adjusted for gender, age, socio-economic status, smoking, nephropathy, and HbA(1c). The metabolic syndrome is frequently found among depressed patients with type 1 diabetes. Whether this association influences the development of diabetic complications is not known.

  2. Molecular characterization of Histoplasma capsulatum isolated from an outbreak in treasure hunters Histoplasma capsulatum in treasure hunters

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    Muñoz Bertha

    2010-09-01

    Full Text Available Abstract Background In Mexico, primary pulmonary histoplasmosis is the most relevant clinical form of the disease. The geographical distribution of specific strains of Histoplasma capsulatum circulating in Mexico has not been fully established. Outbreaks must be reported in order to have current, updated information on this disease, identifying new endemic areas, manner of exposure to the fungi, and molecular characterization of the causative agents. We report a recent outbreak of histoplasmosis in treasure hunters and the molecular characterization of two isolates obtained from these patients. Methods Six patients admitted to the National Institute of Respiratory Diseases (INER in Mexico City presented severe respiratory symptoms suggestive of histoplasmosis. They acquired the infection in the Veracruz (VZ endemic zone. Diagnosis was made by X-ray and Computed tomography (CT, liver function, immunological techniques, and culture. Identification of H. capsulatum isolates was confirmed by using Polymerase chain reaction (PCR was conducted with a probe from the M antigen, and the isolates were characterized by means of Random amplification of polymorphic DNA (RAPD-PCR employed the 1253 oligonucleotide and a mixture of oligonucleotides 1281 and 1283. These were compared to eight reference strain isolates from neighboring areas. Results X-ray and CT revealed disseminated micronodular images throughout lung parenchyma, as well as bilateral retrocaval, prevascular, subcarinal, and hilar adenopathies, hepatosplenomegaly, and altered liver function tests. Five of the six patients developed disseminated histoplasmosis. Two H. capsulatum strains were isolated. The same band profile was detected in both strains, indicating that both isolates corresponded to the sole H. capsulatum strain. Molecular characterization of the isolates was similar in 100% with the EH-53 Hidalgo human (HG strain (reference strain integrated into the LAm A clade described for

  3. Impact of caloric intake in critically ill patients with, and without, refeeding syndrome: A retrospective study.

    Science.gov (United States)

    Olthof, Laura E; Koekkoek, W A C Kristine; van Setten, Coralien; Kars, Johannes C N; van Blokland, Dick; van Zanten, Arthur R H

    2017-08-10

    Refeeding syndrome comprises metabolic disturbances that occur after the reintroduction of feeding after prolonged fasting. Standard care consists of correcting fluid and electrolytes imbalances. Energy intake during refeeding syndrome is heavily debated. This study addresses the effect of caloric intake on outcome during the management of refeeding syndrome. A retrospective study among critically ill invasive mechanically ventilated patients admitted for >7 days to a medical-surgical ICU. Refeeding syndrome was diagnosed by the occurrence of new onset hypophosphatemia (refeeding syndrome were compared and subgroup analysis on energy intake within the refeeding population was performed for the duration of survival. Of 337 enrolled patients, 124 (36.8%) developed refeeding syndrome and 213 patients (63.2%) maintained normal serum phosphate levels. Between the two groups, no statistical significant differences in clinical outcomes were observed. Within the refeeding syndrome group, a reduced 6-month mortality risk for low caloric intake (Refeeding syndrome is common among prolonged mechanically ventilated critically ill patients, however not predictable by baseline characteristics. Among patients that develop refeeding syndrome low caloric intake was associated with a reduction in 6-month mortality risk. This effect was not seen in patients without refeeding syndrome. Findings support caloric restriction in refeeding syndrome during critical illness. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  4. Gender inequality in acute coronary syndrome patients at Omdurman Teaching Hospital, Sudan.

    Science.gov (United States)

    Mirghani, Hyder O; Elnour, Mohammed A; Taha, Akasha M; Elbadawi, Abdulateef S

    2016-01-01

    Gender differences among patients with the acute coronary syndrome is still being debated, no research has been done on gender inequality among coronary syndrome patients in Sudan. To study gender differences in presentation, management, and outcomes of acute coronary syndrome in Sudan. This cross-sectional descriptive longitudinal study was conducted in Omdurman Teaching Hospital between July 2014 and August 2015. Patients were invited to sign a written informed consent form, were interviewed and examined by a physician, and then followed during their hospital stay. Information collected includes coronary risk factors, vital signs, echocardiography findings, arrhythmias, heart failure, cardiogenic shock, and death. The Ethical Committee of Omdurman Teaching Hospital approved the research. A total of 197 consecutive acute coronary syndrome patients were included, 43.1% were females. A significant statistical difference was evident between males and females regarding the type of acute coronary syndrome, its presentation, and time of presentation to the hospital, smoking, and receipt of thrombolysis (P 0.05). Women were less likely to receive thrombolytic therapy, present with chest pain, and diagnosed with ST-segment elevation myocardial infarction. No gender differences were found in acute coronary syndrome risk factors apart from smoking, which was more common in males, and there were no differences between males and females as regards in-hospital complications.

  5. SICK SINUS SYNDROME IN PATIENTS WITH ACUTE CEREBROVASCULAR ACCIDENTS

    Directory of Open Access Journals (Sweden)

    E. K. Kazakova

    2015-01-01

    Full Text Available The article presents a clinical case of 2 patients with heart arrhythmias of the sick sinus syndrome type, who were implanted electriccardiac pacemakers in the acute period of cerebrovascular accidents. There were no cardiac complaints in the clinical manifestation, however, a comprehensive assessment confirmed the diagnosis of sick sinus syndrome.

  6. Traditional Chinese Medicine Syndromes for Essential Hypertension: A Literature Analysis of 13,272 Patients

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    Jie Wang

    2014-01-01

    Full Text Available Background. To simplify traditional Chinese medicine syndrome differentiation and allow researchers to master syndrome differentiation for hypertension, this paper retrospectively studied the literature and analyzed syndrome elements corresponding to hypertension syndromes. Methods. Six databases including PubMed, EMBASE, Chinese Bio-Medical Literature Database, Chinese National Knowledge Infrastructure, Chinese Scientific Journal Database, and Wan-fang Data were searched from 1/January/2003 to 30/October/2013. We included all clinical literature testing hypertension syndromes and retrospectively studied the hypertension literature published from 2003 to 2013. Descriptive statistics calculated frequencies and percentages. Results. 13,272 patients with essential hypertension were included. Clinical features of hypertension could be attributed to 11 kinds of syndrome factors. Among them, seven syndrome factors were excess, while four syndrome factors were deficient. Syndrome targets were mainly in the liver and related to the kidney and spleen. There were 33 combination syndromes. Frequency of single-factor syndromes was 31.77% and frequency of two-factor syndromes was 62.26%. Conclusions. Excess syndrome factors of hypertension patients include yang hyperactivity, blood stasis, phlegm turbidity, internal dampness, and internal fire. Deficient syndrome factors of hypertension patients are yin deficiency and yang deficiency. Yin deficiency with yang hyperactivity, phlegm-dampness retention, and deficiency of both yin and yang were the three most common syndromes in clinical combination.

  7. Hematological abnormalities in adult patients with Down's syndrome.

    LENUS (Irish Health Repository)

    McLean, S

    2012-02-01

    BACKGROUND: There is a paucity of data regarding hematological abnormalities in adults with Down\\'s syndrome (DS). AIMS: We aimed to characterize hematological abnormalities in adult patients with DS and determine their long-term significance. METHODS: We retrospectively studied a cohort of nine DS patients referred to the adult hematology service in our institution between May 2001 and April 2008. Data collected were: full blood count (FBC), comorbidities, investigations performed, duration of follow-up and outcome to most recent follow-up. RESULTS: Median follow-up was 26 months (9-71). Of the nine patients, two had myelodysplastic syndrome (MDS) at presentation. Of these, one progressed, with increasing marrow failure, and requiring support with transfusions and gCSF. The remaining eight patients, with a variety of hematological abnormalities including leukopenia, macrocytosis, and thrombocytopenia, had persistently abnormal FBCs. However there was no evidence of progression, and no patient has evolved to acute myeloid leukemia (AML). CONCLUSIONS: MDS is a complication of DS and may require supportive therapy. However, minor hematological abnormalities are common in adult DS patients, and may not signify underlying marrow disease.

  8. Cushing's syndrome and bone mineral density: lowest Z scores in young patients.

    NARCIS (Netherlands)

    Eerden, A.W.A.; Heijer, M. den; Oyen, W.J.G.; Hermus, A.R.M.M.

    2007-01-01

    Background: Patients with Cushing's syndrome have a high prevalence of osteoporotic fractures. Little is known about factors determining bone mineral density (BMD) in these patients. Objective: To evaluate which factors influence BMD at the time of diagnosis of Cushing's syndrome. Methods: In 77

  9. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

    Science.gov (United States)

    Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

    2011-11-05

    To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  10. Decreased serum levels of brain-derived neurotrophic factor in schizophrenic patients with deficit syndrome

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    Akyol ES

    2015-03-01

    Full Text Available Esra Soydas Akyol,1 Yakup Albayrak,2 Murat Beyazyüz,3 Nurkan Aksoy,4 Murat Kuloglu,5 Kenji Hashimoto6 1Deparment of Psychiatry, Yenimahalle Education and Research Hospital, Ankara, Turkey; 2Department of Psychiatry, Faculty of Medicine, Namik Kemal University, Tekirdag, Turkey; 3Department of Psychiatry, Biga State Hospital, Çanakkale, Turkey; 4Department of Biochemistry, Yenimahalle Education and Research Hospital, Ankara, Turkey; 5Department of Psychiatry, Faculty of Medicine, Akdeniz University, Antalya, Turkey; 6Division of Clinical Neuroscience, Chiba University Center for Forensic Mental Health, Chiba, Japan Background: Brain-derived neurotrophic factor (BDNF is a well-established neurotrophin that plays a role in the pathophysiology of numerous psychiatric disorders. Many studies have investigated the serum BDNF levels in patients with schizophrenia. However, there are restricted data in the literature that compare the serum BDNF levels in patients with deficit and nondeficit syndromes. In this study, we aimed to compare the serum BDNF levels between schizophrenic patients with deficit or nondeficit syndrome and healthy controls.Methods: After fulfilling the inclusion and exclusion criteria, 58 patients with schizophrenia and 36 healthy controls were included in the study. The patients were grouped as deficit syndrome (N=23 and nondeficit syndrome (N=35 according to the Schedule for the Deficit Syndrome. Three groups were compared in terms of the sociodemographic and clinical variants and serum BDNF levels.Results: The groups were similar in terms of age, sex, body mass index, and smoking status. The serum BDNF levels in patients with deficit syndrome were significantly lower than those in healthy controls. In contrast, the serum BDNF levels in patients with nondeficit syndrome were similar to those in healthy controls.Conclusion: This study suggests that decreased BDNF levels may play a role in the pathophysio­logy of schizophrenic

  11. Research advances in traditional Chinese medicine syndromes in cancer patients.

    Science.gov (United States)

    Ji, Qing; Luo, Yun-quan; Wang, Wen-hai; Liu, Xuan; Li, Qi; Su, Shi-bing

    2016-01-01

    Traditional Chinese medicine (TCM) syndrome, also known as TCM ZHENG or TCM pattern, is an integral and essential part of TCM theory that helps to guide the design of individualized treatments. A TCM syndrome, in essence, is a characteristic profile of all clinical manifestations in one patient that can be readily identified by a TCM practitioner. In this article, the authors reviewed the presentations of TCM syndromes in seven common malignancies (liver, lung, gastric, breast, colorectal, pancreatic and esophageal cancers), the objectivity and the standardization of TCM syndrome differentiation, the evaluation of TCM syndrome modeling in cancer research, and syndrome differentiation-guided TCM treatment of cancers. A better understanding of TCM syndrome theory, as well as its potential biological basis, may contribute greatly to the clinical TCM diagnosis and the treatment of cancer.

  12. Refeeding syndrome in a vegan patient with stage IV gastric cancer: a novel case.

    Science.gov (United States)

    Brown, Teresa V; Moss, Rebecca A

    2015-03-01

    The refeeding syndrome encompasses the complex physiologic state that occurs in malnourished patients who receive nutrition after a period of decreased oral intake. The hallmark of the syndrome is hypophosphatemia, though other electrolyte imbalances and severe fluid shifts are commonly involved. Patients with newly diagnosed malignancies and those undergoing treatment for malignancies are at increased risk for developing the refeeding syndrome, however there are few reported cases or other data in the oncology literature regarding this syndrome in cancer patients. ©2015 Frontline Medical Communications.

  13. Increased Risk of Metabolic Syndrome in Patients with Vitiligo.

    Science.gov (United States)

    Ataş, Hatice; Gönül, Müzeyyen

    2017-05-05

    Inflammatory and immune processes can be triggered in vitiligo due to a decreased number of melanocytes and their anti-inflammatory effects. Because of the systemic nature of vitiligo, metabolic abnormalities such as insulin resistance and lipid profile disturbances as well as skin involvement may be observed in vitiligo. To investigate the association between metabolic syndrome and vitiligo. Case-control study. The demographic, clinical and laboratory features in the subjects were compared according to presence of vitiligo and metabolic syndrome [patients (n=63) vs. gender-age matched controls (n=65) and metabolic syndrome positive (n=38) vs. negative (n=90)]. A logistic regression analysis was also used. We identified metabolic syndrome in 24 (38.1%) subjects with vitiligo and 14 (21.5%) subjects without vitiligo (p=0.04). Active vitiligo, segmental vitiligo, an increased duration of vitiligo and an increased percentage in the affected body surface area were determined to be independent predictors of metabolic syndrome [activity of vitiligo: p=0.012, OR (95% CI)=64.4 (2.5-1672); type of vitiligo: p=0.007, OR (95% CI)=215.1 (4.3-10725.8); duration of vitiligo: p=0.03, OR (95% CI)=1.4 (1.1-2.0); percentage of affected body surface area: p=0.07, OR (95% CI)=1.2 (0.98-1.5)]. The risk of developing metabolic syndrome is increased in patients with vitiligo. The poor clinical features of vitiligo, such as active, extended and segmental vitiligo with an increased duration of time, are independent predictors for developing metabolic syndrome.

  14. Airway Management in a Patient with Wolf-Hirschhorn Syndrome

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    John F. Gamble

    2016-01-01

    Full Text Available We present a case of a 3-month-old female with Wolf-Hirschhorn syndrome (WHS undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. WHS is a rare 4p microdeletion syndrome resulting in multiple congenital abnormalities, including craniofacial deformities. Microcephaly, micrognathia, and glossoptosis are common features in WHS patients and risk factors for a pediatric airway that is potentially difficult to intubate. We discuss anesthesia strategies for airway preparation and management in a WHS patient requiring general anesthesia with endotracheal intubation.

  15. BURNOUT SYNDROME IN PATIENTS WITH WORKPLACE HYPERTENSION

    OpenAIRE

    Yu. P. Zinchenko; E. I. Pervichko; O. D. Ostroumova

    2016-01-01

    Aim. To study the presence, severity and qualitative characteristics of «burnout syndrome» in patients with «workplace hypertension» (WPH), in comparison with patients with essential hypertension and healthy people.Material and methods. Untreated patients with hypertension stage II, degree 1-2 (n=170; age 32-52 years; mean age 46.7Ѓ}4.1 years) were examined. Group 1 included 85 patients with WPH (mean age 44.7Ѓ}4.3 years) and Group 2 included 85 patients without WPH (mean age 47.4Ѓ}4.5 years)...

  16. Coccidioidomycosis in armadillo hunters from the state of Ceará, Brazil

    OpenAIRE

    Brillhante, Raimunda Sâmia Nogueira; Moreira Filho, Renato Evando; Rocha, Marcos Fábio Gadelha; Castelo-Branco, Débora de Souza Collares Maia; Fechine, Maria Auxiliadora Bezerra; Lima, Rita Amanda Chaves de; Picanço, Yuri Vieira Cunha; Cordeiro, Rossana de Aguiar; Camargo, Zoilo Pires de; Queiroz, José Ajax Nogueira; Araujo, Roberto Wagner Bezerra de; Mesquita, Jacó Ricarte Lima de; Sidrim, José Júlio Costa

    2012-01-01

    Coccidioidomycosis is a systemic mycosis with a variable clinical presentation. Misdiagnosis of coccidioidomycosis as bacterial pneumopathy leads to inappropriate prescription of antibiotics and delayed diagnosis. This report describes an outbreak among armadillo hunters in northeastern Brazil in which an initial diagnosis of bacterial pneumonia was later confirmed as coccidioidomycosis caused by Coccidioides posadasii. Thus, this mycosis should be considered as an alternative diagnosis in pa...

  17. [Prevention and management of refeeding syndrome in patients with chronic critical illness].

    Science.gov (United States)

    Chen, Jun; Fan, Chaogang

    2016-07-01

    Nutritional support is an important means to treat the patients with chronic critical illness for commonly associated malnutrition. Refeeding syndrome is a serious complication during the process, mainly manifested as severe electrolyte with hypophosphataemia being the most common. Refeeding syndrome is not uncommon but it is often ignored. In our future clinical work, we need to recognize this chinical situation and use preventative and treatment measures. According to NICE clinical nutrition guideline, we discussed the risk factors, treatment methods and preventive measures of refeeding syndrome in patients with chronic critical illness. We argued that for patients with high risk refeeding syndrome, nutritional support treatment should be initially low calorie and slowly increased to complete requirement. Circulation capacity should be recovered, fluid balance must be closely monitored and supplement of vitamins, microelement, electrolytes should be noted. After the emergence of refeeding syndrome, we should reduce or even stop the calorie intake, give an active treatment for electrolyte disorder, provide vitamin B, and maintain the functions of multiple organs.

  18. Human behavior. Sex equality can explain the unique social structure of hunter-gatherer bands.

    Science.gov (United States)

    Dyble, M; Salali, G D; Chaudhary, N; Page, A; Smith, D; Thompson, J; Vinicius, L; Mace, R; Migliano, A B

    2015-05-15

    The social organization of mobile hunter-gatherers has several derived features, including low within-camp relatedness and fluid meta-groups. Although these features have been proposed to have provided the selective context for the evolution of human hypercooperation and cumulative culture, how such a distinctive social system may have emerged remains unclear. We present an agent-based model suggesting that, even if all individuals in a community seek to live with as many kin as possible, within-camp relatedness is reduced if men and women have equal influence in selecting camp members. Our model closely approximates observed patterns of co-residence among Agta and Mbendjele BaYaka hunter-gatherers. Our results suggest that pair-bonding and increased sex egalitarianism in human evolutionary history may have had a transformative effect on human social organization. Copyright © 2015, American Association for the Advancement of Science.

  19. Metabolic syndrome and its characteristics among obese patients attending an obesity clinic.

    Science.gov (United States)

    Termizy, H M; Mafauzy, M

    2009-04-01

    The increased prevalence of metabolic syndrome worldwide is closely related to the rising obesity epidemic. The objectives of the study were to determine the prevalence and identify the associated and prognostic factors that influence the risk of metabolic syndrome among obese patients attending the Obesity Clinic at Hospital Universiti Sains Malaysia. A study was conducted involving 102 obese persons who attended the Obesity Clinic from January 1 to December 31, 2005. Metabolic syndrome was defined according to the International Diabetes Federation criteria. The overall prevalence of metabolic syndrome among obese patients was 40.2 percent. The prevalence was higher in females (43.7 percent) than in males (32.3 percent). The prevalence of metabolic syndrome was noted to increase with increasing body mass index class, from class 1 to class 2. However, the prevalence was lower in obesity class 3. The prevalence of metabolic comorbidities of raised blood pressure, reduced high density lipoprotein, high triglyceride and raised fasting blood glucose was 42, 40, 36 and 17 percent, respectively. A quarter of obese patients in this study had no other comorbidity. Based on logistic regression multivariable analysis, age was the only significant associated factor that influenced the risk of having metabolic syndrome. The prevalence of metabolic syndrome was high and the highest comorbidity was high blood pressure. Age was the only significant risk factor of having this syndrome.

  20. Relation between Hormonal Disorders and Components of Metabolic Syndrome in Patients with Primary Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Т.Yu. Yuzvenko

    2016-09-01

    Full Text Available During the last decade plenty of the researches dedicated to the problem of hypothyroidism were published, that radically changed views to the value of thyroid pathology on the whole. Neurohumoral changes are considered as a nosotropic factor of hypothyroidism development in persons with metabolic syndrome (MS. Aim of the research is to study the features of hormonal disorders and their correlation with the components of metabolic syndrome in patients with primary hypothyroidism. Materials and methods. The study involved 80 patients with primary hypothyroidism: 61 had metabolic syndrome and 19 did not have metabolic syndrome. Results. Statistically significant increased levels of leptin, insulin, cortisol, C-peptide were revealed in patients with hypothyroidism and metabolic syndrome while the most marked changes were found in patients with multiple metabolic abnormalities. Conclusions. The interrelations between hyperleptinemia and fasting glucose, glycated hemoglobin, insulin levels, thyroid-stimulating hormone, index HOMA were determined indicating the modulating role of chronic hyperglycemia, hormonal disorders and insulin resistance in the expression and realization of the biological action of leptin in patients with hypothyroidism and metabolic syndrome.

  1. Anaesthetic management of a patient with Liddle's syndrome for emergency caesarean hysterectomy.

    LENUS (Irish Health Repository)

    Hayes, N E

    2011-04-01

    We describe the anaesthetic management of a patient with Liddle\\'s syndrome during caesarean section and emergency hysterectomy for placenta accreta associated with significant intrapartum haemorrhage. Liddle\\'s syndrome is a rare autosomal dominant disorder characterised by early onset arterial hypertension and hypokalaemic metabolic alkalosis. Additional issues were the presence of short stature, limb hypertonicity and preeclampsia. Initial management with a low-dose combined spinal-epidural technique was subsequently converted to general anaesthesia due to patient discomfort. The management of Liddle\\'s syndrome in the setting of neuraxial and general anaesthesia in a patient undergoing caesarean section is discussed.

  2. Anaesthetic management of a patient with Liddle's syndrome for emergency caesarean hysterectomy.

    LENUS (Irish Health Repository)

    Hayes, N E

    2012-02-01

    We describe the anaesthetic management of a patient with Liddle\\'s syndrome during caesarean section and emergency hysterectomy for placenta accreta associated with significant intrapartum haemorrhage. Liddle\\'s syndrome is a rare autosomal dominant disorder characterised by early onset arterial hypertension and hypokalaemic metabolic alkalosis. Additional issues were the presence of short stature, limb hypertonicity and preeclampsia. Initial management with a low-dose combined spinal-epidural technique was subsequently converted to general anaesthesia due to patient discomfort. The management of Liddle\\'s syndrome in the setting of neuraxial and general anaesthesia in a patient undergoing caesarean section is discussed.

  3. Current Hypotheses on How Microsatellite Instability Leads to Enhanced Survival of Lynch Syndrome Patients

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    Kristen M. Drescher

    2010-01-01

    Full Text Available High levels of microsatellite instability (MSI-high are a cardinal feature of colorectal tumors from patients with Lynch Syndrome. Other key characteristics of Lynch Syndrome are that these patients experience fewer metastases and have enhanced survival when compared to patients diagnosed with microsatellite stable (MSS colorectal cancer. Many of the characteristics associated with Lynch Syndrome including enhanced survival are also observed in patients with sporadic MSI-high colorectal cancer. In this review we will present the current state of knowledge regarding the mechanisms that are utilized by the host to control colorectal cancer in Lynch Syndrome and why these same mechanisms fail in MSS colorectal cancers.

  4. Current hypotheses on how microsatellite instability leads to enhanced survival of Lynch Syndrome patients.

    Science.gov (United States)

    Drescher, Kristen M; Sharma, Poonam; Lynch, Henry T

    2010-01-01

    High levels of microsatellite instability (MSI-high) are a cardinal feature of colorectal tumors from patients with Lynch Syndrome. Other key characteristics of Lynch Syndrome are that these patients experience fewer metastases and have enhanced survival when compared to patients diagnosed with microsatellite stable (MSS) colorectal cancer. Many of the characteristics associated with Lynch Syndrome including enhanced survival are also observed in patients with sporadic MSI-high colorectal cancer. In this review we will present the current state of knowledge regarding the mechanisms that are utilized by the host to control colorectal cancer in Lynch Syndrome and why these same mechanisms fail in MSS colorectal cancers.

  5. Pretibial Located Stewart-Treves Syndrome: Uncommon Presentation in a Bulgarian Patient!

    Science.gov (United States)

    Tchernev, Georgi; Yungareva, Irina; Mangarov, Hristo; Stavrov, Konstantin; Lozev, Ilia; Temelkova, Ivanka; Chernin, Svetoslav; Pidakev, Ivan; Tronnier, Michael

    2018-04-15

    The Stewart-Treves syndrome with localisation in the region of the lower extremities is not something unusual as clinical pathology, but the clinical diagnostics is rather difficult, and it can be further complicated maximally because of: the similar locoregional findings in patients with other cutaneous malignancies. Presented is a rare form of an epithelioid variant of the Stewart Treves syndrome in a woman, aged 81, localised in the region of the lower leg and significantly advanced only for 2 months. The diagnosis was confirmed histologically and immunohistochemically. Amputation of the affected extremity was planned. Discussed are important etiopathogenetic aspects regarding the approach in patients with lymphedema and possibility for development of the Stewart Treves syndrome. Analyzing the evidence from the literature worldwide, we concluded that perhaps the only reliable (to some extent) therapeutic option in patients with Stewart Treves Syndrome is 1) the early diagnostics and 2) the following inevitable radical excision or amputation with the maximal field of surgical security in the proximal direction.

  6. Cochlear implantation in patient with Dandy-walker syndrome.

    Science.gov (United States)

    de Oliveira, Adriana Kosma Pires; Hamerschmidt, Rogerio; Mocelin, Marcos; Rezende, Rodrigo K

    2012-07-01

     Dandy Walker Syndrome is a congenital abnormality in the central nervous system, characterized by a deficiency in the development of middle cerebelar structures, cystic dilatation of the posterior pit communicating with the fourth ventricle and upward shift of the transverse sinuses, tentorium and dyes. Among the clinical signs are occipital protuberances, a progressive increase of the skull, bowing before the fontanels, papilledema, ataxia, gait disturbances, nystagmus, and intellectual impairment.  To describe a case of female patient, 13 years old with a diagnosis of this syndrome and bilateral hearing loss underwent cochlear implant surgery under local anesthesia and sedation.  CGS, 13 years old female was referred to the Otolaryngological Department of Otolaryngology Institute of Parana with a diagnosis of "Dandy-Walker syndrome" for Otolaryngological evaluation for bilateral hearing loss with no response to the use of hearing aids. Final Comments: The field of cochlear implants is growing rapidly. We believe that the presence of Dandy-Walker syndrome cannot be considered a contraindication to the performance of cochlear implant surgery, and there were no surgical complications due to neurological disorders with very favorable results for the patient who exhibits excellent discrimination. It has less need for lip reading with improvement in speech quality.

  7. Cochlear implantation in patient with Dandy-walker syndrome

    Directory of Open Access Journals (Sweden)

    Oliveira, Adriana Kosma Pires de

    2012-01-01

    Full Text Available Introduction: Dandy Walker Syndrome is a congenital abnormality in the central nervous system, characterized by a deficiency in the development of middle cerebelar structures, cystic dilatation of the posterior pit communicating with the fourth ventricle and upward shift of the transverse sinuses, tentorium and dyes. Among the clinical signs are occipital protuberances, a progressive increase of the skull, bowing before the fontanels, papilledema, ataxia, gait disturbances, nystagmus, and intellectual impairment. Objectives: To describe a case of female patient, 13 years old with a diagnosis of this syndrome and bilateral hearing loss underwent cochlear implant surgery under local anesthesia and sedation. Case Report: CGS, 13 years old female was referred to the Otolaryngological Department of Otolaryngology Institute of Parana with a diagnosis of "Dandy-Walker syndrome" for Otolaryngological evaluation for bilateral hearing loss with no response to the use of hearing aids. Final Comments: The field of cochlear implants is growing rapidly. We believe that the presence of Dandy-Walker syndrome cannot be considered a contraindication to the performance of cochlear implant surgery, and there were no surgical complications due to neurological disorders with very favorable results for the patient who exhibits excellent discrimination. It has less need for lip reading with improvement in speech quality.

  8. Progression of salivary gland dysfunction in patients with Sjogren's syndrome

    NARCIS (Netherlands)

    Pijpe, J.; Kalk, W. W. I.; Bootsma, H.; Spijkervet, F. K. L.; Kallenberg, C. G. M.; Vissink, A.

    Background: Salivary gland dysfunction is one of the key manifestations of Sjogren's syndrome. Objectives: (1) To assess prospectively loss of function of individual salivary glands in patients with primary and secondary Sjogren's syndrome in relation to disease duration and use of immunomodulatory

  9. High prevalence of the metabolic syndrome in HIV-infected patients

    DEFF Research Database (Denmark)

    Worm, Signe Westring; Friis-Møller, Nina; Bruyand, Mathias

    2010-01-01

    This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time....

  10. Prevalence of non alcoholic fatty liver disease in patients with metabolic syndrome

    International Nuclear Information System (INIS)

    Iftikhar, R.; Kamran, S.M.

    2015-01-01

    To determine frequency of Non Alcoholic fatty liver disease in patients with Metabolic Syndrome (MetS). Study Design: Cross sectional study. Place and Duration of Study: Department of medicine, CMH Okara, Jan 2013 to July 2013. Patients and Methods: We included 491 adult males, diagnosed with metabolic syndrome (MetS), presenting in outpatient department for routine review. MetS was diagnosed as per the International Diabetes Federation (IDF) proposed criteria of 2004. Detailed history and examination of each individual was done and data entered in pre designed performa. Brightness and posterior attenuation on ultrasound abdomen were considered indices for fatty liver disease in presence of elevated ALT, negative hepatitis serology and absence of alcohol intake. All the data was analyzed using SPSS version 16. p value of less than 0.05 was considered statistically significant. Results: Out of 491 participants with MetS, 222 (45.2%) had fatty liver disease. Mean BMI in patients with metabolic syndrome was 26.1 (± .89) and mean BMI in fatty liver patients was 27.3 (± 0.67). Out of total 5 components of Mets, patients with fatty liver disease had 3.24 (± 0.25) components, as compared to 2.1 (± 0.34) in whole of study group. Conclusion: A large number of patients with metabolic syndrome have fatty liver disease. Fatty liver disease is more frequent in patients who are overweight and those having multiple risk factors of metabolic syndrome. (author)

  11. Thoracoabdominal aortic aneurysm repair in patients with marfan syndrome.

    Science.gov (United States)

    Mommertz, G; Sigala, F; Langer, S; Koeppel, T A; Mess, W H; Schurink, G W H; Jacobs, M J

    2008-02-01

    We assessed the surgical outcome of descending thoracic aortic aneurysm repair (DTAA) and thoracoabdominal aortic aneurym (TAAA) repair in patients with Marfan syndrome. During a six year period, 206 patients underwent DTAA and TAAA repair. In 22 patients, Marfan syndrome was confirmed. The median age was 40 years with a range between 18 and 57 years. The extend of the aneurysms included 6 DTAA (1 with total arch, 2 with distal hemi-arch), 11 type II TAAA (2 with total arch, 3 with distal hemi-arch), 4 type III and one type IV TAAA. All patients suffered from previous type A (n=6) or type B (n=16) aortic dissection and 15 already underwent aortic procedures like Bentall (n=7) and ascending aortic replacement (n=8). All patients were operated on according to the standard protocol with cerebrospinal fluid drainage, distal aortic and selective organ perfusion and monitoring motor evoked potentials. In patients undergoing simultaneous arch replacement (via left thoracotomy), transcranial Doppler and EEG assessed cerebral physiology during antegrade brain perfusion. In four patients circulatory arrest under moderate hypothermia was required. In-hospital mortality did not occur. Major postoperative complications like paraplegia, renal failure, stroke and myocardial infarction were not encountered. Mean pre-operative creatinine level was 125mmol/L, which peaked to a mean maximal level of 130 and returned to 92mmol/L at discharge. Median intubation time was 1.5 days (range 0.33-30 days). Other complications included bleeding requiring surgical intervention (n=1), arrhythmia (n=2), pneumonia (n=2) and respiratory distress syndrome (n=1). At a median follow-up of 38 months all patients were alive. Using CT surveillance, new or false aneurysms were not detected, except in one patient who developed a visceral patch aneurysm six years after open type II repair. Surgical repair of descending and thoracoabdominal aortic aneurysms provides excellent short- and mid-term results in

  12. [Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome].

    Science.gov (United States)

    Ács, Orsolya Dóra; Péterfia, Bálint; Hollósi, Péter; Haltrich, Irén; Sallai, Ágnes; Luczay, Andrea; Buiting, Karin; Horsthemke, Bernhard; Török, Dóra; Szabó, András; Fekete, György

    2018-01-01

    According to the international literature, DNA methylation analysis of the promoter region of SNRPN locus is the most efficient way to start genetic investigation in patients with suspected Prader-Willi syndrome. Our aim was to develop a simple, reliable first-tier diagnosis to confirm Prader-Willi syndrome, therefore to compare our self-designed simple, cost-efficient high-resolution melting analysis and the most commonly used methylation-specific multiplex ligation-dependent probe amplification to confirm Prader-Willi syndrome. We studied 17 clinically suspected Prader-Willi syndrome children and their DNA samples. With self-designed primers, bisulfite-sensitive polymerase chain reaction, high-resolution melting analysis and, as a control, methylation-specific multiplex ligation-dependent probe amplification were performed. Prader-Willi syndrome was genetically confirmed in 6 out of 17 clinically suspected Prader-Willi syndrome patients. The results of high-resolution melting analysis and methylation-specific multiplex ligation-dependent probe amplification were equivalent in each case. Using our self-designed primers and altered bisulfite-specific PCR conditions, high-resolution melting analysis appears to be a simple, fast, reliable and effective method for primarily proving or excluding clinically suspected Prade-Willi syndrome cases. Orv Hetil. 2018; 159(2): 64-69.

  13. Is refeeding syndrome relevant for critically ill patients?

    Science.gov (United States)

    Koekkoek, Wilhelmina A C; Van Zanten, Arthur R H

    2018-03-01

    To summarize recent relevant studies regarding refeeding syndrome (RFS) in critically ill patients and provide recommendations for clinical practice. Recent knowledge regarding epidemiology of refeeding syndrome among critically ill patients, how to identify ICU patients at risk, and strategies to reduce the potential negative impact on outcome are discussed. RFS is a potentially fatal acute metabolic derangement that ultimately can result in marked morbidity and even mortality. These metabolic derangements in ICU patients differ from otherwise healthy patients with RFS, as there is lack of anabolism. This is because of external stressors inducing a hypercatabolic response among other reasons also reflected by persistent high glucagon despite initiation of feeding. Lack of a proper uniform definition complicates diagnosis and research of RFS. However, refeeding hypophosphatemia is commonly encountered during critical illness. The correlations between risk factors proposed by international guidelines and the occurrence of RFS in ICU patients remains unclear. Therefore, regular phosphate monitoring is recommended. Based on recent trials among critically ill patients, only treatment with supplementation of electrolytes and vitamins seems not sufficient. In addition, caloric restriction for several days and gradual increase of caloric intake over days is recommendable.

  14. HiggsHunters - a citizen science project for ATLAS

    CERN Document Server

    AUTHOR|(INSPIRE)INSPIRE-00053405; The ATLAS collaboration

    2017-01-01

    Since the launch of HiggsHunters.org in November 2014, citizen science volunteers have classified more than a million points of interest in images from the ATLAS experiment at the LHC. Volunteers have been looking for displaced vertices and unusual features in images recorded during LHC Run-1. We discuss the design of the project, its impact on the public, and the results of how the human volunteers performed relative to the computer algorithms in identifying displaced secondary vertices. People were better than existing algorithms at identifying displaced vertices for some masses and lifetimes, and showed good ability to recognize unexpected new features in the data.

  15. Deer hunting and television: are tv shows creating expectations among deer hunters?

    Science.gov (United States)

    Joshua D. Agee; Craig A. Miller

    2009-01-01

    Throughout the past two decades new media outlets emphasizing trophy deer hunting have come to dominate hunting culture. Using data collected through a mail survey of Illinois deer hunters (n = 2,683, 78.5-percent response), we tested two hypotheses to determine factors that contribute to preference for hunting trophy deer. In particular, we examined the relationship...

  16. Cadmium, lead, and chromium in large game: a local-scale exposure assessment for hunters consuming meat and liver of wild boar.

    Science.gov (United States)

    Danieli, P P; Serrani, F; Primi, R; Ponzetta, M P; Ronchi, B; Amici, A

    2012-11-01

    Heavy metals are ubiquitous in soil, water, and air. Their entrance into the food chain is an important environmental issue that entails risks to humans. Several reports indicate that game meat can be an important source of heavy metals, particularly because of the increasing consumption of game meat, mainly by hunters. We performed an exposure assessment of hunters and members of their households, both adults and children, who consumed wild boar (WB) meat and offal. We estimated the amount of cadmium, lead, and chromium in the tissues of WB hunted in six areas within Viterbo Province (Italy) and gathered data on WB meat and offal consumption by conducting specific diet surveys in the same areas. The exposure to cadmium, lead, and chromium was simulated with specifically developed Monte Carlo simulation models. Cadmium and lead levels in WB liver and meat harvested in Viterbo Province (Italy) were similar to or lower than the values reported in other studies. However, some samples contained these metals at levels greater then the EU limits set for domestic animals. The chromium content of meat or liver cannot be evaluated against any regulatory limit, but our results suggest that the amounts of this metal found in WB products may reflect a moderate environmental load. Our survey of the hunter population confirmed that their consumption of WB meat and liver was greater than that of the general Italian population. This level of consumption was comparable with other European studies. Consumption of WB products contributes significantly to cadmium and lead exposure of both adults and children. More specifically, consumption of the WB liver contributed significantly to total cadmium and lead exposure of members of the households of WB hunters. As a general rule, liver consumption should be kept to a minimum, especially for children living in these hunter households. The exposure to chromium estimated for this population of hunters may be considered to be safe. However

  17. Diagnostic value of hepatobiliary sequence scintigraphy in patients with postcholecystectomy syndrome

    International Nuclear Information System (INIS)

    Frey, H.; Jorke, D.; Gottschild, D.; Langbein, T.; Zinner, G.; Kob, D.

    1992-01-01

    The autors report about the possibility of registration from functionally disturbances of gall fluid with the help of hepatobiliary sequence-scintigraphy in patients with postcholecystectomy-syndrome. The diagnostic importance of this methode and the meaning of other usually procedures is discussed. A selection of patients succeed in objective manner with hepatobiliary sequence-scintigraphy together with clinically dates of laboratory. In patients with postcholecystectomy-syndrome the procedure can show functionally disturbances in the area of extrahepatic gall ways. (orig.) [de

  18. Metabolic syndrome is associated with poor treatment response to antiviral therapy in chronic hepatitis C genotype 3 patients.

    Science.gov (United States)

    Aziz, Hafsa; Gill, Uzma; Raza, Abida; Gill, Muzaffar L

    2014-05-01

    Hepatitis C viral (HCV) infection is caused by an RNA virus. HCV infection is considered to induce systemic disease that causes steatosis, alters lipid metabolism, and results in metabolic syndrome. This study aimed to investigate the therapeutic outcome in HCV genotype 3 patients with metabolic syndrome. A total of 621 HCV-positive patients who visited the hospital for treatment were screened. Among these, 441 patients were enrolled for antiviral therapy. These enrolled patients were assessed for metabolic syndrome according to the International Diabetes Federation criteria. Group A included patients with metabolic syndrome and group B included patients without metabolic syndrome. All patients received peginterferon-α2a (180 μg/week) and ribavirin (10 mg/kg/day) for 6 months. The prevalence of metabolic syndrome in chronic HCV patients was 37.9%. We observed that metabolic syndrome was more common among female compared with male participants (43.9 vs. 28.8%, P=0.005). It was found that sustained virologic response (SVR) rates were significantly higher in the patients in group B (without metabolic syndrome) compared with the patients in group A who had metabolic syndrome (72.2 vs. 43.7%, Pmetabolic syndrome and a correlation of metabolic syndrome with nonresponse to antiviral therapy was observed. An interesting correlation among metabolic syndrome, age, and SVR was found: with age, SVR decreases, while metabolic syndrome increases. Metabolic syndrome has an influence on therapeutic outcomes in terms of SVR. Moreover, this information can identify patients who might have a low chance of attaining an SVR and a timely decision may protect the patients from the adverse effects of therapy.

  19. Oral, physical, and behavioral aspects of patient with chromosome 47, XYY syndrome.

    Science.gov (United States)

    Scheidt, Lisa; Sanabe, Mariane Emi; Diniz, Michele Baffi

    2015-01-01

    Chromosome 47, XYY syndrome is usually diagnosed late. Some of the clinical characteristics of XYY syndrome may be perceptible in dental care. The slow development of cognitive and motor activities and tall stature is common in XYY patients. The aim of this article was to relate the oral, physical, and behavioral aspects of a 6-year-old patient with the chromosome 47, XYY syndrome, diagnosed by means of karyotyping. The patient presented motor difficulty, which led to a fall and traumatism in the anterior region. In the radiography, agenesia of the permanent maxillary lateral incisors, presence of taurodontism in the primary molars, and macrodontia of the maxillary central incisors and permanent molars could be observed. Once the diagnosis was made, it was possible to understand his difficulty at school, and make available appropriate monitoring by a suitable multidisciplinary team to stimulate, control, and minimize the day-to-day difficulties found by patients with this syndrome.

  20. Oral, physical, and behavioral aspects of patient with chromosome 47, XYY syndrome

    Directory of Open Access Journals (Sweden)

    Lisa Scheidt

    2015-01-01

    Full Text Available Chromosome 47, XYY syndrome is usually diagnosed late. Some of the clinical characteristics of XYY syndrome may be perceptible in dental care. The slow development of cognitive and motor activities and tall stature is common in XYY patients. The aim of this article was to relate the oral, physical, and behavioral aspects of a 6-year-old patient with the chromosome 47, XYY syndrome, diagnosed by means of karyotyping. The patient presented motor difficulty, which led to a fall and traumatism in the anterior region. In the radiography, agenesia of the permanent maxillary lateral incisors, presence of taurodontism in the primary molars, and macrodontia of the maxillary central incisors and permanent molars could be observed. Once the diagnosis was made, it was possible to understand his difficulty at school, and make available appropriate monitoring by a suitable multidisciplinary team to stimulate, control, and minimize the day-to-day difficulties found by patients with this syndrome.

  1. Features of Turner syndrome among a group of Cameroonian patients.

    Science.gov (United States)

    Wonkam, Ambroise; Veigne, Sandra W; Abass, Ali; Ngo Um, Suzanne; Noubiap, Jean Jacques N; Mbanya, Jean-Claude; Sobngwi, Eugene

    2015-06-01

    To describe the features of Turner syndrome among a group of Cameroonian patients. A descriptive cross-sectional study was conducted among patients with amenorrhea and/or short stature who attended the genetic unit of Yaoundé Gynecology, Obstetrics and Pediatric Hospital (Yaoundé, Cameroon) for a specialist consultation between July 1, 2007, and December 31, 2008. Sociodemographic, clinical, and cytogenetic data were collected. Turner syndrome was confirmed among 11 of the 14 participants (seven had monosomy of the X chromosome; four had mosaicism involving a structural abnormality of the second X chromosome). The mean age at diagnosis was 18.4±2.8years. The reasons for consultation were delayed puberty (n=10) and short stature (n=1). Nine patients had a short neck, nine had a forearm carrying-angle deformity, eight had a low hairline, and two had a webbed neck. Abdominal ultrasonography identified a horseshoe kidney in two patients and a rudimentary uterus in nine patients. None of the patients displayed cardiac abnormalities. Hypergonadotropic hypogonadism was reported among five patients. Eight patients did not receive hormonal treatment owing to advanced bone age or economic reasons. Late diagnosis and variable phenotypic expression were key features of Cameroonian patients with Turner syndrome. Copyright © 2015 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

  2. In silico cardiac risk assessment in patients with long QT syndrome

    DEFF Research Database (Denmark)

    Hoefen, Ryan; Reumann, Matthias; Goldenberg, Ilan

    2012-01-01

    The study was designed to assess the ability of computer-simulated electrocardiography parameters to predict clinical outcomes and to risk-stratify patients with long QT syndrome type 1 (LQT1).......The study was designed to assess the ability of computer-simulated electrocardiography parameters to predict clinical outcomes and to risk-stratify patients with long QT syndrome type 1 (LQT1)....

  3. Aneurysmal sub-arachnoid haemorrhage in patients with Noonan syndrome: a report of two cases and review of neurovascular presentations in this syndrome

    International Nuclear Information System (INIS)

    Dineen, R.A.; Lenthall, R.K.

    2004-01-01

    To date, intracranial aneurysms have been reported in two patients with Noonan syndrome. We report two unrelated patients with Noonan syndrome who presented with sub-arachnoid haemorrhage secondary to intracranial aneurysms. These cases are discussed and other cerebrovascular abnormalities that have been described in association with Noonan syndrome are reviewed. Ultrastructural and genetic factors contributing to these associations are considered. (orig.)

  4. Aneurysmal sub-arachnoid haemorrhage in patients with Noonan syndrome: a report of two cases and review of neurovascular presentations in this syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Dineen, R.A.; Lenthall, R.K. [Department of Radiology, University Hospital, Queen' s Medical Centre, NG7 2UH, Nottingham (United Kingdom)

    2004-04-01

    To date, intracranial aneurysms have been reported in two patients with Noonan syndrome. We report two unrelated patients with Noonan syndrome who presented with sub-arachnoid haemorrhage secondary to intracranial aneurysms. These cases are discussed and other cerebrovascular abnormalities that have been described in association with Noonan syndrome are reviewed. Ultrastructural and genetic factors contributing to these associations are considered. (orig.)

  5. Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus.

    Science.gov (United States)

    Tüysüz, Beyhan; Collin, Anna; Arapoğlu, Müjde; Suyugül, Nezir

    2009-10-01

    Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease (HSCR). Mutations in the endothelin-B receptor (EDNRB) gene on 13q22 have been found to cause this syndrome. Mutations in both alleles cause the full phenotype, while heterozygous mutations cause isolated HSCR or HSCR with minor pigmentary anomalies and/or sensorineural deafness. We investigated the status of the EDNRB gene, by FISH analysis, in three patients with de novo proximal 13q deletions detected at cytogenetic analysis and examined the clinical variability of WS4 among these patients. Chromosome 13q was screened with locus specific FISH probes and breakpoints were determined at 13q22.1q31.3 in Patients 1 and 3, and at 13q21.1q31.3 in Patient 2. An EDNRB specific FISH probe was deleted in all three patients. All patients had common facial features seen in proximal 13q deletion syndrome and mild mental retardation. However, findings related to WS4 were variable; Patient 1 had hypopigmentation of the irides and HSCR, Patient 2 had prominent bicolored irides and mild bilateral hearing loss, and Patient 3 had only mild unilateral hearing loss. These data contribute new insights into the pathogenesis of WS4.

  6. [Pseudomeigs syndrome in a patient with Krukenberg's tumor].

    Science.gov (United States)

    Bayod, M J Herráiz; Carlón, M Elorz; Idoate, M A

    2007-01-01

    We report the case of a fiftyone-year-old woman with a past medical history of Linfoma no Hodking and a gastric adenocarcinoma with signet ring cells. She came to our institution with a twenty month history of dysnea secondary to pleural effussion, bilateral lower extremity edema and probably had ascitis. On CT and US two bilateral pelvic masses were found and biopsied. The anatomopathological analysis showed bilateral ovarian implants from signet ring cell adenocarcinoma (Krukenberg tumor). This patient developed a PseudoMeigs syndrome consisting on malignant ovarian tumor asociated with ascitis and pleural effusion without malignant cells. Oncological patients who present with ascitis and benign pleural effusion, the diagnosis of PseudoMeigs syndrome should be considered.

  7. Total Endovascular Aortic Repair in a Patient with Marfan Syndrome.

    Science.gov (United States)

    Amako, Mau; Spear, Rafaëlle; Clough, Rachel E; Hertault, Adrien; Azzaoui, Richard; Martin-Gonzalez, Teresa; Sobocinski, Jonathan; Haulon, Stéphan

    2017-02-01

    The aim of this study is to describe a total endovascular aortic repair with branched and fenestrated endografts in a young patient with Marfan syndrome and a chronic aortic dissection. Open surgery is the gold standard to treat aortic dissections in patients with aortic disease and Marfan syndrome. In 2000, a 38-year-old man with Marfan syndrome underwent open ascending aorta repair for an acute type A aortic dissection. One year later, a redo sternotomy was performed for aortic valve replacement. In 2013, the patient presented with endocarditis and pulmonary infection, which necessitated tracheostomy and temporary dialysis. In 2014, the first stage of the endovascular repair was performed using an inner branched endograft to exclude a 77-mm distal arch and descending thoracic aortic aneurysm. In 2015, a 63-mm thoracoabdominal aortic aneurysm was excluded by implantation of a 4-fenestrated endograft. Follow-up after both endovascular repairs was uneventful. Total aortic endovascular repair was successfully performed to treat a patient with arch and thoraco-abdominal aortic aneurysm associated with chronic aortic dissection and Marfan syndrome. The postoperative images confirmed patency of the endograft and its branches, and complete exclusion of the aortic false lumen. Endovascular repair is a treatment option in patients with connective tissue disease who are not candidates for open surgery. Long-term follow-up is required to confirm these favorable early outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Digital subtraction angiography in patients with Marfan's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Rauber, K.; Riemann, H.

    1987-06-01

    Marfan's syndrome is a rare inborn error of metabolism. Marfan patients are prone to aneurysms of the ascending aorta and run a high risk of rupture of the aortic arch. The diameter of the aneurysm is the most important predictor of the risk and therefore the leading point for surgical interventions. IV and IA-DSA according to our experiences are simple and effective methods in pre- and postoperative evaluation of patients with the syndrome.

  9. Gender inequality in acute coronary syndrome patients at Omdurman Teaching Hospital, Sudan

    Directory of Open Access Journals (Sweden)

    Hyder O Mirghani

    2016-01-01

    Full Text Available Background: Gender differences among patients with the acute coronary syndrome is still being debated, no research has been done on gender inequality among coronary syndrome patients in Sudan. Objectives: To study gender differences in presentation, management, and outcomes of acute coronary syndrome in Sudan. Subjects and Methods: This cross-sectional descriptive longitudinal study was conducted in Omdurman Teaching Hospital between July 2014 and August 2015. Patients were invited to sign a written informed consent form, were interviewed and examined by a physician, and then followed during their hospital stay. Information collected includes coronary risk factors, vital signs, echocardiography findings, arrhythmias, heart failure, cardiogenic shock, and death. The Ethical Committee of Omdurman Teaching Hospital approved the research. Results: A total of 197 consecutive acute coronary syndrome patients were included, 43.1% were females. A significant statistical difference was evident between males and females regarding the type of acute coronary syndrome, its presentation, and time of presentation to the hospital, smoking, and receipt of thrombolysis (P 0.05. Conclusion: Women were less likely to receive thrombolytic therapy, present with chest pain, and diagnosed with ST-segment elevation myocardial infarction. No gender differences were found in acute coronary syndrome risk factors apart from smoking, which was more common in males, and there were no differences between males and females as regards in-hospital complications.

  10. Blood, guts and knife cuts: reducing the risk of swine brucellosis in feral pig hunters in north-west New South Wales, Australia.

    Science.gov (United States)

    Massey, P D; Polkinghorne, B G; Durrheim, D N; Lower, T; Speare, R

    2011-01-01

    Humans who have close contact with livestock, wild or feral animals can risk acquiring zoonotic infections such as brucellosis, Q fever, and leptospirosis. Human infection with Brucella suis (swine brucellosis) usually follows occupational or recreational exposure to infected animals. Worldwide, many cases of human infection follow contact with infected feral pigs. In Australia there is a growing market for the export of 'wild boar' and a considerable number of people are involved in feral pig hunting. However, feral pig hunters are often hard to reach with health strategies. According to Australian authorities the most important means of preventing disease in humans includes covering cuts; wearing gloves; washing hands; and avoiding blood when coming into contact with feral pigs. There has not been an evaluation of the acceptability of these recommended risk-reduction strategies in the settings where feral pig hunting and evisceration occurs. Semi-structured interviews and small focus groups were conducted with feral pig hunters in north-west New South Wales (NSW), Australia, to explore their hunting experiences and views on the brucellosis prevention strategies. Interview and focus group notes were thematically analysed. There was a range of experiences of feral pig hunting, from a very professional approach to a purely recreational approach. The main domains that emerged from participants' experiences during their most recent feral pig hunting activity and their reflections on current swine brucellosis risk reduction strategies were: 'you've gotta be tough to be a feral pig hunter'; 'most of the suggested strategies won't work as they are'; 'reducing risk in the scrub'; and 'how to let pig hunters know'. The recreational nature and prevailing macho perspective of participants demand a pragmatic approach to risk reduction if it is going to prove acceptable to feral pig hunters. The 'you've gotta be tough to be a feral pig hunter' context of the activity and the

  11. Dopamine agonist withdrawal syndrome: implications for patient care.

    Science.gov (United States)

    Nirenberg, Melissa J

    2013-08-01

    Dopamine agonists are effective treatments for a variety of indications, including Parkinson's disease and restless legs syndrome, but may have serious side effects, such as orthostatic hypotension, hallucinations, and impulse control disorders (including pathological gambling, compulsive eating, compulsive shopping/buying, and hypersexuality). The most effective way to alleviate these side effects is to taper or discontinue dopamine agonist therapy. A subset of patients who taper a dopamine agonist, however, develop dopamine agonist withdrawal syndrome (DAWS), which has been defined as a severe, stereotyped cluster of physical and psychological symptoms that correlate with dopamine agonist withdrawal in a dose-dependent manner, cause clinically significant distress or social/occupational dysfunction, are refractory to levodopa and other dopaminergic medications, and cannot be accounted for by other clinical factors. The symptoms of DAWS include anxiety, panic attacks, dysphoria, depression, agitation, irritability, suicidal ideation, fatigue, orthostatic hypotension, nausea, vomiting, diaphoresis, generalized pain, and drug cravings. The severity and prognosis of DAWS is highly variable. While some patients have transient symptoms and make a full recovery, others have a protracted withdrawal syndrome lasting for months to years, and therefore may be unwilling or unable to discontinue DA therapy. Impulse control disorders appear to be a major risk factor for DAWS, and are present in virtually all affected patients. Thus, patients who are unable to discontinue dopamine agonist therapy may experience chronic impulse control disorders. At the current time, there are no known effective treatments for DAWS. For this reason, providers are urged to use dopamine agonists judiciously, warn patients about the risks of DAWS prior to the initiation of dopamine agonist therapy, and follow patients closely for withdrawal symptoms during dopamine agonist taper.

  12. Gilles de la Tourette's syndrome in a patient with 47(XXX syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Chiappedi Matteo

    2011-11-01

    Full Text Available Abstract Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  13. Intraoperative navigation-guided resection of anomalous transverse processes in patients with Bertolotti's syndrome

    OpenAIRE

    Babu, Harish; Lagman, Carlito; Kim, Terrence T.; Grode, Marshall; Johnson, J. Patrick; Drazin, Doniel

    2017-01-01

    Background: Bertolotti's syndrome is characterized by enlargement of the transverse process at the most caudal lumbar vertebra with a pseudoarticulation between the transverse process and sacral ala. Here, we describe the use of intraoperative three-dimensional image-guided navigation in the resection of anomalous transverse processes in two patients with Bertolotti's syndrome. Case Descriptions: Two patients diagnosed with Bertolotti's syndrome who had undergone the above-mentioned procedure...

  14. [Analgesic efficacy of magnetoledotherapy in patients with low back pain syndromes].

    Science.gov (United States)

    Krukowska, Jolanta; Woldańska-Okońska, Marta; Jankowska, Katarzyna; Kwiecień-Czerwieniec, Ilona; Czernicki, Jan

    2010-01-01

    Low back pain syndromes most often occur due to overloading of the musculoskeletal system. The cause is a frequent, improper lifting of heavy objects, most commonly by those working physically, with repetitive movements of bending and straightening of the trunk (turning and bending with load). This problem affects not only adults but also children and adolescents. There is a growing interest in new forms of analgesic therapy nowadays, especially in those that exhibit synergistic therapeutic effects. The aim of this work is to evaluate the analgesic efficacy of magnetoledotherapy in patients with lumbar--sacrum spinal pain syndromes caused by joints degenerative changes. The examination was carried out in 66 patients of both sexes aged 30 to 76 (average 54.7 +/- 13.8) with low back pain syndrome caused by spinal degenerative changes. The patients were divided into three groups according to the applied analgesic therapy (magnetoledotherapy, magnetostimulation, TENS currents). Level of pain has been evaluated four times in all patients--before the start of therapy and after 5, 10 and 15 applications with the use of the modified Laitinen Questionnaire and Visual-Analoque Scale (VAS). Post therapy levels of pain in the studied patients decreased significantly. According to Laitinen questionnaire, the greatest improvement was observed in the group treated with magnetoledotherapy and TENS currents and the smallest improvement was observed in the group treated with magnetostimulation. 1. Magnetoledotherapy shows significant analgesic efficacy in patients with low back pain syndrome and shows no side effects. 2. Concurrent application of both the infrared radiation generated by LED's and magnetostimulation synergistically reinforces analgesic effect in patients with low back pain syndrome, especially in level of pain and frequency of its occurrence, which results in the increase of movement activity and decrease in administration of analgesics.

  15. Anesthetic management of a patient with Bartter’s syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Harun Aydoğan

    2012-09-01

    Full Text Available Bartter’s syndrome is a rare disorder characterized bysevere hypochloremic metabolic alkalosis, hypokalemia,hyponatremia, hyperaldosteronism, elevation in plasmarenin activity and insensitivity to angiotensin II. Electrolyteimbalances such as hypomagnesemia, hyponatremiamight make anesthetic management difficult in Barttersyndrome. A 4 years old patient underwent surgery foringuinal hernia with caudal anesthesia using bupivacaine0.25%. In this case report, it was aimed to discuss the anestheticmanagement of a patient with Bartter syndrome.Key words: Regional anesthesia, Bartter syndrome, inguinalhernia surgery, pediatric anesthesia

  16. [Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].

    Science.gov (United States)

    Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He

    2017-02-10

    To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

  17. Serum albumin-adjusted glycated albumin is an adequate indicator of glycemic control in patients with Cushing's syndrome.

    Science.gov (United States)

    Kitamura, Tetsuhiro; Otsuki, Michio; Tamada, Daisuke; Tabuchi, Yukiko; Mukai, Kosuke; Morita, Shinya; Kasayama, Soji; Bando, Yukihiro; Shimomura, Iichiro; Koga, Masafumi

    2014-12-01

    We recently reported that glycated albumin (GA) in patients with Cushing's syndrome is low. In the present study, we examined whether serum albumin (SA)-adjusted GA (SAaGA) is an adequate indicator of glycemic control in patients with Cushing's syndrome. We studied 26 patients with Cushing's syndrome (13 patients without diabetes and 13 patients with diabetes). Twenty six non-diabetic subjects and 26 patients with type 2 diabetes mellitus matched for age, sex and BMI were used as the controls. SAaGA was calculated using the regression formula between SA and GA in non-diabetic patients with Cushing's syndrome and non-diabetic subjects. SA showed a significant correlation with GA in non-diabetic patients with Cushing's syndrome and non-diabetic subjects. GA, but not SAaGA, in non-diabetic patients with Cushing's syndrome was significantly lower than that in the non-diabetic controls. Furthermore, the GA/HbA1c ratio, but not the SAaGA/HbA1c ratio, in diabetic patients with Cushing's syndrome was significantly lower than that in the diabetic controls. The measured GA in the patients with Cushing's syndrome was significantly lower than the estimated GA, but there was no difference between SAaGA and the estimated GA. The present findings suggest that SAaGA is an adequate indicator of the glycemic control in patients with Cushing's syndrome. Copyright © 2014 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

  18. [Features of the periodontal pathology at patients with metabolic syndrome].

    Science.gov (United States)

    Ermolaeva, L A; Shishkin, A N; Sheveleva, N A; Penkovoi, E A; Sheveleva, M A; Sokolovich, N A; Khabarova, O V; Mihailova, E S

    2016-01-01

    The purpose of this article is to familiarize readers on the relationship between metabolic syndrome and periodontitis, as well as common pathogenetic processes underlying these diseases. The data of modern researches, devoted to the correlation of lesions of periodontal and systemic diseases associated with metabolic syndrome. In the article analyzed also the data of the original study of the interaction of periodontitis and metabolic syndrome, which also used special methods of examination like Doppler ultrasound microcirculatory vasculature of the periodontal tissues and ultrasound densitometry. The possible methods of diagnostics of a condition of periodontal tissues in patients with metabolic syndrome are considered. Conclusions about the relationship of each component of metabolic syndrome with periodontitis are made.

  19. Genotype-phenotype correlation in patients suspected of having Sotos syndrome

    NARCIS (Netherlands)

    de Boer, Lonneke; Kant, Sarina G.; Karperien, Marcel; van Beers, Lotte; Tjon, Jennifer; Vink, Geraldine R.; van Tol, Dewy; Dauwerse, Hans; le Cessie, Saskia; Beemer, Frits A.; van der Burgt, Ineke; Hamel, Ben C. J.; Hennekam, Raoul C.; Kuhnle, Ursula; Mathijssen, Inge B.; Veenstra-Knol, Hermine E.; Stumpel, Connie T. Schrander; Breuning, Martijn H.; Wit, Jan M.

    2004-01-01

    Background: Deletions and mutations in the NSD1 gene are the major cause of Sotos syndrome. We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and determine the best discriminating parameters for the presence of a NSD1 gene alteration. Methods:

  20. Genotype-phenotype correlation in patients suspected of having sotos syndrome.

    NARCIS (Netherlands)

    Boer, L. de; Kant, S.; Karperien, M.; Beers, L. van; Tjon, J.; Vink, G.R.; Tol, D. van; Dauwerse, H.G.; Cessie, S. le; Beemer, F.A.; Burgt, C.J.A.M. van der; Hamel, B.C.J.; Hennekam, R.C.M.; Kuhnle, U.; Mathijssen, I.B.; Veenstra-Knol, H.E.; Stumpel, C.T.; Breuning, M.H.; Wit, J.M.

    2004-01-01

    BACKGROUND: Deletions and mutations in the NSD1 gene are the major cause of Sotos syndrome. We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and determine the best discriminating parameters for the presence of a NSD1 gene alteration. METHODS:

  1. Correlation between Oxidative Stress and Thyroid Function in Patients with Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Sangita U. Sawant

    2011-01-01

    Full Text Available Background. The present study is to look for a correlation between oxidative stress and thyroid function in patients with the nephrotic syndrome in the remission phase as well as in a persistent proteinuric state. Introduction. Nephrotic syndrome is a form of chronic kidney disease due to which blood loses protein through the urine. We wanted to know if there was an increased loss of thyroid hormones in urine affecting thyroid function. Methods. 60 patients with nephrotic syndrome and 20 healthy non-proteinuric individuals as control subjects were enrolled in the study. We measured their serum tri-iodothyronine, thyroxine and thyroid-stimulating hormone. Estimation of lipid peroxidation (LPx catalase, superoxide dismutase (SOD, and Glutathione peroxidase (GPx were carried out by standard methods. Results. TSH was elevated in the nephrotic patients compared to controls, while TT4 and TT3 were significantly lower in the patients than in controls. Lipid Peroxidation and GPx were significantly higher in the nephrotic syndrome patients than in the controls, while SOD and catalase were significantly lower than in patients than in the control subjects. Conclusion. Nephrotic patients can lose significant amounts of thyroid hormones along with protein in urine, which can affect thyroid status, but this is reversible on remission.

  2. Oral Rehabilitation with Implant-Retained Overdenture in a Patient with Down Syndrome.

    Science.gov (United States)

    Altintas, Nuray Yilmaz; Kilic, Serdar; Altintas, Subutay Han

    2017-01-24

    Down syndrome, known as trisomy 21, is the most common chromosomal disorder. The disorder affects mental and systemic development as well as oral structure, including dental anomalies, high susceptibility of periodontal disease, and poor quality of alveolar bone. This report presents a case of dental rehabilitation by means of dental implants of a patient with Down syndrome. Two titanium dental implants were placed in the maxilla, and three titanium dental implants were installed in the mandible. One implant was lost during the osseointegration period. The prosthetic rehabilitation was performed with implant-retained maxillary and mandibular overdentures with the Locator attachment system. After a 2-year follow-up period, the patient was doing well, and all implants were clinically stable with no signs of bone loss or inflammation. The present study emphasizes that implant-retained overdentures with Locator attachment system could be a therapeutic option even for patients with Down syndrome. This therapy prevents crestal bone loss around the implants, improves functional and esthetic outcomes, and provides optimum oral hygiene for patients with mild mental impairment. Careful patient selection and education of patients and caregivers are essential considerations for a successful and safe treatment with dental implants in Down syndrome patients. © 2017 by the American College of Prosthodontists.

  3. Period Determination of Binary Asteroid Targets Observed at Hunters Hill Observatory: May-September 2009

    Science.gov (United States)

    Higgins, David; Oey, Julian; Pravec, Petr

    2011-01-01

    Lightcurves for seven confirmed or possible binary asteroids were obtained at the Hunters Hill Observatory (HHO) and Leura Observatory from 2009 May through 2010 September: 1453 Fennia, 2501 Lohja, 3076 Garbor, 4029 Bridges, 5325 Silver, 6244 Okamoto, and (6265) 1985 TW3.

  4. Cardiac computed tomography in patients with acute coronary syndrome

    International Nuclear Information System (INIS)

    Schlett, C.L.; Bamberg, F.

    2014-01-01

    Currently, cardiac computed tomography (CT) is increasingly being implemented into clinical algorithms, primarily due to substantial technical advances over the last decade. Its use in the setting of suspected acute coronary syndrome is of particular relevance, given the high degree of accumulating scientific evidence of improving patient outcomes. Performing cardiac CT requires specific knowledge on the available scan acquisitions and patient preparation. Also, expertise is required in order to interpret the coronary and extra-coronary findings adequately. The present article provides an overview of the different aspects on the use of cardiac CT in the setting of acute coronary syndrome.

  5. A Metabonomics Profiling Study on Phlegm Syndrome and Blood-Stasis Syndrome in Coronary Heart Disease Patients Using Liquid Chromatography/Quadrupole Time-of-Flight Mass Spectrometry

    Directory of Open Access Journals (Sweden)

    Linlin Zhao

    2014-01-01

    Full Text Available A metabonomics approach based on liquid chromatography/quadrupole time-of-flight mass spectrometry (LC-Q-TOF/MS was utilized to obtain potential biomarkers of coronary heart disease (CHD patients and investigate the ZHENG types differentiation in CHD patients. The plasma samples of 20 CHD patients with phlegm syndrome, 20 CHD patients with blood-stasis syndrome, and 16 healthy volunteers were collected in the study. 26 potential biomarkers were identified in the plasma of CHD patients and 19 differential metabolites contributed to the discrimination of phlegm syndrome and blood-stasis syndrome in CHD patients (VIP>1.5; P<0.05 which mainly involved purine metabolism, pyrimidine metabolism, amino acid metabolism, steroid biosynthesis, and arachidonic acid metabolism. This study demonstrated that metabonomics approach based on LC-MS was useful for studying pathologic changes of CHD patients and interpreting the differentiation of ZHENG types (phlegm and blood-stasis syndrome in traditional Chinese medicine (TCM.

  6. Anesthesia in a pediatric patient with ROHADD syndrome.

    Science.gov (United States)

    Esparza Isasa, E; Palomero Rodríguez, M A; Acebedo Bambaren, I; Medrano Viñas, C; Gil Mayo, D; Domínguez Pérez, F; Pestaña Lagunas, D

    2018-05-01

    Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is a rare entity that is characterised by its onset in healthy children at 2-4 years of age. It is a complex syndrome that includes, among other symptoms, rapid weight gain with hyperphagia, hypothalamic dysfunction, central hypoventilation, and autonomic dysregulation. The case is presented of a 10-year-old boy with a diagnosis of ROHHAD syndrome undergoing insertion of a port-a-cath under general anaesthesia, who developed complications during the anaesthetic procedure related to his illness. The peri-operative management of these patients represents a challenge for the anaesthetist, given the involvement of multiple systems and the frequent respiratory comorbidities associated with them. A summary is presented of some of the implications and anaesthetic considerations that must be taken into account in the management of these patients. Copyright © 2018 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  7. Canagliflozin improves risk factors of metabolic syndrome in patients with type 2 diabetes mellitus and metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Davies MJ

    2017-01-01

    Full Text Available Michael J Davies,1 Katherine W Merton,1 Ujjwala Vijapurkar,2 Dainius A Balis,2 Mehul Desai2 1Janssen Scientific Affairs, LLC, Titusville, NJ, USA; 2Janssen Research & Development, LLC, Raritan, NJ, USA Objective: Metabolic syndrome refers to a collection of risk factors associated with the development of cardiovascular disease and type 2 diabetes mellitus (T2DM. Canagliflozin, a sodium glucose co-transporter 2 inhibitor, improves glycemic control and reduces body weight and blood pressure (BP in a broad range of patients with T2DM. This post hoc analysis assessed the effects of canagliflozin on the components of metabolic syndrome in patients with T2DM and metabolic syndrome.Methods: This analysis was based on data from 2 head-to-head studies of canagliflozin in patients with T2DM on background metformin versus glimepiride (study 1 and background metformin plus sulfonylurea versus sitagliptin 100 mg (study 2. Changes from baseline in glycemic efficacy, anthropometric measures, BP, and lipids were evaluated with canagliflozin versus glimepiride and sitagliptin at week 52 in patients who met ≥2 of the criteria for metabolic syndrome (in addition to T2DM: triglycerides ≥1.7 mmol/L; high-density lipoprotein cholesterol (HDL-C <1.0 mmol/L (men or <1.3 mmol/L (women; waist circumference ≥102 cm (non-Asian men, ≥88 cm (non-Asian women, >90 cm (Asian men, or >80 cm (Asian women; diagnosis of hypertension or meeting BP-related criteria (systolic BP ≥130 mmHg or diastolic BP ≥85 mmHg. Safety was assessed based on adverse event reports.Results: In study 1, canagliflozin 100 and 300 mg provided similar and greater HbA1c reductions versus glimepiride, respectively. In study 2, canagliflozin 300 mg provided greater HbA1c lowering versus sitagliptin 100 mg. Canagliflozin also reduced fasting plasma glucose, body weight, body mass index, waist circumference, BP, and triglycerides, and increased HDL-C and low-density lipoprotein cholesterol versus

  8. X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report

    OpenAIRE

    Telepova, Alena S.; Romanenko, Svetlana A.; Lemskaya, Natalya A.; Maksimova, Yulia V.; Shorina, Asia R.; Yudkin, Dmitry V.

    2017-01-01

    Background Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Case presentation Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the ce...

  9. Rivaroxaban vs Warfarin and Risk of Post-Thrombotic Syndrome among Patients with Venous Thromboembolism

    DEFF Research Database (Denmark)

    Søgaard, Mette; Nielsen, Peter Brønnum; Skjøth, Flemming

    2018-01-01

    BACKGROUND: The effectiveness of rivaroxaban to reduce post-thrombotic syndrome in patients with venous thromboembolism is largely unknown. We compared rates of post-thrombotic syndrome in patients given rivaroxaban versus warfarin in a cohort of routine clinical care patients with incident venous...... thromboembolism. METHODS: We linked Danish nationwide registries to identify all patients with incident venous thromboembolism who were new users of rivaroxaban or warfarin and compared rates of post-thrombotic syndrome using an inverse probability of treatment weighting approach to account for baseline...... confounding. RESULTS: We identified 19,939 oral anticoagulation naive patients with incident venous thromboembolism treated with warfarin or rivaroxaban (mean age 64 years, 48% females, 45.5% with pulmonary embolism). The propensity-weighted rate of post-thrombotic syndrome at 3 years follow-up was 0...

  10. Critically Ill Patients With the Middle East Respiratory Syndrome: A Multicenter Retrospective Cohort Study.

    Science.gov (United States)

    Arabi, Yaseen M; Al-Omari, Awad; Mandourah, Yasser; Al-Hameed, Fahad; Sindi, Anees A; Alraddadi, Basem; Shalhoub, Sarah; Almotairi, Abdullah; Al Khatib, Kasim; Abdulmomen, Ahmed; Qushmaq, Ismael; Mady, Ahmed; Solaiman, Othman; Al-Aithan, Abdulsalam M; Al-Raddadi, Rajaa; Ragab, Ahmed; Al Mekhlafi, Ghaleb A; Al Harthy, Abdulrahman; Kharaba, Ayman; Ahmadi, Mashael Al; Sadat, Musharaf; Mutairi, Hanan Al; Qasim, Eman Al; Jose, Jesna; Nasim, Maliha; Al-Dawood, Abdulaziz; Merson, Laura; Fowler, Robert; Hayden, Frederick G; Balkhy, Hanan H

    2017-10-01

    To describe patient characteristics, clinical manifestations, disease course including viral replication patterns, and outcomes of critically ill patients with severe acute respiratory infection from the Middle East respiratory syndrome and to compare these features with patients with severe acute respiratory infection due to other etiologies. Retrospective cohort study. Patients admitted to ICUs in 14 Saudi Arabian hospitals. Critically ill patients with laboratory-confirmed Middle East respiratory syndrome severe acute respiratory infection (n = 330) admitted between September 2012 and October 2015 were compared to consecutive critically ill patients with community-acquired severe acute respiratory infection of non-Middle East respiratory syndrome etiology (non-Middle East respiratory syndrome severe acute respiratory infection) (n = 222). None. Although Middle East respiratory syndrome severe acute respiratory infection patients were younger than those with non-Middle East respiratory syndrome severe acute respiratory infection (median [quartile 1, quartile 3] 58 yr [44, 69] vs 70 [52, 78]; p < 0.001), clinical presentations and comorbidities overlapped substantially. Patients with Middle East respiratory syndrome severe acute respiratory infection had more severe hypoxemic respiratory failure (PaO2/FIO2: 106 [66, 160] vs 176 [104, 252]; p < 0.001) and more frequent nonrespiratory organ failure (nonrespiratory Sequential Organ Failure Assessment score: 6 [4, 9] vs 5 [3, 7]; p = 0.002), thus required more frequently invasive mechanical ventilation (85.2% vs 73.0%; p < 0.001), oxygen rescue therapies (extracorporeal membrane oxygenation 5.8% vs 0.9%; p = 0.003), vasopressor support (79.4% vs 55.0%; p < 0.001), and renal replacement therapy (48.8% vs 22.1%; p < 0.001). After adjustment for potential confounding factors, Middle East respiratory syndrome was independently associated with death compared to non-Middle East respiratory syndrome severe acute respiratory

  11. Cataract surgery in patients with pseudoexfoliation syndrome: current updates

    Directory of Open Access Journals (Sweden)

    Fontana L

    2017-07-01

    Full Text Available Luigi Fontana, Marco Coassin, Alfonso Iovieno, Antonio Moramarco, Luca Cimino Ophthalmology Unit, Arcispedale Santa Maria Nuova – IRCCS, Reggio Emilia, Italy Abstract: Pseudoexfoliation is a ubiquitous syndrome of multifactorial origin affecting elderly people by increasing the risk of cataract and secondary glaucoma development. Despite modern techniques and technologies for cataract surgery, pseudoexfoliation syndrome represents a challenge for surgeons because of the increased weakness of the zonular apparatus and limited pupil dilation. Due to the inherent difficulties during surgery, the risk of vitreous loss in these patients is several times higher than in cataract patients without pseudoexfoliation. Using currently available surgical devices (ophthalmic viscosurgical device, iris retractors and ring dilators, capsular tension ring, etc., the risk of intraoperative complications may be much reduced, allowing the surgeon to handle difficult cases with greater confidence and safety. This review analyzes the methodologic approach to the patient with zonular laxity with the aim of providing useful advices to limit the risks of intraoperative and postoperative complications. From the preoperative planning, to the intraoperative management of the small pupil and phacodonesis, and to the postoperative correction of capsule phimosis and intraocular lens dislocation, a step approach to the surgical management of pseudoexfoliation patients is illustrated. Keywords: pseudoexfoliation syndrome, cataract surgery, zonular laxity, intraocular lens implant, complications

  12. The characteristics of the patients with Rett syndrome: Case series

    Directory of Open Access Journals (Sweden)

    Dutina Aleksandra

    2016-01-01

    Full Text Available Rett syndrome is a neurodevelopmental disorder caused by mutation in the gene MECP2 on the X chromosome. The main clinical characteristics are breathing disorders, epileptic seizures, scoliosis, walking disability and constipation with frequent growth failure and malnutrition. Our transversal study included 29 female patients with Rett syndrome treated in the Institute for Mother and Child Health Care ''Dr Vukan Čupić'' in Belgrade. The patients were anthropometrically measured by their height and weight and caluculating body mass index. The degree of scolisios, the frequency of epileptic seizures, walking ability and grade of respiratory dysfunction were assessed based on the clinical scales for disease severity estimation. The statistical data analysis was done in the software package PASW Statistics 18. The average age of the patients was 145.5±90.1 months. The average height was 125.2±22.1cm, the average weight 27.6±12.3kg, and the average body mass index was 16.6±3.5kg/m2. The average z scores for height, weight and BMI-for-age were statistically significantly lower in comparison to general population, which is given with negative z scores. There was the statistically significant negative coorelation between the age of patients and the average z scores for height-for-age (r=-0.464 p=0.011, weight-for-age (r=-0.433 p=0.019 and BMI-for-age (r=-0.433 p=0.019. The statistically significant negative coorelation was found between the degree of scoliosis and the average z scores for height and weight-for-age, but not with the average z score for BMI-for-age. The growth failure and malnutrition represent significant problems which are found in Rett syndrome. The detection of factors affecting the growth and nutrition in patients with Rett syndrome could greatly contribute to the improvement of the quality of life in the patients with Rett syndrome and perhaps lead to the correction of the approach of symptomatic and supportive therapy.

  13. Long-term follow-up of patients with Bartter syndrome type I and II.

    Science.gov (United States)

    Puricelli, Elena; Bettinelli, Alberto; Borsa, Nicolò; Sironi, Francesca; Mattiello, Camilla; Tammaro, Fabiana; Tedeschi, Silvana; Bianchetti, Mario G

    2010-09-01

    Little information is available on a long-term follow-up in Bartter syndrome type I and II. Clinical presentation, treatment and long-term follow-up (5.0-21, median 11 years) were evaluated in 15 Italian patients with homozygous (n = 7) or compound heterozygous (n = 8) mutations in the SLC12A1 (n = 10) or KCNJ1 (n = 5) genes. Thirteen new mutations were identified. The 15 children were born pre-term with a normal for gestational age body weight. Medical treatment at the last follow-up control included supplementation with potassium in 13, non-steroidal anti-inflammatory agents in 12 and gastroprotective drugs in five patients. At last follow-up, body weight and height were within normal ranges in the patients. Glomerular filtration rate was Bartter syndrome had a lower renin ratio (P Bartter syndrome. Patients with Bartter syndrome type I and II tend to present a satisfactory prognosis after a median follow-up of more than 10 years. Gallstones might represent a new complication of antenatal Bartter syndrome.

  14. Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report

    OpenAIRE

    Tsukamoto, Masanori; Yamanaka, Hitoshi; Yokoyama, Takeshi

    2017-01-01

    Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn ...

  15. Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report.

    Science.gov (United States)

    Tsukamoto, Masanori; Yamanaka, Hitoshi; Yokoyama, Takeshi

    2017-09-01

    Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn syndrome. The selection of an appropriately sized tracheal tube and maintaining intraoperatively stable hemodynamics might be critical problems for anesthetic management. In patients with short stature, the tracheal tube size may differ from what may be predicted based on age. The appropriate size ( internal diameter ) of tracheal tubes for children has been investigated. Congenital heart disease is frequently associated with Wolf-Hirschhorn syndrome. Depending on the degree and type of heart disease, careful monitoring of hemodynamics is important.

  16. Neuroendocrine-type prostatic adenocarcinoma with microsatellite instability in a patient with lynch syndrome.

    Science.gov (United States)

    Wagner, David G; Gatalica, Zoran; Lynch, Henry T; Kohl, Shane; Johansson, Sonny L; Lele, Subodh M

    2010-12-01

    Lynch syndrome is an autosomal-dominant cancer syndrome that can be identified with microsatellite instability molecular tests or immunohistochemical stains on pathologic material from patients who meet the Amsterdam Criteria II. The development of prostatic carcinoma in situ or invasive small cell carcinoma (SCC) of the prostate has not been previously reported in a patient with this syndrome. In this report, an 87-year-old White man with the Lynch syndrome had a prostate biopsy that revealed a mixed high-grade conventional adenocarcinoma and SCC of the prostate with high-grade prostatic intraepithelial neoplasia of the small cell neuroendocrine-type (HGPIN-NE), all showing MSH2 microsatellite instability and loss of MSH2 expression, a finding not previously published. These findings suggest that HGPIN-NE is a precursor of invasive SCC and also that prostatic SCC can develop in a patient with the Lynch syndrome.

  17. Ultrastructural pathology of aortic dissections in patients with Marfan syndrome: Comparison with dissections in patients without Marfan syndrome

    NARCIS (Netherlands)

    Dingemans, Koert P.; Teeling, Peter; van der Wal, Allard C.; Becker, Anton E.

    2006-01-01

    Despite the discovery in 1990 that mutations in the fibrillin-1 gene cause the Marfan syndrome, the pathogenesis of the life-threatening dissections associated with this disease is far from elucidated. Both the massive number of known fibrillin-1 mutations that result in a heterogeneous patient

  18. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome

    DEFF Research Database (Denmark)

    Worm, Signe H.Westring; Friis-Møller, Nina; Bruyand, Mathias

    2010-01-01

    This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time....

  19. Neuropsychological profile of a male psychiatric patient with a Morgagni-Stewart-Morel syndrome.

    Science.gov (United States)

    Hansen, Aksel; Engelhardt, Liliana; Pleschutznig, Wolfgang; Dammann, Gerhard; Vietze, Stephanie

    2015-02-01

    In 1765 Giovanni Morgagni described a syndrome consisting of hyperostosis frontalis interna (HFI), obesity and hirsutism. In 1928 Stewart and in 1930 Morel added neuropsychiatric symptoms, e.g. depression and dementia, which led to the definition of the Morgagni-Stewart-Morel Syndrome (MSM). Although mostly women were characterized in literature no gender specifity is demanded. This case report presents the rare case of a 66 year old male psychiatric patient with Morgagni-Stewart-Morel Syndrome. The patient complained of loss of concentration and difficulties with activities of daily living. Admission diagnosis was an opioid misuse on the basis of a chronic pain syndrome. In this case report we are describing clinical features, the patient history and technical (MRI) and neuropsychological tests. Although severe psychiatric symptoms and neuropsychological deficits are commonly seen in these patients, our patient showed only mild symptoms. This case reports shows the possibility of a male patient with MSM. If MSM is a separate entity or just an epiphenomena of hormone dysregulation should be investigated in further studies.

  20. Glycated albumin is set lower in relation to plasma glucose levels in patients with Cushing's syndrome.

    Science.gov (United States)

    Kitamura, Tetsuhiro; Otsuki, Michio; Tamada, Daisuke; Tabuchi, Yukiko; Mukai, Kosuke; Morita, Shinya; Kasayama, Soji; Shimomura, Iichiro; Koga, Masafumi

    2013-09-23

    Glycated albumin (GA) is an indicator of glycemic control, which has some specific characters in comparison with HbA1c. Since glucocorticoids (GC) promote protein catabolism including serum albumin, GC excess state would influence GA levels. We therefore investigated GA levels in patients with Cushing's syndrome. We studied 16 patients with Cushing's syndrome (8 patients had diabetes mellitus and the remaining 8 patients were non-diabetic). Thirty-two patients with type 2 diabetes mellitus and 32 non-diabetic subjects matched for age, sex and BMI were used as controls. In the patients with Cushing's syndrome, GA was significantly correlated with HbA1c, but the regression line shifted downwards as compared with the controls. The GA/HbA1c ratio in the patients with Cushing's syndrome was also significantly lower than the controls. HbA1c in the non-diabetic patients with Cushing's syndrome was not different from the non-diabetic controls, whereas GA was significantly lower. In 7 patients with Cushing's syndrome who performed self-monitoring of blood glucose, the measured HbA1c was matched with HbA1c estimated from mean blood glucose, whereas the measured GA was significantly lower than the estimated GA. We clarified that GA is set lower in relation to plasma glucose levels in patients with Cushing's syndrome. Copyright © 2013 Elsevier B.V. All rights reserved.

  1. Increased Prevalence of Cerebrovascular Disease in Hospitalized Patients with Marfan Syndrome.

    Science.gov (United States)

    Kim, Sarasa T; Cloft, Harry; Flemming, Kelly D; Kallmes, David F; Lanzino, Giuseppe; Brinjikji, Waleed

    2018-02-01

    Small studies have suggested that Marfan syndrome is associated with a number of cerebrovascular complications. We sought to determine whether a clinical diagnosis of Marfan syndrome is associated with a higher prevalence of cerebrovascular diseases than the general population by performing a case-control study of hospitalized patients in the Nationwide Inpatient Sample (NIS). Using the 2000-2012 NIS, we performed a case-control study matching cases of Marfan syndrome to controls without such a diagnosis. The prevalence of various cerebrovascular diseases between the 2 groups were compared, and multivariate logistic regression was used to adjust for suspected comorbidities. Between 2000 and 2012, there were a total of 13,883 discharges carrying a diagnosis of Marfan syndrome. On univariate analysis, patients with Marfan syndrome were more likely to have a primary or secondary diagnosis of hemorrhagic stroke (0.5% versus 0.3%, odds ratio [OR] = 1.56, 95% confidence interval [CI] = 1.06-2.29, P = 0.02) as well as intracranial hemorrhage (subarachnoid hemorrhage [SAH] and hemorrhagic stroke) (0.3% versus 0.2%, OR = 1.72, 95% CI = 1.05-2.82, P = 0.03). Patients hospitalized with Marfan syndrome were significantly more likely to have carotid dissection (0.3% versus 0.0%, OR = 11.69, 95% CI = 3.60-38.08, P Marfan syndrome had significantly higher odds of ischemic stroke (OR = 1.20, 95% CI = 1.02-1.43, P = 0.03), hemorrhagic stroke (OR = 1.75, 95% CI = 1.18-2.63, P = 0.005), carotid artery dissection (OR = 11.94, 95% CI = 4.23-50.03, P Marfan syndrome when compared with controls. Copyright © 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  2. Computed tomography assessment of bone lesions in patients with POEMS syndrome

    International Nuclear Information System (INIS)

    Glazebrook, K.; Johnson, Adam; Leng, S.; Dispenzieri, A.; Guerra Bonilla, Francis L.

    2015-01-01

    To describe the imaging findings on computed tomography (CT) and skeletal survey (SS) in patients with POEMS syndrome. We retrospectively reviewed, with institutional review board approval, the dysproteinemia database at our institution for patients with new diagnosis of POEMS syndrome between January 1998 and December 2008. Twenty-four patients were identified with PET/CT or CT and had skeletal survey (SS) available for review. Twenty-four patients were included in the study group with median age of 47 years. All CTs demonstrated at least one sclerotic lesion. The most common pattern was multiple small lesions, with 18 patients (75 %) having at least 5 lesions less than 1 cm. The larger lesions had a central lytic component and were FDG avid. SS had a false negative rate of 36 % (8 patients). Serial CT after treatment showed a decrease in size and number of sclerotic lesions in 53 % of cases (13 patients), the majority showing increased sclerosis. Two patients had complete resolution of sclerotic lesions. CT identified sclerotic lesions in all study patients with POEMS syndrome, the majority being less than 1 cm in size, which were not identified radiographically. CT may demonstrate increased sclerosis or even resolution of sclerotic lesions corresponding to treatment response. (orig.)

  3. Computed tomography assessment of bone lesions in patients with POEMS syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Glazebrook, K.; Johnson, Adam; Leng, S.; Dispenzieri, A. [Mayo Clinic, Rochester, MN (United States); Guerra Bonilla, Francis L. [Hospital Regional Rafael Hernandez, Hematology Division, David, Chiriqui (Panama)

    2014-09-25

    To describe the imaging findings on computed tomography (CT) and skeletal survey (SS) in patients with POEMS syndrome. We retrospectively reviewed, with institutional review board approval, the dysproteinemia database at our institution for patients with new diagnosis of POEMS syndrome between January 1998 and December 2008. Twenty-four patients were identified with PET/CT or CT and had skeletal survey (SS) available for review. Twenty-four patients were included in the study group with median age of 47 years. All CTs demonstrated at least one sclerotic lesion. The most common pattern was multiple small lesions, with 18 patients (75 %) having at least 5 lesions less than 1 cm. The larger lesions had a central lytic component and were FDG avid. SS had a false negative rate of 36 % (8 patients). Serial CT after treatment showed a decrease in size and number of sclerotic lesions in 53 % of cases (13 patients), the majority showing increased sclerosis. Two patients had complete resolution of sclerotic lesions. CT identified sclerotic lesions in all study patients with POEMS syndrome, the majority being less than 1 cm in size, which were not identified radiographically. CT may demonstrate increased sclerosis or even resolution of sclerotic lesions corresponding to treatment response. (orig.)

  4. Severe Fever with Thrombocytopenia Syndrome in Patients Suspected of Having Scrub Typhus.

    Science.gov (United States)

    Wi, Yu Mi; Woo, Hye In; Park, Dahee; Lee, Keun Hwa; Kang, Cheol-In; Chung, Doo Ryeon; Peck, Kyong Ran; Song, Jae-Hoon

    2016-11-01

    To determine prevalence of severe fever with thrombocytopenia syndrome in South Korea, we examined serum samples from patients with fever and insect bite history in scrub typhus-endemic areas. During the 2013 scrub typhus season, prevalence of this syndrome among patients suspected of having scrub typhus was high (23.0%), suggesting possible co-infection.

  5. Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

    Science.gov (United States)

    Keel, Siobán B.; Scott, Angela; Sanchez-Bonilla, Marilyn; Ho, Phoenix A.; Gulsuner, Suleyman; Pritchard, Colin C.; Abkowitz, Janis L.; King, Mary-Claire; Walsh, Tom; Shimamura, Akiko

    2016-01-01

    The clinical and histopathological distinctions between inherited versus acquired bone marrow failure and myelodysplastic syndromes are challenging. The identification of inherited bone marrow failure/myelodysplastic syndromes is critical to inform appropriate clinical management. To investigate whether a subset of pediatric and young adults undergoing transplant for aplastic anemia or myelodysplastic syndrome have germline mutations in bone marrow failure/myelodysplastic syndrome genes, we performed a targeted genetic screen of samples obtained between 1990–2012 from children and young adults with aplastic anemia or myelodysplastic syndrome transplanted at the Fred Hutchinson Cancer Research Center. Mutations in inherited bone marrow failure/myelodysplastic syndrome genes were found in 5.1% (5/98) of aplastic anemia patients and 13.6% (15/110) of myelodysplastic syndrome patients. While the majority of mutations were constitutional, a RUNX1 mutation present in the peripheral blood at a 51% variant allele fraction was confirmed to be somatically acquired in one myelodysplastic syndrome patient. This highlights the importance of distinguishing germline versus somatic mutations by sequencing DNA from a second tissue or from parents. Pathological mutations were present in DKC1, MPL, and TP53 among the aplastic anemia cohort, and in FANCA, GATA2, MPL, RTEL1, RUNX1, SBDS, TERT, TINF2, and TP53 among the myelodysplastic syndrome cohort. Family history or physical examination failed to reliably predict the presence of germline mutations. This study shows that while any single specific bone marrow failure/myelodysplastic syndrome genetic disorder is rare, screening for these disorders in aggregate identifies a significant subset of patients with inherited bone marrow failure/myelodysplastic syndrome. PMID:27418648

  6. Idiopathic mitral valve disease in a patient presenting with Axenfeld-Rieger syndrome.

    Science.gov (United States)

    Antevil, Jared; Umakanthan, Ramanan; Leacche, Marzia; Brewer, Zachary; Solenkova, Natalia; Byrne, John G; Greelish, James P

    2009-05-01

    A 33-year-old, previously healthy male presented with respiratory distress and underwent intubation. A physical examination revealed a holosystolic murmur and pupillary abnormalities. Echocardiography revealed a flail anterior mitral valve leaflet with ruptured chordae and severe mitral regurgitation. The patient underwent urgent mitral valve replacement and tolerated the procedure well. The mitral valve leaflet was myxomatous and calcified -- an unusual find in such a patient. An ophthalmology consultation was obtained and the patient diagnosed with Axenfeld-Rieger syndrome, a disorder of the anterior ocular chamber that has been associated with cardiac malformations. The present case report adds to the body of literature which suggests a correlation between Axenfeld-Rieger syndrome and valvular abnormalities. Hence, it is believed prudent that patients with Axenfeld-Rieger syndrome should undergo echocardiographic screenings for valvular abnormalities.

  7. Patients with old age or proximal tumors benefit from metabolic syndrome in early stage gastric cancer.

    Directory of Open Access Journals (Sweden)

    Xiao-li Wei

    Full Text Available BACKGROUND: Metabolic syndrome and/or its components have been demonstrated to be risk factors for several cancers. They are also found to influence survival in breast, colon and prostate cancer, but the prognostic value of metabolic syndrome in gastric cancer has not been investigated. METHODS: Clinical data and pre-treatment information of metabolic syndrome of 587 patients diagnosed with early stage gastric cancer were retrospectively collected. The associations of metabolic syndrome and/or its components with clinical characteristics and overall survival in early stage gastric cancer were analyzed. RESULTS: Metabolic syndrome was identified to be associated with a higher tumor cell differentiation (P=0.036. Metabolic syndrome was also demonstrated to be a significant and independent predictor for better survival in patients aged >50 years old (P=0.009 in multivariate analysis or patients with proximal gastric cancer (P=0.047 in multivariate analysis. No association was found between single metabolic syndrome component and overall survival in early stage gastric cancer. In addition, patients with hypertension might have a trend of better survival through a good control of blood pressure (P=0.052 in univariate analysis. CONCLUSIONS: Metabolic syndrome was associated with a better tumor cell differentiation in patients with early stage gastric cancer. Moreover, metabolic syndrome was a significant and independent predictor for better survival in patients with old age or proximal tumors.

  8. Clinical and ultrasound features in patients with intersection syndrome or de Quervain's disease.

    Science.gov (United States)

    Sato, J; Ishii, Y; Noguchi, H

    2016-02-01

    We investigated the demographic characteristics of patients who were diagnosed with intersection syndrome and also investigated the dominance of the affected hand, duration of symptoms and any precipitating factor for pain of the wrist. These features were compared with patients who had de Quervain's disease. Ultrasonography was used to confirm the clinical diagnosis. Intersection syndrome occurred more frequently in men and in the dominant hand than de Quervain's disease when all the patients were compared and when peripartum women were excluded. It occurred at a younger age than de Quervain's disease only when the comparison excluded peripartum women. Patients with intersection syndrome presented with a much shorter duration of symptoms. These results were consistent with previous reports about occupational factors in intersection syndrome, and might be helpful in the understanding of epidemiological difference between the two conditions. Level 3. © The Author(s) 2015.

  9. Metabolic syndrome criteria as predictors of insulin resistance, inflammation and mortality in chronic hemodialysis patients.

    Science.gov (United States)

    Vogt, Barbara Perez; Souza, Priscilla L; Minicucci, Marcos Ferreira; Martin, Luis Cuadrado; Barretti, Pasqual; Caramori, Jacqueline Teixeira

    2014-10-01

    Abstract Background: Chronic kidney disease (CKD) and metabolic syndrome are characterized by overlapping disorders, including glucose intolerance, hypertension, dyslipidemia, and, in some cases, obesity. However, there are no specific criteria for the diagnosis of metabolic syndrome in CKD. Metabolic syndrome can also be associated with increased risk of mortality. Some traditional risk factors may protect dialysis patients from mortality, known as "reverse epidemiology." Metabolic syndrome might undergo reverse epidemiology. The objectives were to detect differences in frequency and metabolic characteristics associated with three sets of diagnostic criteria for metabolic syndrome, to evaluate the accuracy of insulin resistance (IR) and inflammation to identify patients with metabolic syndrome, and to investigate the effects of metabolic syndrome by three sets of diagnostic criteria on mortality in chronic hemodialysis patients. An observational study was conducted. Diagnostic criteria for metabolic syndrome proposed by National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III), International Diabetes Federation (IDF), and Harmonizing the Metabolic Syndrome (HMetS) statement were applied to 98 hemodialysis patients. The prevalence of metabolic syndrome was 51%, 66.3%, and 75.3% according to NCEP ATP III, IDF, and HMetS criteria, respectively. Diagnosis of metabolic syndrome by HMetS was simultaneously capable of revealing both inflammation and IR, whereas NCEP ATP III and IDF criteria were only able to identify IR. Mortality risk increased in the presence of metabolic syndrome regardless of the criteria used. The prevalence of metabolic syndrome in hemodialysis varies according to the diagnostic criteria used. IR and inflammation predict metabolic syndrome only when diagnosed by HMetS criteria. HMetS was the diagnostic criteria that can predict the highest risk of mortality.

  10. Selective preservation of anterior pituitary functions in patients with Sheehan′s syndrome

    Directory of Open Access Journals (Sweden)

    Bashir Ahmad Laway

    2011-01-01

    Full Text Available Background: Sheehan′s syndrome manifests as hypopituitarism following a child birth usually preceded by postpartum hemorrhage. The symptoms range from vague feelings of ill health to symptoms of a full blown panhypopituitarism. A large series of such patients is not described in the literature. Materials and Methods: We present the details of ten women with partial Sheehan′s syndrome. They presented with post-partum hemorrhage and lactation failure. Results: After delivery, seven out of ten patients had regular menstrual cycles indicating preservation of gonadotroph function. Lactotroph, thyrotroph, and somatotroph failure were present in all and corticotrophs preservation was documented in four out of ten patients. The hypophysial magnetic resonance imaging (MRI confirmed empty sella in all. Conclusion: lactotroph, somatotroph and thyrotroph failure are common in patients with Sheehan′s syndrome. In addition to known preservation of gonadotroph axis, corticotroph axis may be preserved in some of these patients arguing against the universal treatment of these patients with glucocorticoids.

  11. Inferring the demographic history of African farmers and pygmy hunter-gatherers using a multilocus resequencing data set.

    Directory of Open Access Journals (Sweden)

    Etienne Patin

    2009-04-01

    Full Text Available The transition from hunting and gathering to farming involved a major cultural innovation that has spread rapidly over most of the globe in the last ten millennia. In sub-Saharan Africa, hunter-gatherers have begun to shift toward an agriculture-based lifestyle over the last 5,000 years. Only a few populations still base their mode of subsistence on hunting and gathering. The Pygmies are considered to be the largest group of mobile hunter-gatherers of Africa. They dwell in equatorial rainforests and are characterized by their short mean stature. However, little is known about the chronology of the demographic events-size changes, population splits, and gene flow--ultimately giving rise to contemporary Pygmy (Western and Eastern groups and neighboring agricultural populations. We studied the branching history of Pygmy hunter-gatherers and agricultural populations from Africa and estimated separation times and gene flow between these populations. We resequenced 24 independent noncoding regions across the genome, corresponding to a total of approximately 33 kb per individual, in 236 samples from seven Pygmy and five agricultural populations dispersed over the African continent. We used simulation-based inference to identify the historical model best fitting our data. The model identified included the early divergence of the ancestors of Pygmy hunter-gatherers and farming populations approximately 60,000 years ago, followed by a split of the Pygmies' ancestors into the Western and Eastern Pygmy groups approximately 20,000 years ago. Our findings increase knowledge of the history of the peopling of the African continent in a region lacking archaeological data. An appreciation of the demographic and adaptive history of African populations with different modes of subsistence should improve our understanding of the influence of human lifestyles on genome diversity.

  12. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome

    NARCIS (Netherlands)

    Worm, Signe W.; Friis-Møller, Nina; Bruyand, Mathias; D'Arminio Monforte, Antonella; Rickenbach, Martin; Reiss, Peter; El-Sadr, Wafaa; Phillips, Andrew; Lundgren, Jens; Sabin, Caroline; de Wolf, F.; Zaheri, S.; Gras, L.; Bronsveld, W.; Hillebrand-Haverkort, M. E.; Prins, J. M.; Bos, J. C.; Eeftinck Schattenkerk, J. K. M.; Geerlings, S. E.; Godfried, M. H.; Lange, J. M. A.; van Leth, F. C.; Lowe, S. H.; van der Meer, J. T. M.; Nellen, F. J. B.; Pogány, K.; van der Poll, T.; Ruys, Th A.; Steingrover, R.; van Twillert, G.; van der Valk, M.; van Vonderen, M. G. A.; Vrouenraets, S. M. E.; van Vugt, M.; Wit, F. W. M. N.; van Eeden, A.; ten Veen, J. H.; van Dam, P. S.; Roos, J. C.; Brinkman, K.; Frissen, P. H. J.; Weigel, H. M.; Mulder, J. W.; van Gorp, E. C. M.; Meenhorst, P. L.; Mairuhu, A. T. A.; Veenstra, J.; Danner, S. A.; van Agtmael, M. A.; Claessen, F. A. P.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time.

  13. High prevalence of the metabolic syndrome in HIV-infected patients : impact of different definitions of the metabolic syndrome

    NARCIS (Netherlands)

    Worm, Signe W; Friis-Møller, Nina; Bruyand, Mathias; D'Arminio Monforte, Antonella; Rickenbach, Martin; Reiss, Peter; El-Sadr, Wafaa; Phillips, Andrew; Lundgren, Jens; Sabin, Caroline; Schölvinck, Elisabeth H.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time.

  14. Primary myelodysplastic syndrome with complex chromosomal rearrangements in a patient with Klinefelter's syndrome.

    OpenAIRE

    Abidi, S M; Griffiths, M; Oscier, D G; Mufti, G J; Hamblin, T J

    1986-01-01

    A patient with Klinefelter's syndrome and diabetes mellitus was diagnosed as having myelodysplasia. Cytogenetic analysis of the peripheral blood and the bone marrow cells confirmed the presence of a constitutional 47,XXY chromosome complement. In addition, complex karyotypic abnormalities were present.

  15. Bone lesions in Chinese POEMS syndrome patients: imaging characteristics and clinical implications.

    Science.gov (United States)

    Wang, Fengdan; Huang, Xufei; Zhang, Yan; Li, Jian; Zhou, Daobin; Jin, Zhengyu

    2016-01-01

    Objective. Bone lesion is crucial for diagnosing and management of polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin change (POEMS) syndrome, a rare plasma cell disorder. This study is to compare the effectiveness of X-ray skeletal survey (SS) and computed tomography (CT) for detecting bone lesions in Chinese POEMS syndrome patients, and to investigate the relationship between bone lesion features and serum markers. Methods. SS and chest/abdomen/pelvic CT images of 38 Chinese patients (26 males, 12 females, aged 21-70 years) with POEMS syndrome recruited at our medical center between January 2013 and January 2015 were retrospectively analyzed. Bone lesions identified by CT were further categorized according to the size (10 mm) and appearance (osteosclerotic, lytic, mixed). The percentage of plasma cells in bone marrow smears, type of immunoglobulin, platelet (Plt), and levels of serum bone metabolic markers and inflammatory factors including alkaline phosphatase (ALP), calcium, phosphate, parathyroid hormone (PTH), beta-isomerized C-telopeptide (β-CTx), vascular endothelial growth factor (VEGF), and interleukin (IL)-6 levels were also recorded. Results. Of the 38 POEMS syndrome patients, the immunoglobulin heavy chain isotypes were IgA in 25 patients (65.8%; 25/38) and IgG in 13 patients (34.2%; 13/38), and the light chain isotypes were λ in 35 patients (92.1%; 35/38) and κ in 3 patients (7.9%; 3/38). There were 23 patients with thrombocytosis. More patients with bone lesions were detected by CT than by SS (97.4% vs. 86.8%). The most commonly affected location was the pelvis (89.5%), followed by the spine, clavicle/scapula/sternum/ribs, skull, and long bones. Of the 38 POEMS syndrome patients, 35 (94.6%) had osteosclerotic and 32 (86.5%) had mixed lesions. Osteosclerotic lesions were typically scattered, variable in size, and plaque-like, whereas mixed lesions were pouch-shaped or soup bubble-like with a clear sclerotic margin and were

  16. Carbamazepine and oxcarbazepine in adult patients with Dravet syndrome: Friend or foe?

    Science.gov (United States)

    Snoeijen-Schouwenaars, F M; Veendrick, M J B M; van Mierlo, P; van Erp, G; de Louw, A J A; Kleine, B U; Schelhaas, H J; Tan, I Y

    2015-07-01

    In newly diagnosed patients with Dravet syndrome sodium channel blockers are usually avoided. However, in many adult patients the diagnosis was made long after the initiation of therapy. The purpose of our study was to acquire information concerning the potential risks and benefits of (ox)carba(ma)zepine withdrawal in adult patients with genetically confirmed Dravet syndrome. We identified 16 adults with Dravet syndrome, living in a tertiary care facility for people with epilepsy and an intellectual disability. We reviewed clinical history, genetic findings, the type and duration of sodium channels blockers that were used, seizure types and frequency, and the effect of a change in these medications. The study population consisted of 9 men and 7 women. Median age was 35 years (range 20-61 years). An attempt to withdraw carbamazepine (CBZ) was made in 9 patients. In 3 of these patients an increase in tonic-clonic seizures was observed. An attempt to withdraw oxcarbazepine (OXC) was made in 3 patients, leading to a complete stop in 2 patients. 3 of the 4 deaths in the withdrawal-group were related to epilepsy. In adult patients with Dravet syndrome withdrawal of CBZ or OXC is not without risks. We suggest that (ox)carba(ma)zepine withdrawal should be considered in these patients but only if there is a good reason to do so and only if they are closely monitored. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  17. From Head-hunter to Organ-thief: Verisimilitude, Doubt and Plausible Worlds in Indonesia and Beyond

    DEFF Research Database (Denmark)

    Bubandt, Nils Ole

    2017-01-01

    their victims and using the human heads in construction rituals as they used to do, head-hunters are now allegedly harvesting the victims’ organs for sale on the international organ market. Based on a comparison of ethnographic material from North Maluku, a province in the eastern part of Indonesia, and news...... reports I trace the shift from head-hunting to organ theft and suggest that this plasticity is not merely a symbolic representation of changing political and economic realities. Rather, I argue, the organ-stealing head-hunters are part of a global travelling package that includes and entangles organ...... trafficking practices, media accounts, political imaginaries, and social anxieties within the same field of reality and possibility, a field of verisimilitude in which fiction and fact, rumour and reality, are fundamentally blurred. The article proposes a ‘more-than-representational’ approach to the organ...

  18. Evaluation of cardiovascular anomalies in patients with asymptomatic turner syndrome using multidetector computed tomography.

    Science.gov (United States)

    Lee, Sun Hee; Jung, Ji Mi; Song, Min Seob; Choi, Seok jin; Chung, Woo Yeong

    2013-08-01

    Turner syndrome is well known to be associated with significant cardiovascular abnormalities. This paper studied the incidence of cardiovascular abnormalities in asymptomatic adolescent patients with Turner syndrome using multidetector computed tomography (MDCT) instead of echocardiography. Twenty subjects diagnosed with Turner syndrome who had no cardiac symptoms were included. Blood pressure and electrocardiography (ECG) was checked. Cardiovascular abnormalities were checked by MDCT. According to the ECG results, 11 had a prolonged QTc interval, 5 had a posterior fascicular block, 3 had a ventricular conduction disorder. MDCT revealed vascular abnormalities in 13 patients (65%). Three patients had an aberrant right subclavian artery, 2 had dilatation of left subclavian artery, and others had an aortic root dilatation, aortic diverticulum, and abnormal left vertebral artery. As for venous abnormalities, 3 patients had partial anomalous pulmonary venous return and 2 had a persistent left superior vena cava. This study found cardiovascular abnormalities in 65% of asymptomatic Turner syndrome patients using MDCT. Even though, there are no cardiac symptoms in Turner syndrome patients, a complete evaluation of the heart with echocardiography or MDCT at transition period to adults must be performed.

  19. Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome.

    Science.gov (United States)

    Hou, Yikang; Jin, Yunbo; Lin, Xiaoxi; Chai, Gang; Zhang, Yan; Qi, Zuoliang

    2017-06-01

    Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. These manifestations are usually corrected only with oral rehabilitation by mounting dentures. In this study, plastic rehabilitation was developed to correct the special features of patients with ectodermal dysplasia. Four men and 1 woman with ectodermal dysplasia syndrome were treated. Four patients showed dysostosis of the midface, and rhinoplasty with costal bone was performed, whereas cosmetic operation aiming to repair soft tissue defects was adopted for the last patient. After plastic corrections, all 5 patients were satisfied with the results and had no social embarrassment.

  20. The clinical characteristics and new classification of sticky eyelid syndrome in East Asian patients.

    Science.gov (United States)

    Chang, Minwook; Lee, Hwa; Park, Min Soo; Baek, Sehyun

    2014-12-01

    The aim of this study was to demonstrate the characteristics of sticky eyelid syndrome (SES) and to suggest a modified definition and new classification of the disease in relation to the severity of the syndrome in East Asian patients. Forty-four eyes of 31 patients with sticky eyelid syndrome were included in this study. The medical records of patients who were diagnosed with sticky eyelid syndrome were retrospectively reviewed. Sticky eyelid syndrome was defined as an abnormal adhesion between the upper and lower eyelids during blinking. We divided the subjects into four grades according to the severity of the disease. Among 31 patients, there were 10 men and 21 women. The mean age of patients was 62.5 years. A total of 13 patients had SES bilaterally. All patients had meibomian gland dysfunction (MGD). Thirty-three eyes had dermatochalasis, and 30 eyes had involutional ptosis. Horizontal lower lid laxity was observed in 23 eyes, and reverse ptosis found in 15 eyes. Patients were classified into four groups as follows: G1: 11 (25%), G2: 24 (54.5%), G3: 6 (13.6%) and G4: 3 eyes (6.8%). Patients in Grade 1 tended to improve only with medical treatment for MGD. However, surgical management was necessary for patients in Grades 3 and 4. Meibomian gland dysfunction is a fundamental risk factor for developing sticky eyelid syndrome. Further, combined upper lid ptosis or lower lid laxity may be aggravating factors. According to the grading, medical or surgical management can be chosen. © 2014 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  1. Craniofacial abnormalities among patients with Edwards Syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2013-09-01

    Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

  2. Computed tomography in patients with Ehlers-Danlos syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hagino, Hiroshi; Sugitani, Akitoshi; Eda, Isematsu; Takashima, Sachio; Takeshita, Kenzo

    1985-09-01

    Three patients with Ehlers-Danlos syndrome were reported. Unusual findings on computed tomography were seen in two of the three patients. One case showed peculiar and marked dilatation of the 4th ventricle, supracerebellar cistern and lateral ventricle. The other case presented disproportionate enlargement of the anterior horn of the lateral ventricle. These CT findings in the two patients suggest that developmental abnormalities may constitute a structural defect.

  3. Computed tomography in patients with Ehlers-Danlos syndrome

    International Nuclear Information System (INIS)

    Hagino, Hiroshi; Sugitani, Akitoshi; Eda, Isematsu; Takashima, Sachio; Takeshita, Kenzo

    1985-01-01

    Three patients with Ehlers-Danlos syndrome were reported. Unusual findings on computed tomography were seen in two of the three patients. One case showed peculiar and marked dilatation of the 4th ventricle, supracerebellar cistern and lateral ventricle. The other case presented disproportionate enlargement of the anterior horn of the lateral ventricle. These CT findings in the two patients suggest that developmental abnormalities may constitute a structural defect. (orig.)

  4. 3-M syndrome: description of six new patients with review of the literature.

    NARCIS (Netherlands)

    Wal, G. van der; Otten, B.J.; Brunner, H.G.; Burgt, C.J.A.M. van der

    2001-01-01

    3-M syndrome combines pre- and postnatal growth retardation and dysmorphic facial features with autosomal recessive inheritance. Six new patients with 3-M syndrome are described and compared with 28 cases from the literature. Our six patients have a growth pattern, which parallels that of

  5. Severity of dry eye syndrome is related to anti-dsDNA autoantibody in systemic lupus erythematosus patients without secondary Sjogren syndrome: A cross-sectional analysis.

    Science.gov (United States)

    Chen, Alexander; Chen, Hung-Ta; Hwang, Yih-Hsiou; Chen, Yi-Tsun; Hsiao, Ching-Hsi; Chen, Hung-Chi

    2016-07-01

    There are as many as one-third of the systemic lupus erythematosus (SLE) patients who suffer from dry eye syndrome. To this date, dry eye syndrome in SLE patients is believed to be caused by secondary Sjogren syndrome (sSS). However, there is increasing evidence for possible independency of dry eye syndrome and sSS in patients suffering from autoimmune diseases. The purpose of this retrospective observational case series was to identify SLE patients without sSS who had dry eye syndrome, examine the correlation of different autoantibodies and dry eye severity, and determine the cause of dry eye in these patients.We included 49 consecutive SLE patients with dry eye who visited our dry eye clinic. In order to rule out sSS, these patients were all negative for anti-Sjogren's-syndrome-related antigen A and B (anti-SSA/SSB) and had no oral symptoms. Each patient's lupus activity was determined by serological tests including antidouble-stranded DNA antibody (anti-dsDNA), complement levels (C3, C4), erythrocyte sedimentation rate (ESR), and antinuclear antibody (ANA). Severity of dry eye syndrome was determined by corneal sensation (KSen), superficial punctuate keratopathy (SPK), Schirmer-I test (Schirmer), and tear film break-up time (TBUT). The autoantibodies and the dry eye parameters in each group were tested using the χ test or the Mann-Whitney U test for normally distributed or skewed data, respectively.The anti-dsDNA showed significant correlations with KSen (P dry eye parameters were observed between C4, ESR, and ANA.The major finding of this study was that the severity of dry eye syndrome in SLE patients without sSS was strongly correlated with anti-dsDNA and C3 but not with C4, ESR, and ANA.

  6. Effects of canrenone in patients with metabolic syndrome.

    Science.gov (United States)

    Derosa, Giuseppe; Bonaventura, Aldo; Bianchi, Lucio; Romano, Davide; D'Angelo, Angela; Fogari, Elena; Maffioli, Pamela

    2013-11-01

    Metabolic syndrome is becoming a common disease due to a rise in obesity rates among adults. The aim was to evaluate the effects of canrenone compared to placebo on metabolic and inflammatory parameters in patients affected by metabolic syndrome. A total of 145 patients were treated with placebo or canrenone, 50 mg/day, for 3 months and then 50 mg b.i.d. till the end of the study. Blood pressure, body weight, body mass index, fasting plasma glucose (FPG), fasting plasma insulin, HOMA-IR, lipid profile, plasma aldosterone, brain natriuretic peptide, high-sensitivity C-reactive protein (Hs-CRP), tumor necrosis factor-α (TNF-α) and M value were evaluated. A decrease of blood pressure was observed in canrenone group compared to baseline; moreover, systolic blood pressure value recorded after 6 months of canrenone therapy was lower than the one recorded with placebo. Canrenone gave a significant decrease of FPI and HOMA index, and an increase of M value both compared to baseline and to placebo. Canrenone also decreased triglycerides and FPG was not observed with placebo. Canrenone also decreased plasma aldosterone, Hs-CRP and TNF-α compared to baseline and to placebo. Canrenone seems to be effective in reducing some factors involved in metabolic syndrome and in improving insulin-resistance and the inflammatory state observed in these patients.

  7. Brain and ventricular volume in patients with syndromic and complex craniosynostosis

    NARCIS (Netherlands)

    T. de Jong (Tim); B.F.M. Rijken (Bianca); M. Leguin (Maarten); M.L.C. van Veelen-Vincent (Marie-Lise); I.M.J. Mathijssen (Irene)

    2012-01-01

    textabstractPurpose: Brain abnormalities in patients with syndromic craniosynostosis can either be a direct result of the genetic defect or develop secondary to compression due to craniosynostosis, raised ICP or hydrocephalus. Today it is unknown whether children with syndromic craniosynostosis have

  8. The identification of Lynch syndrome in Congolese colorectal cancer patients.

    Science.gov (United States)

    Poaty, Henriette; Aba Gandzion, Chandra; Soubeyran, Isabelle; Gassaye, Déby; Peko, Jean Félix; Nkoua Bon, Jean Bernard; Gombé Mbalawa, Charles

    2017-10-01

    We aimed to investigate the prevalence of Lynch syndrome as one of hereditary causes of colorectal cancer (CRC) among young Congolese individuals affected by the CRC, and to define methods for diagnosis in Congo Brazzaville. We conducted a transversal cohort study of 34 patients having a CRC with a family history for a period of eight years. They were selected among 89 CRCs of any type from the Bethesda guidelines criteria combined with pedigrees. Mismatch repair (MMR) genes alterations were researched by immunohistochemistry (IHC). We identified with the Bethesda criteria a total of 38.2% (34/89) patients having familial CRC with a confidence interval (CI) of 95%=[0.34-0.41]. Only 14.7% (5/34) 95% CI=[0.34-2.32] patients showed MMR immunodeficiency involving firstly MLH1 protein then MSH2 protein. These data account for 5.6% (5/89) 95% CI=[0.15-0.33] of patients affected by Lynch syndrome with an earlier median age of 35 years (range 20 to 47 years). The prevalence of Lynch syndrome found in Brazzaville is comparable to that is found in northern countries. The combined Bethesda guidelines, pedigree and IHC is an accessible and good alternative method for the positive diagnosis of Lynch syndrome in current practice in Congo. Copyright © 2017 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.

  9. Cytokine expression in patients with bladder pain syndrome/interstitial cystitis ESSIC type 3C.

    Science.gov (United States)

    Logadottir, Yr; Delbro, Dick; Fall, Magnus; Gjertsson, Inger; Jirholt, Pernilla; Lindholm, Catharina; Peeker, Ralph

    2014-11-01

    Bladder wall nitric oxide production in patients with bladder pain syndrome type 3C is increased compared to undetectable nitric oxide in patients with nonHunner bladder pain syndrome and healthy controls. However, the underlying mechanism/s of the increased nitric oxide production is largely unknown. We compared mRNA expression of a select group of cytokines in patients with bladder pain syndrome/interstitial cystitis type 3C and in pain-free controls. Cold cup biopsies from 7 patients with bladder pain syndrome type 3C and 6 healthy subjects were analyzed. mRNA expression of IL-4, 6, 10 and 17A, iNOS, TNF-α, TGF-β and IFN-γ was estimated by real-time polymerase chain reaction. IL-17 protein expression was determined by immunohistochemistry. Mast cells were labeled with tryptase to evaluate cell appearance and count. IL-6, 10 and 17A, and iNOS mRNA levels as well as the number of mast cells infiltrating the bladder mucosa were significantly increased in patients with bladder pain syndrome type 3C compared to healthy controls. TNF-α, TGF-β and IFN-γ mRNA levels were similar in patients and controls. IL-17A expression at the protein level was up-regulated and localized to inflammatory cells and urothelium in patients with bladder pain syndrome type 3C. Patients with bladder pain syndrome/interstitial cystitis had increased mRNA levels of IL-17A, 10 and 6, and iNOS. IL-17A might be important in the inflammatory process. To our knowledge the increase in IL-17A is a novel finding that may have new treatment implications. Copyright © 2014 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  10. Implantation of cultured thymic fragments in patients with acquired immunodeficiency syndrome

    NARCIS (Netherlands)

    Danner, S. A.; Schuurman, H. J.; Lange, J. M.; Gmelig Meyling, F. H.; Schellekens, P. T.; Huber, J.; Kater, L.

    1986-01-01

    Cultured thymic fragments were implanted in one patient with acquired immunodeficiency syndrome (AIDS)-related complex (ARC) and in eight AIDS patients with opportunistic infections (OIs, four patients), Kaposi's sarcoma (KS, two patients), or both (two patients). Thereafter, objective clinical

  11. Sugammadex Use in a Patient with Wolff-Parkinson-White (WPW) Syndrome.

    Science.gov (United States)

    Şahin, Sevtap Hekimoğlu; Öztekin, İlhan; Kuzucuoğlu, Aytuna; Aslanoğlu, Ayça

    2015-07-01

    Wolff-Parkinson-White (WPW) syndrome is a disease associated with episodes of supraventricular tachycardia and ventricular pre-excitation or atrial fibrillation. WPW is characterized by an aberrant electrical conduction pathway between atria and ventricles. The major anesthetic problem connected with WPW syndrome is the risk of tachyarrhythmias due to accessory pathway. Therefore, it has been proposed that the aim of anesthetic management should be the avoidance of tachyarrhythmia and sympathetic stimulation. Sugammadex was administered as a neuromuscular reversal agent in this case. To our knowledge, this is the first case report of sugammadex use in a patient with WPW. This report presents a case of general anesthesia management in a patient with WPW syndrome. We think that it is appropriate to use sugammadex to reverse rocuronium for the prevention of sudden hemodynamic changes in patients with WPW who underwent general anesthesia.

  12. Effect of Radiofrequency Catheter Ablation on Quality of Life in Patients with Wolff-Parkinson-White Syndrome

    Directory of Open Access Journals (Sweden)

    Shokhrukh Erkaboev

    2015-09-01

    Full Text Available Wolff-Parkinson-White (WPW syndrome is one of several disorders of the conduction system of the heart that are commonly referred to as pre-excitation syndromes. As the syndrome significantly reduces the patients’ quality of life (QoL, the purpose of the current study was to compare QoL scores in patients with WPW syndrome before and after a radiofrequency catheter ablation (RFA procedure. To assess the patients’ QoL, the MOS 36-Item Short-Form Health Survey was used. Immediate and long-term outcomes of radiofrequency catheter ablation were analyzed in 60 patients diagnosed with WPW syndrome, 41(68.3% men and 19(31.7% women. As compared with the controls (28 apparently healthy persons, patients with WPW syndrome before RFA experienced significant reduction in both physical and mental health components. RFA was found effective in 93.3% of patients with WPW syndrome. At 3 months after RFA, patients showed significant improvement in both physical (13.5% and mental (17.2% health components; at 12 months, QoL parameters reached those of the controls.

  13. Evaluation of conjunctival bacterial flora in patients with Stevens-Johnson Syndrome

    Directory of Open Access Journals (Sweden)

    Luciana Frizon

    2014-03-01

    Full Text Available OBJECTIVE: To determine the conjunctival bacterial flora present in patients with Stevens-Johnson syndrome. METHODS: A prospective study of the conjunctival bacterial flora was performed in 41 eyes of 22 patients with Stevens-Johnson syndrome. The information gathered included the patient's sex and age, the duration of disease, the cause of Stevens-Johnson syndrome, and treatments. Scrapings of the inferior conjunctival fornix were performed in both eyes. Fourteen days before scraping, the patients were asked to interrupt all topical medication and start using 0.5% nonpreserved methylcellulose. The microbiological evaluation included microorganism identification and determination of antibiotic sensitivity. RESULTS: Of 22 patients (41 eyes, 14 (64% were females, and eight (36% were males. The mean age was 33.2 years, and the mean duration of disease was 15.6 years. Visual acuity ranged from light perception to 20/25 (1.57 logMar. The treatment received by most patients consisted of tear substitutes, topical antibiotics, and contact lenses. Bacterial identification was positive in 39 eyes (95% and negative in two eyes (5%. Gram-positive cocci accounted for 55.5% of the microorganisms, whereas gram-positive bacilli and gram-negative bacilli accounted for 19% and 25.5%, respectively. Half of the patients (54% had multiple bacterial species in their flora, and only one bacterial species was identified in the other half. Resistant bacteria were isolated from four eyes. The antibiotic sensitivity results for the Streptococcus group showed the lowest sensitivity and the highest microbial resistance identified. CONCLUSION: Patients with Stevens-Johnson syndrome have a diverse conjunctival flora that includes many pathogenic species.

  14. Assessment of risk to aquatic biota from elevated salinity -- a case study from the Hunter River, Australia.

    Science.gov (United States)

    Muschal, Monika

    2006-05-01

    An ecological risk assessment was performed on salinity levels of the Hunter River and its tributaries to respond to concerns that high salinity may be damaging aquatic ecosystems. Probabilistic techniques were used to assess likelihood and consequence, and hence the risk to aquatic biota from salinity. Continuous electrical conductivity distributions were used to describe the likelihood that high salinity would occur (exposure dataset) and toxicity values were compiled from the limited literature sources available to describe the consequence of high salinity (effects dataset). The assessment was preliminary in the sense that it modelled risk on the basis of existing data and did not undertake site-specific toxicity testing. Some sections of the Hunter River catchment have geologies that are saline because of their marine origins. Catchment development has increased the liberation rates of salts into surface-waters. Such modifying activities include coal-mining, power generation and land clearing. The aquatic biota of tributaries had a greater risk of impairment from high salinity than that of the Hunter River. High salinities in the tributaries were attributed to the combined factors of naturally saline geologies, increased liberation of salts due to modification of the landscape, and reduced dilution by flushing flows. A salinity guideline trigger value of 1100 mg L(-1) was recommended.

  15. Anaesthesia for a patient with Eisenmenger′s syndrome undergoing caesarean section

    Directory of Open Access Journals (Sweden)

    T Gurumurthy

    2012-01-01

    Full Text Available Eisenmenger′s syndrome is a cyanotic congenital heart disease that includes pulmonary hypertension with reversed or bidirectional shunt associated with septal defects or patent ductus arteriosus. The decreased systemic vascular resistance associated with pregnancy increases the degree of right to left shunting, thereby carrying substantial risk to both the mother and the foetus. The maternal mortality rate of pregnancy in the presence of Eisenmenger′s syndrome is reported to be as high as 30-70%. We present a case of a 22-year-old primigravida with Eisenmenger′s syndrome who gave birth at 37 weeks of gestation via caesarean section to a live female baby under general anaesthesia. On the third post-operative day, the patient developed tachycardia, tachypnoea, hypotension and decrease in oxygen saturation despite supplemental oxygen, clinically suspected pulmonary thromboembolism. We describe the anaesthetic management for caesarean section and its complications in a patient with Eisenmenger′s syndrome. Although pregnancy should be discouraged in women with Eisenmenger′s syndrome, it can be successful.

  16. Investigation of Demodex folliculorum frequency in patients with polycystic ovary syndrome*

    OpenAIRE

    Eser, Ayla; Erpolat, Seval; Kaygusuz, Ikbal; Balci, Hatice; Kosus, Aydin

    2017-01-01

    Abstract: Background: Background: Demodex mites are acari that reside in the pilosebaceous unit of the skin and have been associated with skin disorders. Objective: The objective of this study was to investigate the prevalence of Demodex folliculorum (D. folliculorum) mites in polycystic ovary syndrome patients as well as to examine the relationship between Demodex infestation and the presence of acne and oily or dry skin types in polycystic ovary syndrome patients. Methods: 41 polycystic ...

  17. Pituitary size in patients with Laron syndrome (primary GH insensitivity).

    Science.gov (United States)

    Kornreich, Liora; Horev, Gadi; Schwarz, Michael; Karmazyn, Boaz; Laron, Zvi

    2003-03-01

    The purpose of the present study was to investigate whether lifelong secretion of high levels of GH, characteristic of Laron syndrome, leads to an increase in the size of the pituitary gland. Eleven patients (six females, five males) with Laron syndrome underwent magnetic resonance imaging of the pituitary region with a system operating at 0.5 T. There were nine adults aged 36-68 Years and two children, a 4-Year-old boy and a 9-Year-old girl. The latter patient had been treated with IGF-I (150-180 mg/kg per day) since the age of 3 Years; all the other patients were untreated. The height of the adenohypophysis was measured on the sagittal images and compared with reference values for age and sex. The height of the adenohypophysis was within the normal range for age and gender in all patients, except for one male, who had a small gland. No congenital anomalies of the pituitary-hypothalamic region were detected. Despite the lifelong high levels of GH, no pituitary hypertrophy was detected. The anatomy of the pituitary-hypothalamic region in Laron syndrome is normal.

  18. Understanding Gut Fermentation Syndrome in the Psychiatric Evaluation of Patients with Suspected Alcohol Use Disorder

    Science.gov (United States)

    2017-10-18

    Fermentation Syndrome in the Psychiatric Evaluation of Patients with Suspected Alcohol Use Disorder Sb. GRANT NUMBER Sc. PROGRAM ELEMENT NUMBER 6...by ANSI Std. Z39.18 Adobe Professional 7. 0 Introduction Gut Fermentation Syndrome, also known as auto- brewery syndrome, is a phenomenon not well...patient stated abstinence from alcohol use and that Gut Fermentation Syndrome was the cause of continually elevated blood alcohol levels. We will

  19. The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

    DEFF Research Database (Denmark)

    Marcos, Séverine; Sarfati, Julie; Leroy, Chrystel

    2014-01-01

    CONTEXT: Mutations in CHD7, a gene previously implicated in CHARGE (coloboma, heart defect, choanal atresia, retardation of growth and/or development, genital hypoplasia, ear anomalies) syndrome, have been reported in patients presenting with Kallmann syndrome (KS) or congenital hypogonadotropic...... hypogonadism (CHH). Most mutations causing CHARGE syndrome result in premature stop codons and occur de novo, but the proportion of truncating vs nontruncating mutations in KS and CHH patients is still unknown. OBJECTIVE: The objective of the study was to determine the nature, prevalence, mode of transmission......, and clinical spectrum of CHD7 mutations in a large series of patients. DESIGN: We studied 209 KS and 94 CHH patients. These patients had not been diagnosed with CHARGE syndrome according to the current criteria. We searched for mutations in 16 KS and CHH genes including CHD7. RESULTS: We found presumably...

  20. Anaplerosis in Complex Treatment of Patients with Diabetic Foot Syndrome

    Directory of Open Access Journals (Sweden)

    B.G. Bezrodny

    2015-05-01

    Full Text Available The article describes the improvement of anaplerosis in patients with diabetic foot syndrome using skin flaps on vascular pedicle of the perforating vessels. The study involved patients with type 2 diabetes mellitus complicated with diabetic foot syndrome of neuroischemic form and chronic wounds of the lower extremities that do not heal for more than 21 days from the date of occurrence. The wounds were cleaned with ultrasonic cavitation. There was applied bandage with sorption antibacterial remedy base on nanodispersed silicon dioxide. There was applied a drainage vacuum bandage on a wound on the third day (VAC therapy. The flap is forming fitting to the size and configuration of a wound on a foot. Fourteen patients (93 % in the basic group were found to have survived flaps. Long-term follow up in 6 months demonstrated full maintenance of supporting function and good survived skin graft, absence of foot ulcers. In a control group 7 patients had recurrent foot ulcer. Improved techniques of autodermoplasty in patients with diabetic foot syndrome include glycemia control, preparation of a wound using vacuum apparatus bandage. Usage of split-skin graft combined with vacuum apparatus bandage allows close acute and chronic wounds effectively, maintain supporting function of an extremity, decrease in-hospital staying, and improve quality of patient’s life. Adequate foot wound closure prevents high-level amputation of low extremities in diabetic patients.

  1. The effect of metabolic syndrome components on exercise performance in patients with intermittent claudication.

    Science.gov (United States)

    Gardner, Andrew W; Montgomery, Polly S

    2008-06-01

    To determine the effect of metabolic syndrome components on intermittent claudication, physical function, health-related quality of life, and peripheral circulation in patients with peripheral arterial disease (PAD), and to identify the metabolic syndrome components most predictive of each outcome measure. Patients limited by intermittent claudication with three (n = 48), four (n = 45), or five (n = 40) components of metabolic syndrome were studied. Patients were assessed on PAD-specific measures consisting of ankle-brachial index (ABI), initial claudication distance, absolute claudication distance, physical function measures, health-related quality of life, and calf blood flow and transcutaneous oxygen tension responses after 3 minutes of vascular occlusion. Initial claudication distance (mean +/- SD) progressively declined (P = .019) in those with three (203 +/- 167 m), four (124 +/- 77 m), and five (78 +/- 57 m) metabolic syndrome components, and absolute claudication distance progressively declined (P = .036) in these groups as well (414 +/- 224 m vs 323 +/- 153 m vs 249 +/- 152 m, respectively). Furthermore, compared with patients with only three components of metabolic syndrome, those with all five components had impaired values (P obesity was the predictor (P fasting glucose was the predictor (P intermittent claudication, physical function, health-related quality of life, and peripheral circulation. Abdominal obesity and elevated fasting glucose are the metabolic syndrome components that are most predictive of these outcome measures. Aggressively treating these metabolic syndrome components may be particularly important in managing symptoms and long-term prognosis of PAD patients.

  2. Sweet syndrome in patients with and without malignancy: A retrospective analysis of 83 patients from a tertiary academic referral center.

    Science.gov (United States)

    Nelson, Caroline A; Noe, Megan H; McMahon, Christine M; Gowda, Asha; Wu, Benedict; Ashchyan, Hovik J; Perl, Alexander E; James, William D; Micheletti, Robert G; Rosenbach, Misha

    2018-02-01

    Sweet syndrome is a neutrophilic dermatosis that may be categorized into classic, malignancy-associated, and drug-induced subtypes. Few studies have systematically analyzed this rare disorder. To describe the clinicopathologic characteristics and treatment of Sweet syndrome and identify characteristics associated with concurrent malignancy. We retrospectively reviewed patients with Sweet syndrome at the University of Pennsylvania from 2005 to 2015. We identified 83 patients (mean age, 57 years; 51% male) with Sweet syndrome: 30% with the classic form, 44% with the malignancy-associated form, 24% with the drug-induced form in the setting of malignancy, and 2% with the drug-induced form. Acute myeloid leukemia was the most common malignancy (in 24 of 83 patients [29%]). Filgrastim was the most common medication (used in 8 of 83 patients [10%]). Leukopenia (P Sweet syndrome, dermatologists should be aware of the potential association of leukopenia, anemia, thrombocytopenia, absence of arthralgia, and histiocytoid or subcutaneous histopathology with malignancy. Copyright © 2017 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  3. Serum Progranulin Levels in Type 2 Diabetic Patients with Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Shafaei Azam

    2016-12-01

    Full Text Available Introduction. The role of progranulin in individuals with metabolic syndrome is not exactly clear.We aimed to assess the serum level of progranulin in type 2 diabetic patients with and without metabolic syndrome and compare them with healthy controls.

  4. Indice de Indices en la Biblioteca de Hunter College para el Estudiante Hispano.

    Science.gov (United States)

    Talero Bielsa, Alberto; And Others

    Designed for Spanish-speaking students of Hunter College of the City University of New York, this guide explains the use of 70 English-language indexes found in the college library. The explanations are given in Spanish in order to simplify the process of library research for students who are not completely comfortable with English. Each index is…

  5. Mortality in Patients with Endogenous Cushing's Syndrome.

    Science.gov (United States)

    Javanmard, Pedram; Duan, Daisy; Geer, Eliza B

    2018-06-01

    Cushing's syndrome is associated with increased morbidity and mortality. Cardiovascular events, sepsis, and thromboembolism are the leading causes of mortality. Patient's with Cushing's due to a pituitary adenoma and those with Cushing's due to benign adrenal adenoma have relatively good survival outcomes often mirroring that of the general population. Persistent or recurrent disease is associated with high mortality risk. Ectopic Cushing's syndrome and Cushing's due to adrenocortical carcinoma confer the highest mortality risk among Cushing's etiologies. Prompt diagnosis and treatment, and specific monitoring for and treatment of associated comorbidities are essential to decrease the burden of mortality from Cushing's. Copyright © 2018 Elsevier Inc. All rights reserved.

  6. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

    Science.gov (United States)

    Krieger, Michael; Roos, Andreas; Stendel, Claudia; Claeys, Kristl G; Sonmez, Fatma Mujgan; Baudis, Michael; Bauer, Peter; Bornemann, Antje; de Goede, Christian; Dufke, Andreas; Finkel, Richard S; Goebel, Hans H; Häussler, Martin; Kingston, Helen; Kirschner, Janbernd; Medne, Livija; Muschke, Petra; Rivier, François; Rudnik-Schöneborn, Sabine; Spengler, Sabrina; Inzana, Francesca; Stanzial, Franco; Benedicenti, Francesco; Synofzik, Matthis; Lia Taratuto, Ana; Pirra, Laura; Tay, Stacey Kiat-Hong; Topaloglu, Haluk; Uyanik, Gökhan; Wand, Dorothea; Williams, Denise; Zerres, Klaus; Weis, Joachim; Senderek, Jan

    2013-12-01

    Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjögren syndrome. Here we describe the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy or combinations of at least two of these. We obtained a mutation detection rate of 60% (15/25) among patients with the characteristic Marinesco-Sjögren syndrome triad (ataxia, cataracts, myopathy) whereas the detection rate in the group of patients with more variable phenotypic presentation was below 3% (1/37). We report 16 unrelated families with a total of 19 different SIL1 mutations. Among these mutations are 15 previously unreported changes, including single- and multi-exon deletions. Based on data from our screening cohort and data compiled from the literature we found that SIL1 mutations are invariably associated with the combination of a cerebellar syndrome and chronic myopathy. Cataracts were observed in all patients beyond the age of 7 years, but might be missing in infants. Six patients with SIL1 mutations had no intellectual disability, extending the known wide range of cognitive capabilities in Marinesco-Sjögren syndrome to include normal intelligence. Modestly constant features were somatic growth retardation, skeletal abnormalities and pyramidal tract signs. Examination of mutant SIL1 expression in cultured patient lymphoblasts suggested that SIL1 mutations result in severely reduced SIL1 protein levels irrespective of the type and position of mutations. Our data broaden the SIL1 mutation spectrum and confirm that SIL1 is the major Marinesco-Sjögren syndrome gene. SIL1 patients usually present with the characteristic triad but cataracts might be

  7. Metabolic syndrome: frequency and gender differences at an out-patient clinic

    International Nuclear Information System (INIS)

    Jahan, F.; Qureshi, R.; Borhany, T.; Hamza, H.B.

    2007-01-01

    To determine the frequency of metabolic syndrome among patients attending an out-patient clinic of a teaching hospital and to compare the clinical features regarding metabolic syndrome among males and females. All adults, above 25 years, attending the clinics for an executive check-up and giving informed consent were included in the study. Data was collected through a structured questionnaire administered to those eligible to participate. Metabolic syndrome was defined according to ATP-III guidelines. There were 250 participants in this study. Mean age of study participants was 48.94 (SD10.62) years, while approximately two-thirds, 157 (62.8%), were male. Metabolic syndrome (those who had 3 or more risk factors) was present in 35.2% of adults. Fasting blood sugar level was raised in 36.4% of study participants while significant number of participants (78.8%) had a Body Mass Index (BMI) Z 25 (p = 0.02). Frequency of metabolic syndrome was significantly high in this study with preponderance of males and prevalence similar to that observed in developed countries. Majority of patients had obesity and high fasting blood sugar levels. Males demonstrated higher levels of triglycerides and low levels of High-density lipoprotein (HDL) compared to females while blood pressure reading was observed to be the same in both males and females. (author)

  8. Neuron- specific enolase level in patients with metabolic syndrome and its value forecasting acute stroke

    Directory of Open Access Journals (Sweden)

    Oral Ospanov

    2018-03-01

    Full Text Available Background Patients with metabolic syndrome are at a greater risk of experiencing a cerebrovascular event. Several studies show that patients with metabolic syndrome have asymptomatic ischemic brain injury. In this case, there is a need for rapid determination of asymptomatic brain lesions and prediction of acute stroke. Aims The aim of the study was to determine the neuron-specific enolase (NSE serum level in patients with metabolic syndrome and the value of this level for forecasting acute stroke. Methods The study used the following information to determine metabolic syndrome: waist circumference, total cholesterol, triglycerides, high-density lipoprotein cholesterol, blood pressure, and blood glucose. Doppler sonography mapping of the brachiocephalic trunk was held to determine the percentage of the carotid artery stenosis. To determine asymptomatic ischemic brain injury, the NSE serum marker was measured. Statistical processing of the measurements was performed using the H test and the Mann–Whitney test. The possible link between MS and NSE were determined by logistic regression analysis. Mathematical modeling was performed using logistic regression. Results There are statistically significant differences in NSE concentrations in groups with metabolic syndrome and ischemic stroke patients. This assertion is confirmed by logistic regression analysis, which revealed the existence of a relationship between metabolic syndrome and increased concentration of NSE. Conclusion Patients with metabolic syndrome have an increased concentration of NSE. This indicates the presence of asymptomatic ischemic neuronal damage. A prognostic model for determining the probability that patients with metabolic syndrome will have an acute stroke was developed.

  9. Relationship between two blood stasis syndromes and inflammatory factors in patients with acute coronary syndrome.

    Science.gov (United States)

    Ma, Cai-Yun; Liu, Jing-Hua; Liu, Jian-Xun; Shi, Da-Zhuo; Xu, Zhen-Ye; Wang, Shao-Ping; Jia, Min; Zhao, Fu-Hai; Jiang, Yue-Rong; Ma, Qin; Peng, Hong-Yu; Lu, Yuan; Zheng, Ze; Ren, Feng-Xue

    2017-11-01

    To investigate the relationship between inflammatory factors and two Chinese medicine (CM) syndrome types of qi stagnation and blood stasis (QSBS) and qi deficiency and blood stasis (QDBS) in patients with acute coronary syndrome (ACS). Sixty subjects with ACS, whose pathogenesis changes belongs to qi disturbance blood stasis syndrome, were divided into 2 groups: 30 in the QSBS group and 30 in the QDBS group. The comparative analysis on them was carried out through comparing general information, coronary angiography and inflammatory factors including intracellular adhesion molecule-1 (ICAM-1), chitinase-3-like protein 1 (YKL-40) and lipoprotein-associated phospholipase A2 (Lp-PLA2). Compared with the QSBS group, Lp-PLA2 and YKL-40 levels in the QDBS group showed no-significant difference (P>0.05); ICAM-1 was significantly higher in the QDBS group than in the QSBS group in the pathological processes of qi disturbance and blood stasis syndrome of ACS (Psyndrome typing of QSBS and QDBS, which provides a research direction for standardization research of CM syndrome types.

  10. High frequency of chronic bacterial and non-inflammatory prostatitis in infertile patients with prostatitis syndrome plus irritable bowel syndrome.

    OpenAIRE

    Enzo Vicari; Sandro La Vignera; Domenico Arcoria; Rosita Condorelli; Lucia O Vicari; Roberto Castiglione; Andrea Mangiameli; Aldo E Calogero

    2011-01-01

    Background Although prostatitis syndrome (PS) and irritable bowel syndrome (IBS) are common disorders, information on the prevalence of IBS in infertile patients with PS is relatively scanty. Therefore, this study was undertaken to estimate the frequency of PS and IBS and to evaluate the prevalence of the various diagnostic categories of prostatitis. Methodology/Principal Findings This study enrolled 152 patients with PS, diagnosed by the NIH-Chronic Prostatitis Symptom Index (NIH-CPSI) in an...

  11. Imaging manifestations and its clinical significance in patients with synovitis acne pustulosis hyperostosis osteomyelitis syndrome

    International Nuclear Information System (INIS)

    Yu Wei; Lin Qiang; Yao Jinpeng; Chang Yinjuan; Zhou Xiaohong

    2012-01-01

    Objective: To describe the clinical and imaging manifestations of patients with synovitis acne pustulosis hyperostosis osteomyelitis (SAPHO) syndrome, and to analyze the diagnostic importance of different clinical and imaging manifestations for SAPHO syndrome. Methods: Seventeen patients (7 males and 10 females) with SAPHO syndrome were recruited in this study. Age ranged from 36 to 67 years with a mean age of (48 ± 8) years. All patients fulfilled the diagnostic criteria of Benhamou. Serum HLA B27 antigen records were reviewed for all patients. Imaging data of the abnormal bone sites were collected by conventional radiograph in all patients, CT in 13 patients as well as MR in 3 patients. Average time to take for a definite diagnosis of the syndrome was 3.7 years (ranged from O.5 to 13 years). Results: Serum HLA B27 antigen was positive in all patients. Both skin and bone abnormalities were found in all patients. Ten patients had skin palmoplantar pustulosis and two patients had acne. Involving sites of bone and joints include sacroiliac joints, anterior chest and limbs. Sacroiliac joints were asymmetrically involved with imaging features in all patients. Eight patients exhibited anterior chest wall involvement. Five patients had osteomyelitis at limbs. For all images of 17 patients, CT was superior to conventional radiography in detecting abnormal changes of bone erosion and soft tissue swelling. MR imaging was able to depict edema changes that was not detectable by CT and radiography. Conclusion: SAPHO syndrome is a rare disease, but for patients with skin and bone-joint abnormalities, especially with skin palmoplantar pustulosis, acne as well as with imaging features at the sacroiliac joint and anterior chest wall, SAPHO syndrome should be taken into a diagnostic consideration. (authors)

  12. Electrophysiological correlates of semantic memory retrieval in Gulf War Syndrome 2 patients.

    Science.gov (United States)

    Tillman, Gail D; Calley, Clifford S; Buhl, Virginia I; Chiang, Hsueh-Sheng; Haley, Robert W; Hart, John; Kraut, Michael A

    2017-02-15

    Gulf War veterans meeting criteria for Haley Syndrome 2 of Gulf War illness endorse a particular constellation of symptoms that include difficulty with processing information, word-finding, and confusion. To explore the neural basis of their word-finding difficulty, we assessed event-related potentials (ERPs) associated with semantic memory retrieval in 22 veterans classified as Syndrome 2 and 28 veterans who served as controls. We recorded EEGs while subjects judged whether pairs of words that represented object features combined to elicit a retrieval of an object memory or no retrieval. Syndrome 2 subjects' responses were significantly slower, and those participants were less accurate than controls on the retrieval trials, but they performed similarly on the nonretrieval trials. Analysis of the ERPs revealed a difference between retrievals and nonretrievals that has previously been detected around 750ms at the left temporal region was present in both the Syndrome 2 patients and controls. However, the Syndrome 2 patients also showed an ERP difference between retrievals and nonretrievals at the midline parietal region that had a scalp voltage polarity opposite from that recorded at the left temporal area. We hypothesize that the similarities between task performance and ERP patterns in Syndrome 2 veterans and in patients with amnestic mild cognitive impairment reflect disordered thalamic cholinergic neural activity, possibly in the dorsomedial nucleus. Copyright © 2016 Elsevier B.V. All rights reserved.

  13. 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.

  14. Thyroid cancer in a patient with Lynch syndrome - case report and literature review.

    Science.gov (United States)

    Fazekas-Lavu, Monika; Parker, Andrew; Spigelman, Allan D; Scott, Rodney J; Epstein, Richard J; Jensen, Michael; Samaras, Katherine

    2017-01-01

    Lynch syndrome describes a familial cancer syndrome comprising germline mutations in one of four DNA mismatch repair genes, MLH1 , MSH2 , MSH6 , and PMS2 and is characterized by colorectal, endometrial, and other epithelial malignancies. Thyroid cancer is not usually considered to be part of the constellation of Lynch syndrome cancers nor have Lynch syndrome tumor gene mutations been reported in thyroid malignancies. This study reports a woman with Lynch syndrome (colonic cancer and a DNA mismatch repair mutation in the MSH2 gene) with a synchronous papillary thyroid cancer. Six years later, she developed metachronous breast cancer. Metastatic bone disease developed after 3 years, and the disease burden was due to both breast and thyroid diseases. Despite multiple interventions for both metastatic breast and thyroid diseases, the patient's metastatic burden progressed and she died of leptomeningeal metastatic disease. Two prior case reports suggested thyroid cancer may be an extraintestinal malignancy of the Lynch syndrome cancer group. Hence, this study examined the genetic relationship between the patient's known Lynch syndrome and her thyroid cancer. The thyroid cancer tissue showed normal expression of MSH2 , suggesting that the tumor was not due to the oncogenic mutation of Lynch syndrome, and molecular analysis confirmed BRAF V600E mutation. Although in this case the thyroid cancer was sporadic, it raises the importance of considering cancer genetics in familial cancer syndromes when other cancers do not fit the criteria of the syndrome. Careful documentation of other malignancies in patients with thyroid cancer and their families would assist in better understanding of any potential association. Appropriate genetic testing will clarify whether a common pathogenic mechanism links seemingly unrelated cancers.

  15. West syndrome in a patient with Schinzel-Giedion syndrome.

    Science.gov (United States)

    Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

    2015-06-01

    Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. © The Author(s) 2014.

  16. Near-source surface seismic measurements for the NPE, NPE Calibration, Hunter`s Trophy, and Mineral Quarry

    Energy Technology Data Exchange (ETDEWEB)

    Reinke, R.E.; Leverette, J.A. [Field Command Defense Nuclear Agency, Kirtland AFB, NM (United States); Stump, B.W. [Los Alamos National Laboratory, NM (United States)] [and others

    1994-12-31

    An extensive seismic network was deployed on the surface of Rainier Mesa for both the Non-Proliferation Experiment (NPE) Calibration shot as well as the full scale NPE event. This network was very similar to previous deployments for the nuclear events MISTY ECHO, MINERAL QUARRY, and HUNTERS TROPHY. For the full scale NPE event three-component accelerometers and seismometers were fielded at 32 sites across the mesa. A slightly smaller network with 28 stations was in operation for the 300 pound NPE calibration event. The mesa top array included both accelerometers and seismometers. The accelerometers were used to obtain data from the main NPE event while the seismometers with their higher sensitivity were used to record the 300 pound cal shot and several hundred after events from the NPE. Large spatial variations in ground motion are evident in both the full mesa data set as well as a small (80 m on a side) aperture, 9-element triangular array. This paper summarizes the data and discusses wave propagation effects. A companion paper presents a comparative source analysis.

  17. Cauda equina syndrome in patients undergoing manipulation of the lumbar spine

    NARCIS (Netherlands)

    Haldeman, S.; Rubinstein, S M

    1992-01-01

    Cauda equina syndrome has been implicated as a potential complication of spinal manipulation. A review of the literature from 1911 to 1989 revealed ten reported cases of cauda equina syndrome in patients undergoing manipulation without anesthesia. This article presents three new cases where a

  18. Idiopathic Nephrotic Syndrome in Childhood: A Retrospective Analysis of Two Hundred and Eighty Nine Patients

    Directory of Open Access Journals (Sweden)

    Kenan Yılmaz

    2017-12-01

    Full Text Available Aim: In this study, we aimed to evaluate the demographic and histopathological characteristics and response to medications in children with idiopathic nephrotic syndrome in Turkey. Methods: We reviewed medical records of patients older than one year, who were newly diagnosed with nephrotic syndrome and had been followed for at least one year in our department between November 1994 and March, 2013. Results: A total of 289 children (169 boys were included in the study. Fifty theree patients (18.4% were with steroid-resistant nephrotic syndrome, 33 (11.4% with frequently relapsing nephrotic syndrome and 53 (18.4% were with steroid-dependent nephrotic syndrome. Cyclosporine A (CsA, cyclophosphamide, mycophenolate mofetil, levamisole, azathioprine, and rituximab were used as steroid-sparing agents in some patients. The number of patients who were responder to steroid and to CsA was similar. Majority of patients with steroid-resistant nephrotic syndrome were also resistant to mycophenolate mofetil and CsA. Conclusion: There was a high prevalence of minimal change disease based on kidney biopsy especially in boys younger than six years of age and response to steroid and CsA was almost similar.

  19. The Results of Corneal Hydrops Treatment in Patients with Down Syndrome

    Directory of Open Access Journals (Sweden)

    V. K. Surkova

    2018-01-01

    Full Text Available The article describes the clinical cases of acute keratoconus in three patients with Down syndrome who underwent penetrating  keratoplasty. Acute keratoconus were diagnosed in patients by examination of medical history, biomicroscopy, corneal topography,optical coherence tomography. Acute keratoconus occurs suddenly due to the rupture of Descemet’s membrane in the zone of itsstretching, when chamber moisture seeps into the thickness of the stroma, causing its swelling and perforation. If untreated, theprocess continues for 3–5 months. Most researchers recommend keratoplasty during the cold period of the disease. However, withthe threat of perforation require urgent surgical intervention. There are two effective methods of surgical treatment: epikeratophakiaand penetrating keratoplasty. Patients underwent penetrating keratoplasty. The preference for this method was given in connectionwith the following factors: young age patients (under 40 years, relatively healthy transparent peripheral zone of the cornea, whichwas observed in our patients, genetically determined diseases — Down syndrome, the threat of corneal perforation in the centre, apenchant for rubbing his eye, low vision other eye and the desire to obtain speedy optical effect along with the treatment. All patientsafter penetrating keratoplasty had improvement of visual acuity with observation periods up to 1 year. Due to the relatively highincidence of keratoconus in patients with Down syndrome should focus the attention of ophthalmologists. Thus, difficulties in thediagnosis of ophthalmic pathology in patients with concomitant Down syndrome can cause errors in verification of diagnosis and hencewrong treatment selection. In case of hydrops of the cornea penetrating keratoplasty is the choice treatment and contributes to the preservation of the eye and visual functions.

  20. Aortic dilatation in patients with Turner's syndrome without structural cardiac anomaly.

    Science.gov (United States)

    Alami Laroussi, Nassiba; Dahdah, Nagib; Dallaire, Frédéric; Thérien, Johanne; Fournier, Anne

    2016-03-01

    Dilatation of the ascending aorta is described in Turner's syndrome with variable prevalence (6.8-32%). Reported series typically include patients with associated cardiac anomalies. To characterise the prevalence, age of onset, and the progress of dilatation of the ascending aorta in Turner's syndrome patients free of structural cardiac anomalies. Potential risk factors such as karyotype and growth hormone therapy were analysed for correlation with aortic dilatation. We carried out a retrospective study with data collected from medical records and echocardiography studies. Patients with Tuner's syndrome followed-up between 1992 and 2010 with at least two echocardiography studies were eligible. Patients with previous cardiac surgery or under anti-hypertensive medication were excluded. Ascending aorta diameter measurements were adjusted for body surface area, and dilatation was defined as Z-score>2. The study population consisted of 44 patients, aged 11.9±7.4 years at the first echocardiogram and 17.9±7.3 years at the last follow-up, with a follow-up duration of 6.0±3.7 years. A total of 13 (29.5%) patients exhibited aortic dilatation during follow-up, suggesting an actuarial estimate of the freedom from aortic dilatation dropping from 86 to 70% and then to 37% at 10, 20, and 30 years of age, respectively. There was no statistically significant impact of karyotype or growth hormone therapy on aortic Z-score progression. The prevalence of dilatation of the ascending aorta in Turner's syndrome patients free of structural aortic anomalies is comparable with published data with associated lesions. Growth hormone therapy and karyotype had no significant impact; however, longitudinal follow-up is warranted.

  1. Cardiometabolic risk in patients with polycystic ovary syndrome.

    Science.gov (United States)

    Ozegowska, Katarzyna; Pawelczyk, Leszek

    2015-11-01

    Polycystic ovary syndrome (PCOS) is a common endocrinopathy in premenopausal women, associated with risk of metabolic syndrome and cardiovascular disease (CVD). CVD risk evaluation is recommended for PCOS patients. This study aimed to evaluate the risk of CVD in PCOS patients and to identify the best predictors for metabolic and cardiovascular disturbances. The study included 169 PCOS patients and 110 healthy women in reproductive age. We estimated cardiovascular risk according to American Heart Association and Androgen Excess-PCOS Society criteria that classified patients as metabolically unhealthy (MU) or metabolically healthy (MH). The PCOS group had significantly higher body mass index (BMI), waist circumference, and waist-to-hip ratio (P PCOS patients (8.9%). No obesity was observed in the control group. Waist circumference ≥ 80 cm was presented in 44% of PCOS patients in comparison to 14.5% of control participants (P PCOS population (P PCOS-MH group had the highest high-density lipoprotein (HDL) levels. ROC curves were used to indicate parameters diagnosing metabolically unhealthy women and revealed that WC, BMI and HC seem to be the strongest predictors of metabolic disturbances in PCOS but in the healthy population in reproductive age biochemical findings such as low HDL or increased fasting glycemia presented stronger predictive value than patients' anthropometric features. Physicians need to remember to adopt different diagnostic approach while seeking metabolic complications in these different groups of women.

  2. Sugammadex Use in a Patient with Wolff-Parkinson-White (WPW Syndrome

    Directory of Open Access Journals (Sweden)

    Sevtap Hekimoğlu Şahin

    2015-09-01

    Full Text Available Background: Wolff-Parkinson-White (WPW syndrome is a disease associated with episodes of supraventricular tachycardia and ventricular pre-excitation or atrial fibrillation. WPW is characterized by an aberrant electrical conduction pathway between atria and ventricles. Case Report: The major anesthetic problem connected with WPW syndrome is the risk of tachyarrhythmias due to accessory pathway. Therefore, it has been proposed that the aim of anesthetic management should be the avoidance of tachyarrhythmia and sympathetic stimulation. Sugammadex was administered as a neuromuscular reversal agent in this case. To our knowledge, this is the first case report of sugammadex use in a patient with WPW. This report presents a case of general anesthesia management in a patient with WPW syndrome. Conclusion: We think that it is appropriate to use sugammadex to reverse rocuronium for the prevention of sudden hemodynamic changes in patients with WPW who underwent general anesthesia.

  3. HPLC-MS-Based Metabonomics Reveals Disordered Lipid Metabolism in Patients with Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Xinjie Zhao

    2011-12-01

    Full Text Available Ultra-high performance liquid chromatography/ quadrupole time of flight mass spectrometry-based metabonomics platform was employed to profile the plasma metabolites of patients with metabolic syndrome and the healthy controls. Data analysis revealed lots of differential metabolites between the two groups, and most of them were identified as lipids. Several fatty acids and lysophosphatidylcholines were of higher plasma levels in the patient group, indicating the occurrence of insulin resistance and inflammation. The identified ether phospholipids were decreased in the patient group, reflecting the oxidative stress and some metabolic disorders. These identified metabolites can also be used to aid diagnosis of patients with metabolic syndrome. These results showed that metabonomics was a promising and powerful method to study metabolic syndrome.

  4. Do individual differences in use of cover habitat affect red deer`s (Cervus elaphus) probability of being shot by hunters?

    OpenAIRE

    Stamnes, Inga

    2014-01-01

    The purpose of this study was to test if red deer (Cervus elaphus) habitat use affects their risk of being shot by hunters. I compared habitat use of 20 GPS-marked red deer that survived the hunting season with 20 individuals that were shot. I predicted that shot red deer used open areas within forested habitats with a better visibility for hunters than surviving red deer. I also predicted that the use of less risky habitat is costly in terms of foraging opportunity, with shot animals using b...

  5. Clinical characteristics of three patients with UVs syndrome, a photosensitive disorder with defective DNA repair

    International Nuclear Information System (INIS)

    Itoh, T.; Yamaizumi, M.; Hiro-oka, M.; Matsui, T.; Matsuno, M.; Ono, T.; Ichihashi, M.

    1996-01-01

    Recently, we established a new category of photosensitive disorder termed UVsup(s) syndrome. Cells from patients with UVsup(s) syndrome have a similar UV sensitivity as xeroderma pigmentosum (XP) cells, but have a normal level of unscheduled DNA synthesis (UDS) unlike XP. UVsup(s) syndrome is distinct from Cockayne syndrome (CS) or XP including XP variant (XP-V) as determined by studies of genetic factors using cell fusion, microinjection, and postreplication repair assays. In this study, we identified three japanese patients with UVsup(s) syndrome: an 11-year-old girl, a 17 year old male, and an 8-year-old boy. The first two patients were siblings, while the third was a case from a different family. All of these patients exhibited acute recurrent sunburn. Common clinical manifestations of the patients were slight erythema and dryness, a number of freckles on sun-exposed areas, and slight telangiectasia only seen on the cheek and nose. Patient 3 showed a lowered minimal erythema dose between 280 and 300 nm. The patients' fibroblasts showed similar characteristics to those in CS, such as UV sensitivity, and a failure of RNA synthesis (RRS) after UV irradiation, despite a normal level of UDS. Thus, UVsup(s) syndrome is a new hereditary photosensitive disorder with clinical manifestations similar to a mild form of Xp but showing the cellular characteristics of CS. (Author)

  6. Clinical Profiles, Occurrence, and Management of Adolescent Patients with HAIR-AN Syndrome

    Directory of Open Access Journals (Sweden)

    Hatim A. Omar

    2004-01-01

    Full Text Available The syndrome of hyperandrogenism, insulin resistance, and acanthosis nigricans (HAIR-AN is a subphenotype of the polycystic ovary syndrome. It is one of the most common causes of menstrual problems, hyperandrogenic symptoms, and insulin resistance among young women. Review of clinical data in an outpatient adolescent clinic showed that of the 1,002 young women (ages 10—21 years attending the clinic over a 2-year period, 50 (5% were diagnosed with HAIR-AN syndrome. Mean age of the patients was 15.5, initial mean weight at diagnosis was 94.5 kg, and the mean BMI was 33.33 kg/m2. Patients were treated with a weight-stabilization and -reduction program, oral contraceptive pills, and in most cases metformin. Of the patients, 80% were compliant with the follow-up and treatment regimen, 60% maintained or reduced their weight, 95% had regular menstrual cycles, and in most patients, the acne and/or hirsutism were the same or better than at the start of treatment. We conclude that HAIR-AN syndrome is a common disease in young women and multifaceted, aggressive treatment appears to be effective in reducing the severity of symptoms and preventing further consequences.

  7. Factor V G1691A (Leiden is a major etiological factor in Egyptian Budd-Chiari syndrome patients

    Directory of Open Access Journals (Sweden)

    Tawhida Y. Abdel Ghaffar

    2011-12-01

    Full Text Available Objective: Budd-Chiari syndrome is a multifactorial disease in which several prothrombotic disorders may predispose patients to the development of thrombosis at this uncommon location (hepatic veins. The aim of this study was to determine the prevalence and characteristics of inherited thrombophilia in Egyptian Budd-Chiari syndrome patients.Materials and Methods: The study included 47 Budd-Chiari syndrome patients (20 children and 27 adults. Genotyping of Factor V G1691A (Leiden, prothrombin G20210A (PT, and methylenetetrahydrofolate reductase C677T were performed using real-time PCR and fluorescence melting curve detection analysis.Results: Factor V Leiden was observed in 29 patients (61.7%. It is the only factor that caused Budd-Chiari syndrome in 18 of the patients and in 5 of the patients with inferior vena cava involvement. Myeloproliferative disease was noted in 12 (25.5% patients, antiphospholipid syndrome in 5 (10.6%, and Behcet’s disease in 3 (6.4%. Interestingly, 3 of the children with Budd-Chiari syndrome had lipid storage disease.Conclusion: Factor V Leiden was a major etiological factor in Egyptian Budd-Chiari syndrome patients, which may have been related to the high frequency of this mutation in the study region. Factor V Leiden was also a strong thrombophilic factor and the leading cause of inferior vena cava thrombosis in these patients. Lipid storage disease should be included as a risk factor for Budd-Chiari syndrome.

  8. Evidence for early hunters beneath the Great Lakes.

    Science.gov (United States)

    O'Shea, John M; Meadows, Guy A

    2009-06-23

    Scholars have hypothesized that the poorly understood and rarely encountered archaeological sites from the terminal Paleoindian and Archaic periods associated with the Lake Stanley low water stage (10,000-7,500 BP) are lost beneath the modern Great Lakes. Acoustic and video survey on the Alpena-Amberley ridge, a feature that would have been a dry land corridor crossing the Lake Huron basin during this time period, reveals the presence of a series of stone features that match, in form and location, structures used for caribou hunting in both prehistoric and ethnographic times. These results present evidence for early hunters on the Alpena-Amberley corridor, and raise the possibility that intact settlements and ancient landscapes are preserved beneath Lake Huron.

  9. HELICOBACTER PYLORI-ASSOCIATED INFLAMMATION IN PATIENTS WITH ACUTE CORONARY SYNDROME

    Directory of Open Access Journals (Sweden)

    O. N. Pavlov

    2014-07-01

    Full Text Available The aim – assessment of the prevalence of seropositivity to Helicobacter pylori infection and laboratory comparative study of the peripheralblood in patients depending on the course of coronary heart disease (CHD.Materials and methods. Observation of 100 patients with coronary artery disease and 40 control patients is presented. Investigation indicatorsof clinical blood tests, biochemical blood analysis and determination of immunoglobulin antibody titer against Helicobacter pylori.Results. In patients with coronary artery disease signs of systemic inflammation associated with the development of acute coronary syndrome are marked with increased antibody titers to infection Helicobacter pylori.Conclusion. A history of coronary artery disease in patients with Helicobacter pylori-associated gastroduodenal pathology should be considered as a factor that increases the likelihood of unstable coronary desease course. Detected in patients with coronary artery disease signs of systemic inflammation with an increase in titer of antibodies to Helicobacter pylori infection associated with development of acute coronary syndrome.

  10. CT findings in mucopolysaccharidoses

    International Nuclear Information System (INIS)

    Tsuchida, Tomio; Nemoto, Shigeru; Fujiwara, Kazue; Hayakawa, Isao; Nihei, Kenji.

    1981-01-01

    The CT findings for four patients with mucopolysaccharidosis were analyzed using a Delta scan-25 (Ohio Nuclear). In three cases of Hunter's syndrome (MPS IIA 13-year-old male, MPS IIB 12-year-old male, and 25-year-old male), a dilatation of the cortical sulci was observed. Moderate dilatations were also seen in the basal cistern, the quadrigeminal cistern, and the ambient cistern. In one case of Hunter's syndrome, a low-density area was observed in the bilateral tharamic regions. An irregular low-density area was also seen in the white matter in some cases. PVL was not apparent in any case. Marked ventricular dilations were observed in cases with mental retardation, for example, in one case of Hurler's syndrome (8-year-old male) and one case of MPS IIA. The circulation and absorbtion of CSF in cortical snbarachnoid spaces were supposed to be moderately retarded by metrizamide CT cisternography. (author)

  11. Central retinal artery occlusion in a patient with ANCA-negative Churg-Strauss syndrome

    Science.gov (United States)

    Kumano, Yuji; Yoshida, Noriko; Fukuyama, Satoru; Miyazaki, Masanori; Enaida, Hiroshi; Matsui, Takaaki

    2012-01-01

    Ocular involvement in Churg-Strauss syndrome is infrequent. We describe the case of a 54-year-old woman with eosinophilia and involvement of the respiratory tract, skin, and peripheral nervous system, fulfilling the American College of Rheumatology criteria for Churg-Strauss syndrome. The patient presented with acute, painless vision loss in her right eye. Central retinal artery occlusion (CRAO) without accompanying retinal vasculitis was diagnosed by angiographic findings and funduscopic findings of retinal whitening with a cherry-red spot. Although her antineutrophil cytoplasmic antibody (ANCA) status was negative, CRAO was thought to be an ocular manifestation of Churg-Strauss syndrome, and appropriate treatment was planned. She was treated with high-dose corticosteroids and anticoagulant therapy. Her macular edema improved, but visual recovery was poor. Specific therapy to alter inflammation, blood coagulation, and rheology reportedly plays an important role in ANCA-positive patients with Churg-Strauss syndrome who develop CRAO. Regardless of ANCA status, high-dose corticosteroids should be considered for CRAO in patients with Churg-Strauss syndrome, as discussed in this case. PMID:22927731

  12. Association Between Vitamin D Insufficiency and Metabolic Syndrome in Patients With Psychotic Disorders.

    Science.gov (United States)

    Yoo, Taeyoung; Choi, Wonsuk; Hong, Jin-Hee; Lee, Ju-Yeon; Kim, Jae-Min; Shin, Il-Seon; Yang, Soo Jin; Amminger, Paul; Berk, Michael; Yoon, Jin-Sang; Kim, Sung-Wan

    2018-04-01

    This study examined the association between vitamin D and metabolic syndrome in patients with psychotic disorders. The study enrolled 302 community-dwelling patients with psychotic disorders. Sociodemographic and clinical characteristics, including blood pressure, physical activity, and dietary habit were gathered. Laboratory examinations included vitamin D, lipid profile, fasting plasma glucose, HbA1c, liver function, and renal function. Vitamin D insufficiency was defined as vitamin D insufficiency were identified. Among the 302 participants, 236 patients (78.1%) had a vitamin D insufficiency and 97 (32.1%) had metabolic syndrome. Vitamin D insufficiency was significantly associated with the presence of metabolic syndrome (p=0.006) and hypertension (p=0.017). Significant increases in triglycerides and alanine transaminase were observed in the group with a vitamin D insufficiency (p=0.002 and 0.011, respectively). After adjusting for physical activity and dietary habit scores, vitamin D insufficiency remained significantly associated with metabolic syndrome and hypertension. Vitamin D insufficiency was associated with metabolic syndrome and was particularly associated with high blood pressure, although the nature, direction and implications of this association are unclear.

  13. Bone lesions in Chinese POEMS syndrome patients: imaging characteristics and clinical implications

    Directory of Open Access Journals (Sweden)

    Fengdan Wang

    2016-08-01

    Full Text Available Objective. Bone lesion is crucial for diagnosing and management of polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin change (POEMS syndrome, a rare plasma cell disorder. This study is to compare the effectiveness of X-ray skeletal survey (SS and computed tomography (CT for detecting bone lesions in Chinese POEMS syndrome patients, and to investigate the relationship between bone lesion features and serum markers. Methods. SS and chest/abdomen/pelvic CT images of 38 Chinese patients (26 males, 12 females, aged 21–70 years with POEMS syndrome recruited at our medical center between January 2013 and January 2015 were retrospectively analyzed. Bone lesions identified by CT were further categorized according to the size (10 mm and appearance (osteosclerotic, lytic, mixed. The percentage of plasma cells in bone marrow smears, type of immunoglobulin, platelet (Plt, and levels of serum bone metabolic markers and inflammatory factors including alkaline phosphatase (ALP, calcium, phosphate, parathyroid hormone (PTH, beta-isomerized C-telopeptide (β-CTx, vascular endothelial growth factor (VEGF, and interleukin (IL-6 levels were also recorded. Results. Of the 38 POEMS syndrome patients, the immunoglobulin heavy chain isotypes were IgA in 25 patients (65.8%; 25/38 and IgG in 13 patients (34.2%; 13/38, and the light chain isotypes were λ in 35 patients (92.1%; 35/38 and κ in 3 patients (7.9%; 3/38. There were 23 patients with thrombocytosis. More patients with bone lesions were detected by CT than by SS (97.4% vs. 86.8%. The most commonly affected location was the pelvis (89.5%, followed by the spine, clavicle/scapula/sternum/ribs, skull, and long bones. Of the 38 POEMS syndrome patients, 35 (94.6% had osteosclerotic and 32 (86.5% had mixed lesions. Osteosclerotic lesions were typically scattered, variable in size, and plaque-like, whereas mixed lesions were pouch-shaped or soup bubble-like with a clear sclerotic margin and were

  14. Risk of Hand Syndromes in Patients With Diabetes Mellitus

    Science.gov (United States)

    Chen, Lu-Hsuan; Li, Chung-Yi; Kuo, Li-Chieh; Wang, Liang-Yi; Kuo, Ken N.; Jou, I-Ming; Hou, Wen-Hsuan

    2015-01-01

    Abstract The aim of this study was to assess the overall and cause-specific incidences of diabetic hand syndromes (DHS) in patients with diabetes mellitus (DM) by using age and sex stratifications. The DM and control cohorts comprised 606,152 patients with DM and 609,970 age- and sex-matched subjects, respectively, who were followed up from 2000 to 2008. We estimated the incidence densities (IDs) of overall and cause-specific DHS, namely carpal tunnel syndrome (CTS), stenosing flexor tenosynovitis (SFT), limited joint mobility (LJM), and Dupuytren disease (DD), and calculated the hazard ratios (HRs) of DHS in relation to DM by using a Cox proportional hazards model with adjustment for potential confounders. Over a 9-year period, 51,207 patients with DM (8.45%) and 39,153 matched controls (6.42%) sought ambulatory care visits for various DHS, with an ID of 117.7 and 80.7 per 10,000 person-years, respectively. The highest cause-specific ID was observed for CTS, followed by SFT, LJM, and DD, regardless of the diabetic status. After adjustment for potential confounders, patients with DM had a significantly high HR of overall DHS (1.51, 95% confidence interval [CI] = 1.48–1.53). Men and women aged the highest HR (2.64, 95% CI = 2.15–3.24 and 2.99, 95% CI = 2.55–3.50, respectively). Cause-specific analyses revealed that DM was more strongly associated with SFT (HR = 1.90, 95% CI = 1.86–1.95) and DD (HR = 1.83, 95% CI = 1.39–2.39) than with CTS (HR = 1.31, 95% CI = 1.28–1.34) and LJM (HR = 1.24, 95% CI = 1.13–1.35). Men and younger patients with DM have the highest risk of DHS. Certain hand syndromes, such as SFT and DD, were more strongly associated with DM than with other syndromes and require the attention of clinicians. PMID:26469895

  15. High frequency of chronic bacterial and non-inflammatory prostatitis in infertile patients with prostatitis syndrome plus irritable bowel syndrome.

    Directory of Open Access Journals (Sweden)

    Enzo Vicari

    2011-04-01

    Full Text Available Although prostatitis syndrome (PS and irritable bowel syndrome (IBS are common disorders, information on the prevalence of IBS in infertile patients with PS is relatively scanty. Therefore, this study was undertaken to estimate the frequency of PS and IBS and to evaluate the prevalence of the various diagnostic categories of prostatitis.This study enrolled 152 patients with PS, diagnosed by the NIH-Chronic Prostatitis Symptom Index (NIH-CPSI in an andrological setting, and 204 patients with IBS, diagnosed according to the Rome III diagnostic criteria in a gastroenterological setting. The patients with PS were asked to fulfill the Rome III questionnaire for IBS, whereas patients with IBS were asked to complete the NIH-CPSI. The simultaneous presence of PS and IBS was observed in 30.2% and 31.8% of the patients screened by andrologists and gastroenterologists, respectively. Altogether, 111 patients had PS plus IBS (31.2%. They had a total NIH-CPSI and pain subscale scores significantly higher than patients with PS alone. Gastrointestinal symptoms in patients with PS plus IBS were similar to those reported by patients with IBS alone and significantly greater in patients with PS alone. Patients with PS plus IBS had a significantly higher frequency of chronic bacterial prostatitis (category II and lower of non-inflammatory prostatitis (category IIIB, compared to patients with PS alone. The frequency of inflammatory prostatitis (category IIIA resulted similar.Prostatitis syndromes and IBS are frequently associated in patients with PS- or IBS-related symptoms. These patients have an increased prevalence of chronic bacterial and non-inflammatory prostatitis.

  16. Renal failure in a patient with postpolio syndrome and a normal creatinine level.

    Science.gov (United States)

    Leming, Melissa K; Breyer, Michael J

    2012-01-01

    Patients with renal failure who are taking trimethoprim have an increased risk of developing hyperkalemia, which can cause muscle weakness. In patients with postpolio syndrome, a normal creatinine level could be abnormally high, renal failure is possible because of lack of creatinine production, and the muscle weakness from resultant hyperkalemia could be more severe because of their underlying condition. This abnormally high creatinine level has been termed from this point relative renal failure. The objective of the study was to review a case in which relative renal failure and hyperkalemia caused muscle weakness that manifested as shortness of breath and confusion with electrocardiographic changes. A dehydrated patient with relative renal failure and postpolio syndrome had taken trimethoprim-sulfamethoxazole that caused symptomatic hyperkalemia. The patient presented with muscle weakness, shortness of breath, and confusion, with her postpolio syndrome compounding the situation and likely making the muscle weakness more severe. A patient on trimethoprim with renal failure is at an increased risk of developing hyperkalemia. Patients with postpolio syndrome could have severe muscle weakness from the hyperkalemia and could have renal failure even with a normal creatinine level. This case report will remind treating physicians to evaluate such patients for hyperkalemia if they present with muscle weakness, especially if the patient has renal failure and is on trimethoprim. Copyright © 2012 Elsevier Inc. All rights reserved.

  17. Patients with carcinoid syndrome exhibit symptoms of aggressive impulse dysregulation

    NARCIS (Netherlands)

    Russo, S; Boon, JC; Kema, IP; Willemse, PHB; den Boer, JA; Korf, J; de Vries, EGE

    2004-01-01

    Objective: Carcinoid tumors can produce excessive amounts of biogenic amines, notably serotonin. We assessed psychiatric symptoms in carcinoid patients and peripheral metabolism of tryptophan, the precursor of serotonin. Methods: Twenty consecutive patients with carcinoid syndrome underwent a

  18. Interventional prevention of ovarian hyperstimulation syndrome in infertility patients with polycystic ovaries syndrome

    International Nuclear Information System (INIS)

    Liang Weixiang; Chen Zhiyi; Yuan Wenlin; Chen Xia; Cai Kuan; Wang Weiqun; Zhu Junlin

    2008-01-01

    Objective: To assess the efficacy of aspiration of small follicles(ASF) guided by trans-vaginal ultra- sound (TVS) in preventing moderate and severe ovarian hyperstimulation syndrome (OHSS) in women with polycystic ovaries syndrome (PCOS). Methods: ASF was undertaken by trans-vaginally during artificial cycles in 25 women with PCOS who had early signs of OHSS during the early period of the cycle according to the ovaries and follicles detected by TVS. Small follicles(≤ 12 mm in diameter) were aspirated at the early period of gonadotropin therapy according to the follicle testing, three or less excellent follicles were reserve. All the patients were followed up for symptoms and signs of OHSS. Results: None of the patients developed moderate or severe OHSS. Successful intrauterine pregnancy were found in 7 cases (28%). Conclusion: ASF after gonadotropin injections is of significance to prevent moderate and severe OHSS and obtain a higher pregnancy rate in susceptible patients with PCOS during the early period of the cycles. Time of ASF is the main factor to prevent OHSS. TVS may be an important tool in the detection of early period of follicles development. (authors)

  19. Central Retinal Artery Occlusion in a Patient with Metabolic Syndrome X

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    Sonja Predrag Cekić

    2010-01-01

    Full Text Available Purpose: To report a case of central retinal artery occlusion (CRAO in a patient with metabolic syndrome X. Case Report: A 64 year-old-man presented with abrupt, painless, and severe loss of vision in his left eye. Indirect ophthalmoscopy disclosed signs compatible with CRAO and laboratory investigations revealed erythrocyte sedimentation rate of 74 mm/h, C-reactive protein (CRP level of 21 mg/l, hyperglycemia, hyperuricemia, hypertriglyceridemia and hypercholesterolemia. Fluorescein angiography and immunological studies excluded other systemic disorders. The patient met the full criteria of the National Cholesterol Education Program for metabolic syndrome X. Conclusion: In addition to different vascular complications such as stroke, and cardiovascular disease, metabolic syndrome X may be associated with retinal vascular occlusions.

  20. Gastrointestinal Surgery and Related Complications in Patients with Ehlers-Danlos Syndrome

    DEFF Research Database (Denmark)

    Burcharth, Jakob; Rosenberg, Jacob

    2012-01-01

    Introduction: Ehlers-Danlos syndrome (EDS) is a rare inherited group of connective tissue diseases characterized by joint hypermobility, skin hyperextensibility and bruising tendency. Common features of patients with EDS include vascular and gastrointestinal perforations. The purpose...... of this systematic review is to address gastrointestinal diseases and the complications associated with surgical treatment of diseases relating to the gastrointestinal system in patients with EDS. Methods: PubMed search including the Medical Subject Heading (MeSH) terms 'Ehlers-Danlos Syndrome' and 'Gastrointestinal...... Diseases', and an Embase search including the Map Term to Subject Heading 'Ehlers-Danlos Syndrome' with 'AND' function of the keyword 'Gastrointestinal'. Results: The literature search resulted in inclusion of 53 articles after application of eligibility criteria. The primary results drawn from...

  1. Origin and diet of the prehistoric hunter-gatherers on the mediterranean island of Favignana (Ègadi Islands, Sicily.

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    Marcello A Mannino

    Full Text Available Hunter-gatherers living in Europe during the transition from the late Pleistocene to the Holocene intensified food acquisition by broadening the range of resources exploited to include marine taxa. However, little is known on the nature of this dietary change in the Mediterranean Basin. A key area to investigate this issue is the archipelago of the Ègadi Islands, most of which were connected to Sicily until the early Holocene. The site of Grotta d'Oriente, on the present-day island of Favignana, was occupied by hunter-gatherers when Postglacial environmental changes were taking place (14,000-7,500 cal BP. Here we present the results of AMS radiocarbon dating, palaeogenetic and isotopic analyses undertaken on skeletal remains of the humans buried at Grotta d'Oriente. Analyses of the mitochondrial hypervariable first region of individual Oriente B, which belongs to the HV-1 haplogroup, suggest for the first time on genetic grounds that humans living in Sicily during the early Holocene could have originated from groups that migrated from the Italian Peninsula around the Last Glacial Maximum. Carbon and nitrogen isotope analyses show that the Upper Palaeolithic and Mesolithic hunter-gatherers of Favignana consumed almost exclusively protein from terrestrial game and that there was only a slight increase in marine food consumption from the late Pleistocene to the early Holocene. This dietary change was similar in scale to that at sites on mainland Sicily and in the rest of the Mediterranean, suggesting that the hunter-gatherers of Grotta d'Oriente did not modify their subsistence strategies specifically to adapt to the progressive isolation of Favignana. The limited development of technologies for intensively exploiting marine resources was probably a consequence both of Mediterranean oligotrophy and of the small effective population size of these increasingly isolated human groups, which made innovation less likely and prevented transmission of

  2. Origin and Diet of the Prehistoric Hunter-Gatherers on the Mediterranean Island of Favignana (Ègadi Islands, Sicily)

    Science.gov (United States)

    Mannino, Marcello A.; Catalano, Giulio; Talamo, Sahra; Mannino, Giovanni; Di Salvo, Rosaria; Schimmenti, Vittoria; Lalueza-Fox, Carles; Messina, Andrea; Petruso, Daria; Caramelli, David; Richards, Michael P.; Sineo, Luca

    2012-01-01

    Hunter-gatherers living in Europe during the transition from the late Pleistocene to the Holocene intensified food acquisition by broadening the range of resources exploited to include marine taxa. However, little is known on the nature of this dietary change in the Mediterranean Basin. A key area to investigate this issue is the archipelago of the Ègadi Islands, most of which were connected to Sicily until the early Holocene. The site of Grotta d’Oriente, on the present-day island of Favignana, was occupied by hunter-gatherers when Postglacial environmental changes were taking place (14,000-7,500 cal BP). Here we present the results of AMS radiocarbon dating, palaeogenetic and isotopic analyses undertaken on skeletal remains of the humans buried at Grotta d’Oriente. Analyses of the mitochondrial hypervariable first region of individual Oriente B, which belongs to the HV-1 haplogroup, suggest for the first time on genetic grounds that humans living in Sicily during the early Holocene could have originated from groups that migrated from the Italian Peninsula around the Last Glacial Maximum. Carbon and nitrogen isotope analyses show that the Upper Palaeolithic and Mesolithic hunter-gatherers of Favignana consumed almost exclusively protein from terrestrial game and that there was only a slight increase in marine food consumption from the late Pleistocene to the early Holocene. This dietary change was similar in scale to that at sites on mainland Sicily and in the rest of the Mediterranean, suggesting that the hunter-gatherers of Grotta d’Oriente did not modify their subsistence strategies specifically to adapt to the progressive isolation of Favignana. The limited development of technologies for intensively exploiting marine resources was probably a consequence both of Mediterranean oligotrophy and of the small effective population size of these increasingly isolated human groups, which made innovation less likely and prevented transmission of fitness

  3. Audiological follow-up of 24 patients affected by Williams syndrome.

    Science.gov (United States)

    Barozzi, Stefania; Soi, Daniela; Spreafico, Emanuela; Borghi, Anna; Comiotto, Elisabetta; Gagliardi, Chiara; Selicorni, Angelo; Forti, Stella; Cesarani, Antonio; Brambilla, Daniele

    2013-09-01

    Williams syndrome is a neurodevelopmental disorder associated with cardiovascular problems, facial abnormalities and several behavioural and neurological disabilities. It is also characterized by some typical audiological features including abnormal sensitivity to sounds, cochlear impairment related to the outer hair cells of the basal turn of the cochlea, and sensorineural or mixed hearing loss, predominantly in the high frequency range. The aim of this report is to describe a follow-up study of auditory function in a cohort of children affected by this syndrome. 24 patients, aged 5-14 years, were tested by means of air/bone conduction pure-tone audiometry, immittance test and transient evoked otoacoustic emissions. They were evaluated again 5 years after the first assessment, and 10 of them underwent a second follow-up examination after a further 5 years. The audiometric results showed hearing loss, defined by a pure tone average >15 dB HL, in 12.5% of the participants. The incidence of hearing loss did not change over the 5-year period and increased to 30% in the patients who underwent the 10-year follow-up. Progressive sensorineural hearing loss was detected in 20% of the patients. A remarkable finding of our study regarded sensorineural hearing impairment in the high frequency range, which increased significantly from 25% to 50% of the participants over the 5-year period. The increase became even more significant in the group of patients who underwent the 10-year follow-up, by which time the majority of them (80%) had developed sensorineural hearing loss. Otoacoustic emissions were found to be absent in a high percentage of patients, thus confirming the cochlear fragility of individuals with Williams syndrome. Our study verified that most of the young Williams syndrome patients had normal hearing sensitivity within the low-middle frequency range, but showed a weakness regarding the high frequencies, the threshold of which worsened significantly over time in

  4. Comparative Clinical Profile of Postural Orthostatic Tachycardia Patients With and Without Joint Hypermobility Syndrome

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    Blair P Grubb

    2010-04-01

    Full Text Available Background: Autonomic dysfunction is common in patients with the joint hypermobility syndrome (JHS. However, there is a paucity of reported data on clinical features of Postural orthostatic tachycardia syndrome (POTS in patients suffering from JHS.Methods: This retrospective study was approved by our local Institutional Review Board (IRB. Over a period of 10 years, 26 patients of POTS were identified for inclusion in this study. All these patients had features of Joint Hypermobility Syndrome (by Brighton criterion. A comparison group of 39 patients with other forms of POTS were also followed in the autonomic clinic during the same time. We present a descriptive report on the comparative clinical profile of the clinical features of Postural Orthostatic Tachycardia patients with and without Joint Hypermobility syndrome. The data is presented as a mean±SD and percentages wherever applicable.Results: Out of 65 patients, 26 patients (all females, 20 Caucasians had POTS and JHS. The mean age at presentation of POTS was 24±13 (range 10-53 years vs 41±12 (range 19-65 years, P=0.0001, Migraine was a common co morbidity 73 vs 29% p=0,001. In two patients POTS was precipitated by pregnancy, and in three by surgery, urinary tract infection and a viral syndrome respectively. The common clinical features were fatigue (58%, orthostatic palpitations (54%, presyncope (58%, and syncope (62%.Conclusion: Patients with POTS and JHS appear to become symptomatic at an earlier age compared to POTS patients without JHS. In addition patients with JHS had a greater incidence of migraine and syncope than their non JHS counterparts.

  5. Direct Acting Antivirals in Patients with Chronic Hepatitis C and Down Syndrome

    Directory of Open Access Journals (Sweden)

    Eric R. Yoo

    2016-01-01

    Full Text Available Patients with Down syndrome who received blood transfusions, likely in conjunction with cardiothoracic surgery for congenital heart disease and prior to the implementation of blood-donor screening for hepatitis C virus infection, face a substantial risk of acquiring the infection. In the past, interferon-based therapy for chronic hepatitis C infection in patients with Down syndrome was noted to have lower efficacy and potentially higher risk of adverse effects. Recently, the treatment for chronic hepatitis C has been revolutionized with the introduction of interferon-free direct acting antivirals with favorable safety, tolerability, and efficacy profile. Based on our experiences, the newly approved sofosbuvir-based direct acting antiviral therapy is well tolerated and highly efficacious in this subpopulation of hepatitis C virus infected patients with Down syndrome.

  6. Toxicity of oral radiotherapy in patients with acquired immunodeficiency syndrome

    International Nuclear Information System (INIS)

    Cooper, J.S.; Fried, P.R.

    1987-01-01

    Although radiotherapy is a standard form of management of head and neck tumors, treatment of the oral cavity in patients who have the acquired immunodeficiency syndrome has produced unacceptable toxicity. Five such patients are described as a warning of enhanced toxicity of oral radiotherapy in this patient population

  7. Outcomes of On-pump Coronary Artery Bypass Grafting in Patients with Metabolic Syndrome in Mashhad, Iran

    Directory of Open Access Journals (Sweden)

    Aliasghar Moeinipour

    2017-09-01

    Full Text Available Introduction: Metabolic syndrome (MS is considered as an important risk factor for advanced coronary artery disease. This condition can increase the mortality and morbidity in the patients undergoing coronary artery bypass graft (CABG surgery. The aim of the study was compared mortality and morbidity after off Pump- CABG surgery between patients with and without the Metabolic syndrome. Materials & Methods: This prospective cross-sectional study was conducted on 120 patients, who underwent off-pump CABG surgery between October 2014-October 2016. The participants were equally divided into two groups including the patients with and without MS (MS and non-MS, respectively. Results: According to the results, 68 (56.6% patients were male. Furthermore, out of the 60 participants with MS, 36 (60% cases were male. The mean ages of the MS and non-MS groups were 64.96±9.6 and 65.62±10.6 P=0.6 years, respectively. No statistically significant difference was observed between the two groups in terms of the mortality and morbidity (e.g., surgical wound infection, length of Intensive Care Unit and hospital stay, atrial fibrillation rhythm, and bleeding in the first 24 h. The intubation time in patients with Metabolic Syndrome was significantly higher than patients without Metabolic Syndrome (6.66 ± 1.97 vs 5.83 ± 1.93 respectively; P=0.007 Conclusion: Metabolic syndrome was not associated with higher mortality and morbidity after CABG surgery compare to patients without Metabolic syndrome, although patients with Metabolic syndrome had higher risk for long intubation time.

  8. 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)

  9. 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)

  10. Systematic immunohistochemical screening for Lynch syndrome in colorectal cancer: a single centre experience of 486 patients.

    Science.gov (United States)

    Zumstein, Valentin; Vinzens, Fabrizio; Zettl, Andreas; Heinimann, Karl; Koeberle, Dieter; von Flüe, Markus; Bolli, Martin

    2016-01-01

    Germline mutations in DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause autosomal dominantly inherited Lynch syndrome. Lynch syndrome patients and their families benefit from life-saving intensive cancer surveillance. Approximately one in 30 colorectal cancers arises in the setting of Lynch syndrome. The aim of this study was to assess the detection rate of Lynch syndrome at our institution after introduction of systematic immunohistochemical screening for MMR deficiency in colorectal cancers from 2011 to 2015. Following the recommendations by the Evaluation of Genomic Applications in Practice and Prevention working group all colorectal cancers were immunohistochemically stained for the presence of MMR proteins MLH1, PMS2, MSH2 and MSH6, independent of clinical criteria. In the case of loss of MLH1, the somatic BRAF mutation V600E was assessed with molecular testing and/or immunohistochemistry. Clinical follow-up of potential Lynch syndrome carriers (patients with tumours showing loss of MLH1 expression with absence of BRAFV600E, loss of PMS2, MSH2 or MSH6) was evaluated. Of all patients (n = 486), loss of MMR protein expression was found in 73 (15.0%) tumours. Twenty-eight (6.0%) were classified as potential Lynch syndrome carriers. Of the genetically tested potential Lynch syndrome carriers (10 out of 28 patients), 40% were first diagnosed with Lynch syndrome. Implementation of systematic immunohistochemistry screening for Lynch syndrome showed that 6% of colorectal cancers were potentially Lynch-syndrome related. Tumour board protocols should systematically contain information on MMR status of all colorectal cancers and, in MMR deficient cases, include clear recommendations for genetic counselling for all potential Lynch syndrome patients.

  11. 76 FR 46149 - Financial Assistance: Wildlife Restoration, Sport Fish Restoration, Hunter Education and Safety

    Science.gov (United States)

    2011-08-01

    ... these regulations on June 10, 2010, to address changes in law, regulation, policy, technology, and... Service 50 CFR Part 80 Financial Assistance: Wildlife Restoration, Sport Fish Restoration, Hunter... 80 [Docket No. FWS-R9-WSR-2009-0088; 91400-5110-POLI-7B; 91400-9410-POLI- 7B] RIN 1018-AW65 Financial...

  12. Systemic lupus erythematosus and Wiskott-Aldrich syndrome in an Italian patient

    NARCIS (Netherlands)

    Monteferrante, G.; Giani, M.; van den Heuvel, M. C.

    Systemic lupus erythematosus has not yet been associated with mutations in the Wiskott-Aldrich syndrome gene; moreover, the time courses of platelet number and size in patients with Wiskott-Aldrich syndrome are unknown. In this case, we present the time trends of platelet count and volume and the

  13. Marfan syndrome. Part 2: treatment and management of patients.

    Science.gov (United States)

    Cañadas, Victoria; Vilacosta, Isidre; Bruna, Isidoro; Fuster, Valentin

    2010-05-01

    Aortic disease is the main cause of death among patients with Marfan syndrome. Before the development of open surgery, most patients died in the fourth decade of life. Improvements in surgical techniques have facilitated prophylactic surgery and have dramatically changed the life expectancy of patients with Marfan syndrome. Valve-sparing techniques are becoming the standard surgical treatment for these patients, since the operative and long-term results are comparable with those obtained with the Bentall and De Bono procedure and their theoretical advantages over the Bentall and De Bono procedure are attractive for young patients. Distal aortic complications still cause substantial morbidity in patients who have undergone surgery. On the other hand, several medical approaches have appeared as alternatives or adjuncts to the standard treatment with beta-blockers. Mouse models of the disease have shown that the angiotensin II receptor blocker losartan can rescue the phenotype. Among female patients, pregnancy deserves special consideration. Aortic dissection occurs mainly in the third trimester of gestation and in patients with dilated aortas. As aortic dissection carries a high risk of maternal mortality and fetal demise, prophylactic aortic surgery is recommended before attempting pregnancy for those women with an aortic diameter exceeding 40 mm.

  14. Joubert syndrome: Clinical and radiological characteristics of nine patients

    Directory of Open Access Journals (Sweden)

    Ahmed Farag Elhassanien

    2013-01-01

    Full Text Available Background: Joubert Syndrome (JS is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient. Aim of the Study: To spotlight and increase awareness of clinical profile and neuroimaging findings of children with Joubert syndrome. Methods: This is a retrospective case series study of patients with JS who attended the Pediatric Neurology Clinic in Aladan and Alfarawanya Hospitals in Kuwait, from September 2007 to September 2012. Clinical and radiological data were obtained from the patient medical records. Results: Cerebellar vermis hypoplasia/aplasia and apnea were present in all patients, polydactly in 3 of 16, renal problems with cysts in 5 patients and 11 of 16 had abnormal electroretinograms (ERGs. Blood investigations of organic acids, amino acids and very-long-chain fatty acid, were normal in the all the nine patients. Conclusion: JS is a rare genetic brain malformation with association of retinal dystrophy and renal abnormalities. The retinal dystrophy may be progressive. The prognosis of patients depends mainly on the degree of brain malformation.

  15. Cellulitis as complication of nephrotic syndrome in a pediatric patient

    Science.gov (United States)

    Siregar, R. S.; Daulay, K. R.; Siregar, B.; Ramayani, O. R.; Eyanoer, P. C.

    2018-03-01

    Nephrotic syndrome is a chronic disease that may act as a risk for other major infection in skin, respiratory and urinary tract, while also increasingthe chance for other diseases, like peritonitis, meningitis, and cellulitis. Cellulitis is often caused by Streptococcus β-hemolytic, Staphylococcus aureus, and Escherichia coli. The clinical features of cellulitis marked with redness rash and well-defined borders, pain pressure and swelling. Hypoalbuminemia which occurs due to proteinuria occurred in this patient acts as a risk factor for cellulitis. It has been reported the case of cellulitis as one of the complications of the nephrotic syndrome in the pediatric patient. The treatment has been given to the patient such as antibiotics and supportive therapy and also planned albumin substitution.

  16. Molecular characterization of a patient presumed to have prader-willi syndrome.

    Science.gov (United States)

    Falaleeva, Marina; Sulsona, Carlos R; Zielke, Horst R; Currey, Kathleen M; de la Grange, Pierre; Aslanzadeh, Vahid; Driscoll, Daniel J; Stamm, Stefan

    2013-01-01

    Prader-Willi syndrome (PWS) is caused by the loss of RNA expression from an imprinted region on chromosome 15 that includes SNRPN, SNORD115, and SNORD116. Currently, there are no mouse models that faithfully reflect the human phenotype and investigations rely on human post-mortem material. During molecular characterization of tissue deposited in a public brain bank from a patient diagnosed with Prader-Willi syndrome, we found RNA expression from SNRPN, SNORD115, and SNORD116 which does not support a genetic diagnosis of Prader-Willi syndrome. The patient was a female, Caucasian nursing home resident with history of morbid obesity (BMI 56.3) and mental retardation. She died at age of 56 from pulmonary embolism. SNORD115 and SNORD116 are unexpectedly stable in post mortem tissue and can be used for post-mortem diagnosis. Molecular characterization of PWS tissue donors can confirm the diagnosis and identify those patients that have been misdiagnosed.

  17. Globus Pallidus Interna Deep Brain Stimulation in a Patient with Medically Intractable Meige Syndrome

    Directory of Open Access Journals (Sweden)

    Dae-Woong Bae

    2014-10-01

    Full Text Available Medical therapies in patients with Meige syndrome, including botulinum toxin injection, have been limited because of incomplete response or adverse side effects. We evaluated a patient with Meige syndrome who was successfully treated with deep brain stimulation (DBS in the globus pallidus interna (GPi. This case report and other previous reports suggest that bilateral GPi DBS may be an effective treatment for medically refractory Meige syndrome, without significant adverse effects.

  18. Chest wall syndrome among primary care patients: a cohort study

    Directory of Open Access Journals (Sweden)

    Verdon François

    2007-09-01

    Full Text Available Abstract Background The epidemiology of chest pain differs strongly between outpatient and emergency settings. In general practice, the most frequent cause is the chest wall pain. However, there is a lack of information about the characteristics of this syndrome. The aims of the study are to describe the clinical aspects of chest wall syndrome (CWS. Methods Prospective, observational, cohort study of patients attending 58 private practices over a five-week period from March to May 2001 with undifferentiated chest pain. During a one-year follow-up, questionnaires including detailed history and physical exam, were filled out at initial consultation, 3 and 12 months. The outcomes were: clinical characteristics associated with the CWS diagnosis and clinical evolution of the syndrome. Results Among 24 620 consultations, we observed 672 cases of chest pain and 300 (44.6% patients had a diagnosis of chest wall syndrome. It affected all ages with a sex ratio of 1:1. History and sensibility to palpation were the keys for diagnosis. Pain was generally moderate, well localised, continuous or intermittent over a number of hours to days or weeks, and amplified by position or movement. The pain however, may be acute. Eighty-eight patients were affected at several painful sites, and 210 patients at a single site, most frequently in the midline or a left-sided site. Pain was a cause of anxiety and cardiac concern, especially when acute. CWS coexisted with coronary disease in 19 and neoplasm in 6. Outcome at one year was favourable even though CWS recurred in half of patients. Conclusion CWS is common and benign, but leads to anxiety and recurred frequently. Because the majority of chest wall pain is left-sided, the possibility of coexistence with coronary disease needs careful consideration.

  19. Chest wall syndrome among primary care patients: a cohort study.

    Science.gov (United States)

    Verdon, François; Burnand, Bernard; Herzig, Lilli; Junod, Michel; Pécoud, Alain; Favrat, Bernard

    2007-09-12

    The epidemiology of chest pain differs strongly between outpatient and emergency settings. In general practice, the most frequent cause is the chest wall pain. However, there is a lack of information about the characteristics of this syndrome. The aims of the study are to describe the clinical aspects of chest wall syndrome (CWS). Prospective, observational, cohort study of patients attending 58 private practices over a five-week period from March to May 2001 with undifferentiated chest pain. During a one-year follow-up, questionnaires including detailed history and physical exam, were filled out at initial consultation, 3 and 12 months. The outcomes were: clinical characteristics associated with the CWS diagnosis and clinical evolution of the syndrome. Among 24 620 consultations, we observed 672 cases of chest pain and 300 (44.6%) patients had a diagnosis of chest wall syndrome. It affected all ages with a sex ratio of 1:1. History and sensibility to palpation were the keys for diagnosis. Pain was generally moderate, well localised, continuous or intermittent over a number of hours to days or weeks, and amplified by position or movement. The pain however, may be acute. Eighty-eight patients were affected at several painful sites, and 210 patients at a single site, most frequently in the midline or a left-sided site. Pain was a cause of anxiety and cardiac concern, especially when acute. CWS coexisted with coronary disease in 19 and neoplasm in 6. Outcome at one year was favourable even though CWS recurred in half of patients. CWS is common and benign, but leads to anxiety and recurred frequently. Because the majority of chest wall pain is left-sided, the possibility of coexistence with coronary disease needs careful consideration.

  20. Chest wall syndrome among primary care patients: a cohort study

    Science.gov (United States)

    Verdon, François; Burnand, Bernard; Herzig, Lilli; Junod, Michel; Pécoud, Alain; Favrat, Bernard

    2007-01-01

    Background The epidemiology of chest pain differs strongly between outpatient and emergency settings. In general practice, the most frequent cause is the chest wall pain. However, there is a lack of information about the characteristics of this syndrome. The aims of the study are to describe the clinical aspects of chest wall syndrome (CWS). Methods Prospective, observational, cohort study of patients attending 58 private practices over a five-week period from March to May 2001 with undifferentiated chest pain. During a one-year follow-up, questionnaires including detailed history and physical exam, were filled out at initial consultation, 3 and 12 months. The outcomes were: clinical characteristics associated with the CWS diagnosis and clinical evolution of the syndrome. Results Among 24 620 consultations, we observed 672 cases of chest pain and 300 (44.6%) patients had a diagnosis of chest wall syndrome. It affected all ages with a sex ratio of 1:1. History and sensibility to palpation were the keys for diagnosis. Pain was generally moderate, well localised, continuous or intermittent over a number of hours to days or weeks, and amplified by position or movement. The pain however, may be acute. Eighty-eight patients were affected at several painful sites, and 210 patients at a single site, most frequently in the midline or a left-sided site. Pain was a cause of anxiety and cardiac concern, especially when acute. CWS coexisted with coronary disease in 19 and neoplasm in 6. Outcome at one year was favourable even though CWS recurred in half of patients. Conclusion CWS is common and benign, but leads to anxiety and recurred frequently. Because the majority of chest wall pain is left-sided, the possibility of coexistence with coronary disease needs careful consideration. PMID:17850647