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Sample records for syndrome increased dysfunctional

  1. Increased expression of matrix metalloproteinases in the murine zymosan-induced multiple organ dysfunction syndrome.

    NARCIS (Netherlands)

    Volman, T.J.H.; Goris, R.J.A.; Lomme, R.M.L.M.; Groot, J. de; Verhofstad, A.A.J.; Hendriks, T.

    2004-01-01

    Matrix metalloproteinases (MMPs) have been implicated as mediators of tissue damage in several inflammatory diseases. Since the multiple organ dysfunction syndrome (MODS) is thought to result from systemic inflammation, overactivation of MMPs could contribute to the organ damage observed. The

  2. Increased glia density in the caudate nucleus in williams syndrome: Implications for frontostriatal dysfunction in autism.

    Science.gov (United States)

    Hanson, Kari L; Lew, Caroline H; Hrvoj-Mihic, Branka; Groeniger, Kimberly M; Halgren, Eric; Bellugi, Ursula; Semendeferi, Katerina

    2017-11-01

    Williams syndrome (WS) is a rare neurodevelopmental disorder with a well-described, known genetic etiology. In contrast to Autism Spectrum Disorders (ASD), WS has a unique phenotype characterized by global reductions in IQ and visuospatial ability, with relatively preserved language function, enhanced reactivity to social stimuli and music, and an unusual eagerness to interact socially with strangers. A duplication of the deleted region in WS has been implicated in a subset of ASD cases, defining a spectrum of genetic and behavioral variation at this locus defined by these opposite extremes in social behavior. The hypersociability characteristic of WS may be linked to abnormalities of frontostriatal circuitry that manifest as deficits in inhibitory control of behavior. Here, we examined the density of neurons and glia in associative and limbic territories of the striatum including the caudate, putamen, and nucleus accumbens regions in Nissl stained sections in five pairs of age, sex, and hemisphere-matched WS and typically-developing control (TD) subjects. In contrast to what is reported in ASD, no significant increase in overall neuron density was observed in this study. However, we found a significant increase in the density of glia in the dorsal caudate nucleus, and in the ratio of glia to neurons in the dorsal and medial caudate nucleus in WS, accompanied by a significant increase in density of oligodendrocytes in the medial caudate nucleus. These cellular abnormalities may underlie reduced frontostriatal activity observed in WS, with implications for understanding altered connectivity and function in ASD. © 2017 Wiley Periodicals, Inc. Develop Neurobiol, 2017. © 2017 Wiley Periodicals, Inc.

  3. β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome.

    Science.gov (United States)

    Shang, Linshan; Hua, Haiqing; Foo, Kylie; Martinez, Hector; Watanabe, Kazuhisa; Zimmer, Matthew; Kahler, David J; Freeby, Matthew; Chung, Wendy; LeDuc, Charles; Goland, Robin; Leibel, Rudolph L; Egli, Dieter

    2014-03-01

    Wolfram syndrome is an autosomal recessive disorder caused by mutations in WFS1 and is characterized by insulin-dependent diabetes mellitus, optic atrophy, and deafness. To investigate the cause of β-cell failure, we used induced pluripotent stem cells to create insulin-producing cells from individuals with Wolfram syndrome. WFS1-deficient β-cells showed increased levels of endoplasmic reticulum (ER) stress molecules and decreased insulin content. Upon exposure to experimental ER stress, Wolfram β-cells showed impaired insulin processing and failed to increase insulin secretion in response to glucose and other secretagogues. Importantly, 4-phenyl butyric acid, a chemical protein folding and trafficking chaperone, restored normal insulin synthesis and the ability to upregulate insulin secretion. These studies show that ER stress plays a central role in β-cell failure in Wolfram syndrome and indicate that chemical chaperones might have therapeutic relevance under conditions of ER stress in Wolfram syndrome and other forms of diabetes.

  4. Thyroid dysfunction in Down's syndrome.

    OpenAIRE

    Loudon, M M; Day, R E; Duke, E M

    1985-01-01

    One hundred and sixteen children with Down's syndrome, living in the community, were examined for clinical or laboratory evidence of thyroid dysfunction. Three were hypothyroid and one was hyperthyroid. Twenty eight (29%) had thyroid autoantibodies. Autoimmune conditions were present in first or second degree relatives of 35 (30%) of the children, and in 17 (15%) this was a thyroid disorder. The families of normal control children also showed a 30% incidence of overt autoimmune conditions, an...

  5. Mitochondrial Dysfunction in Metabolic Syndrome and Asthma

    Science.gov (United States)

    Mabalirajan, Ulaganathan; Ghosh, Balaram

    2013-01-01

    Though severe or refractory asthma merely affects less than 10% of asthma population, it consumes significant health resources and contributes significant morbidity and mortality. Severe asthma does not fell in the routine definition of asthma and requires alternative treatment strategies. It has been observed that asthma severity increases with higher body mass index. The obese-asthmatics, in general, have the features of metabolic syndrome and are progressively causing a significant burden for both developed and developing countries thanks to the westernization of the world. As most of the features of metabolic syndrome seem to be originated from central obesity, the underlying mechanisms for metabolic syndrome could help us to understand the pathobiology of obese-asthma condition. While mitochondrial dysfunction is the common factor for most of the risk factors of metabolic syndrome, such as central obesity, dyslipidemia, hypertension, insulin resistance, and type 2 diabetes, the involvement of mitochondria in obese-asthma pathogenesis seems to be important as mitochondrial dysfunction has recently been shown to be involved in airway epithelial injury and asthma pathogenesis. This review discusses current understanding of the overlapping features between metabolic syndrome and asthma in relation to mitochondrial structural and functional alterations with an aim to uncover mechanisms for obese-asthma. PMID:23840225

  6. Increased Neutrophil Gelatinase-Associated Lipocalin is Associated with Mortality and Multiple Organ Dysfunction Syndrome in Severe Sepsis and Septic Shock.

    Science.gov (United States)

    Wang, Biao; Chen, Gang; Zhang, Jun; Xue, Jiping; Cao, Yifei; Wu, Yunfu

    2015-09-01

    This study examines the clinical utility of increased neutrophil gelatinase-associated lipocalin (NGAL) as an indicator of mortality and multiple organ dysfunction syndrome (MODS) in severe sepsis and septic shock. We designed a prospective cohort study in an intensive care unit, and 123 patients with severe sepsis or septic shock were included. Data were used to determine a relationship between NGAL and the development of MODS and mortality. These associations were determined by the Mann-Whitney U test, log-rank test, Cox proportional hazards regression analyses, and plotting the receiver operating characteristic curve. Patients with high NGAL (75th percentile) had increased risk of mortality and MODS compared with patients with low NGAL (log-rank test, P septic shock.

  7. Dysfunctional Endothelial Progenitor Cells in Metabolic Syndrome

    Science.gov (United States)

    Devaraj, Sridevi; Jialal, Ishwarlal

    2012-01-01

    The metabolic syndrome (MetS) is highly prevalent and confers an increased risk of diabetes and cardiovascular disease. A key early event in atherosclerosis is endothelial dysfunction. Numerous groups have reported endothelial dysfunction in MetS. However, the measurement of endothelial function is far from optimum. There has been much interest recently in a subtype of progenitor cells, termed endothelial progenitor cells (EPCs), that can circulate, proliferate, and dfferentiate into mature endothelial cells. EPCs can be characterized by the assessment of surface markers, CD34 and vascular endothelial growth factor receptor-2, VEGFR-2 (KDR). The CD34+KDR+ phenotype has been demonstrated to be an independent predictor of cardiovascular outcomes. MetS patients without diabetes or cardiovascular diseases have decreased EPC number and functionality as evidenced by decreased numbers of colony forming units, decreased adhesion and migration, and decreased tubule formation. Strategies that have been shown to upregulate and enhance EPC number and functionality include statins, angiotensin converting enzyme inhibitors, angiotensin receptor blockers, and peroxisome-proliferator-activating-receptor gamma agonists. Mechanisms by which they affect EPC number and functionality need to be studied. Thus, EPC number and/or functionality could emerge as novel cellular biomarkers of endothelial dysfunction and cardiovascular disease risk in MetS. PMID:21941528

  8. Corneal endothelial dysfunction in Pearson syndrome.

    Science.gov (United States)

    Kasbekar, Shivani A; Gonzalez-Martin, Jose A; Shafiq, Ayad E; Chandna, Arvind; Willoughby, Colin E

    2013-01-01

    Mitochondrial disorders are associated with well recognized ocular manifestations. Pearson syndrome is an often fatal, multisystem, mitochondrial disorder that causes variable bone marrow, hepatic, renal and pancreatic exocrine dysfunction. Phenotypic progression of ocular disease in a 12-year-old male with Pearson syndrome is described. This case illustrates phenotypic drift from Pearson syndrome to Kearns-Sayre syndrome given the patient's longevity. Persistent corneal endothelial failure was noted in addition to ptosis, chronic external ophthalmoplegia and mid-peripheral pigmentary retinopathy. We propose that corneal edema resulting from corneal endothelial metabolic pump failure occurs within a spectrum of mitochondrial disorders.

  9. The Temporomandibular Pain -Dysfunction Syndrome | Jonck ...

    African Journals Online (AJOL)

    The temporomandibular pain-dysfunction syndrome is reviewed. The functional anatomy and the neurophysiological mechanism of the temporomandibular joint are discussed. The purpose of treatment is to reintroduce synchronisation of the moving parts of the joint. S. Afr. Med. J., 48, 1103 (1974) ...

  10. Adipose Tissue Dysfunction in Nascent Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Andrew A. Bremer

    2013-01-01

    Full Text Available The metabolic syndrome (MetS confers an increased risk for both type 2 diabetes mellitus (T2DM and cardiovascular disease (CVD. Moreover, studies on adipose tissue biology in nascent MetS uncomplicated by T2DM and/or CVD are scanty. Recently, we demonstrated that adipose tissue dysregulation and aberrant adipokine secretion contribute towards the syndrome’s low-grade chronic proinflammatory state and insulin resistance. Specifically, we have made the novel observation that subcutaneous adipose tissue (SAT in subjects with nascent MetS has increased macrophage recruitment with cardinal crown-like structures. We have also shown that subjects with nascent MetS have increased the levels of SAT-secreted adipokines (IL-1, IL-6, IL-8, leptin, RBP-4, CRP, SAA, PAI-1, MCP-1, and chemerin and plasma adipokines (IL-1, IL-6, leptin, RBP-4, CRP, SAA, and chemerin, as well as decreased levels of plasma adiponectin and both plasma and SAT omentin-1. The majority of these abnormalities persisted following correction for increased adiposity. Our data, as well as data from other investigators, thus, highlight the importance of subcutaneous adipose tissue dysfunction in subjects with MetS and its contribution to the proinflammatory state and insulin resistance. This adipokine profile may contribute to increased insulin resistance and low-grade inflammation, promoting the increased risk of T2DM and CVD.

  11. Risk factors for canine cognitive dysfunction syndrome in Slovakia

    OpenAIRE

    Katina, Stanislav; Farbakova, Jana; Madari, Aladar; Novak, Michal; Zilka, Norbert

    2016-01-01

    Background Increasing prevalence of cognitive impairment in an aging canine population poses a serious health problem. Identifying risk factors, which may influence the onset of cognitive decline, is becoming increasingly important. Here we investigated whether age, sex, weight, nutrition, dogs? housing and reproductive state were associated with increased risk of canine cognitive dysfunction syndrome (CCDS) in Slovakia. Results Age was associated with cognitive decline and nutrition emerged ...

  12. Apraxia and motor dysfunction in corticobasal syndrome.

    Science.gov (United States)

    Burrell, James R; Hornberger, Michael; Vucic, Steve; Kiernan, Matthew C; Hodges, John R

    2014-01-01

    Corticobasal syndrome (CBS) is characterized by multifaceted motor system dysfunction and cognitive disturbance; distinctive clinical features include limb apraxia and visuospatial dysfunction. Transcranial magnetic stimulation (TMS) has been used to study motor system dysfunction in CBS, but the relationship of TMS parameters to clinical features has not been studied. The present study explored several hypotheses; firstly, that limb apraxia may be partly due to visuospatial impairment in CBS. Secondly, that motor system dysfunction can be demonstrated in CBS, using threshold-tracking TMS, and is linked to limb apraxia. Finally, that atrophy of the primary motor cortex, studied using voxel-based morphometry analysis (VBM), is associated with motor system dysfunction and limb apraxia in CBS. Imitation of meaningful and meaningless hand gestures was graded to assess limb apraxia, while cognitive performance was assessed using the Addenbrooke's Cognitive Examination - Revised (ACE-R), with particular emphasis placed on the visuospatial subtask. Patients underwent TMS, to assess cortical function, and VBM. In total, 17 patients with CBS (7 male, 10 female; mean age 64.4+/- 6.6 years) were studied and compared to 17 matched control subjects. Of the CBS patients, 23.5% had a relatively inexcitable motor cortex, with evidence of cortical dysfunction in the remaining 76.5% patients. Reduced resting motor threshold, and visuospatial performance, correlated with limb apraxia. Patients with a resting motor threshold apraxia correlated with atrophy of the pre-motor and parietal cortices. Cortical dysfunction appears to underlie the core clinical features of CBS, and is associated with atrophy of the primary motor and pre-motor cortices, as well as the thalamus, while apraxia correlates with pre-motor and parietal atrophy.

  13. Neuroendocrine dysfunction in Sjogren's syndrome.

    Science.gov (United States)

    Tzioufas, Athanasios G; Tsonis, John; Moutsopoulos, Haralampos M

    2008-01-01

    Interactions among the immune, nervous and endocrine systems, which are mediated by hormones, neuropeptides, neurotransmitters, cytokines and their receptors, appear to play an important role in modulating host susceptibility and resistance to inflammatory disease. The neuroendocrine system has two main components: the central and the peripheral. The central compartment is located in the locus ceruleus, the brainstem centers of the autonomic system and the paraventricular nucleus; the peripheral mainly consists of the sympathetic/adrenomedullary system, the hypothalamic-pituitary-adrenal axis (HPA), the hypothalamic-pituitary-gonadal (HPG) axis, and the neuroendocrine tissue located in several organs throughout the body. Hormones and neuropeptides may influence the activities of lymphoid organs and cells via endocrine and local autocrine/paracrine pathways or alter the function of different cell types in target organs. Recent studies highlighted alterations of the neuroendocrine system in systemic autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus and Sjogren's syndrome (SS). SS, a prototype autoimmune disorder, has a wide clinical spectrum, extending from organ involvement (autoimmune exocrinopathy) to systemic disease and B cell lymphoma. In SS, several functions of the neuroendocrine system are impaired. First, the HPA axis appears to be disturbed, since significantly lower basal ACTH and cortisol levels were found in patients with SS and were associated with a blunted pituitary and adrenal response to ovine corticotropin-releasing factor compared to normal controls. Second, HPG axis is also involved, since lack of estrogens is associated with human disease and the development of autoimmune exocrinopathy in several experimental models. Finally, exocrine glands are enriched with neuroendocrine-related molecules, adjacent to local autoimmune lesions. Certain clinical manifestations of the disease, including the sicca manifestations

  14. [Inflammatory mediator and organ dysfunction syndrome].

    Science.gov (United States)

    Shimada, H; Moriwaki, Y; Kurosawa, H; Kubota, T; Endo, I; Togo, S; Yamaoka, H

    1998-08-01

    Inflammatory mediators include endotoxin (ETX), cytokines (interleukins [ILs], tumor necrosis factors [TNFs], and interferons), eicosanoids (prostaglandins and thromboxanes), reactive oxygen species (O2-, NO, and ONOO-), complements (C3 and C4), and stress hormones (catecholamine, cortisol, vasopressin, and growth hormone). These mediators work to maintain homeostasis under stressful conditions through a complex chain reaction or cascade that results in transient tissue damage known as the inflammatory response. The inflammatory response is decreased by a negative feedback system, which consists not only of the self-inhibitory action of ETX, TNF-alpha, IL-1, and IL-8, but also of the production of antiinflammatory mediators such as IL-4, -10, -11, and -13, TGF-beta, IL-Ra, and sTNFR. If excessive stress or a second attack of stress results in a higher level of inflammation-producing mediators than of inflammation-inhibiting mediators, tissue destruction occurs due to activation and infiltration of inflammatory cells or necrosis due to endothelial injury is seen, followed by disruption of homeostasis, organ dysfunction, and organ failure (multiple organ dysfunction syndrome [MODS] or multiple organ failure [MOF] induced by SIRS). In experimental liver dysfunction after 95% hepatectomy, massive apoptosis of hepatocytes is induced by prolonged hypercytokinemia, ONOO- production, decreased mitochondrial membrane potential of hepatocytes, and decreased Bc12 levels. On the other hand, if the antiinflammatory response is greater than the inflammatory response (CARS) a compromised state and refractory infection are seen, followed by progressive, irreversible organ dysfunction (MODS or MOF induced by CARS).

  15. Understanding Muscle Dysfunction in Chronic Fatigue Syndrome

    Directory of Open Access Journals (Sweden)

    Gina Rutherford

    2016-01-01

    Full Text Available Introduction. Chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME is a debilitating disorder of unknown aetiology, characterised by severe disabling fatigue in the absence of alternative diagnosis. Historically, there has been a tendency to draw psychological explanations for the origin of fatigue; however, this model is at odds with findings that fatigue and accompanying symptoms may be explained by central and peripheral pathophysiological mechanisms, including effects of the immune, oxidative, mitochondrial, and neuronal pathways. For example, patient descriptions of their fatigue regularly cite difficulty in maintaining muscle activity due to perceived lack of energy. This narrative review examined the literature for evidence of biochemical dysfunction in CFS/ME at the skeletal muscle level. Methods. Literature was examined following searches of PUB MED, MEDLINE, and Google Scholar, using key words such as CFS/ME, immune, autoimmune, mitochondria, muscle, and acidosis. Results. Studies show evidence for skeletal muscle biochemical abnormality in CFS/ME patients, particularly in relation to bioenergetic dysfunction. Discussion. Bioenergetic muscle dysfunction is evident in CFS/ME, with a tendency towards an overutilisation of the lactate dehydrogenase pathway following low-level exercise, in addition to slowed acid clearance after exercise. Potentially, these abnormalities may lead to the perception of severe fatigue in CFS/ME.

  16. Effects of liraglutide on ovarian dysfunction in polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Nylander, Malin; Frøssing, Signe; Clausen, Helle V.

    2017-01-01

    Polycystic ovary syndrome (PCOS) encompasses an ovarian and a metabolic dysfunction. Glucagon-like peptide-1 (GLP-1) analogues facilitate weight loss and ameliorate metabolic dysfunction in overweight women with PCOS, but their effect on ovarian dysfunction is scarcely reported. In a double...

  17. Sensory dysfunction and the irritable bowel syndrome.

    Science.gov (United States)

    Houghton, L A

    1999-10-01

    Dysfunction of the sensory system of the gut is now generally believed to be important in the pathophysiology of irritable bowel syndrome (IBS). This disturbance may well account for some of the symptoms of the disorder, such as abdominal pain, by virtue of the fact that intra-lumenal events (e.g. contractions) may be 'sensed' more easily. It can be assessed in the laboratory by a variety of techniques, but usually involves measuring the patient's response to distension of any site of the gut, most commonly the rectum. Hypersensitivity is the most frequent finding, but hyposensitivity can also occur--hypersensitivity does not appear to be specific to any particular pattern of bowel habit, but hyposensitivity does tend to be generally only seen in patients with constipation, especially those with the 'no urge' type. Although there is some evidence to support hypersensitivity being related to enhanced vigilance in some patients, other data suggest that there may be a true alteration in sensory processing. The mechanisms underlying this sensory dysfunction remain to be elucidated, but could involve changes in either the enteric, spinal and/or central nervous systems. Finally, factors such as gender, stress, emotion and infection can all influence the sensitivity of the gut and may therefore play a role in IBS.

  18. Cardiac autonomic dysfunction in West syndrome.

    Science.gov (United States)

    Jansen, Katrien; Vandeput, Steven; Van Huffel, Sabine; Lagae, Lieven

    2012-12-01

    West syndrome is an age-dependent epileptic encephalopathy. Autonomic changes are increasingly being recognized in patients with epilepsy: cardiac autonomic function is mediated by sympathetic and parasympathetic efferent activity to the heart and can provide information on the functional state of the autonomic nervous system. The goal of the study is to evaluate the effect of an early epileptic encephalopathy on the autonomic nervous system by measuring heart rate variability. Cardiac autonomic function was evaluated in 13 patients with West syndrome by measuring heart rate variability during 5 min epochs of ECG in wake, stage 2 and slow wave sleep. In 5 patients who developed subsequently another type of epilepsy, a second evaluation was performed after 3 years of follow-up. Results showed a lower heart rate in stage 2 sleep in patients with West syndrome. Spectral components did not show significant differences compared to age matched controls at the moment of presentation. After follow-up of 3 years we were able to demonstrate higher low frequency (LF), lower high frequency (HF) and a higher LF/HF ratio during slow wave sleep. This study shows a lower heart rate in patients presenting with West syndrome, already at the onset of the syndrome and before ACTH treatment. The epileptic encephalopathy is not sufficient to alter spectral components of heart rate at the moment of presentation. However, already after 3 years of epilepsy, chronic autonomic changes appear. Copyright © 2012 Elsevier B.V. All rights reserved.

  19. Vestibular dysfunction in Turner syndrome: a case report.

    Science.gov (United States)

    Baxter, Michael; Agrawal, Yuri

    2014-02-01

    Turner syndrome is a well-known cause of sensorineural hearing loss, and the lack of estrogen has been implicated in cochlear dysfunction. It has never been associated with vestibular dysfunction. We report a case of a patient with Turner syndrome who was found to have bilateral vestibular dysfunction based on video-oculography (VOG) testing. A single patient with a history of Turner syndrome who was found to have significant bilateral vestibular dysfunction. After noticing a deficit in the vestibulo-ocular reflexes on qualitative horizontal head impulse examination, the patient underwent VOG testing. VOG testing quantatively measures angular vestibulo-ocular reflex (AVOR) gain in the horizontal semicircular canal plane. AVOR gain represents the eye movement response to a head movement; in normal individuals the eye movement is fully compensatory and gain values are close to unity. VOG results showed AVOR gains of 0.29 and 0.36 on the right and left sides, respectively. We have presented a case of a woman with Turner syndrome with asymptomatic vestibular dysfunction demonstrated with VOG testing. Although there is a documented relationship between Turner syndrome and sensorineural hearing loss, there are no previous studies or case reports linking Turner syndrome and vestibular dysfunction. Additional research and added vigilance in monitoring Turner syndrome patients may be warranted.

  20. Diagnostics and complex treatment of pain dysfunction syndrome of temporomandibular joint

    Directory of Open Access Journals (Sweden)

    Tlustenko V.P.

    2013-09-01

    Full Text Available Research objective is to increase quality of diagnostics and treatment of patients with a pain dysfunction syndrome of temporomandibular joint by the choice of diagnostic and medical actions. Material and Methods: 172 patients with a syndrome of pain dysfunction of temporomandibular joint have been underthe survey. All patients have been examined according to the scheme including subjective, objective and express methods. Results of the research allowed to reveal that at 30% of patients the syndrome of pain dysfunction of temporomandibular joint has been caused by disk dislocation. Upon termination of the treatment which has been carried out by the scheme, the normalization of relationship of joint elements has been observed. Conclusion: When the diagnosis of syndrome of pain dysfunction of temporomandibular joint is proved, it is necessary to apply complex treatment.

  1. Salivary Gland Dysfunction and Xerostomia in Sjogren's Syndrome

    NARCIS (Netherlands)

    Jensen, Siri Beier; Vissink, Arjan

    In this article, salivary gland dysfunction and xerostomia in Sjogren's syndrome (SS) are discussed, with a focus on the pathophysiology of salivary dysfunction in SS, the clinical presentation of dry mouth in SS, how to assess salivary gland hypofunction and xerostomia in SS, and the impact of

  2. Pattern of Presentation of Multiple Organ Dysfunction Syndrome in ...

    African Journals Online (AJOL)

    Background: Multiple organ dysfunction syndrome is the sequential failure of several organ systems after a trigger event, like sepsis, massive transfusions, burns, trauma and cardiogenic shock. Aim and Objectives- The pattern of presentation of multiple organ dysfunction and the risk factors associated with multiple organ ...

  3. Arthrocentesis For Temporomandibular Joint Pain Dysfunction Syndrome.

    Science.gov (United States)

    Jamot, Shahid Rauf; Khan, Zafar Ali; Khan, Tahir Ullah; Waraich, Riaz Ahmad; Farooq, Muhammad

    2017-01-01

    Temporomandibular joint (TMJ) dysfunction is painful condition of facial musculoskeletal system. Arthrocentesis is less invasive treatment of TMJ dysfunctions. It has been used to treat variety of TMJ disorders. The objective of this study was to determine the success of arthrocentesis in TMJPDS patients where conservative treatment had failed. This descriptive case study of 45 patients was completed in 6 months at Outpatient Department of Oral and Maxillofacial Surgery, Mayo hospital Lahore. TMJPDS Patients who were unresponsive to conservative treatment were included in this study. The study consisted of a single arthrocentesis procedure performed by a single oral surgeon per patient. Visual Analogue Scale was used to record pain while maximum mouth opening was measured by the interincisal distance in millimetres, at 1 month and 2 months after the treatment. Success was measured two months after arthrocentesis. Thirty (66.7%) patients had no pain and 15 (33.3%) patients had mild pain. Similarly, 16 (35.5%) patients had maximum mouth opening more than 30mm and 29 (64.5%) patients had less than 30 mm mouth opening, two months after arthrocentesis procedure. Arthrocentesis is very effective in patients suffering from TMPDS by reducing pain and discomfort and increase in mouth opening. This procedure should be considered in TMPDS patients who do not respond to conservative treatment.

  4. Arthrocentesis for temporomandibular joint pain dysfunction syndrome

    International Nuclear Information System (INIS)

    Jamot, S.R.; Farooq, M.

    2017-01-01

    Temporomandibular joint (TMJ) dysfunction is painful condition of facial musculoskeletal system. Arthrocentesis is less invasive treatment of TMJ dysfunctions. It has been used to treat variety of TMJ disorders. The objective of this study was to determine the success of arthrocentesis in TMJPDS patients where conservative treatment had failed. Methods: This descriptive case study of 45 patients was completed in 6 months at Outpatient Department of Oral and Maxillofacial Surgery, Mayo hospital Lahore. TMJPDS Patients who were unresponsive to conservative treatment were included in this study. The study consisted of a single arthrocentesis procedure performed by a single oral surgeon per patient. Visual Analogue Scale was used to record pain while maximum mouth opening was measured by the interincisal distance in millimetres, at 1 month and 2 months after the treatment. Success was measured two months after arthrocentesis. Results: 30 (66.7%) patients had no pain and 15 (33.3%) patients had mild pain. Similarly, 16 (35.5%) patients had maximum mouth opening more than 30mm and 29 (64.5%) patients had less than 30mm mouth opening, two months after arthrocentesis procedure. Conclusion: Arthrocentesis is very effective in patients suffering from TMPDS by reducing pain and discomfort and increase in mouth opening. This procedure should be considered in TMPDS patients who do not respond to conservative treatment. (author)

  5. Association between dysfunctional elimination syndrome and sensory processing disorder.

    Science.gov (United States)

    Pollock, Mary R; Metz, Alexia E; Barabash, Theresa

    2014-01-01

    OBJECTIVE. We explored whether sensory processing disorder (SPD) is related to dysfunctional elimination syndrome (DES). METHOD. We used the Vancouver Nonneurogenic Lower Urinary Tract Dysfunction/Dysfunctional Elimination Syndrome Questionnaire and the Short Sensory Profile with participants who sought treatment of DES (n = 19) and healthy control participants (n = 55). RESULTS. Significantly more children with DES (53%) had SPD than was reported for the general population (p sensory processing pattern would be an important aspect that could influence the plan of care. Copyright © 2014 by the American Occupational Therapy Association, Inc.

  6. Recent developments in Canine Cognitive Dysfunction Syndrome

    Directory of Open Access Journals (Sweden)

    Alejandro Seisdedos Benzal

    2016-04-01

    Full Text Available Canine Cognitive Dysfunction Syndrome (CCD is a neurodegenerative disease affecting aging dogs. CCD is an underdiagnosed disease that involves at least 14% of geriatric dogs, but apparently less than 2% of diseased dogs are diagnosed. There are several physiopathological similarities between Alzheimer disease (AD and CCD, developing amyloid-β deposits in brain parenchyma and blood vessels, brain atrophy and neuronal loss. The clinical signs lead to behavioural changes. They are unspecific and could appear as soon as seven years of age, but are more relevant in senior dogs. The abnormal behaviour could be classified following the acronym DISHA: Disorientation in the immediate environment; altered Interactions with humans and other animals; Sleep-wake cycle disturbances; House-soiling; and changes in Activity levels. There is no specific diagnostic test or biomarker to demonstrate the presence of CCD; therefore, it is often assessed by ruling out other diseases that may cause similar behavioural changes. Veterinarians have to be able to make an accurate account of veterinary history asking for abnormal behaviour that could be misreported by the owners. CCD is a neurodegenerative disorder that cannot be cured. It is possible to delay the progression of the clinical signs and improve the quality of life of patients, but like in AD, the progression of the illness will depend on the individual. There are three treatment pathways, which could be used in combination: drug therapy to improve cognition and reduce anxiety, antioxidant diet and nutraceutical supplements to reduce the progression of the illness, and finally, environmental enrichment to maintain brain activity. The aim of this review article is to contribute to the knowledge of the illness, presenting recent advances in the pathophysiology, diagnosis and treatment of the disease

  7. 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

  8. CAPGRAS SYNDROME AND ORGANIC BRAIN DYSFUNCTION

    Science.gov (United States)

    Bhatia, M.S.; Agrwal, Pradeep; Malik, S.C.

    1996-01-01

    Capgras Syndrome was described in the late nineteenth century but its exact pathogenesis is still a source of controversy. Some believe its origin is due to psychodynamic factors whereas others have found the evidence of a generalized or localized brain lesion. We report three cases of Capgras Syndrome occurring in association with frontal lobe lesion. PMID:21584123

  9. CAPGRAS SYNDROME AND ORGANIC BRAIN DYSFUNCTION

    OpenAIRE

    Bhatia, M.S.; Agrwal, Pradeep; Malik, S.C.

    1996-01-01

    Capgras Syndrome was described in the late nineteenth century but its exact pathogenesis is still a source of controversy. Some believe its origin is due to psychodynamic factors whereas others have found the evidence of a generalized or localized brain lesion. We report three cases of Capgras Syndrome occurring in association with frontal lobe lesion.

  10. A survey on relative frequency of metabolic syndrome and testosterone deficiency in men with erectile dysfunction.

    Science.gov (United States)

    Hamidi Madani, Ali; Heidarzadeh, Abtin; Akbari Parsa, Niloofar; Khosravi Darestani, Fatemeh; Hamidi Madani, Zahra

    2012-06-01

    Erectile dysfunction (ED) is a common male sexual dysfunction and affects the individual's physical and psychological well-being. It has been classified as organic and psychogenic. Men with low testosterone levels have an increased risk of ED. On the other hand, direct detrimental effect of metabolic syndrome on the endothelium, smooth muscle and nerves of the vascular system of the penis is what causes ED to develop in men with metabolic syndrome. Therefore, it is supposed that a large number of men with erectile dysfunction are patients who have ED, metabolic syndrome and testosterone deficiency as a triad. The aim of this study is determining relative frequencies of metabolic syndrome and testosterone deficiency in a group of men with ED. Men suffering from ED who were referred to a certain private urology clinic between 22.11.2009 and 22.9.2010 were evaluated for metabolic syndrome criteria; their morning free testosterone levels were measured, and then the related questionnaires were filled out. Of 241 men with ED, the relative frequency of metabolic syndrome was 41.5%, of testosterone deficiency was 36.5% and of metabolic syndrome in combination with testosterone deficiency was 19.5%. The relative frequencies of metabolic syndrome and testosterone deficiency in men with ED seem to be significant, and it is the time that we should evaluate ED not as a disease but as a presentation of multiple underlying pathologies which needs medical attention to general health.

  11. Multiple organ dysfunction syndrome associated with Mycoplasma pneumoniae infection

    Directory of Open Access Journals (Sweden)

    Shu-Bo Zhai

    2012-03-01

    Full Text Available In this study, we report one case of a three-year-old boy infected with Mycoplasma pneumonia (MP and presenting concomitant multiple organ damage of the heart, kidney, lung and liver, among others, together with a brief review for the diagnosis and treatment of MP infection with multiple organ dysfunction syndrome (MODS.

  12. Transient left atrial dysfunction is a feature of Takotsubo syndrome

    DEFF Research Database (Denmark)

    Stiermaier, Thomas; Graf, Tobias; Möller, Christian

    2017-01-01

    BACKGROUND: Takotsubo syndrome (TTS) is characterized by a transient left and/or right ventricular dysfunction as a consequence of a distinctive pattern of regional wall motion abnormalities. However, a systematic evaluation of the left atrial (LA) function in patients with TTS is lacking. The ai...

  13. Pelvic floor dysfunction in female Sjögren's syndrome: an 8-year audit.

    Science.gov (United States)

    Budden, Aaron K; Te West, Nèvine I D; Sturgess, Allan D; Moore, Kate H

    2016-09-01

    The classic triad of dry eyes, mouth and vagina is known to most gynaecologists as pathognomonic of Sjögren's syndrome, but rheumatologists seldom consider vaginal symptoms. Our hypothesis was that women with Sjögren's syndrome would have an increased likelihood of postoperative voiding dysfunction, severe vaginal stenosis or poor response to anticholinergics compared with the general urogynaecology patient. All patients with Sjögren's syndrome were prospectively recorded from July 2007 to June 2015. Presenting complaint, pelvic examination findings, previous/subsequent pelvic surgery, voiding dysfunction and response to anticholinergics were noted. The denominator, all new urogynaecology patients, was prospectively recorded. Fifteen patients were identified over 8 years (0.5 % of 2794 new presentations). Of the seven patients who had previously undergone surgery elsewhere, all had demonstrable pelvic tissue fibrosis; five had such severe fibrosis that no speculum could be passed. Anticholinergic medications were completely intolerable in 10/11 (91 %) women, and severe postoperative voiding dysfunction occurred in 6/9 (67 %) women. Only 2/15 (13 %) women were unaffected by fibrosis, postoperative voiding dysfunction or intolerance to anticholinergics. This audit demonstrates a substantial risk of vaginal stenosis, postoperative voiding dysfunction or severe intolerance to anticholinergics in women with Sjögren's syndrome.

  14. Risk factors for canine cognitive dysfunction syndrome in Slovakia.

    Science.gov (United States)

    Katina, Stanislav; Farbakova, Jana; Madari, Aladar; Novak, Michal; Zilka, Norbert

    2016-02-29

    Increasing prevalence of cognitive impairment in an aging canine population poses a serious health problem. Identifying risk factors, which may influence the onset of cognitive decline, is becoming increasingly important. Here we investigated whether age, sex, weight, nutrition, dogs' housing and reproductive state were associated with increased risk of canine cognitive dysfunction syndrome (CCDS) in Slovakia. Age was associated with cognitive decline and nutrition emerged as a significant predictor variable. Dogs fed controlled diets had 2.8 times lower odds of developing CCDS when compared with dogs fed uncontrolled diets. Sex, weight, reproductive state and dogs' housing were not significantly associated with cognitive decline. Further, the prevalence of CCDS was similar in both small and medium/large sized dogs aged 8-11 years, but differed in dogs at an age of 11-13 years. Age was found to be the most prominent risk factors of CCDS. Nutrition may influence the cognitive state of dogs. This finding suggests that nutritional interventions may modify canine cognitive functions.

  15. 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

  16. Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett Syndrome.

    Science.gov (United States)

    Kumar, Ajay; Jaryal, Ashok; Gulati, Sheffali; Chakrabarty, Biswaroop; Singh, Akanksha; Deepak, K K; Pandey, R M; Gupta, Neerja; Sapra, Savita; Kabra, Madhulika; Khajuria, Rajni

    2017-05-01

    Autonomic dysfunction is common in children with Rett syndrome. They usually manifest with agitation, persistent screaming, constipation, gastroesophageal reflux, aerophagia, hyperventilation, and breath-holding episodes. Cardiovascular autonomic dysfunction may result in fatal a arrhythmia. Many of these events are mistaken for seizures and treated with antiepileptics. The present study was conducted in a tertiary care teaching hospital in north India for more than a six month period. MeCP2 mutation positive, 24 cases with Rett syndrome and 24 age-matched healthy girls were evaluated for cardiovascular autonomic dysfunction (heart rate variability, head-up tilt test, and cold pressor test). The mean age was 9.06 years (±3.4) and 9.75 years (±3.13) for patients and control subjects, respectively. The heart rate variability contributed independently by parasympathetic and sympathetic nervous system was significantly reduced in cases compared with control subjects (P = 0.033 and P = 0.001, respectively). There was significant sympathovagal imbalance with sympathetic overactivity in cases compared with control subjects (P = 0.001). The mean longest QT c interval was significantly prolonged in cases compared with control subjects (P = 0.001). Cold pressor test and head-up tilt test could be done in 16 Rett syndrome patients (because of poor cooperation) and in all 24 control subjects. The change in blood pressure during cold pressor test and head-up tilt test was not significantly different in cases and control subjects. Children with Rett syndrome exhibited significant cardiovascular autonomic dysfunction in the form of sympathetic overactivity, parasympathetic underactivity, and sympathovagal imbalance. These findings have potentially important therapeutic- and outcome-related implications. Copyright © 2017. Published by Elsevier Inc.

  17. Temporomandibular joint disfunction syndrome and myofascial pain dysfunction syndrome: a critical review.

    Science.gov (United States)

    Moss, R A; Garrett, J C

    1984-01-01

    Temporomandibular joint (TMJ) dysfunction syndrome and myofascial pain dysfunction (MPD) syndrome have been primarily viewed as dental problems and have only recently received close attention by psychologists. The literature reviewed in the present paper reveals that a substantial portion of the population is affected by these disorders. There is, however, a great deal of confusion that exists in relation to the aetiology and treatment of these syndromes. In an attempt to clarify the current understanding of these disorders, the present review first presents a discussion of the symptoms which comprise each of these syndromes and the proposed physiological mechanisms associated with each symptom. Next, the aetiological theories for each of these syndromes are reviewed and critically evaluated. Treatments which have been derived from the theoretical models are then discussed. Finally, methodological considerations involving classification, assessment and treatment issues are presented and future research needs are outlined.

  18. The Temporomandibular Joint Pain Dysfunction Syndrome

    OpenAIRE

    Speck, John E.

    1988-01-01

    When a patient complains of headache, neckache, or earache and these are associated with noisy temporomandibular joint function, restricted opening or increased pain when chewing, a temporomandibular joint or masticatory muscle disorder should be considered in the differential diagnosis, because signs and symptoms of these disorders are common in all age groups. This article indicates the more common etiological contributions, that is, microtrauma, repeated microtrauma, muscle hyperactivity, ...

  19. Sexual Dysfunction in Patients with Polycystic Ovary Syndrome in Malaysia.

    Science.gov (United States)

    Dashti, Sareh; Latiff, Latiffah A; Hamid, Habibah Abdul; Sani, Suriani Mohamad; Akhtari-Zavare, Mehrnoosh; Abu Bakar, Azrin Shah; Binti Sabri, Nur Amirah Inani; Ismail, Maimunah; Esfehani, Ali Jafarzadeh

    2016-01-01

    Polycystic ovary syndrome (PCOS) is a combination of chronic anovulation, obesity, and hyperandrogenism and can affect sexual function in women of reproductive age. It is also associated with endometrial cancer. Our aim was to evaluate the frequency and predisposing factors of sexual dysfunction in PCOS patients. In this cross-sectional study, 16 married women with a definite diagnosis of PCOS were recruited. Sexual function was assessed in the domains of desire, arousal, lubrication, orgasm, satisfaction and pain using the female sexual function index (FSFI) questionnaire. Patients were also assessed for mental health using the depression, anxiety and stress (DASS-21) questionnaire. Presence of hirsutism was assessed using the Ferriman-Gallwey (FG) scoring system. Demographic data were obtained from patients during in-person interview. Sexual dysfunction was present in 62.5% of patients with the domains of arousal and lubrication particularly affected (93.8% and 87.5%, respectively). Patients with symptoms of depression and anxiety were significantly more likely to suffer sexual dysfunction than those without these symptoms (p=0.04 and p=0.03 respectively). Patients with stress symptoms reported higher orgasm dysfunction than those without (p=0.02). No significant difference in any of the FSFI score domains was observed between patients with and without hirsutism. PCOS patients markedly suffer from sexual dysfunction and therefore it seems appropriate to be screened for intervention. Poor mental health conditions that may be the result of infertility or other complications of PCOS should also be considered as curable causes of sexual dysfunction in these patients.

  20. Acute psychosocial stress does not increase dysfunctional attitudes.

    Science.gov (United States)

    Yeoh, Su Ying; Wilkinson, Paul

    2014-11-01

    Dysfunctional attitudes about oneself, the world and the future, measured quantitatively by Weissman's Dysfunctional Attitudes Scale (DAS), are thought to influence the onset and persistence of major depressive disorder. However, never-depressed individuals may also harbour latent negative schema which may become activated under stressful conditions, giving rise to dysfunctional negative cognitions. This study investigated whether everyday psychosocial stresses could be sufficient to activate dysfunctional self-schema and increase negative cognitions in a large group of healthy adolescents and a preliminary cohort of previously depressed adolescents. 92 never-depressed adolescents aged 17-19 and 18 previously depressed adolescents, recruited from the Cambridge ROOTS cohort, took either version A or B of the DAS at rest on day 1. On day 2, they were subjected to the Trier Social Stress Test, a psychosocial stress paradigm, 22 minutes after which they took the other version of DAS. Stress did not affect the DAS score in either group. Brief psychosocial stress does not appear to influence negative assumptions in healthy young adults with or without a past history of depression. It is possible that this is because dysfunctional assumptions, unlike self-schemas, are not latent. More long-term stresses may be needed to activate negative thoughts to a level where risk of depression is increased.

  1. Temporomandibular dysfunction syndrome associated with scuba diving mouthpieces.

    Science.gov (United States)

    Hobson, R S

    1991-01-01

    As previous reports have highlighted that temporomandibular joint dysfunction syndrome can occur during scuba diving due to the use of a diving mouthpiece, 74 divers of varied experience (62 male, 12 female) were asked to evaluate the efficiency of the mouthpiece for the ease of grip, insertion into the mouth, clearing of water, air sharing, comfort and overall efficiency. They also recorded the level of muscle and joint discomfort experienced during diving and non-diving activities. The results indicate that temporomandibular joint problems unrelated to diving are compounded by the use of a diving mouthpiece. The diver's assessment of muscle tension and comfort while using the mouthpiece was found to be a good predictor of whether temporomandibular dysfunction would occur and the assessment scores have been used in a formula to aid selection of a mouthpiece. PMID:1913032

  2. Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype

    Directory of Open Access Journals (Sweden)

    Aurore Morel

    2018-05-01

    Full Text Available Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11.2 deletion syndrome, Angelman syndrome, Fragile X syndrome, Klinefelter syndrome, Prader–Willi syndrome, Rett syndrome, Smith–Magenis syndrome, Turner syndrome, and Williams syndrome and shed some light on the specific mechanisms that may underlie these skills in each clinical presentation. We first detail the different processes included in the generic expression “social cognition” before summarizing the genotype, psychiatric phenotype, and non-social cognitive profile in each syndrome. Then, we offer a systematic review of the social cognitive abilities and the disturbed mechanisms they are likely associated with. We followed the PRISMA process, including the definition of the relevant search terms, the selection of studies based on clear inclusion, and exclusion criteria and the quality appraisal of papers. We finally provide insights that may have considerable influence on the development of adapted therapeutic interventions such as social cognitive training (SCT therapies specifically designed to target the psychiatric phenotype. The results of this review suggest that social cognition impairments share some similarities across syndromes. We propose that social cognitive impairments are strongly involved in behavioral symptoms regardless of the overall cognitive level measured by intelligence quotient. Better understanding the mechanisms underlying impaired social cognition may lead to adapt

  3. Mitochondrial dysfunction in DDR-related cancer predisposition syndromes.

    Science.gov (United States)

    Lyakhovich, Alex; Graifer, Dmitry; Stefanovie, Barbora; Krejci, Lumir

    2016-04-01

    Given the key role of mitochondria in various cellular events, it is not surprising that mitochondrial dysfunction (MDF) is seen in many pathological conditions, in particular cancer. The mechanisms defining MDF are not clearly understood and may involve genetic defects, misbalance of reactive oxygen species (ROS), impaired autophagy (mitophagy), acquired mutations in mitochondrial or nuclear DNA and inability of cells to cope with the consequences. The importance of MDF arises from its detection in the syndromes with defective DNA damage response (DDR) and cancer predisposition. Here, we will focus on the dual role of these syndromes in cancer predisposition and MDF with specific emphasis on impaired autophagy. Copyright © 2016 Elsevier B.V. All rights reserved.

  4. The effect of fatigue and fibromyalgia on sexual dysfunction in women with chronic fatigue syndrome.

    Science.gov (United States)

    Blazquez, Alicia; Ruiz, Eva; Aliste, Luisa; García-Quintana, Ana; Alegre, José

    2015-01-01

    Sexual dysfunction in patients with chronic fatigue syndrome is attracting growing interest but, to date, few studies have analyzed it. For this reason, the authors evaluated sexual dysfunction in women with chronic fatigue syndrome (using the Golombok Rust Inventory of Sexual Satisfaction) and explore correlations with fatigue and other symptoms. Sexual dysfunction was greater in patients with chronic fatigue syndrome (n = 615) with a higher number of cognitive, neurological, and neurovegetative symptoms, concomitant fibromyalgia, Sjögren's syndrome, or myofascial pain syndrome, and more intense fatigue (p <.05).

  5. A review of treatment approaches of Myofascial Pain Dysfunction Syndrome

    Directory of Open Access Journals (Sweden)

    Arash Mansuorian

    2017-03-01

    Full Text Available Masticatory muscle pain is the second most frequent cause of orofacial pain after dental pain. Myofascial pain dysfunction syndrome (MPDS is the most common form of temporomandibular joint dysfunction. MPDS is a pain that triggers from [sensitive] points in the muscles and fascia and is followed by spasm, tenderness to palpation, restricted movement, fatigue, and sometimes dysfunction. The researchers intended to collect comprehensive information about therapeutic interventions for myofascial pain through the conduction of a critical study based on evidence in the literature. In this review, 51 English articles, published between 1981 and 2013, were extracted from PubMed, Medline, Ovid, and Google Scholar. These articles were then reviewed in detail in two categories, namely pharmaceutical and non-pharmaceutical treatments. MPDS treatment should be first focused on the identification and correction of underlying causes. Thiocolchicoside (TCC, non-steroidal anti-inflammatory drugs (NSAIDs, and Cox-2 inhibitors are among promising pharmaceutical methods. On the other hand, ultrasound and laser therapy are among promising non-pharmaceutical methods. The complex mechanism of MPDS, along with its underlying peripheral and central nervous mechanisms may make MPDS, difficult to treat, especially in its chronic form.

  6. Vascular risk factors and adipocyte dysfunction in metabolic syndrome

    NARCIS (Netherlands)

    Hajer, G.R.

    2008-01-01

    The cluster of vascular risk factors closely associated with obesity, consists of fasting and postprandial dyslipidemia, hypertension, and insulin resistance, also known as metabolic syndrome, is associated with an increased cardiovascular morbidity and mortality. In addition, adipose tissue in

  7. Leydig cell dysfunction, systemic inflammation and metabolic syndrome in long-term testicular cancer survivors

    DEFF Research Database (Denmark)

    Bandak, M; Jørgensen, N; Juul, A

    2017-01-01

    BACKGROUND: Twenty to thirty percent of testicular cancer (TC) survivors have elevated serum levels of luteinising hormone (LH) with or without corresponding low testosterone levels (Leydig cell dysfunction) during clinical follow-up for TC. However, it remains to be clarified if this subgroup...... of TC survivors has an increased long-term risk of systemic inflammation and metabolic syndrome (MetS) when compared with TC survivors with normal Leydig cell function during follow-up. PATIENTS AND METHODS: TC survivors with Leydig cell dysfunction and a control group of TC survivors with normal Leydig...... cell function during follow-up were eligible for participation in the study. Markers of systemic inflammation and prevalence of MetS were compared between TC survivors with Leydig cell dysfunction and the control group. RESULTS: Of 158 included TC survivors, 28 (18%) had uncompensated Leydig cell...

  8. Increased Nitroxidative Stress Promotes Mitochondrial Dysfunction in Alcoholic and Nonalcoholic Fatty Liver Disease

    Directory of Open Access Journals (Sweden)

    Byoung-Joon Song

    2013-01-01

    Full Text Available Increased nitroxidative stress causes mitochondrial dysfunctions through oxidative modifications of mitochondrial DNA, lipids, and proteins. Persistent mitochondrial dysfunction sensitizes the target cells/organs to other pathological risk factors and thus ultimately contributes to the development of more severe disease states in alcoholic and nonalcoholic fatty liver disease. The incidences of nonalcoholic fatty liver disease continuously increase due to high prevalence of metabolic syndrome including hyperlipidemia, hypercholesterolemia, obesity, insulin resistance, and diabetes. Many mitochondrial proteins including the enzymes involved in fat oxidation and energy supply could be oxidatively modified (including S-nitrosylation/nitration under increased nitroxidative stress and thus inactivated, leading to increased fat accumulation and ATP depletion. To demonstrate the underlying mechanism(s of mitochondrial dysfunction, we employed a redox proteomics approach using biotin-N-maleimide (biotin-NM as a sensitive biotin-switch probe to identify oxidized Cys residues of mitochondrial proteins in the experimental models of alcoholic and acute liver disease. The aims of this paper are to briefly describe the mechanisms, functional consequences, and detection methods of mitochondrial dysfunction. We also describe advantages and limitations of the Cys-targeted redox proteomics method with alternative approaches. Finally, we discuss various applications of this method in studying oxidatively modified mitochondrial proteins in extrahepatic tissues or different subcellular organelles and translational research.

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

    Directory of Open Access Journals (Sweden)

    Françoise Bachelerie

    2010-01-01

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

  10. A multidisciplinary approach to treating musculoarticular dysfunction of the temporomandibular joint with obvious pain syndrome

    Directory of Open Access Journals (Sweden)

    O. A. Shakhmetova

    2017-01-01

    Full Text Available Objective: to investigate the efficiency of an integrated approach to treating craniomandibular dysfunction, by changing the biomechanical tempomandibular joint (TMJ movement pattern via botulinum toxin type A injection into the masticatory muscles.Patients and methods. The investigation enrolled 20 patients aged 18-45 years with clinical signs of muscular-articular dysfunction of the TMJ. Before and after treatment, all the patients underwent magnetic resonance imaging of the TMJ and masticatory muscles, as well as ultrasonography and surface electromyography (EMG of the masticatory muscles.Results. There was a significant reduction in pain syndrome, an improvement in the relationship of intra-articular TMJ elements, and a change in the structure of the masticatory muscles. The EMG indices were near-normal. Four-six months after treatment, the majority of patients showed an increase in the amplitude of mouth opening (95%, reductions in resting pain (85% and in the frequency of TMJ clicking (90%.Conclusion. The management of patients with severe chronic pain syndrome in the presence of muscular-articular dysfunction of the TMJ requires the participation of an orthodontist to correct malocclusion and a neurologist to treat local myofascial pain syndrome

  11. Kidney Dysfunction Mediates Salt-Induced Increases in Blood Pressure

    Science.gov (United States)

    Hall, John E.

    2016-01-01

    Chronic excess salt intake increases the risk for hypertension and moderation of salt intake is an important strategy for prevention of cardiovascular and kidney disease, especially in salt-sensitive subjects. Although short-term blood pressure (BP) responses to high salt intake over several days are highly variable, chronic high salt intake worsens BP salt-sensitivity. Aging, diabetes, hypertension, and various acquired and genetic kidney disorders also exacerbate salt-sensitivity of BP. Kidney dysfunction, characterized by impaired pressure natriuresis, has been demonstrated in all forms of experimental and human genetic or acquired salt-sensitive hypertension studied thus far. Abnormalities of kidney function that directly or indirectly increase NaCl reabsorption, decrease glomerular capillary filtration coefficient, or cause nephron injury/loss exacerbate BP salt-sensitivity. In most cases, salt-sensitive hypertension is effectively treated with drugs that increase glomerular filtration rate or reduce renal NaCl reabsorption (e.g. diuretics, renin-angiotensin-aldosterone system blockers). Increased vascular resistance may occur concomitantly or secondarily to kidney dysfunction and increased BP in salt-sensitive hypertension. However, primary increases in non-renal vascular resistance have not been shown to cause salt-sensitive hypertension or long-term changes in BP in the absence of impaired renal-pressure natriuresis. The mechanisms responsible for increased total peripheral resistance (TPR) during high salt intake in salt-sensitive subjects are not fully understood but likely involve pressure-dependent and/or flow-dependent autoregulation in peripheral tissues as well as neurohormonal factors that occur concomitantly with kidney dysfunction. Physiological studies have demonstrated that increased BP almost invariably initiates secondary pressure-dependent functional and structural vascular changes that increase TPR. PMID:26927007

  12. Increasing Prevalence of Metabolic Syndrome in Korea

    OpenAIRE

    Lim, Soo; Shin, Hayley; Song, Jung Han; Kwak, Soo Heon; Kang, Seon Mee; Won Yoon, Ji; Choi, Sung Hee; Cho, Sung Il; Park, Kyong Soo; Lee, Hong Kyu; Jang, Hak Chul; Koh, Kwang Kon

    2011-01-01

    OBJECTIVE The number of people with metabolic syndrome is increasing worldwide, and changes in socioenvironmental factors contribute to this increase. Therefore, investigation of changes in metabolic syndrome and its components in South Korea, where rapid socioenvironmental changes have occurred in recent years, would be foundational in setting up an effective strategy for reducing this increasing trend. RESEARCH DESIGN AND METHODS We compared the prevalence and pattern of metabolic syndrome ...

  13. Treatment of urinary voiding dysfunction syndromes with spinal cord stimulation.

    Science.gov (United States)

    Yakovlev, Alexander E; Resch, Beth E

    2010-03-01

    This case report presents the use of spinal cord stimulation (SCS) in a patient with urinary incontinence who had previously undergone trial and implantation of InterStim therapy (Medtronic Neurological, Minneapolis, MN). The patient also experienced bilateral lower extremity pain and low back pain related to post-laminectomy syndrome. Having failed all conservative treatment, the patient underwent SCS trial and subsequent implantation. In the postoperative period using SCS therapy, the patient had excellent relief of urinary incontinence symptoms, along with relief of low back pain and bilateral lower extremity pain and was able to discontinue use of InterStim therapy. For this patient, SCS was effective in controlling the urinary voiding dysfunction symptoms, bilateral lower extremity pain and back pain. The use of SCS to treat urinary incontinence problems deserves further study to explore its therapeutic potentials.

  14. Leydig cell dysfunction, systemic inflammation and metabolic syndrome in long-term testicular cancer survivors.

    Science.gov (United States)

    Bandak, M; Jørgensen, N; Juul, A; Lauritsen, J; Oturai, P S; Mortensen, J; Hojman, P; Helge, J W; Daugaard, G

    2017-10-01

    Twenty to thirty percent of testicular cancer (TC) survivors have elevated serum levels of luteinising hormone (LH) with or without corresponding low testosterone levels (Leydig cell dysfunction) during clinical follow-up for TC. However, it remains to be clarified if this subgroup of TC survivors has an increased long-term risk of systemic inflammation and metabolic syndrome (MetS) when compared with TC survivors with normal Leydig cell function during follow-up. TC survivors with Leydig cell dysfunction and a control group of TC survivors with normal Leydig cell function during follow-up were eligible for participation in the study. Markers of systemic inflammation and prevalence of MetS were compared between TC survivors with Leydig cell dysfunction and the control group. Of 158 included TC survivors, 28 (18%) had uncompensated Leydig cell dysfunction, 59 (37%) had compensated Leydig cell dysfunction and 71 (45%) had normal Leydig cell function during follow-up. MetS and markers of systemic inflammation were evaluated at a median follow-up of 9.7 years (interquartile range 4.1-17.1) after TC treatment. The prevalence of MetS was significantly lower among patients with compensated Leydig cell dysfunction during follow-up (12% versus 27%, p = 0.04), whereas there was no difference between TC survivors with uncompensated Leydig cell dysfunction and controls (33% versus 27%, p = 0.5). Apart from high-sensitivity C-reactive protein which was higher in TC survivors with uncompensated Leydig cell dysfunction during follow-up, there was no evidence of increased systemic inflammation in patients with Leydig cell dysfunction during clinical follow-up. Total testosterone at follow-up was significantly associated with MetS, whereas there was no association between LH and MetS. We did not find evidence that TC survivors with Leydig cell dysfunction during clinical follow-up had increased long-term risk of MetS. Total testosterone at follow-up was significantly associated

  15. Dysfunctional parenting styles increase interpersonal sensitivity in healthy subjects.

    Science.gov (United States)

    Otani, Koichi; Suzuki, Akihito; Shibuya, Naoshi; Matsumoto, Yoshihiko; Kamata, Mitsuhiro

    2009-12-01

    The effects of dysfunctional parenting styles on interpersonal sensitivity were studied in 640 Japanese volunteers. Interpersonal sensitivity was assessed by the Interpersonal Sensitivity Measure (IPSM), and perceived parental rearing was evaluated by the Parental Bonding Instrument (PBI), which is consisted of care and protection factors. Parental rearing was classified into 4 types, i.e., optimal parenting (high care/low protection), affectionate constraint (high care/high protection), neglectful parenting (low care/low protection), and affectionless control (low care/high protection). Males with paternal affectionless control showed higher total IPSM scores than those with paternal optimal parenting (p = 0.022). Females with maternal affectionate constraint (p = 0.001), neglectful parenting (p = 0.022), and affectionless control (p = 0.003) showed higher total IPSM scores than those with maternal optimal parenting. In males and females, dysfunctional parenting styles by the opposite-sex parents did not affected total IPSM scores. The present study suggests that in both males and females interpersonal sensitivity is increased by dysfunctional parenting styles by the same-sex parents.

  16. Pulmonary dysfunction and hepatopulmonary syndrome in cirrhosis and portal hypertension

    DEFF Research Database (Denmark)

    Møller, Søren; Krag, Aleksander; Madsen, Jan L

    2009-01-01

    gradient (AaPO(2)) and peripheral transcutaneous oxygen tension (tcPO(2)). RESULTS: The prevalence of HPS was 10%. PaO(2) and DLCO were reduced in 32 and 72% and AaPO(2), was increased in 60% of the patients respectively. DLCO correlated with indicators of liver dysfunction (galactose elimination capacity......, PPO(2), tcPO(2) and heart rate were abnormal in the patients compared...

  17. Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila.

    Science.gov (United States)

    Sakakibara, Yasufumi; Sekiya, Michiko; Fujisaki, Naoki; Quan, Xiuming; Iijima, Koichi M

    2018-01-01

    Wolfram syndrome (WS), caused by loss-of-function mutations in the Wolfram syndrome 1 gene (WFS1), is characterized by juvenile-onset diabetes mellitus, bilateral optic atrophy, and a wide spectrum of neurological and psychiatric manifestations. WFS1 encodes an endoplasmic reticulum (ER)-resident transmembrane protein, and mutations in this gene lead to pancreatic β-cell death induced by high levels of ER stress. However, the mechanisms underlying neurodegeneration caused by WFS1 deficiency remain elusive. Here, we investigated the role of WFS1 in the maintenance of neuronal integrity in vivo by knocking down the expression of wfs1, the Drosophila homolog of WFS1, in the central nervous system. Neuronal knockdown of wfs1 caused age-dependent behavioral deficits and neurodegeneration in the fly brain. Knockdown of wfs1 in neurons and glial cells resulted in premature death and significantly exacerbated behavioral deficits in flies, suggesting that wfs1 has important functions in both cell types. Although wfs1 knockdown alone did not promote ER stress, it increased the susceptibility to oxidative stress-, excitotoxicity- or tauopathy-induced behavioral deficits, and neurodegeneration. The glutamate release inhibitor riluzole significantly suppressed premature death phenotypes induced by neuronal and glial knockdown of wfs1. This study highlights the protective role of wfs1 against age-associated neurodegeneration and furthers our understanding of potential disease-modifying factors that determine susceptibility and resilience to age-associated neurodegenerative diseases.

  18. Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila.

    Directory of Open Access Journals (Sweden)

    Yasufumi Sakakibara

    2018-01-01

    Full Text Available Wolfram syndrome (WS, caused by loss-of-function mutations in the Wolfram syndrome 1 gene (WFS1, is characterized by juvenile-onset diabetes mellitus, bilateral optic atrophy, and a wide spectrum of neurological and psychiatric manifestations. WFS1 encodes an endoplasmic reticulum (ER-resident transmembrane protein, and mutations in this gene lead to pancreatic β-cell death induced by high levels of ER stress. However, the mechanisms underlying neurodegeneration caused by WFS1 deficiency remain elusive. Here, we investigated the role of WFS1 in the maintenance of neuronal integrity in vivo by knocking down the expression of wfs1, the Drosophila homolog of WFS1, in the central nervous system. Neuronal knockdown of wfs1 caused age-dependent behavioral deficits and neurodegeneration in the fly brain. Knockdown of wfs1 in neurons and glial cells resulted in premature death and significantly exacerbated behavioral deficits in flies, suggesting that wfs1 has important functions in both cell types. Although wfs1 knockdown alone did not promote ER stress, it increased the susceptibility to oxidative stress-, excitotoxicity- or tauopathy-induced behavioral deficits, and neurodegeneration. The glutamate release inhibitor riluzole significantly suppressed premature death phenotypes induced by neuronal and glial knockdown of wfs1. This study highlights the protective role of wfs1 against age-associated neurodegeneration and furthers our understanding of potential disease-modifying factors that determine susceptibility and resilience to age-associated neurodegenerative diseases.

  19. MORE for multiple organ dysfunction syndrome: Multiple Organ REanimation, REgeneration, and REprogramming.

    Science.gov (United States)

    Cobb, J Perren

    2010-11-01

    Those who care for the critically ill and injured rightfully celebrate the advances made by our field over its first 50 yrs. Advances in systems, tissue, and molecular engineering, together defined as "health engineering," will provide unprecedented opportunities to treat multiple organ dysfunction syndrome in the 21st century. In the future, Multiple Organ REanimation, REgeneration, and REprogramming will be responsible for new treatment approaches for those with multiple organ dysfunction syndrome; several examples are presented here. Thus, as we spent the first 50 yrs of care for the critical ill and injured learning how best to hook humans up to machines, we will spend the next 50 yrs understanding better how to liberate patients from mechanical support. It is difficult to know when these advances will be realized given that the rate of change continues to increase and the seemingly impossible goal of reprogramming fully differentiated cells was accomplished recently by manipulating a few transcription factors. It is not unrealistic to expect that in the next couple of decades that it will be possible to dedifferentiate dysfunctional somatic cells in vivo to a more robust, resistant cell phenotype. Our future should be aimed in part at refining our skill sets and refocusing (even rebranding) critical care as health engineering aimed at Multiple Organ REanimation, REgeneration, and REprogramming.

  20. [Lower urinary tract dysfunction in Guillain-Barre syndrome].

    Science.gov (United States)

    Reitz, A; Mohr, M; Leistner, N; Tabaza, R; Anding, R; Brehmer, B; Kirschner-Hermanns, R

    2018-02-01

    Guillain-Barré syndrome (GBS) as acute inflammatory demyelinating polyradiculoneuropathy frequently leads to lower urinary tract dysfunction. The available knowledge in the medical literature is limited and good recommendations for diagnosis and therapy are rare. In this study, 189 patients with GBS were screened for lower urinary tract dysfunction. In symptomatic patients, a urodynamic study was performed. Detrusor contractility, post-void residual, and changes of the symptoms over time were studied. Overall Barthel index and urinary control Barthel index as well as the relationship of time after onset of the disease and post-void residual were studied as possible screening criteria for urodynamic assessment. According to the urinary control Barthel index (BI), 115 of 189 patients (61%) presented lower urinary tract symptoms sometime during the course of disease. In 28 patients, these symptoms were temporary during the acute phase. At the time of urological assessment, 87 patients had lower urinary tract symptoms. At the end of rehabilitation, 37 had no symptoms anymore (BI 10), 20 were able to control micturition to a certain extent (BI 5), and 30 had no lower urinary tract control (BI 0). There was a significant negative correlation between post-void residual volume and overall BI (ρ -0.5823, p < 0.0001) and BI for urinary tract control (ρ -0.6430, p < 0.0001). Overall BI and BI for urinary tract control are suitable screening criteria for urodynamic assessment.

  1. Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients.

    Science.gov (United States)

    Barboni, Mirella Telles Salgueiro; Bueno, Clarissa; Nagy, Balázs Vince; Maia, Patrícia Lobo; Vidal, Kallene Summer Moreira; Alves, Rosana Cardoso; Reiter, Russel J; do Amaral, Fernanda Gaspar; Cipolla-Neto, José; Ventura, Dora Fix

    2018-01-01

    Smith-Magenis syndrome (SMS) causes sleep disturbance that is related to an abnormal melatonin profile. It is not clear how the genomic disorder leads to a disturbed synchronization of the sleep/wake rhythm in SMS patients. To evaluate the integrity of the intrinsically photosensitive retinal ganglion cell (ipRGC)/melanopsin system, the transducers of the light-inhibitory effect on pineal melatonin synthesis, we recorded pupillary light responses (PLR) in SMS patients. Subjects were SMS patients (n = 5), with molecular diagnosis and melatonin levels measured for 24 hours and healthy controls (n = 4). Visual stimuli were 1-second red light flashes (640 nm; insignificant direct ipRGC activation), followed by a 470-nm blue light, near the melanopsin peak absorption region (direct ipRGC activation). Blue flashes produce a sustained pupillary constriction (ipRGC driven) followed by baseline return, while red flashes produce faster recovery. Pupillary light responses to 640-nm red flash were normal in SMS patients. In response to 470-nm blue flash, SMS patients had altered sustained responses shown by faster recovery to baseline. SMS patients showed impairment in the expected melatonin production suppression during the day, confirming previous reports. SMS patients show dysfunction in the sustained component of the PLR to blue light. It could explain their well-known abnormal melatonin profile and elevated circulating melatonin levels during the day. Synchronization of daily melatonin profile and its photoinhibition are dependent on the activation of melanopsin. This retinal dysfunction might be related to a deficit in melanopsin-based photoreception, but a deficit in rod function is also possible.

  2. Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome

    DEFF Research Database (Denmark)

    Moller, Hans Ulrik; Fledelius, Hans C; Milewicz, Dianna M

    2012-01-01

    A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth....

  3. Progression of cardiovascular autonomic dysfunction in Holmes-Adie syndrome.

    Science.gov (United States)

    Guaraldi, P; Mathias, C J

    2011-09-01

    The Holmes-Adie Syndrome (HAS) is a disorder of unknown aetiology comprising unilateral or bilateral tonic pupils with near light dissociation and tendon areflexia. Although considered to be benign, troublesome symptoms may result from autonomic disturbances, affecting vasomotor, sudomotor and respiratory function. It is unclear if the autonomic manifestations of the disease remain stable or progress, as longitudinal studies with detailed autonomic assessments have not been described. The authors report four HAS patients studied at intervals over 16, 8, 4 and 2 years with cardiovascular autonomic tests (head-up tilt, isometric exercise, mental arithmetic, cutaneous cold, deep breathing, Valsalva manoeuvre and standing). In each, there was progression of cardiovascular autonomic deficits with time, accompanied by symptomatic worsening. These observations in HAS, for the first time, indicate progression of cardiovascular autonomic dysfunction of clinical significance. This has a number of implications, including those relating to aetiology and prognosis. The authors recommend regular clinical and laboratory follow-up, especially of cardiovascular autonomic function, in patients with HAS.

  4. Temporomandibular dysfunction syndrome: a prospective study of 255 consecutive patients.

    Science.gov (United States)

    Uçar, Demet; Dıraçoğlu, Demirhan; Karan, Ayşe

    2013-06-01

    To determine the relationship between temporomandibular dysfunction syndrome (TMDS), sex and pain severity. Data were collected prospectively from consecutive patients with TMDS. Patients were divided into four subgroups according to signs and symptoms: myofascial pain; intra-articular disorders; extra-articular disorders; degenerative disorders. Intergroup sex distribution differences were evaluated, the pain severity between the four subgroups was compared, and the rates of bruxism and inco-ordination were measured. A visual analogue scale was used to rate the pain. A total of 255 patients with TMDS were included in the study. A significantly higher rate of extra-articular disorders was found in male patients. Bruxism was found to be significantly more common in females than in males. There was no significant difference in the prevalence of inco-ordination based on sex. The overall pain score was higher in females than in males, but there was no significant difference. The pain score was significantly higher in patients in the degenerative disorders subgroup, compared with other subgroups. There was no relationship between TMDS and pain and sex. Pain scores were significantly higher in the degenerative disorders subgroup, compared with other subgroups.

  5. How to overcome surfactant dysfunction in meconium aspiration syndrome?

    Science.gov (United States)

    Mokra, Daniela; Calkovska, Andrea

    2013-06-01

    Surfactant dysfunction in meconium aspiration syndrome (MAS) is caused by meconium components, by plasma proteins leaking through the injured alveolocapillary membrane and by substances originated in meconium-induced inflammation. Surfactant inactivation in MAS may be diminished by several ways. Firstly, aspirated meconium should be removed from the lungs to decrease concentrations of meconium inhibitors coming into the contact with surfactant in the alveolar compartment. Once the endogenous surfactant becomes inactivated, components of surfactant should be substituted by exogenous surfactant at a sufficient dose, and surfactant administration should be repeated, if oxygenation remains compromised. To delay the inactivation by inhibitors, exogenous surfactants may be enriched with surfactant proteins, phospholipids, or other substances such as polymers. Finally, to diminish an adverse action of products of meconium-induced inflammation on both endogenous and exogenously delivered surfactant, anti-inflammatory drugs may be administered. A combined therapeutic approach may result in better outcome in patients with MAS and in lower costs of treatment. Copyright © 2013. Published by Elsevier B.V.

  6. Salivary gland dysfunction and xerostomia in Sjögren's syndrome

    DEFF Research Database (Denmark)

    Jensen, Siri Beier; Vissink, Arjan

    2014-01-01

    In this article, salivary gland dysfunction and xerostomia in Sjögren's syndrome (SS) are discussed, with a focus on the pathophysiology of salivary dysfunction in SS, the clinical presentation of dry mouth in SS, how to assess salivary gland hypofunction and xerostomia in SS, and the impact...

  7. Stressful life events and psychological dysfunction in complex regional pain syndrome type I

    NARCIS (Netherlands)

    Geertzen, JHB; de Bruijn-Kofman, AT; de Bruijn, HP; van de Wiel, HBM; Dijkstra, PU

    Objective: To determine to what extent stressful life events and psychological dysfunction play a role in the pathogenesis of Complex Regional Pain Syndrome type I (CRPS). Design: A comparative study between a CRPS group and a control group. Stressful life events and psychological dysfunction

  8. Carbon monoxide inhalation increases microparticles causing vascular and CNS dysfunction

    International Nuclear Information System (INIS)

    Xu, Jiajun; Yang, Ming; Kosterin, Paul; Salzberg, Brian M.; Milovanova, Tatyana N.; Bhopale, Veena M.; Thom, Stephen R.

    2013-01-01

    We hypothesized that circulating microparticles (MPs) play a role in pro-inflammatory effects associated with carbon monoxide (CO) inhalation. Mice exposed for 1 h to 100 ppm CO or more exhibit increases in circulating MPs derived from a variety of vascular cells as well as neutrophil activation. Tissue injury was quantified as 2000 kDa dextran leakage from vessels and as neutrophil sequestration in the brain and skeletal muscle; and central nervous system nerve dysfunction was documented as broadening of the neurohypophysial action potential (AP). Indices of injury occurred following exposures to 1000 ppm for 1 h or to 1000 ppm for 40 min followed by 3000 ppm for 20 min. MPs were implicated in causing injuries because infusing the surfactant MP lytic agent, polyethylene glycol telomere B (PEGtB) abrogated elevations in MPs, vascular leak, neutrophil sequestration and AP prolongation. These manifestations of tissue injury also did not occur in mice lacking myeloperoxidase. Vascular leakage and AP prolongation were produced in naïve mice infused with MPs that had been obtained from CO poisoned mice, but this did not occur with MPs obtained from control mice. We conclude that CO poisoning triggers elevations of MPs that activate neutrophils which subsequently cause tissue injuries. - Highlights: • Circulating microparticles (MPs) increase in mice exposed to 100 ppm CO or more. • MPs are lysed by infusing the surfactant polyethylene glycol telomere B. • CO-induced MPs cause neutrophil activation, vascular leak and CNS dysfunction. • Similar tissue injuries do not arise with MPs obtained from air-exposed, control mice

  9. Carbon monoxide inhalation increases microparticles causing vascular and CNS dysfunction

    Energy Technology Data Exchange (ETDEWEB)

    Xu, Jiajun; Yang, Ming [Department of Emergency Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104 (United States); Kosterin, Paul [Department of Neuroscience, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104 (United States); Salzberg, Brian M. [Department of Physiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104 (United States); Milovanova, Tatyana N.; Bhopale, Veena M. [Department of Emergency Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104 (United States); Thom, Stephen R., E-mail: sthom@smail.umaryland.edu [Department of Emergency Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104 (United States)

    2013-12-01

    We hypothesized that circulating microparticles (MPs) play a role in pro-inflammatory effects associated with carbon monoxide (CO) inhalation. Mice exposed for 1 h to 100 ppm CO or more exhibit increases in circulating MPs derived from a variety of vascular cells as well as neutrophil activation. Tissue injury was quantified as 2000 kDa dextran leakage from vessels and as neutrophil sequestration in the brain and skeletal muscle; and central nervous system nerve dysfunction was documented as broadening of the neurohypophysial action potential (AP). Indices of injury occurred following exposures to 1000 ppm for 1 h or to 1000 ppm for 40 min followed by 3000 ppm for 20 min. MPs were implicated in causing injuries because infusing the surfactant MP lytic agent, polyethylene glycol telomere B (PEGtB) abrogated elevations in MPs, vascular leak, neutrophil sequestration and AP prolongation. These manifestations of tissue injury also did not occur in mice lacking myeloperoxidase. Vascular leakage and AP prolongation were produced in naïve mice infused with MPs that had been obtained from CO poisoned mice, but this did not occur with MPs obtained from control mice. We conclude that CO poisoning triggers elevations of MPs that activate neutrophils which subsequently cause tissue injuries. - Highlights: • Circulating microparticles (MPs) increase in mice exposed to 100 ppm CO or more. • MPs are lysed by infusing the surfactant polyethylene glycol telomere B. • CO-induced MPs cause neutrophil activation, vascular leak and CNS dysfunction. • Similar tissue injuries do not arise with MPs obtained from air-exposed, control mice.

  10. Geriatric oral and maxillofacial dysfunctions in the context of geriatric syndrome.

    Science.gov (United States)

    Nam, Y; Kim, N-H; Kho, H-S

    2018-04-01

    To propose the application of the concept of geriatric syndrome for common geriatric oral and maxillofacial dysfunctions and to suggest the necessity of developing effective evaluation methods for oral and maxillofacial frailty. The concepts of frailty and geriatric syndrome based on multi-morbidity and polypharmacy were applied to five common geriatric oral medicinal dysfunctional problems: salivary gland hypofunction (dry mouth), chronic oral mucosal pain disorders (burning mouth symptoms), taste disorders (taste disturbances), swallowing disorders (dysphagia), and oral and maxillofacial movement disorders (oromandibular dyskinesia and dystonia). Each of the dysfunctions is caused by various kinds of diseases and/or conditions and medications, thus the concept of geriatric syndrome could be applied. These dysfunctions, suggested as components of oral and maxillofacial geriatric syndrome, are associated and interacted with each other in a complexity of vicious cycle. The resulting functional impairments caused by this syndrome can cause oral and maxillofacial frailty. Geriatric oral and maxillofacial dysfunctions could be better appreciated in the context of geriatric syndrome. The development of effective methods for evaluating the severity of these dysfunctions and the resulting frailty is essential. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. Dramatic Increases in Maternal Opioid Use and Neonatal Abstinence Syndrome

    Science.gov (United States)

    ... and Neonatal Abstinence Syndrome Dramatic Increases in Maternal Opioid Use and Neonatal Abstinence Syndrome Email Facebook Twitter Text Description of Infographic Use of opiates during pregnancy can result in a drug withdrawal syndrome in newborns called neonatal abstinence syndrome (NAS). ...

  12. Dysfunction elimination syndrome: is age at toilet training a determinant?

    Science.gov (United States)

    da Fonseca, Eliane Maria Garcez Oliveira; Santana, Priscila G R; Gomes, Fernanda Alves Pinto Mosqueira; Bastos, Marcelly Dias

    2011-06-01

    To study the relationship between the age of completion of toilet training during daytime and the onset of dysfunctional elimination syndrome (DES). The present study was designed as a case-control study. A total of 80 patients with DES were allocated to the case group and 80 patients age- and gender-matched without DES were allocated to the control group. The patients with DES were seen in a tertiary center and the control patients were seen in a primary care center. Early completion of toilet training was considered to be before 24 months. Patients were aged 3-17 years (mean: 7.55); 24 were male (30%) and 56 female (70%). The most frequent lower urinary tract symptoms were: urgency (77%), incontinence (75%), holding maneuvers (30%), high urinary frequency (61%) and low urinary frequency (16%). There was a history of urinary tract infection (UTI) in 62% of the DES group. The first UTI episode was before toilet training in 40%. The completion of toilet training was before the age of 2 years in 48% of DES patients and in 50% of the control group (p = 0.752) [odds ratio (OR) 0.91, 95% confidence interval (CI) 0.49-1.62]. The completion of toilet training before 24 months of age was not associated with DES. Some patients had DES symptoms such as UTI, infrequent voiding and constipation before toilet training. These findings suggest that DES may precede toilet training and this possibility should be confirmed in further studies. Copyright © 2011 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  13. Posture-dependent aphasia: Focal cortical dysfunction in the sinking scalp flap syndrome

    Directory of Open Access Journals (Sweden)

    Prasad Krishnan

    2015-01-01

    Full Text Available Decompressive craniotomies are being increasingly used in the treatment of raised intracranial pressure due to a variety of reasons like large infarcts, hypertensive hemorrhages and contusions. Though effective in decreasing raised intracranial pressure, they have certain complications like the sinking scalp flap syndrome that is caused by cortical dysfunction of the area below the craniotomy which is exposed to the effects of atmospheric pressure. We describe a 60-year-old patient who underwent decompressive craniotomy for acute subdural hematoma and after an initial uneventful postoperative period developed incontinence, irrelevant verbalization and ataxia. He was found to have hydrocephalus and underwent a ventriculo-peritoneal shunt with resolution of his symptoms. Three weeks later his flap had sunk in deeply and the skin was non-pinchable and he was noted to have headaches, vomiting and retching when he sat up. In addition he became aphasic when seated and the symptoms subsided on lying down. A diagnosis of focal cortical dysfunction due to sinking scalp flap syndrome was made. We highlight the incidence and pathophysiology of this unusual complication of decompressive craniotomy and stress the need to be aware of this entity particularly in patients who do not show an initial improvement after decompressive craniotomy as the cause of their poor neurological status may not be explained by any other mechanism.

  14. Endothelial dysfunction and reduced heart rate variability in patients with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Elena Nikolaevna Smirnova

    2018-03-01

    Full Text Available According to experts of the World Health Organization (WHO, metabolic syndrome (MS can be considered as pandemy of the XXI century, because its prevalence among the population of developed countries is about 25-35%. In this study with the purpose of complex investigation of the autonomic nervous system and endothelial function we included 66 patients with MS between the ages of 25 and 61 (46.9±9.9 years. A comparison group of apparently healthy individuals (16 individuals, average age of 45.3±2.3 years; P>0.05 was studied. To evaluate the response of microvascular tone, we used the method of wavelet analysis of skin temperature oscillations during cooling of the limb. All patients underwent the study of heart rate variability. The levels of insulin, endothelin-1, and vascular endothelial growth factor were determined using enzyme immunoassay. Patients with MS had significant differences in all metabolic parameters. Our study showed that in the group of MS there is a decrease of the variability of heart rhythm compared with the healthy group. Conducting cold test revealed signs of endothelial dysfunction in the MS group, which was manifested by the decrease of the index of vasodilation in the endothelial and neurogenic frequency range. In the study group we determined the increase in biochemical markers of endothelial dysfunction, which correlated with parameters of vasodilation. Also, the presence of endothelial dysfunction significantly correlated with signs of reduction of the variability of the heart rhythm.

  15. A comparison of elderly and adult multiple organ dysfunction syndrome in the rat model.

    Science.gov (United States)

    Zhu, Qinglei; Qian, Xiaoshun; Wang, Shiwen; Yin, Tong; Yang, Jie; Xue, Qiao; Xu, Bin

    2006-08-01

    Multiple organ dysfunction syndrome (MODS) in the elderly is the most common cause of mortality in critically ill elderly patients, and it is different from MODS in the adult in clinic. Rare studies have been done on its pathogenesis and the comparison between adult and elderly MODS animal models. This work aimed at exploring the mechanisms mediating elderly MODS and compared this with adult MODS. Male Sprague-Dawley aged and adult rats were intraperitoneally injected with zymosan for incitement of MODS. Aged rats receiving zymosan showed severer pulmonary, cardiac and renal dysfunctions than adult rats. Likewise, the tissue lesions under light microscope in major organs of zymosan treated aged rats were much worse than those of zymosan treated adult rats. Moreover, zymosan treated aged rats showed 142% and 64% greater increase in pulmonary alveolar macrophages (AMs) apoptotic rate and serum TNF-alpha level, respectively, whereas 43% smaller increase in serum IL-10 level compared to zymosan treated adult rats. Furthermore, lung injury was much worse than that in other organs in zymosan treated aged rats. Overall, these results suggest that zymosan can be used in aged rats to incite MODS in the elderly. In the animal model of elderly MODS, there are (1) severer injury in lung, heart and kidney vs adult; (2) easier to develop severe systemic inflammatory response syndrome (SIRS) instead of compensatory anti-inflammatory response syndrome (CARS) compared to the adult; and (3) severer inflammation in lung than other organs indicative of the possible roles of lung in triggering MODS in the elderly.

  16. Differential diagnostics of different nosological forms of the temporomandibular joint pain dysfunction syndrome

    Directory of Open Access Journals (Sweden)

    Kameneva L.A.

    2014-09-01

    Full Text Available Research objective: to carry out differential diagnostics of various nosological forms of a temporal and temporomandibular joint pain dysfunction syndrome. Material and methods. On clinical base of orthopedic odontology chair of SamSMU inspection of 244 patients with temporomandibular joint pain dysfunction syndrome was performed. Diagnostics was carried out according to the special card of inspection which was developed on orthopedic odontology chair of SamSMU and included subjective, objective and special methods of research. As a result of research it is taped: 71 — an occlusal-articulation dysfunctional syndrome, 44 — a neuromuscular dysfunctional syndrome, 76 patients have a hardly set dislocation of intra joint disk and 53 — a habitual dislocation and a subluxation of a temporomandibular joint. We used Yu.A. Petrosov's classification as it displays most precisely the processes happening at pathology of the intra joint relations. Conclusion: On the basis of the obtained data the table of differential diagnostics of various nosological forms of temporomandibular joint pain dysfunction syndrome has been made.

  17. Increased Oxidative Stress and Mitochondrial Dysfunction in Zucker Diabetic Rat Liver and Brain

    Directory of Open Access Journals (Sweden)

    Haider Raza

    2015-02-01

    Full Text Available Background/Aims: The Zucker diabetic fatty (ZDF, FA/FA rat is a genetic model of type 2 diabetes, characterized by insulin resistance with progressive metabolic syndrome. We have previously demonstrated mitochondrial dysfunction and oxidative stress in the heart, kidneys and pancreas of ZDF rats. However, the precise molecular mechanism of disease progression is not clear. Our aim in the present study was to investigate oxidative stress and mitochondrial dysfunction in the liver and brain of ZDF rats. Methods: In this study, we have measured mitochondrial oxidative stress, bioenergetics and redox homeostasis in the liver and brain of ZDF rats. Results: Our results showed increased reactive oxygen species (ROS production in the ZDF rat brain compared to the liver, while nitric oxide (NO production was markedly increased both in the brain and liver. High levels of lipid and protein peroxidation were also observed in these tissues. Glutathione metabolism and mitochondrial respiratory functions were adversely affected in ZDF rats when compared to Zucker lean (ZL, +/FA control rats. Reduced ATP synthesis was also observed in the liver and brain of ZDF rats. Western blot analysis confirmed altered expression of cytochrome P450 2E1, iNOS, p-JNK, and IκB-a confirming an increase in oxidative and metabolic stress in ZDF rat tissues. Conclusions: Our data shows that, like other tissues, ZDF rat liver and brain develop complications associated with redox homeostasis and mitochondrial dysfunction. These results, thus, might have implications in understanding the etiology and pathophysiology of diabesity which in turn, would help in managing the disease associated complications.

  18. Nosography of systemic inflammatory response syndrome, sepsis, severe sepsis, septic shock, and multiple organ dysfunction syndrome in internal medicine patients

    Directory of Open Access Journals (Sweden)

    Silvia Spoto

    2015-09-01

    Full Text Available Sepsis is defined by the presence of at least two systemic inflammatory response syndrome criteria associated with an infection microbiologically or clinically evidenced. In Italy sepsis is responsible for 80,000 hospital admissions per year and, in the last decades, severe sepsis and septic shock cases are increasing, in correlation with the increased prevalence of multi-drugresistant microbial strains. The predominant etiologic agents are Gram-positive and Gram-negative bacteria, but sepsis caused by fungi is increasing. The host response with both inflammatory and anti-inflammatory processes is responsible for organic failures, which complicate the syndrome, and for the susceptibility to secondary infections. The impairment of one or more organs or systems may be the onset clinical presentation. The organ dysfunctions complicating sepsis involve mainly cardiorespiratory system, kidneys, hemostatis and central nervous system. Fever or hypothermia, tachycardia, tachypnea, leukocytosis or leukopenia, elevated blood levels of lactate and procalcitonin, hypotension are diagnostically sensitive findings for sepsis. Definitive diagnosis requires isolation of the pathogen from blood sample or from the focus of infection. Therapeutic success against sepsis depends on the appropriate use of antibiotics, on the treatment of hemodynamic and respiratory disorder and on general supportive care. In some cases the use of activated protein C is to take in consideration.

  19. Cardiovascular and metabolic syndrome risk among men with and without erectile dysfunction: case-control study

    OpenAIRE

    Zambon, João Paulo; Mendonça, Rafaela Rosalba de; Wroclawski, Marcelo Langer; Karam Junior, Amir; Santos, Raul D.; Carvalho, José Antonio Maluf de; Wroclawski, Eric Roger

    2010-01-01

    CONTEXT AND OBJECTIVE: Erectile dysfunction has been associated with cardiovascular diseases. The aim here was to evaluate cardiovascular risk through the Framingham Risk Score (FRS) criteria, C-reactive protein (CRP) assays and presence of metabolic syndrome (MS) in men with and without erectile dysfunction diagnosed within a healthcare program. DESIGN AND SETTING: A retrospective case-control study was conducted. The patients were selected from a healthcare program at the Hospital Israelita...

  20. Algo-dysfunctional syndromes: a critical digest of the recent literature.

    Science.gov (United States)

    Talotta, Rossella; Atzeni, Fabiola; Bazzichi, Laura; Giacomelli, Camillo; Di Franco, Manuela; Salaffi, Fausto; Sarzi-Puttini, Piercarlo

    2015-01-01

    The etiopathogenesis of the algo-dysfunctional syndromes, which include chronic fatigue syndrome, fibromyalgia and irritable bowel syndrome, is still debated, but it is widely accepted that it is best described by a multifactorial model that include genes, environmental factors such as external infections, inflammation, dietary habits, impaired endogenous cortisol production, the aberrant activation of some areas of the central nervous system, and small peripheral nervous fibre damage. This complexity suggests that they should be managed by means of a multidisciplinary approach involving the use of both pharmacological and non-pharmacological treatments. The aim of this review is to discuss the most recent scientific acquisitions concerning these syndromes and their treatment.

  1. Muscle stem cell dysfunction impairs muscle regeneration in a mouse model of Down syndrome.

    Science.gov (United States)

    Pawlikowski, Bradley; Betta, Nicole Dalla; Elston, Tiffany; Williams, Darian A; Olwin, Bradley B

    2018-03-09

    Down syndrome, caused by trisomy 21, is characterized by a variety of medical conditions including intellectual impairments, cardiovascular defects, blood cell disorders and pre-mature aging phenotypes. Several somatic stem cell populations are dysfunctional in Down syndrome and their deficiencies may contribute to multiple Down syndrome phenotypes. Down syndrome is associated with muscle weakness but skeletal muscle stem cells or satellite cells in Down syndrome have not been investigated. We find that a failure in satellite cell expansion impairs muscle regeneration in the Ts65Dn mouse model of Down syndrome. Ts65Dn satellite cells accumulate DNA damage and over express Usp16, a histone de-ubiquitinating enzyme that regulates the DNA damage response. Impairment of satellite cell function, which further declines as Ts65Dn mice age, underscores stem cell deficiencies as an important contributor to Down syndrome pathologies.

  2. Endothelial dysfunction in high fructose containing diet fed rats: Increased nitric oxide and decreased endothelin-1 levels in liver tissue

    Directory of Open Access Journals (Sweden)

    Zeki Arı

    2010-09-01

    Full Text Available Objectives: Dietary high fructose consumption which is closely associated with endothelial dysfunction via insulin re-sistance has recently increased in developed countries. Insulin resistance has a promoter effect on many metabolic disorders such as syndrome X, polycystic ovary syndrome, Type 2 diabetes mellitus etc. Our aim in this study is to understand the impact of increased fructose intake on metabolisms of glucose, insulin and endothelial dysfunction by measuring nitric oxide (NO and endothelin-1 (ET-1 levels in hepatic tissue which is crucial in fructose metabolism.Materials and Methods: We designed an animal study to understand increased fructose intake on hepatic endothe-lium. Twenty adult male albino rats were divided into two groups; the study group (group 1, n=10 received isocaloric fructose enriched diet (fructose-fed rats, containing 18.3% protein, 60.3% fructose and 5.2% fat while the control group received purified regular chow (group 2, n=10 for 2 weeks. After feeding period, blood and hepatic tissue samples were collected and glucose, insulin, NO and ET-1 levels were analysed.Results: We found increased fasting glucose and insulin levels and impaired glucose tolerance in fructose fed rats. Higher NO and lower ET–1 levels were also detected in hepatic tissue samples of the group 1.Conclusion: Increased fructose consumption has deleterious effects on glucose tolerance, insulin resistance and may cause to endothelial dysfunction.

  3. Autonomic dysfunction in Hodgkin and non-Hodgkin lymphoma. A paraneoplastic syndrome?

    Directory of Open Access Journals (Sweden)

    Franca Bilora

    2010-11-01

    Full Text Available We wanted to determine whether autonomic dysfunction in patients with lymphoma is related to chemotherapy or represent a paraneoplastic syndrome. 40 patients with current or cured Hodgkin or non-Hodgkin lymphoma and 40 healthy controls, matched for age, gender, hypertension and diabetes mellitus underwent autonomic evaluation (Deep Breath, Valsalva Maneuver, Hand Grip, Lying to Standing, Tilt Test. Current patients also suffering from diabetes or hypertension, or still on chemotherapy revealed autonomic changes, while cured or healthy subjects did not. Autonomic dysfunction in lymphoma is a transient manifestation of a paraneoplastic syndrome.

  4. Familial skin cancer syndromes: Increased melanoma risk.

    Science.gov (United States)

    Ransohoff, Katherine J; Jaju, Prajakta D; Jaju, Prajaka D; Tang, Jean Y; Carbone, Michele; Leachman, Sancy; Sarin, Kavita Y

    2016-03-01

    Phenotypic traits, such as red hair and freckling, increase melanoma risk by 2- to 3-fold. In addition, approximately 10% of melanomas are caused by inherited germline mutations that increase melanoma risk from 4- to >1000-fold. This review highlights the key genes responsible for inherited melanoma, with an emphasis on when a patient should undergo genetic testing. Many genetic syndromes associated with increased melanoma risk are also associated with an increased risk of other cancers. Identification of these high-risk patients is essential for preventive behavior reinforcement, genetic counseling, and ensuring other required cancer screenings. Copyright © 2015 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  5. 'TEST-NEGATIVE ANGELMAN SYNDROME' WITH THYROID DYSFUNCTION: A RARITY BUT A REALITY!

    Science.gov (United States)

    Ali, Mohammad Usman; Mehmood, Anjum; Ali, Mahrukh Ayesha

    2015-01-01

    Angelman Syndrome (AS) is believed to be a complex neuro-developmental genetic disorder that is often described clinically by the presence of behavioural uniqueness and movement disorders; in addition to having developmental delay and speech impairment. Genetic factors have been linked to the syndrome's aetiology in 90% of cases, although in 10% cases, an unidentified genetic mechanism accounts for the classic phenotypic features of AS. Angelman Syndrome in general or with associated thyroid dysfunction, have never been reported from Pakistan. This is the first ever case report from Pakistan reporting a rare case of clinically diagnosed AS with associated thyroid dysfunction in the presence of normal molecular genetic testing (DNA methylation test and UBE3A gene sequencing). In future, clinicians should make efforts in documenting similar cases with associated clinical profiles from our part of the world, thereby contributing to the local and regional epidemiology of these syndromes.

  6. Chronic functional bowel syndrome enhances gut-brain axis dysfunction, neuroinflammation, cognitive impairment, and vulnerability to dementia.

    Science.gov (United States)

    Daulatzai, Mak Adam

    2014-04-01

    The irritable bowel syndrome (IBS) is a common chronic functional gastrointestinal disorder world wide that lasts for decades. The human gut harbors a diverse population of microbial organisms which is symbiotic and important for well being. However, studies on conventional, germ-free, and obese animals have shown that alteration in normal commensal gut microbiota and an increase in pathogenic microbiota-termed "dysbiosis", impact gut function, homeostasis, and health. Diarrhea, constipation, visceral hypersensitivity, and abdominal pain arise in IBS from the gut-induced dysfunctional metabolic, immune, and neuro-immune communication. Dysbiosis in IBS is associated with gut inflammation. Gut-related inflammation is pivotal in promoting endotoxemia, systemic inflammation, and neuroinflammation. A significant proportion of IBS patients chronically consume alcohol, non-steroidal anti-inflammatories, and fatty diet; they may also suffer from co-morbid respiratory, neuromuscular, psychological, sleep, and neurological disorders. The above pathophysiological substrate is underpinned by dysbiosis, and dysfunctional bidirectional "Gut-Brain Axis" pathways. Pathogenic gut microbiota-related systemic inflammation (due to increased lipopolysaccharide and pro-inflammatory cytokines, and barrier dysfunction), may trigger neuroinflammation enhancing dysfunctional brain regions including hippocampus and cerebellum. These as well as dysfunctional vago-vagal gut-brain axis may promote cognitive impairment. Indeed, inflammation is characteristic of a broad spectrum of neurodegenerative diseases that manifest demntia. It is argued that an awareness of pathophysiological impact of IBS and implementation of appropriate therapeutic measures may prevent cognitive impairment and minimize vulnerability to dementia.

  7. Obstructive sleep apnea syndrome and erectile dysfunction: does ...

    African Journals Online (AJOL)

    Conclusion: It is not certainly possible to say that OSAS is clearly associated with ED. However, after 3 months of regular CPAP usage, ED complaints in patients with OSAS might improve positively. Trials with larger series may give more conclusive data. Key Words: Sleep disorder, erectile dysfunction, obstructive sleep ...

  8. Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

    Directory of Open Access Journals (Sweden)

    Dichter Gabriel S

    2012-07-01

    Full Text Available Abstract This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders, neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette’s syndrome, conduct disorder/oppositional defiant disorder, and genetic syndromes (i.e., Fragile X syndrome, Prader–Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome. We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies.

  9. Do Coffee Polyphenols Have a Preventive Action on Metabolic Syndrome Associated Endothelial Dysfunctions? An Assessment of the Current Evidence

    Science.gov (United States)

    Yamagata, Kazuo

    2018-01-01

    Epidemiologic studies from several countries have found that mortality rates associated with the metabolic syndrome are inversely associated with coffee consumption. Metabolic syndrome can lead to arteriosclerosis by endothelial dysfunction, and increases the risk for myocardial and cerebral infarction. Accordingly, it is important to understand the possible protective effects of coffee against components of the metabolic syndrome, including vascular endothelial function impairment, obesity and diabetes. Coffee contains many components, including caffeine, chlorogenic acid, diterpenes and trigonelline. Studies have found that coffee polyphenols, such as chlorogenic acids, have many health-promoting properties, such as antioxidant, anti-inflammatory, anti-cancer, anti-diabetes, and antihypertensive properties. Chlorogenic acids may exert protective effects against metabolic syndrome risk through their antioxidant properties, in particular toward vascular endothelial cells, in which nitric oxide production may be enhanced, by promoting endothelial nitric oxide synthase expression. These effects indicate that coffee components may support the maintenance of normal endothelial function and play an important role in the prevention of metabolic syndrome. However, results related to coffee consumption and the metabolic syndrome are heterogeneous among studies, and the mechanisms of its functions and corresponding molecular targets remain largely elusive. This review describes the results of studies exploring the putative effects of coffee components, especially in protecting vascular endothelial function and preventing metabolic syndrome. PMID:29401716

  10. Do Coffee Polyphenols Have a Preventive Action on Metabolic Syndrome Associated Endothelial Dysfunctions? An Assessment of the Current Evidence

    Directory of Open Access Journals (Sweden)

    Kazuo Yamagata

    2018-02-01

    Full Text Available Epidemiologic studies from several countries have found that mortality rates associated with the metabolic syndrome are inversely associated with coffee consumption. Metabolic syndrome can lead to arteriosclerosis by endothelial dysfunction, and increases the risk for myocardial and cerebral infarction. Accordingly, it is important to understand the possible protective effects of coffee against components of the metabolic syndrome, including vascular endothelial function impairment, obesity and diabetes. Coffee contains many components, including caffeine, chlorogenic acid, diterpenes and trigonelline. Studies have found that coffee polyphenols, such as chlorogenic acids, have many health-promoting properties, such as antioxidant, anti-inflammatory, anti-cancer, anti-diabetes, and antihypertensive properties. Chlorogenic acids may exert protective effects against metabolic syndrome risk through their antioxidant properties, in particular toward vascular endothelial cells, in which nitric oxide production may be enhanced, by promoting endothelial nitric oxide synthase expression. These effects indicate that coffee components may support the maintenance of normal endothelial function and play an important role in the prevention of metabolic syndrome. However, results related to coffee consumption and the metabolic syndrome are heterogeneous among studies, and the mechanisms of its functions and corresponding molecular targets remain largely elusive. This review describes the results of studies exploring the putative effects of coffee components, especially in protecting vascular endothelial function and preventing metabolic syndrome.

  11. Do Coffee Polyphenols Have a Preventive Action on Metabolic Syndrome Associated Endothelial Dysfunctions? An Assessment of the Current Evidence.

    Science.gov (United States)

    Yamagata, Kazuo

    2018-02-04

    Epidemiologic studies from several countries have found that mortality rates associated with the metabolic syndrome are inversely associated with coffee consumption. Metabolic syndrome can lead to arteriosclerosis by endothelial dysfunction, and increases the risk for myocardial and cerebral infarction. Accordingly, it is important to understand the possible protective effects of coffee against components of the metabolic syndrome, including vascular endothelial function impairment, obesity and diabetes. Coffee contains many components, including caffeine, chlorogenic acid, diterpenes and trigonelline. Studies have found that coffee polyphenols, such as chlorogenic acids, have many health-promoting properties, such as antioxidant, anti-inflammatory, anti-cancer, anti-diabetes, and antihypertensive properties. Chlorogenic acids may exert protective effects against metabolic syndrome risk through their antioxidant properties, in particular toward vascular endothelial cells, in which nitric oxide production may be enhanced, by promoting endothelial nitric oxide synthase expression. These effects indicate that coffee components may support the maintenance of normal endothelial function and play an important role in the prevention of metabolic syndrome. However, results related to coffee consumption and the metabolic syndrome are heterogeneous among studies, and the mechanisms of its functions and corresponding molecular targets remain largely elusive. This review describes the results of studies exploring the putative effects of coffee components, especially in protecting vascular endothelial function and preventing metabolic syndrome.

  12. Obesity, polycystic ovarian syndrome and thyroid dysfunction in women with epilepsy

    Directory of Open Access Journals (Sweden)

    Mythili Ayyagari

    2012-01-01

    Full Text Available Introduction: Women with epilepsy (WWE have an increased risk for several endocrine disorders. Obesity and Polycystic Ovarian Syndrome (PCOS are common side-effects of anticonvulsant drugs. Aim: To study the prevalence of Obesity, PCOS, Thyroid dysfunction in WWE on monotherapy with Carbamazepine (CBZ, Sodium Valproate (VAL and Phenytoin (DPH Material and Methods: Sixty WWE in the reproductive age group (13 - 45 yr who are on atleast 6 months of monotherapy with either CBZ (20 or VAL (20 or DPH (20 are subjects of the study. Their Anthropometric data is recorded. They are interviewed and investigated for PCOS and thyroid dysfunction. Twenty healthy women in the reproductive age group served as controls. BMI>25 is taken as cut-off for Obesity. PCOS is defined as menstrual irregularity and/or clinical /biochemical hyperandrogenism with ultrasound evidence of PCO as per the Rotterdam criteria. TSH 4 is taken as evidence of thyroid dysfunction. Women are grouped according to the anticonvulsant drug received and the data analyzed in each group. Results: The mean BMI among VAL and CBZ users is significantly higher than among DPH users (23.3 & 23.4 vs 20.4. There is no significant difference in incidence of PCOS among WWE using either DPH or VAL or CBZ. Elevated TSH>4 is seen more often in WWE on VAL (9/20 compared to CBZ (6/20 and DPH (3/20. WWE on CBZ, VAL and DPH did not differ in mean BMI, Obesity, PCOS compared to healthy controls. As compared to healthy controls, more WWE on drug therapy had significantly elevated TSH (1/20 vs20/60. Conclusions: WWE on VAL and CBZ had significant weight gain compared to DPH users. Despite weight gain, there was no difference in the incidence of PCOS between the users of VAL, CBZ and DPH. As compared to healthy controls, more WWE on drug therapy had significantly elevated TSH, more so in the VAL group.

  13. Therapeutic agents for the treatment of cognitive dysfunction syndrome in senior dogs.

    Science.gov (United States)

    Landsberg, Gary

    2005-03-01

    With increasing age, dogs develop a form of neurodegenerative disease which has many similarities to age related cognitive impairment and Alzheimer's disease in humans. A decline in learning and memory can be demonstrated in dogs beginning as young as 7 years of age using a variety of neuropsychological tests. However, clinical cases of cognitive dysfunction syndrome are seldom identified until the age of 11 years or older. This is likely due to the fact that the owners are relying on clinical observations such as house-soiling, sleep-wake cycles and disorientation, rather than tests of learning and memory. On the other hand, dogs that are trained to more exacting tasks such as guide dogs for the visually impaired, or bomb detection and agility trained dogs might be noticed to have a decline in performance at a much earlier age. Through the use of standardized neuropsychological testing protocols, a number of drugs, natural products and supplement formulations have been developed for use in dogs with cognitive dysfunction and, in some cases clinical trials have validated their efficacy. Furthermore, the testing of products currently licensed and in the pipeline for the treatment of cognitive decline and Alzheimer's in humans, may provide additional therapeutic agents for the treatment of senior dogs, as well as provide insight as to the potential for the efficacy of these compounds in humans. This review will examine those products that are now marketed along with some that might be considered for use in senior dogs with cognitive dysfunction as well as the research that has been used to validate the efficacy (or lack thereof) of these compounds.

  14. Temporomandibular joint pain-dysfunction syndrome in patients from “Guillermo Tejas” polyclinic

    Directory of Open Access Journals (Sweden)

    Delarays Ossani Pérez Alfonso

    2015-09-01

    Full Text Available Background: when the physiological levels of the components of the temporomandibular joint are altered by any risk factor, there can appear functional and structural disorders with their corresponding clinical repercussions, which are part of the temporomandibular joint pain-dysfunction syndrome.Objective: to characterize clinically and epidemiologically those patients suffering from temporomandibular joint pain-dysfunction syndrome of “Guillermo Tejas” polyclinic in Las Tunas municipality, from November, 2012 to October, 2014.Methods: a descriptive study was carried out in patients from 12 to 20 years old who came to the dental clinic of the above mentioned polyclinic and time period. The universe consisted of 135 patients who entered the service and the sample was comprised 75 patients diagnosed with temporomandibular joint pain-dysfunction syndrome.Results: females were the most representative ones; regarding age, the groups of 18, 19 and 20 years old patients prevailed. The most frequent para-functional habits were unilateral mastication and bruxism. The prevailing associated factors were occlusal disharmonies. The joint noise and mandibular deviation were the most frequent symptoms and signs.Conclusions: it was possible to characterize clinically and epidemiologically those patients suffering from temporomandibular joint pain-dysfunction syndrome, more frequently found in those older than 18 years old.

  15. Improved survival of TNF-deficient mice during the zymosan-induced multiple organ dysfunction syndrome.

    NARCIS (Netherlands)

    Volman, T.J.H.; Hendriks, T.; Verhofstad, A.A.J.; Kullberg, B.J.; Goris, R.J.A.

    2002-01-01

    The purpose of the study was to investigate the course of the zymosan-induced multiple organ dysfunction syndrome (MODS) in the absence of tumor necrosis factor (TNF) in a murine model. Tumor Necrosis Factor-alpha-lymphotoxin-a knockout (TNF/LT-/-) mice (n = 36) and wild-type (TNF/LT+/+) mice (n =

  16. Thyroid dysfunction in children with Down syndrome: a literature review.

    Science.gov (United States)

    King, K; O'Gorman, C; Gallagher, S

    2014-03-01

    This article is an evidence-based review of thyroid disease in children with Down syndrome, including a comparison between various professional guidelines for the management of thyroid disease in children with Down syndrome. Aspects of thyroid disease which are discussed include: congenital hypothyroidism; autoimmune thyroid disease; subclinical hypothyroidism; and hyperthyroidism. The national professional guidelines of Ireland, the United Kingdom, the United States of America, Australia and Canada are reviewed and compared. A literature search was conducted using Medline and PubMed. Search terms included 'Down syndrome' and 'thyroid disease', 'hypothyroidism', 'hyperthyroidism', 'subclinical hypothyroidism'. Eighty-nine articles were retrieved and reviewed for inclusion. The guidelines on the medical management of children with Down syndrome of five expert groups have also been retrieved and reviewed for this discussion. These various guidelines offer largely similar advice regarding frequency of thyroid function tests, with only Ireland and the UK testing less frequently than annually. Only the United Kingdom and Irish Down Syndrome Medical Interest Group guidelines suggest testing for thyroid antibodies at every thyroid screen. None of the guidelines offer suggestions on the optimal course of action to pursue after the discovery of subclinical hypothyroidism. In conclusion, more evidence is required regarding the optimal course of treatment for subclinical hypothyroidism. Such evidence may be best obtained by conducting a prospective randomized control trial.

  17. Male Sexual Dysfunction, Leptin, Pituitary and Gonadal Hormones in Nigerian Males with Metabolic Syndrome and Type 2 Diabetes Mellitus

    Science.gov (United States)

    Fabian, Unyime Aniekpon; Charles-Davies, Mabel Ayebatonyo; Fasanmade, Adesoji Adedipe; Olaniyi, John Ayodele; Oyewole, Oyediran Emmanuel; Owolabi, Mayowa Ojo; Adebusuyi, Jane Roli; Hassan, Olufunke Olayemi; Ajobo, Babatunde Mohammed; Ebesunun, Maria Onomhaguan; Adigun, Kehinde; Akinlade, Kehinde Sola; Arinola, Olatubosun Ganiyu; Agbedana, Emmanuel Oluyemi

    2016-01-01

    Background: Pituitary and gonadal dysfunctions resulting from increased adiposity leading to disturbances of sexual and reproductive functions have been reported in males with metabolic syndrome (MS) and type 2 diabetes mellitus (DM2). The aim of this study was to evaluate sexual dysfunction, leptin, and reproductive hormones in Nigerian males with MS and DM2. Methods: Participants were 104 men (34 males with DM2, 17 men with MS and 53 men with normal body mass index (18.5–24.9 Kg/m2) without MS (controls)). The International Diabetes Federation (2005) criteria were used for MS diagnosis. Reproductive history, anthropometry, blood pressure (BP) and 10 ml fasting blood samples were obtained by standard methods. Fasting plasma glucose, total cholesterol, triglycerides and high density lipoprotein cholesterol were determined by enzymatic methods while low density lipoprotein cholesterol was calculated. Leptin, follicle stimulating hormone (FSH), luteinising hormone (LH), prolactin, testosterone and oestrogen were determined by enzyme immunoassay (leptin by Diagnostic Automation, Inc.; others by Immunometrics (UK) Ltd.) while oestrogen-testosterone ratio was calculated. Data analyzed using ANOVA, Chi square and multiple regression were statistically significant at plibido was observed in men in MS than controls and DM2 groups (p<0.05). Conclusion: Sexual and reproductive dysfunction may be related to increased conversion of testosterone to oestrogen in increased adipose mass in men with metabolic syndrome and type 2 diabetes mellitus. PMID:26962479

  18. Dysfunctions of the basal ganglia-cerebellar-thalamo-cortical system produce motor tics in Tourette syndrome.

    Directory of Open Access Journals (Sweden)

    Daniele Caligiore

    2017-03-01

    Full Text Available Motor tics are a cardinal feature of Tourette syndrome and are traditionally associated with an excess of striatal dopamine in the basal ganglia. Recent evidence increasingly supports a more articulated view where cerebellum and cortex, working closely in concert with basal ganglia, are also involved in tic production. Building on such evidence, this article proposes a computational model of the basal ganglia-cerebellar-thalamo-cortical system to study how motor tics are generated in Tourette syndrome. In particular, the model: (i reproduces the main results of recent experiments about the involvement of the basal ganglia-cerebellar-thalamo-cortical system in tic generation; (ii suggests an explanation of the system-level mechanisms underlying motor tic production: in this respect, the model predicts that the interplay between dopaminergic signal and cortical activity contributes to triggering the tic event and that the recently discovered basal ganglia-cerebellar anatomical pathway may support the involvement of the cerebellum in tic production; (iii furnishes predictions on the amount of tics generated when striatal dopamine increases and when the cortex is externally stimulated. These predictions could be important in identifying new brain target areas for future therapies. Finally, the model represents the first computational attempt to study the role of the recently discovered basal ganglia-cerebellar anatomical links. Studying this non-cortex-mediated basal ganglia-cerebellar interaction could radically change our perspective about how these areas interact with each other and with the cortex. Overall, the model also shows the utility of casting Tourette syndrome within a system-level perspective rather than viewing it as related to the dysfunction of a single brain area.

  19. Dysfunctions of the basal ganglia-cerebellar-thalamo-cortical system produce motor tics in Tourette syndrome.

    Science.gov (United States)

    Caligiore, Daniele; Mannella, Francesco; Arbib, Michael A; Baldassarre, Gianluca

    2017-03-01

    Motor tics are a cardinal feature of Tourette syndrome and are traditionally associated with an excess of striatal dopamine in the basal ganglia. Recent evidence increasingly supports a more articulated view where cerebellum and cortex, working closely in concert with basal ganglia, are also involved in tic production. Building on such evidence, this article proposes a computational model of the basal ganglia-cerebellar-thalamo-cortical system to study how motor tics are generated in Tourette syndrome. In particular, the model: (i) reproduces the main results of recent experiments about the involvement of the basal ganglia-cerebellar-thalamo-cortical system in tic generation; (ii) suggests an explanation of the system-level mechanisms underlying motor tic production: in this respect, the model predicts that the interplay between dopaminergic signal and cortical activity contributes to triggering the tic event and that the recently discovered basal ganglia-cerebellar anatomical pathway may support the involvement of the cerebellum in tic production; (iii) furnishes predictions on the amount of tics generated when striatal dopamine increases and when the cortex is externally stimulated. These predictions could be important in identifying new brain target areas for future therapies. Finally, the model represents the first computational attempt to study the role of the recently discovered basal ganglia-cerebellar anatomical links. Studying this non-cortex-mediated basal ganglia-cerebellar interaction could radically change our perspective about how these areas interact with each other and with the cortex. Overall, the model also shows the utility of casting Tourette syndrome within a system-level perspective rather than viewing it as related to the dysfunction of a single brain area.

  20. TEMPOROMANDIBULAR PAIN DYSFUNCTION SYNDROME IN PATIENTS ATTENDING LAGOS UNIVERSITY TEACHING HOSPITAL, LAGOS, NIGERIA.

    Science.gov (United States)

    Eweka, O M; Ogundana, O M; Agbelusi, G A

    2016-01-01

    Temporomandibular joint pain dysfunction syndrome (TMJPDS) is the most common temporomandibular disorder. This condition presents with symptoms of pain, restricted jaw movement and joint noise. Other symptoms include otalgia, headache, neck pain and trismus. To determine the pattern of Temporomandibular joint pain dysfunction syndrome patients managed at the Lagos University Teaching Hospital, Lagos, Nigeria. A descriptive study of patients with signs and symptoms of Temporomandibular joint pain dysfunction syndrome attending the Oral Medicine Clinic of Lagos University Teaching Hospital. Twenty-one patients with Temporomandibular joint pain dysfunction syndrome were enrolled into the study, out of which 10(48%) were females and 11(52%) were males. The age range was 23-81years with a mean of 45.2 ± 18.9 years. Majority of the patients 20(95.2%) complained of pain around the joint, in the pre-auricular region, in the muscles of mastication and the ear. While 7(35%) complained of clicking sounds, 10(47.6%) complained of pain on mouth opening and during mastication only. In all 5(23.8%) had impaired movement of the jaws, mouth opening was normal in 18(85.7%) but reduced in 3(14.3%) patients. Over half of patients 12(57%) experienced clicking sounds, there was tenderness around the temporomandibular joint in 16(76.2%) cases, pain in the ear of 7(33.3%) patients and 13(61.9%) people presented with tenderness of the muscles of mastication. Conservative management of all the cases resulted in resolution of the symptoms. Temporomandibular joint pain dysfunction syndrome has diverse clinical presentation and though distressing, it responds to prompt and effective conservative management.

  1. After the bomb drops: a new look at radiation-induced multiple organ dysfunction syndrome (MODS).

    Science.gov (United States)

    Williams, Jacqueline P; McBride, William H

    2011-08-01

    There is increasing concern that, since the Cold War era, there has been little progress regarding the availability of medical countermeasures in the event of either a radiological or nuclear incident. Fortunately, since much is known about the acute consequences that are likely to be experienced by an exposed population, the probability of survival from the immediate hematological crises after total body irradiation (TBI) has improved in recent years. Therefore focus has begun to shift towards later down-stream effects, seen in such organs as the gastrointestinal tract (GI), skin, and lung. However, the mechanisms underlying therapy-related normal tissue late effects, resulting from localised irradiation, have remained somewhat elusive and even less is known about the development of the delayed syndrome seen in the context of whole body exposures, when it is likely that systemic perturbations may alter tissue microenvironments and homeostasis. The sequence of organ failures observed after near-lethal TBI doses are similar in many ways to that of multiple organ dysfunction syndrome (MODS), leading to multiple organ failure (MOF). In this review, we compare the mechanistic pathways that underlie both MODS and delayed normal tissue effects since these may impact on strategies to identify radiation countermeasures.

  2. Endocan: a novel predictor of endothelial dysfunction in obstructive sleep apnea syndrome.

    Science.gov (United States)

    Kanbay, Asiye; Ceylan, Erkan; Köseoğlu, Handan İnönü; Çalışkan, Mustafa; Takir, Mumtaz; Tulu, Selcan; Telci Çaklılı, Ozge; Köstek, Osman; Erek, Aybala; Afsar, Baris

    2018-01-01

    Obstructive sleep apnea syndrome (OSA) is an independent risk factor for endothelial dysfunction and cardiometabolic diseases. Plasma endocan levels are elevated in a large number of diseases, and is a novel surrogate endothelial cell dysfunction marker. We aimed to assess the role of serum endocan level as a potential mechanism of endothelial dysfunction in OSA patients. This was a cohort study in which patients who had undergone a sleep study for diagnosis of OSA were recruited. Included patients were grouped according to apnea-hypopnea index (AHI) as mild, moderate and severe OSA. Patients with AHI < 5 served as control group. Endothelial function was evaluated with flow-mediated dilatation (FMD). Plasma endocan level was measured for all patients. One hundred twenty eight OSA patients included (15 controls, 22 with mild, 22 with moderate and 69 with severe OSA). The mean age was 51.6 ± 11.9 years and 43.8% (56/128) of the study population was female. As expected, the prevalence of hypertension, diabetes and cardiovascular disease increased as the severity of OSA increased. Endocan levels were significantly higher and FMD measurements were lower in patients with OSA compared to healthy controls. There was a positive correlation between AHI and serum endocan levels (rho = 0.826, P < 0.0001) and there was a negative correlation between AHI and FMD (rho = -0.686, P < 0.0001) In addition, we observed a strong negative correlation between serum endocan level and FMD (rho = -0.613, P < 0.0001). In linear regression analysis AHI was independently related both with endocan (P < 0.0001) and FMD (P = 0.011). Serum endocan level is strongly associated with the severity of OSA and endothelial dysfunction. Endocan might be a useful early novel marker for premature vascular endothelial system damage in OSA patients. © 2016 John Wiley & Sons Ltd.

  3. Pinpointing brainstem mechanisms responsible for autonomic dysfunction in Rett syndrome: therapeutic perspectives for 5-HT1A agonists

    Directory of Open Access Journals (Sweden)

    Ana Paula Abdala

    2014-05-01

    Full Text Available Rett syndrome is a neurological disorder caused by loss of function of methyl-CpG-binding protein 2 (MeCP2. Reduced function of this ubiquitous transcriptional regulator has a devastating effect on the central nervous system. One of the most severe and life-threatening presentations of this syndrome is brainstem dysfunction, which results in autonomic disturbances such as breathing deficits, typified by episodes of breathing cessation intercalated with episodes of hyperventilation or irregular breathing. Defects in numerous neurotransmitter systems have been observed in Rett syndrome both in animal models and patients. Here we dedicate special attention to serotonin due to its role in promoting regular breathing, increasing vagal tone, regulating mood, alleviating Parkinsonian-like symptoms and potential for therapeutic translation. A promising new symptomatic strategy currently focuses on regulation of serotonergic function using highly selective serotonin type 1A (5-HT1A biased agonists. We address this newly emerging therapy for respiratory brainstem dysfunction and challenges for translation with a holistic perspective of Rett syndrome, considering potential mood and motor effects.

  4. Pinpointing brainstem mechanisms responsible for autonomic dysfunction in Rett syndrome: therapeutic perspectives for 5-HT1A agonists

    Science.gov (United States)

    Abdala, Ana P.; Bissonnette, John M.; Newman-Tancredi, Adrian

    2014-01-01

    Rett syndrome is a neurological disorder caused by loss of function of methyl-CpG-binding protein 2 (MeCP2). Reduced function of this ubiquitous transcriptional regulator has a devastating effect on the central nervous system. One of the most severe and life-threatening presentations of this syndrome is brainstem dysfunction, which results in autonomic disturbances such as breathing deficits, typified by episodes of breathing cessation intercalated with episodes of hyperventilation or irregular breathing. Defects in numerous neurotransmitter systems have been observed in Rett syndrome both in animal models and patients. Here we dedicate special attention to serotonin due to its role in promoting regular breathing, increasing vagal tone, regulating mood, alleviating Parkinsonian-like symptoms and potential for therapeutic translation. A promising new symptomatic strategy currently focuses on regulation of serotonergic function using highly selective serotonin type 1A (5-HT1A) “biased agonists.” We address this newly emerging therapy for respiratory brainstem dysfunction and challenges for translation with a holistic perspective of Rett syndrome, considering potential mood and motor effects. PMID:24910619

  5. Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome.

    Science.gov (United States)

    Egawa, Kiyoshi; Kitagawa, Kyoko; Inoue, Koichi; Takayama, Masakazu; Takayama, Chitoshi; Saitoh, Shinji; Kishino, Tatsuya; Kitagawa, Masatoshi; Fukuda, Atsuo

    2012-12-05

    Angelman syndrome is a neurodevelopmental disorder caused by loss of function of the UBE3A gene encoding a ubiquitin E3 ligase. Motor dysfunction is a characteristic feature of Angelman syndrome, but neither the mechanisms of action nor effective therapeutic strategies have yet been elucidated. We report that tonic inhibition is specifically decreased in cerebellar granule cells of Ube3a-deficient mice, a model of Angelman syndrome. As a mechanism underlying this decrease in tonic inhibition, we show that Ube3a controls degradation of γ-aminobutyric acid (GABA) transporter 1 (GAT1) and that deficiency of Ube3a induces a surplus of GAT1 that results in a decrease in GABA concentrations in the extrasynaptic space. Administering low doses of 4,5,6,7-tetrahydroisothiazolo-[5,4-c]pyridin-3-ol (THIP), a selective extrasynaptic GABA(A) receptor agonist, improves the abnormal firing properties of a population of Purkinje cells in cerebellar brain slices and reduces cerebellar ataxia in Ube3a-deficient mice in vivo. These results suggest that pharmacologically increasing tonic inhibition may be a useful strategy for alleviating motor dysfunction in Angelman syndrome.

  6. Nutrition, insulin resistance and dysfunctional adipose tissue determine the different components of metabolic syndrome

    Science.gov (United States)

    Paniagua, Juan Antonio

    2016-01-01

    Obesity is an excessive accumulation of body fat that may be harmful to health. Today, obesity is a major public health problem, affecting in greater or lesser proportion all demographic groups. Obesity is estimated by body mass index (BMI) in a clinical setting, but BMI reports neither body composition nor the location of excess body fat. Deaths from cardiovascular diseases, cancer and diabetes accounted for approximately 65% of all deaths, and adiposity and mainly abdominal adiposity are associated with all these disorders. Adipose tissue could expand to inflexibility levels. Then, adiposity is associated with a state of low-grade chronic inflammation, with increased tumor necrosis factor-α and interleukin-6 release, which interfere with adipose cell differentiation, and the action pattern of adiponectin and leptin until the adipose tissue begins to be dysfunctional. In this state the subject presents insulin resistance and hyperinsulinemia, probably the first step of a dysfunctional metabolic system. Subsequent to central obesity, insulin resistance, hyperglycemia, hypertriglyceridemia, hypoalphalipoproteinemia, hypertension and fatty liver are grouped in the so-called metabolic syndrome (MetS). In subjects with MetS an energy balance is critical to maintain a healthy body weight, mainly limiting the intake of high energy density foods (fat). However, high-carbohydrate rich (CHO) diets increase postprandial peaks of insulin and glucose. Triglyceride-rich lipoproteins are also increased, which interferes with reverse cholesterol transport lowering high-density lipoprotein cholesterol. In addition, CHO-rich diets could move fat from peripheral to central deposits and reduce adiponectin activity in peripheral adipose tissue. All these are improved with monounsaturated fatty acid-rich diets. Lastly, increased portions of ω-3 and ω-6 fatty acids also decrease triglyceride levels, and complement the healthy diet that is recommended in patients with MetS. PMID

  7. [Increased homocysteine levels in polycystic ovary syndrome].

    Science.gov (United States)

    de la Calle, María; Gallardo, Teresa; Diestro, M Dolores; Hernanz, Angel; Pérez, Elia; Fernández-Miranda, Consuelo

    2007-09-08

    Women with polycystic ovary syndrome (PCOS) exhibit frequently risk factors that predispose to cardiovascular disease. Hyperhomocysteinemia is an independent risk factor for this disease. The aim of this study was to know whether young women with PCOS have increased homocysteine levels. We also analyzed their possible relation with folate and vitamin B12 levels. Thirty nine patients with PCOS were studied; (age: mean [standard deviation] 28.9 [5.8] years), and 39 healthy women similar in age. We evaluated in all of them: smoking, menstrual cycles, hirsutism, body mass index, metabolic syndrome and levels of homocysteine, lipids, glucose, creatinine, folate, vitamin B12, follicle-stimulating hormone (FSH), luteinizing hormone (LH) and androstendione. Menstrual cycles, hirsutism, androstendione, LH levels and LH/FSH were higher, as we expected, in patients with PCOS. Moreover, patients had increased homocysteine (9.1 [2.1] vs 6.4 [1.8] micromol/L; p 110 mg/dl) (23% vs 2.5%; p =.01) and lower folate levels (7.6 [3.7] vs 10.2 [3.6] ng/ml; p = 0.02). A multiple linear regression showed a negative association between homocysteine and folate levels (r2 = 0.05; p =.02). Homocysteinemia is increased in women with PCOS, and it is negatively associated with folate levels.

  8. Molecular biology of multiple organ dysfunction syndrome: injury, adaptation, and apoptosis.

    Science.gov (United States)

    Cobb, J P; Buchman, T G; Karl, I E; Hotchkiss, R S

    2000-01-01

    Injury will equal or surpass communicable disease in the year 2020 as the number one cause of lost disability-adjusted life-years worldwide. The major cause of "late death" after trauma is organ dysfunction, commonly as a complication of shock or sepsis. The pathophysiology of injury-induced organ dysfunction is poorly characterized but has been linked to systemic inflammation as a result of infection (either obvious or occult) or massive tissue injury (systemic inflammatory response syndrome, SIRS). Subsequent complications of organ dysfunction, including death, may also stem from immunosuppression characteristic of what has been called the counter-regulatory anti-inflammatory response syndrome (CARS). At the cellular level, injurious stimuli trigger adaptive stress responses that include changes in gene expression. Multiple organ dysfunction syndrome (MODS) is the summation of these stress responses to severe systemic injury, integrated at the cellular, organ, and host levels. We hypothesize that a complete understanding at the molecular level of the stress responses induced by injury will aid in the development of therapeutic strategies for treating MODS in the critically ill surgical patient. This paper reviews recent data from our Cellular Injury and Adaptation Laboratory relevant to our understanding of MODS pathophysiology, particularly as it relates to stress-induced cell death by apoptosis. Our data suggest that inhibition of stress-induced apoptosis may improve survival after severe injury.

  9. Gastrointestinal and Urologic Sphincter Dysfunction in Stiff Person Syndrome.

    Science.gov (United States)

    Dumitrascu, Oana M; Tsimerinov, Evgeny I; Lewis, Richard A

    2016-12-01

    Stiff person syndrome is a neurologic disorder characterized by axial rigidity leading to progressive disability, with broad clinical spectrum. We report 2 cases with unique clinical presentation. Two young men suffered progressive urinary retention requiring bladder catheterization, anorectal spasms and constipation, complicated subsequently with lower extremity trigger-induced spasms, and gait instability. Associated symptoms revealed brainstem involvement (vertigo, diplopia, and cranial neuropathies) and dysautonomia (abnormal sweating and orthostatic hypotension). Anal manometry demonstrated incomplete relaxation of the anal sphincter. The first case was associated with diabetes mellitus type I, did not respond to classical therapies, but was responsive to rituximab. The second case responded to intravenous immunoglobulin infusions. Paraneoplastic profiles were negative, and anti-GAD65 antibody titers remained elevated despite successful therapeutic responses. We want to raise awareness that stiff person syndrome can present with esophageal, anorectal, and urethral sphincter disturbance. Rituximab is a good therapeutic option in intractable cases.

  10. Treatment of Urinary Voiding Dysfunction Syndromes With Spinal Cord Stimulation

    OpenAIRE

    Yakovlev, Alexander E.; Resch, Beth E.

    2010-01-01

    This case report presents the use of spinal cord stimulation (SCS) in a patient with urinary incontinence who had previously undergone trial and implantation of InterStim therapy (Medtronic Neurological, Minneapolis, MN). The patient also experienced bilateral lower extremity pain and low back pain related to post-laminectomy syndrome. Having failed all conservative treatment, the patient underwent SCS trial and subsequent implantation. In the postoperative period using SCS therapy, the patie...

  11. Channelopathies and dendritic dysfunction in fragile X syndrome.

    Science.gov (United States)

    Brager, Darrin H; Johnston, Daniel

    2014-04-01

    Dendritic spine abnormalities and the metabotropic glutamate receptor theory put the focus squarely on synapses and protein synthesis as the cellular locus of fragile X syndrome. Synapses however, are only partly responsible for information processing in neuronal networks. Neurotransmitter triggered excitatory postsynaptic potentials (EPSPs) are shaped and integrated by dendritic voltage-gated ion channels. These EPSPs, and in some cases the resultant dendritic spikes, are further modified by dendritic voltage-gated ion channels as they propagate to the soma. If the resultant somatic depolarization is large enough, action potential(s) will be triggered and propagate both orthodromically down the axon, where it may trigger neurotransmitter release, and antidromically back into the dendritic tree, where it can activate and modify dendritic voltage-gated and receptor activated ion channels. Several channelopathies, both soma-dendritic (L-type calcium channels, Slack potassium channels, h-channels, A-type potassium channels) and axo-somatic (BK channels and delayed rectifier potassium channels) were identified in the fmr1-/y mouse model of fragile X syndrome. Pathological function of these channels will strongly influence the excitability of individual neurons as well as overall network function. In this chapter we discuss the role of voltage-gated ion channels in neuronal processing and describe how identified channelopathies in models of fragile X syndrome may play a role in dendritic pathophysiology. Copyright © 2014 Elsevier Inc. All rights reserved.

  12. Dysfunction of autophagy and endosomal-lysosomal pathways: Roles in pathogenesis of Down syndrome and Alzheimer's Disease.

    Science.gov (United States)

    Colacurcio, Daniel J; Pensalfini, Anna; Jiang, Ying; Nixon, Ralph A

    2018-01-01

    Individuals with Down syndrome (DS) have an increased risk of early-onset Alzheimer's Disease (AD), largely owing to a triplication of the APP gene, located on chromosome 21. In DS and AD, defects in endocytosis and lysosomal function appear at the earliest stages of disease development and progress to widespread failure of intraneuronal waste clearance, neuritic dystrophy and neuronal cell death. The same genetic factors that cause or increase AD risk are also direct causes of endosomal-lysosomal dysfunction, underscoring the essential partnership between this dysfunction and APP metabolites in AD pathogenesis. The appearance of APP-dependent endosome anomalies in DS beginning in infancy and evolving into the full range of AD-related endosomal-lysosomal deficits provides a unique opportunity to characterize the earliest pathobiology of AD preceding the classical neuropathological hallmarks. Facilitating this characterization is the authentic recapitulation of this endosomal pathobiology in peripheral cells from people with DS and in trisomy mouse models. Here, we review current research on endocytic-lysosomal dysfunction in DS and AD, the emerging importance of APP/βCTF in initiating this dysfunction, and the potential roles of additional trisomy 21 genes in accelerating endosomal-lysosomal impairment in DS. Collectively, these studies underscore the growing value of investigating DS to probe the biological origins of AD as well as to understand and ameliorate the developmental disability of DS. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Value of transcutaneous electric nerve stimulation in the treatment of myofascial pain dysfunction syndrome

    Directory of Open Access Journals (Sweden)

    Hina Handa

    2017-01-01

    Full Text Available Pain in facial region originating from both temporomandibular joint (TMJ and jaw muscles is a common clinical problem and is a diagnostic dilemma till today. There are many synonyms for this condition including myofascial pain dysfunction syndrome, mandibular dysfunction syndrome, and the TMJ dysfunction syndrome. With change in time, advances and new diagnostic criteria have been made in the diagnosis of myofascial pain syndrome, its epidemiology, clinical characteristics, and etiopathogenesis, but many unknowns remain. An integrated hypothesis has provided a greater understanding of the physiopathology of trigger points, which may allow the development of new diagnostic criteria and treatment of this chronic disease and combined pharmacological as well as physical therapy for the management of the disease. The purpose of this paper is to describe the multidisciplinary approach highlighting the effect of transcutaneous electric nerve stimulation (TENS for the treatment of a 60-year-old female who suffered from myofascial pain and 5-day TENS therapy for management of pain.

  14. Does endothelial dysfunction correlate with endocrinal abnormalities in patients with polycystic ovary syndrome?

    Science.gov (United States)

    Dube, Rajani

    2016-01-01

    To study and critically analyze the published evidence on correlation of hormonal abnormalities and endothelial dysfunction (ED) in polycystic ovary syndrome (PCOS) through a systematic review. The databases including MEDLINE, PubMed, Up-To-Date, and Science Direct were searched using Medical subject handling terms and free text term keywords such as endocrine abnormalities in PCOS, ED assessment in PCOS, ED in combination with insulin resistance (IR), hyperandrogenism (HA), increased free testosterone, free androgen index (FAI), gonadotrophin levels, luteinizing hormone (LH), prolactin, estrogen, adipocytokines to search trials, and observational studies published from January 1987 to September 2015. Authors of original studies were contacted for additional data when necessary. PCOS increases the risk of cardiovascular disease in women. ED, which is a reliable indicator of cardiovascular risk in general population, is seen in most (but not all) women with PCOS. IR, seen in 70% patients with PCOS, is associated with ED in these women, but patients can have normal endothelial function even in the presence of IR. Free testosterone and FAI are consistently associated with ED, but endothelial function can be normal despite HA. Estradiol (not estrone) appears to be protective against ED though estrone is the predominant estrogen produced in PCOS. Increased levels of adipocytokines (visfatin) are promising in predicting ED and cardiovascular risk. However, more studies are required focusing on direct correlation of levels of prolactin, LH, estrone, and visfatin with ED in PCOS. PMID:27843797

  15. Hippocampal dysfunction and cognitive impairment in Fragile-X Syndrome.

    Science.gov (United States)

    Bostrom, Crystal; Yau, Suk-Yu; Majaess, Namat; Vetrici, Mariana; Gil-Mohapel, Joana; Christie, Brian R

    2016-09-01

    Fragile-X Syndrome (FXS) is the most common form of inherited intellectual disability and the leading genetic cause of autism spectrum disorder. FXS is caused by transcriptional silencing of the Fragile X Mental Retardation 1 (Fmr1) gene due to a CGG repeat expansion, resulting in the loss of Fragile X Mental Retardation Protein (FMRP). FMRP is involved in transcriptional regulation and trafficking of mRNA from the nucleus to the cytoplasm and distal sites both in pre- and post-synaptic terminals. Consequently, FXS is a multifaceted disorder associated with impaired synaptic plasticity. One region of the brain that is significantly impacted by the loss of FMRP is the hippocampus, a structure that plays a critical role in the regulation of mood and cognition. This review provides an overview of the neuropathology of Fragile-X Syndrome, highlighting how structural and synaptic deficits in hippocampal subregions, including the CA1 exhibiting exaggerated metabotropic glutamate receptor dependent long-term depression and the dentate gyrus displaying hypofunction of N-methyl-d-aspartate receptors, contribute to cognitive impairments associated with this neurodevelopmental disorder. Copyright © 2016 Elsevier Ltd. All rights reserved.

  16. Klinefelter's Syndrome with Seizure, Pseudohypoparathyroidism Type Ib and Multiple Endocrine Dysfunctions

    Directory of Open Access Journals (Sweden)

    Chwen-Yi Yang

    2005-12-01

    Full Text Available Klinefelter's syndrome is rarely associated with hypocalcemia, especially pseudohypoparathyroidism (PHP type Ib. We describe a case of Klinefelter's syndrome associated with seizure, PHP type Ib and multiple endocrine dysfunctions. A 19-year-old Taiwanese male was admitted due to seizures with loss of consciousness. He had been diagnosed with Klinefelter's syndrome with seizure disorder and hypocalcemia 3 months previously. Physical examination revealed eunuchoidism but no osteodystrophy, while laboratory data revealed severe hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone. Chromosomal study showed 47, XXY. Osteoporosis was found on chest and abdominal radiography. Dense calcification in the cerebrum and cerebellum was shown on brain computed tomography and magnetic resonance imaging. Elevation of the patient's serum calcium level was noted after vitamin D and calcium carbonate supplements were given. Klinefelter's syndrome is rarely associated with PHP type Ib; our patient's hypocalcemia improved after long-term aggressive treatment.

  17. Dysfunction of intraflagellar transport-A causes hyperphagia-induced obesity and metabolic syndrome.

    Science.gov (United States)

    Jacobs, Damon T; Silva, Luciane M; Allard, Bailey A; Schonfeld, Michael P; Chatterjee, Anindita; Talbott, George C; Beier, David R; Tran, Pamela V

    2016-07-01

    Primary cilia extend from the plasma membrane of most vertebrate cells and mediate signaling pathways. Ciliary dysfunction underlies ciliopathies, which are genetic syndromes that manifest multiple clinical features, including renal cystic disease and obesity. THM1 (also termed TTC21B or IFT139) encodes a component of the intraflagellar transport-A complex and mutations in THM1 have been identified in 5% of individuals with ciliopathies. Consistent with this, deletion of murine Thm1 during late embryonic development results in cystic kidney disease. Here, we report that deletion of murine Thm1 during adulthood results in obesity, diabetes, hypertension and fatty liver disease, with gender differences in susceptibility to weight gain and metabolic dysfunction. Pair-feeding of Thm1 conditional knock-out mice relative to control littermates prevented the obesity and related disorders, indicating that hyperphagia caused the obese phenotype. Thm1 ablation resulted in increased localization of adenylyl cyclase III in primary cilia that were shortened, with bulbous distal tips on neurons of the hypothalamic arcuate nucleus, an integrative center for signals that regulate feeding and activity. In pre-obese Thm1 conditional knock-out mice, expression of anorexogenic pro-opiomelanocortin (Pomc) was decreased by 50% in the arcuate nucleus, which likely caused the hyperphagia. Fasting of Thm1 conditional knock-out mice did not alter Pomc nor orexogenic agouti-related neuropeptide (Agrp) expression, suggesting impaired sensing of changes in peripheral signals. Together, these data indicate that the Thm1-mutant ciliary defect diminishes sensitivity to feeding signals, which alters appetite regulation and leads to hyperphagia, obesity and metabolic disease. © 2016. Published by The Company of Biologists Ltd.

  18. Reactive airways dysfunction syndrome from acute inhalation of a dishwasher detergent powder.

    Science.gov (United States)

    Hannu, Timo J; Riihimäki, Vesa E; Piirilä, Päivi L

    2012-01-01

    Reactive airway dysfunction syndrome, a type of occupational asthma without a latency period, is induced by irritating vapour, fumes or smoke. The present report is the first to describe a case of reactive airway dysfunction syndrome caused by acute exposure to dishwater detergent containing sodium metasilicate and sodium dichloroisocyanurate. The diagnosis was based on exposure data, clinical symptoms and signs, as well as respiratory function tests. A 43-year-old nonatopic male apprentice cook developed respiratory symptoms immediately after exposure to a cloud of detergent powder that was made airborne by vigorous shaking of the package. In spirometry, combined obstructive and restrictive ventilatory impairment developed, and the histamine challenge test revealed bronchial hyper-responsiveness. Even routine handling of a strongly caustic detergent, such as filling a dishwasher container, is not entirely risk free and should be performed with caution.

  19. Reactive Airways Dysfunction Syndrome from Acute Inhalation of Dishwasher Detergent Powder

    Directory of Open Access Journals (Sweden)

    Timo J Hannu

    2012-01-01

    Full Text Available Reactive airway dysfunction syndrome, a type of occupational asthma without a latency period, is induced by irritating vapour, fumes or smoke. The present report is the first to describe a case of reactive airway dysfunction syndrome caused by acute exposure to dishwater detergent containing sodium metasilicate and sodium dichloroisocyanurate. The diagnosis was based on exposure data, clinical symptoms and signs, as well as respiratory function tests. A 43-year-old nonatopic male apprentice cook developed respiratory symptoms immediately after exposure to a cloud of detergent powder that was made airborne by vigorous shaking of the package. In spirometry, combined obstructive and restrictive ventilatory impairment developed, and the histamine challenge test revealed bronchial hyper-responsiveness. Even routine handling of a strongly caustic detergent, such as filling a dishwasher container, is not entirely risk free and should be performed with caution.

  20. Hormonal Modulation in Aging Patients with Erectile Dysfunction and Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Inês Campos Costa

    2013-01-01

    Full Text Available Erectile dysfunction (ED, metabolic syndrome (MetS, and hypogonadism are closely related, often coexisting in the aging male. Obesity was shown to raise the risk of ED and hypogonadism, as well as other endocrinological disturbances with impact on erectile function. We selected 179 patients referred for ED to our andrology unit, aiming to evaluate gonadotropins and estradiol interplay in context of ED, MetS, and hypogonadism. Patients were stratified into groups in accordance with the presence (or not of MetS and/or hypogonadism. Noticeable differences in total testosterone (TT and free testosterone (FT levels were found between patients with and without MetS. Men with MetS evidenced lower TT circulating levels with an increasing number of MetS parameters, for which hypertriglyceridemia and waist circumference strongly contributed. Regarding the hypothalamic-pituitary-gonadal axis, patients with hypogonadism did not exhibit raised LH levels. Interestingly, among those with higher LH levels, estradiol values were also increased. Possible explanations for this unexpected profile of estradiol may be the age-related adiposity, other estrogen-raising pathways, or even unknown mechanisms. Estradiol is possibly a molecule with further interactions beyond the currently described. Our results further enlighten this still unclear multidisciplinary and complex subject, raising new investigational opportunities.

  1. Thyroid dysfunction in Down's syndrome and screening for hypothyroidism in children and adolescents using capillary TSH measurement.

    LENUS (Irish Health Repository)

    Murphy, J

    2008-02-01

    Thyroid dysfunction is more common in individuals with Down\\'s syndrome (DS) than in the general population, whose clinical features can mask the presenting signs and symptoms of hypothyroidism. Biochemical screening is necessary; however, venepuncture may be difficult.

  2. New or Progressive Multiple Organ Dysfunction Syndrome in Pediatric Severe Sepsis: A Sepsis Phenotype With Higher Morbidity and Mortality

    NARCIS (Netherlands)

    Lin, J.C.; Spinella, P.C.; Fitzgerald, J.C.; Tucci, M.; Bush, J.L.; Nadkarni, V.M.; Thomas, N.J.; Weiss, S.L.; Lemson, J.; Sherring, C.; Bushell, T.

    2017-01-01

    OBJECTIVES: To describe the epidemiology, morbidity, and mortality of new or progressive multiple organ dysfunction syndrome in children with severe sepsis. DESIGN: Secondary analysis of a prospective, cross-sectional, point prevalence study. SETTING: International, multicenter PICUs. PATIENTS:

  3. Management of patients with rectocele, multiple pelvic floor dysfunctions and obstructed defecation syndrome

    Directory of Open Access Journals (Sweden)

    Sthela Maria Murad-Regadas

    2012-06-01

    Full Text Available CONTEXT: Management of patients with obstructed defecation syndrome is still controversial. OBJECTIVE: To analyze the efficacy of clinical, clinical treatment followed by biofeedback, and surgical treatment in patients with obstructed defecation, rectocele and multiple dysfunctions evaluated with echodefecography. METHODS: The study included 103 females aged 26-84 years with obstructed defecation, grade-II/III rectocele and multiple dysfunctions on echodefecography. Patients were distributed into three treatment groups and constipation scores were assigned. Group I: 34 (33% patients with significant improvement of symptoms through clinical management only. Group II: 14 (14% with improvement through clinical treatment plus biofeedback. Group III: 55 (53% referred to surgery due to treatment failure. RESULTS: Group I: 20 (59% patients had grade-II rectocele, 14 (41% grade-III. Obstructed defecation syndrome was associated with intussusception (41%, mucosal prolapse (41%, anismus (29%, enterocele (9% or 2 dysfunctions (23%. The average constipation score decreased significantly from 11 to 5. Group II: 11 (79% grade-II rectocele, 3 (21% grade-III, associated with intussusception (7%, mucosal prolapse (43%, anismus (71% or 2 dysfunctions (29%. There was significant decrease in constipation score from 13 to 6. Group III: 8 (15% grade-II rectocele, 47 (85% grade-III, associated with intussusception (42%, mucosal prolapse (40% or 2 dysfunctions (32%. The constipation score remained unchanged despite clinical treatment and biofeedback. Twenty-three underwent surgery had a significantly decrease in constipation score from 12 to 4. The remaining 32 (31% patients which 22 refused surgery, 6 had low anal pressure and 4 had slow transit. CONCLUSIONS: Approximately 50% of patients with obstructed defecation, rectocele and multiple dysfunctions presented a satisfactory response to clinical treatment and/or biofeedback. Surgical repair was mainly required in

  4. Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome.

    Science.gov (United States)

    Wu, Teddy Y; Taylor, Jennifer M; Kilfoyle, Dean H; Smith, Andrew D; McGuinness, Ben J; Simpson, Mark P; Walker, Elizabeth B; Bergin, Peter S; Cleland, James C; Hutchinson, David O; Anderson, Neil E; Snow, Barry J; Anderson, Tim J; Paermentier, Laura A F; Cutfield, Nick J; Chancellor, Andrew M; Mossman, Stuart S; Roxburgh, Richard H

    2014-10-01

    Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative ganglionopathy. Prompted by the presence of symptomatic postural hypotension in two patients with CANVAS, we hypothesized that autonomic dysfunction may be an associated feature of the syndrome. We assessed symptoms of autonomic dysfunction and performed autonomic nervous system testing among 26 patients from New Zealand. After excluding three patients with diabetes mellitus, 83% had evidence of autonomic dysfunction; all patients had at least one autonomic symptom and 91% had more than two symptoms. We also found a higher rate of downbeat nystagmus (65%) than previously described in CANVAS. We confirmed that sensory findings on nerve conduction tests were consistent with a sensory ganglionopathy and describe two patients with loss of trigeminal sensation consistent with previous pathological descriptions of trigeminal sensory ganglionopathy. Our results suggest that autonomic dysfunction is a major feature of CANVAS. This has implications for the management of patients with CANVAS as the autonomic symptoms may be amenable to treatment. The findings also provide an important differential diagnosis from multiple system atrophy for patients who present with ataxia and autonomic failure. © The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  5. Sex hormone imbalances and adipose tissue dysfunction impacting on metabolic syndrome; a paradigm for the discovery of novel adipokines.

    Science.gov (United States)

    Zhang, Hui; Sairam, M Ram

    2014-02-01

    Sex hormone imbalance is causally related with visceral adipose tissue (AT) dysfunction and visceral obesity - an etiological component of metabolic syndrome (MetS), associated with high risk of both cardiovascular disease (CVD) and type 2 diabetes. In general, premenopausal women appear to be protected from CVD and the dramatic decline in sex steroid hormone occurring during menopausal transitions or other sex-related disorders influence the regional distribution, function, and metabolism of AT and increase the risk of CVD. Visceral AT dysfunction, manifesting as abnormality of fatty acid metabolism, increased oxidative stress, endothelial dysfunction, and excessive production of adipokines have been proposed in the pathogenesis of MetS. However, direct evidence of molecular mechanisms of depot-specific AT alterations, and dysfunction causally related to MetS is limited in studies on postmenopausal women due to difficulty in collecting discrete AT specimens at different ages and repeated sampling from different fat depots. This can be overcome using animal models that can mimic the cluster of pathology leading to MetS and help establish the molecular basis of links between loss of gonadal function on various AT depots and their contribution to MetS. Our group used sex hormone imbalance FSH receptor knock out (FORKO) female mice to recapitulate different aspects of the MetS and addressed the mechanism of visceral obesity related to MetS and discover two novel sex steroid hormone-regulated deep mesenteric estrogen-dependent adipose (MEDAs) genes. Taken together, such recent studies raise hopes for pharmacologic intervention strategies targeting sex steroid hormone signaling in AT to provide protection against AT dysfunction.

  6. GABAergic circuit dysfunction in the Drosophila Fragile X syndrome model.

    Science.gov (United States)

    Gatto, Cheryl L; Pereira, Daniel; Broadie, Kendal

    2014-05-01

    Fragile X syndrome (FXS), caused by loss of FMR1 gene function, is the most common heritable cause of intellectual disability and autism spectrum disorders. The FMR1 protein (FMRP) translational regulator mediates activity-dependent control of synapses. In addition to the metabotropic glutamate receptor (mGluR) hyperexcitation FXS theory, the GABA theory postulates that hypoinhibition is causative for disease state symptoms. Here, we use the Drosophila FXS model to assay central brain GABAergic circuitry, especially within the Mushroom Body (MB) learning center. All 3 GABAA receptor (GABAAR) subunits are reportedly downregulated in dfmr1 null brains. We demonstrate parallel downregulation of glutamic acid decarboxylase (GAD), the rate-limiting GABA synthesis enzyme, although GABAergic cell numbers appear unaffected. Mosaic analysis with a repressible cell marker (MARCM) single-cell clonal studies show that dfmr1 null GABAergic neurons innervating the MB calyx display altered architectural development, with early underdevelopment followed by later overelaboration. In addition, a new class of extra-calyx terminating GABAergic neurons is shown to include MB intrinsic α/β Kenyon Cells (KCs), revealing a novel level of MB inhibitory regulation. Functionally, dfmr1 null GABAergic neurons exhibit elevated calcium signaling and altered kinetics in response to acute depolarization. To test the role of these GABAergic changes, we attempted to pharmacologically restore GABAergic signaling and assay effects on the compromised MB-dependent olfactory learning in dfmr1 mutants, but found no improvement. Our results show that GABAergic circuit structure and function are impaired in the FXS disease state, but that correction of hypoinhibition alone is not sufficient to rescue a behavioral learning impairment. Copyright © 2014 Elsevier Inc. All rights reserved.

  7. First reported case of reactive airway dysfunction syndrome in a laborer due to porcelain tile dust.

    Science.gov (United States)

    Arif, Tasleem; Malik, Javid Ahmad; Shoib, Sheikh

    2013-06-01

    Reactive airway dysfunction syndrome (RADS) is a type of non-immunologically mediated asthma-like disease. It usually occurs after a massive exposure to an irritating substance in the atmosphere in the form of smoke, fumes, gases, and vapor. Unlike bronchial asthma, there is no latency to the symptoms seen in RADS. A number of agents are known to cause RADS, but tile dust, as an etiological agent, has not been previously reported. We report a 45-year-old male laborer, who presented with an acute onset of cough, chest tightness, breathlessness, and audible wheeze after his first time exposure to porcelain tile dust within 5 hours of exposure. Lab tests, including, chest X-ray, electrocardiogram, air blood gas analysis, and serum IgE, were unremarkable. Spirometry showed a mild obstruction [forced expiratory volume in 1 second (FEV1)=72% of predicted], while the bronchodilator reversibility test was significant(14% increase in FEV1 above the baseline).Bronchial biopsy revealed a chronic inflammatory reaction with lymphocytic and plasma cell infiltration and more importantly a striking absence of eosinophils. To the best of our knowledge, this is the first reported case of RADS as a result of exposure to tile dust (porcelain ceramics).

  8. Molecular and cellular mechanisms of tight junction dysfunction in the irritable bowel syndrome.

    Science.gov (United States)

    Cheng, Peng; Yao, Jianning; Wang, Chunfeng; Zhang, Lianfeng; Kong, Wuming

    2015-09-01

    The pathophysiological mechanisms of the irritable bowel syndrome (IBS), one of the most prevalent gastrointestinal disorders, are complex and have not been fully elucidated. The present study aimed to investigate the molecular and cellular mechanisms of tight junction (TJ) dysfunction in IBS. Intestinal tissues of IBS and non‑IBS patients were examined to observe cellular changes by cell chemical tracer electron microscopy and transmission electron microscopy, and intestinal claudin‑1 protein was detected by immunohistochemistry, western blot analysis and fluorescence quantitative polymerase chain reaction. Compared with the control group, TJ broadening and the tracer extravasation phenomenon were observed in the diarrhea‑predominant IBS group, and a greater number of neuroendocrine cells and mast cells filled with high‑density particles in the endocrine package pulp as well as a certain extent of vacuolization were present. The expression of claudin‑1 in diarrhea‑predominant IBS patients was decreased, while it was increased in constipation‑predominant IBS patients. In conclusion, the results of the present study indicated that changes in cellular structure and claudin‑1 levels were associated with Tjs in IBS.

  9. Pathophysiological studies of overactive bladder and bladder motor dysfunction in a rat model of metabolic syndrome.

    Science.gov (United States)

    Lee, Wei-Chia; Chuang, Yao-Chi; Chiang, Po-Hui; Chien, Chiang-Ting; Yu, Hong-Jeng; Wu, Chia-Ching

    2011-07-01

    We studied bladder motor dysfunction and searched for markers of neurogenic and myogenic alterations among fructose fed rats with or without abnormal voiding behavior. Female Wistar rats were fed with a fructose rich diet (60%) or a normal diet for 6 months. Based on cystometry and voiding behavior the fructose fed rats were divided into 3 groups, including a group with normal detrusor function with normal micturition frequency, a group with detrusor overactivity with increased micturition frequency and a group with acontractile detrusor with increased micturition frequency. Denuded bladder tissues were obtained to assess in vitro detrusor contractility, postsynaptic receptors, smoothelin, nitrosative products and the intrinsic pathway of apoptosis. Fructose fed rats with abnormal voiding behavior had obvious neurogenic and myogenic alterations, including increased expression of postsynaptic receptors, dysregulation of smoothelin and decreased expression of Bcl-2 with a subsequent increase in apoptotic cells in the bladder stroma, causing decreased carbachol induced contractility. Rats with detrusor overactivity were also insulted by nitrosative stress associated with nitrotyrosine up-regulation in the bladder tissue. Up-regulation of M(2) and M(3)-muscarinic receptors, and P2X(1) receptors appeared to be generalized alterations of fructose fed rats and not exclusive to those with detrusor overactivity. Up-regulation of postsynaptic receptors and dysregulation of smoothelin contribute to overactive bladder symptoms in rats with metabolic syndrome. Nitrosative stress and decreased Bcl-2 expression lead to bladder muscle cell loss via the intrinsic pathway of apoptosis, which may further deteriorate bladder function. Copyright © 2011 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  10. Audio-Vestibular Findings in Increased Intracranial Hypertension Syndrome.

    Science.gov (United States)

    Çoban, Kübra; Aydın, Erdinç; Özlüoğlu, Levent Naci

    2017-04-01

    Idiopathic intracranial hypertension (IIH) can be manifested by audiological and vestibular complaints. The aim of the present study is to determine the audio-vestibular pathologies and their pathophysiologies in this syndrome by performing current audio-vestibular tests. The study was performed prospectively on 40 individuals (20 IIH patients, 20 healthy volunteers). Pure tone audiometry, tympanometry, vestibular evoked myogenic potentials, and electronystagmography tests were performed in both groups and the results were compared. The mean age of both groups was found to be 30.2±18.7. There were 11 females and 9 males in each group. The study group patients had significantly worse hearing levels. Pure tone averages were significantly higher in both ears of the study group (pvestibular systems are frequently affected in this condition. Our test results suggest inner ear pathologies in these patients. Higher incidence of inferior vestibular nerve and/or saccule dysfunction is detected as a novelty. Increased intracranial pressure may affect the inner ear with similar mechanisms as in hydrops.

  11. Meibomian gland dysfunction in a case of ichthyosis follicularis with alopecia and photophobia syndrome.

    Science.gov (United States)

    Fatima, Tarannum; Mathur, Umang; Acharya, Manisha

    2014-03-01

    We are reporting an interesting case of ichthyosis follicularis with alopecia and photophobia syndrome in a daughter and father from the Indian subcontinent associated with Meibomian gland dysfunction. A three-year-old female child presented with pain, redness and severe photophobia in both eyes since one month. Cutaneous examination revealed ichthyosis, absence of hair all over the body including eyebrows, scalp and angular cheilosis. Ocular examination revealed bilateral severe meibomianitis, multiple superficial punctate keratitides in right eye and corneal epithelial defect in the left eye. Other systemic features were prominent high forehead and large ears. Her father had similar symptoms. Her symptoms improved after adequate treatment of meibomian gland dysfunction. She is asymptomatic at present.

  12. Overactive bladder and autonomic dysfunction: Lower urinary tract symptoms in females with postural tachycardia syndrome.

    Science.gov (United States)

    Kaufman, Melissa R; Chang-Kit, Laura; Raj, Satish R; Black, Bonnie K; Milam, Douglas F; Reynolds, W Stuart; Biaggioni, Italo; Robertson, David; Dmochowski, Roger R

    2017-03-01

    Postural Tachycardia Syndrome (POTS) represents an autonomic disorder predominantly affecting females between 15 and 50 years of age. POTS is a chronic disorder (>6 months) characterized by an excessive heart rate increment on standing (>30 beats/min) in the presence of characteristic symptoms of cerebral hypoperfusion or sympathetic activation. Patients have clinically been noted to describe lower urinary tract symptoms (LUTS), although urologic symptoms have not been methodically assessed in the POTS population. Herein, we present data from a pilot study designed to identify and quantitate overactive bladder (OAB) in patients diagnosed with POTS. Patients admitted to the Vanderbilt Autonomic Dysfunction Center between June 2009 and October 2010 for evaluation for the potential diagnosis of POTS completed a validated, standardized questionnaire for OAB (OAB-q) at presentation. Symptom score and subscale analyses were conducted. Subscale health related quality of life (HRQL) scores were transformed into a 0-100 scale, with higher scores reflecting superior HRQL. Data are presented as mean ± SD. Thirty-two females presented for evaluation of symptoms consistent with POTS. Twenty-nine women were subsequently diagnosed with POTS with 19 of these patients completing the OAB-q questionnaire (65.5% response rate). Average age was 33.5 ± 8.3 years. Symptom severity transformed score was 26.0 ± 16.4, with 13 of 19 patients (68.4%) meeting clinical criteria for diagnosis of probable clinically significant OAB. Nocturia was the most bothersome symptom, followed by increased daytime frequency and urgency. This pilot study describes bothersome lower urinary tract dysfunction in patients presenting with POTS as assessed by patient-reported questionnaire data. Nocturia demonstrated the greatest negative impact on health-related quality of life (HRQL), while social interaction was the least affected HRQL domain. In patients with dysautonomia, this data provides a

  13. Increased prevalence of autoimmunity in Turner syndrome

    DEFF Research Database (Denmark)

    Mortensen, K H; Cleemann, L; Hjerrild, B E

    2009-01-01

    Individuals with Turner syndrome (TS) are prone to develop autoimmune conditions such as coeliac disease (CD), thyroiditis and type 1 diabetes (T1DM). The objective of the present study was to examine TS of various karyotypes for autoantibodies and corresponding diseases. This was investigated...

  14. Increased prevalence of migraine in Marfan syndrome

    NARCIS (Netherlands)

    Vis, Jeroen C.; Timmermans, Janneke; Post, Martijn C.; Budts, Werner; Schepens, Marc A. A. M.; Thijs, Vincent; Schonewille, Wouter J.; de Bie, Rob M. A.; Plokker, Herbert W. M.; Tijssen, Jan G. P.; Mulder, Barbara J. M.

    2009-01-01

    OBJECTIVE: A high prevalence of migraine has been described in various forms of congenital heart disease, with and without shunt. In this study we investigated the prevalence of migraine in patients with Marfan syndrome (MFS). METHODS: All 457 adult patients with MFS from the participating centres

  15. Increased prevalence of migraine in Marfan syndrome.

    NARCIS (Netherlands)

    Vis, J.C.; Timmermans, J.; Post, M.C.; Budts, W.; Schepens, M.A.; Thijs, V.; Schonewille, W.J.; Bie, R.M. de; Plokker, H.W.M.; Tijssen, J.G.P.; Mulder, B.J.

    2009-01-01

    OBJECTIVE: A high prevalence of migraine has been described in various forms of congenital heart disease, with and without shunt. In this study we investigated the prevalence of migraine in patients with Marfan syndrome (MFS). METHODS: All 457 adult patients with MFS from the participating centres

  16. Increasing School Nurse Awareness of Turner Syndrome

    Science.gov (United States)

    Ardary, Darlene A.

    2007-01-01

    Turner syndrome, a genetic disorder that affects only females, can cause various physical, emotional, and educational disabilities. This disorder may go undiagnosed until school age or later. Short stature and lack of spontaneous puberty are common characteristics and can lead to teasing by peers. Some experience attention deficit and the…

  17. Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome.

    Directory of Open Access Journals (Sweden)

    Christopher S Ward

    Full Text Available Rett Syndrome (RTT is a neurodevelopmental disorder characterized by loss of acquired skills during development, autonomic dysfunction, and an increased risk for premature lethality. Clinical experience identified a subset of individuals with RTT that present with urological dysfunction including individuals with frequent urinary tract infections, kidney stones, and urine retention requiring frequent catheterization for bladder voiding. To determine if urologic dysfunction is a feature of RTT, we queried the Rett Syndrome Natural History Study, a repository of clinical data from over 1000 individuals with RTT and found multiple instances of urological dysfunction. We then evaluated urological function in a mouse model of RTT and found an abnormal pattern of micturition. Both male and female mice possessing Mecp2 mutations show a decrease in urine output per micturition event. Furthermore, we identified signs of kidney failure secondary to urethral obstruction. Although genetic strain background significantly affects both survival and penetrance of the urethral obstruction phenotype, survival and penetrance of urethral obstruction do not directly correlate. We have identified an additional phenotype caused by loss of MeCP2, urological dysfunction. Furthermore, we urge caution in the interpretation of survival data as an endpoint in preclinical studies, especially where causes of mortality are poorly characterized.

  18. Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome.

    Science.gov (United States)

    Ward, Christopher S; Huang, Teng-Wei; Herrera, José A; Samaco, Rodney C; Pitcher, Meagan R; Herron, Alan; Skinner, Steven A; Kaufmann, Walter E; Glaze, Daniel G; Percy, Alan K; Neul, Jeffrey L

    2016-01-01

    Rett Syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills during development, autonomic dysfunction, and an increased risk for premature lethality. Clinical experience identified a subset of individuals with RTT that present with urological dysfunction including individuals with frequent urinary tract infections, kidney stones, and urine retention requiring frequent catheterization for bladder voiding. To determine if urologic dysfunction is a feature of RTT, we queried the Rett Syndrome Natural History Study, a repository of clinical data from over 1000 individuals with RTT and found multiple instances of urological dysfunction. We then evaluated urological function in a mouse model of RTT and found an abnormal pattern of micturition. Both male and female mice possessing Mecp2 mutations show a decrease in urine output per micturition event. Furthermore, we identified signs of kidney failure secondary to urethral obstruction. Although genetic strain background significantly affects both survival and penetrance of the urethral obstruction phenotype, survival and penetrance of urethral obstruction do not directly correlate. We have identified an additional phenotype caused by loss of MeCP2, urological dysfunction. Furthermore, we urge caution in the interpretation of survival data as an endpoint in preclinical studies, especially where causes of mortality are poorly characterized.

  19. Caution for anabolic androgenic steroid use: a case report of multiple organ dysfunction syndrome.

    Science.gov (United States)

    Unai, Shinya; Miessau, Joseph; Karbowski, Pawel; Baram, Michael; Cavarocchi, Nicholas C; Hirose, Hitoshi

    2013-12-01

    We report a 42-year-old male amateur body builder and user of anabolic androgenic steroids, who developed ARDS, acute kidney injury, and refractory supraventricular tachycardia. He required extracorporeal membrane oxygenation, continuous veno-venous hemodialysis, and catheter ablation. We believe that long-term anabolic androgenic steroid abuse predisposed the patient to multiple organ dysfunction syndrome, from its immunomodulatory effects in an otherwise healthy patient. Anabolic androgenic steroid use should be part of the history taking process, since it may complicate diagnosis, disease progression, and prognosis.

  20. The lay concept of conduct disorder: do nonprofessionals use syndromal symptoms or internal dysfunction to distinguish disorder from delinquency?

    Science.gov (United States)

    Wakefield, Jerome C; Kirk, Stuart A; Pottick, Kathleen J; Hsieh, Derek K; Tian, Xin

    2006-03-01

    Conduct disorder (CD) must be distinguished from nondisordered delinquent behaviour to avoid false positives, especially when diagnosing youth from difficult environments. However, the nature of this distinction remains controversial. The DSM-IV observes that its own syndromal CD diagnostic criteria conflict with its definition of mental disorder, which requires that symptoms be considered a manifestation of internal dysfunction to warrant disorder diagnosis. Previous research indicates that professional judgments tend to be guided by the dysfunction requirement, not syndromal symptoms alone. However, there are almost no data on lay conceptualizations. Thus it remains unknown whether judgments about CD are anchored in a broadly shared understanding of mental disorder that provides a basis for professional-lay consensus. The present study tests which conception of CD, syndromal-symptoms or dysfunction-requirement, corresponds most closely to lay judgments of disorder or nondisorder and compares lay and professional judgments. We hypothesized that lay disorder judgments, like professional judgments, tend to presuppose the dysfunction requirement. Three lay samples (nonclinical social workers, nonpsychiatric nurses, and undergraduates) rated their agreement that youths described in clinical vignettes have a mental disorder. All vignettes satisfied DSM-IV CD diagnostic criteria. Vignettes were varied to present syndromal symptoms only, symptoms suggesting internal dysfunction, and symptoms resulting from reactions to negative circumstances, without dysfunction. All lay samples attributed disorder more often to youths whose symptoms suggested internal dysfunction than to youths with similar symptoms but without a likely dysfunction. The dysfunction requirement appears to reflect a widely shared lay and professional concept of disorder.

  1. Large vestibular aqueduct syndrome and endolymphatic hydrops: two presentations of a common primary inner-ear dysfunction?

    Science.gov (United States)

    Spiegel, J H; Lalwani, Anil K

    2009-08-01

    To present the theory that large vestibular aqueduct syndrome (i.e. the recognised existence of an enlarged vestibular aqueduct with progressive sensorineural hearing loss) and endolymphatic hydrops are due to a common primary dysfunction of inner-ear fluid homeostasis. Case report and review of the world literature concerning large vestibular aqueduct syndrome and endolymphatic hydrops. We report a family in which one sibling suffered from large vestibular aqueduct syndrome while the other had classic Ménière's disease. This suggests that large vestibular aqueduct syndrome and endolymphatic hydrops, in some cases, may be due to a common primary dysfunction of inner-ear fluid homeostasis. To our knowledge, this is the first report in the world literature to postulate that variation in the relative compliance of inner-ear membranes could be the factor that determines the manifestation of the disorder as either endolymphatic hydrops or large vestibular aqueduct syndrome.

  2. HIV and thyroid dysfunction.

    Science.gov (United States)

    Parsa, Alan A; Bhangoo, Amrit

    2013-06-01

    Human Immunodeficiency virus (HIV) infection and Acquired Immunodeficiency Syndrome (AIDS) are associated with dysfunction of many endocrine organs and their axis. HIV infectivity leads to altered metabolism, poor oral intake and increased prevalence of weight loss and wasting which may have a role in thyroid dysfunction. Overt thyroid dysfunction occurs at similar rates as the general population while subclinical disease such as nonthyroidal illness (sick euthyroid syndrome), subclinical hypothyroidism and isolated low T4 levels are more frequent. Moreover, HAART therapy can complicate thyroid function further through drug interactions and the immune reconstitution inflammatory syndrome (IRIS). In this review we report the common thyroid dysfunctions associated with HIV before and after HAART therapy. We discuss presentation, diagnostic work up, treatment and follow up in each condition.

  3. Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal-dystrophy (APECED) syndrome with gastrointestinal dysfunction.

    Science.gov (United States)

    Posovszky, C; Lahr, G; von Schnurbein, J; Buderus, S; Findeisen, A; Schröder, C; Schütz, C; Schulz, A; Debatin, K M; Wabitsch, M; Barth, T F

    2012-02-01

    Enteroendocrine (EE) cells are necessary for the regulation of gastrointestinal function. The lack of intestinal enteroendocrine cells in enteroendocrine cell dysgenesis causes severe malabsorptive diarrhea. Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is often accompanied by gastrointestinal (GI) symptoms. We hypothesized that an autoimmune attack against the cells of the GI-associated diffuse endocrine system may be a specific feature of GI dysfunction in APECED disorders. Biopsies were obtained during routine diagnostic endoscopy from 35 pediatric patients with gastrointestinal symptoms as well as from five healthy controls; biopsies were immunostained for chromogranin A and serotonin. Four patients were classified as APECED syndrome on molecular and clinical grounds. Immunohistological analysis of biopsies along the GI tract (stomach, duodenum, colon) immunostained with chromogranin A and serotonin revealed a widespread reduction or complete loss of EE cells in all four patients with APECED syndrome suffering from severe diarrhea, vomiting, malabsorption, or constipation. In contrast, EE cells were present in pediatric patients with similar gastrointestinal symptoms caused by inflammatory bowel disease, celiac disease, lymphocytic colitis, and autoimmune disorders without endocrinopathy or graft vs. host disease of the gut. The reduction of EE cells is a specific and important early event in the pathogenesis of APECED with GI dysfunction. We propose a diagnostic algorithm integrating clinics, genetics and immunohistology.

  4. C3 Glomerulopathy and Atypical Hemolytic Uremic Syndrome: Two Important Manifestations of Complement System Dysfunction

    Directory of Open Access Journals (Sweden)

    Ravneet Bajwa

    2018-02-01

    Full Text Available The advances in our understanding of the alternative pathway have emphasized that uncontrolled hyperactivity of this pathway causes 2 distinct disorders that adversely impact the kidney. In the so-called atypical hemolytic uremic syndrome (aHUS, renal dysfunction occurs along with thrombocytopenia, anemia, and target organ injury to multiple organs, most commonly the kidney. On the other hand, in the so-termed C3 glomerulopathy, kidney involvement is not associated with thrombocytopenia, anemia, or other system involvement. In this report, we present 2 cases of alternative pathway dysfunction. The 60-year-old female patient had biopsy-proven C3 glomerulopathy, while the 32-year-old female patient was diagnosed with aHUS based on renal dysfunction, thrombocytopenia, anemia, and normal ADAMTS-13 level. The aHUS patient was successfully treated with the monoclonal antibody (eculizumab for complement blockade. The patient with C3 glomerulopathy did not receive the monoclonal antibody. In this patient, management focused on blood pressure and proteinuria control with an angiotensin-converting enzyme inhibitor. This article focuses on the clinical differences, pathophysiology, and treatment of aHUS and C3 glomerulopathy.

  5. Vestibular dysfunction is a clinical feature of the Jervell and Lange-Nielsen Syndrome.

    Science.gov (United States)

    Winbo, Annika; Rydberg, Annika

    2015-02-01

    To investigate the possible association between Jervell and Lange-Nielsen Syndrome (JLNS) genotype and vestibular dysfunction. In 15 cases with JLNS, clinical data obtained from a semi-structured interview and full medical records were reviewed and post-rotatory nystagmus testing was performed. All genotyped cases (n = 14) had double KCNQ1 mutations. Symptoms of impaired balance were reported in 14/14 deaf JLNS cases. Gross motor developmental delay (not walking without support at 18 months of age) was seen in 11/12 cases with available data (mean age for walking: 24 months). A pathologic post-rotatory test was seen in 9/9 tested subjects, and in 3 subjects clinical testing had been performed showing complete lack of vestibular function. Vestibular dysfunction was seen in deaf JLNS cases with (n = 5) and without (n = 9) cochlear implants, including subjective symptoms (5/5 vs. 9/9) and gross motor developmental delay (5/5 vs. 6/8). We identified a high frequency of symptoms and signs associated with vestibular dysfunction in deaf JLNS cases, irrespective of previous cochlear implantation. Disruption of endolymph homeostasis in the inner ear, including cochlea and vestibular system, by profound KCNQ1 function loss is the proposed mechanism.

  6. Role of Oxidative Stress in the Neurocognitive Dysfunction of Obstructive Sleep Apnea Syndrome

    Directory of Open Access Journals (Sweden)

    Li Zhou

    2016-01-01

    Full Text Available Obstructive sleep apnea syndrome (OSAS is characterized by chronic nocturnal intermittent hypoxia and sleep fragmentations. Neurocognitive dysfunction, a significant and extraordinary complication of OSAS, influences patients’ career, family, and social life and reduces quality of life to some extent. Previous researches revealed that repetitive hypoxia and reoxygenation caused mitochondria and endoplasmic reticulum dysfunction, overactivated NADPH oxidase, xanthine oxidase, and uncoupling nitric oxide synthase, induced an imbalance between prooxidants and antioxidants, and then got rise to a series of oxidative stress (OS responses, such as protein oxidation, lipid peroxidation, and DNA oxidation along with inflammatory reaction. OS in brain could trigger neuron injury especially in the hippocampus and cerebral cortex regions. Those two regions are fairly susceptible to hypoxia and oxidative stress production which could consequently result in cognitive dysfunction. Apart from continuous positive airway pressure (CPAP, antioxidant may be a promising therapeutic method to improve partially reversible neurocognitive function. Understanding the role that OS played in the cognitive deficits is crucial for future research and therapeutic strategy development. In this paper, recent important literature concerning the relationship between oxidative stress and cognitive impairment in OSAS will be summarized and the results can provide a rewarding overview for future breakthrough in this field.

  7. Management of bladder dysfunction in Wolfram syndrome with Mitrofanoff appendicovesicostomy: long-term follow-up.

    Science.gov (United States)

    Mozafarpour, Sarah; Kajbafzadeh, Abdol-Mohammad; Mojtahed, Ali; Mojtahed, Mohammad; Mahboubi, Hossein; Shalileh, Keivan

    2015-07-01

    To present the long-term outcomes of appendicovesicostomy using the Mitrofanoff principle for end-stage Wolfram bladder dysfunction as an alternative to clean intermittent self-catheterization (CIC) per urethra mainly following blindness. Twelve Wolfram patients presenting with bilateral hydroureteronephrosis and advanced bladder dysfunction were included in this study. All patients were managed initially by CIC per urethra. All of these patients became blind during follow-up and were unable to perform urethral CIC independently. Out of these patients, six patients agreed to proceed to appendicovesicostomy. Appendicovesicostomy urinary diversion using the Mitrofanoff principle was performed in these six blind patients. The rest of the patients stopped CIC or performed CIC irregularly. Severe hydroureteronephrosis and large bladders were found in all patients prior to intervention. All patients were able to conduct CIC independently through the stoma and maintained overnight bladder free drainage. In all patients with urinary diversion and CIC, the hydroureteronephrosis was reduced and renal function returned to normal. However, the non-intervention group ended with different degrees of progressive renal failure with three mortalities during the follow-up. We suggest appendicovesicostomy as a safe and lifesaving procedure for long-term management of bladder dysfunction in Wolfram syndrome particularly after progression to blindness. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Statin ameliorates endothelial dysfunction and insulin resistance in Tibet women with polycystic ovary syndrome.

    Science.gov (United States)

    Yang, B; Sun, Z-J; Chen, B; Zhang, J; Zhao, H; Li, C-W; Cao, Y-K; Cao, F

    2016-01-01

    Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. In Tibet population, little is known about the correlation between PCOS and endothelial function and insulin resistance. In this study, we investigated the efficacy of simvastatin on ameliorating endothelial dysfunction and insulin resistance in Tibet patients with PCOS. A group of 21 PCOS women was compared with 21 age-paired controls for blood pressure, body mass index (BMI), lipids, glucose and insulin levels. Plasma ET-1 was quantitated using a commercially available ELISA kits. The invasive vascular endothelial function was evaluated through the measurement of brachial artery flow-mediated dilation (FMD) in the fasting state using high-resolution B-mode ultrasound and ankle-brachial index (ABI) by using a blood pressure cuff and a Doppler instrument. PCOS women had higher BMI (p Tibet PCOS patients present a clustering of atherosclerosis risk factors (obesity, adverse lipid profile, hypertension and hyperglycemia) and more prevalent in insulin resistance and endothelial dysfunction than non-PCOS women. The endothelial function and insulin resistance of PCOS patients were ameliorated The endothelial function and insulin resistance of PCOS patients were ameliorated after statin administration.

  9. Weight loss is associated with improved endothelial dysfunction via NOX2-generated oxidative stress down-regulation in patients with the metabolic syndrome.

    Science.gov (United States)

    Angelico, Francesco; Loffredo, Lorenzo; Pignatelli, Pasquale; Augelletti, Teresa; Carnevale, Roberto; Pacella, Antonio; Albanese, Fabiana; Mancini, Ilaria; Di Santo, Serena; Del Ben, Maria; Violi, Francesco

    2012-06-01

    The aim of this study was to assess whether adherence to a restricted-calorie, Mediterranean-type diet improves endothelial dysfunction and markers of oxidative stress in patients with metabolic syndrome. A moderately low-calorie (600 calories/day negative energy balance), low-fat, high-carbohydrate diet (fat, fat and 55% from carbohydrate) was prescribed to 53 outpatients with the metabolic syndrome. Participants were divided into two groups according to body weight loss > or weight (-6.8%), body-mass-index (-4.6%), waist circumference (-4.8%), HOMA-IR (-27.2%), plasma glucose, glycosylated haemoglobin, total and LDL-cholesterol, blood pressure, serum NOX2 (the catalytic core of NADPH oxidase) (-22.2%) and urinary8-isoprostanes (-39.0%) and an increase of serum NOx (Nitrite/Nitrate) (+116.8%) and adiponectine (+125.5%) as compared with those in group B (n = 30). A statistically significant increase in brachial artery flow-mediated dilatation was observed in group A (+24.7%; p weight loss is able to improve endothelial dysfunction in patients with the metabolic syndrome. The coexistent decrease of NOX2 activation suggests a role for oxidative stress in eliciting artery dysfunction.

  10. Nutrient-Induced Inflammation in Polycystic Ovary Syndrome: Role in the Development of Metabolic Aberration and Ovarian Dysfunction.

    Science.gov (United States)

    González, Frank

    2015-07-01

    A pathophysiology paradigm shift has emerged with the discovery that polycystic ovary syndrome (PCOS) is a proinflammatory state. Despite the dogma that the compensatory hyperinsulinemia of insulin resistance is the promoter of hyperandrogenism, physiological insulin infusion has no effect on androgen levels in PCOS. The dogma also does not explain the cause of hyperandrogenism and ovarian dysfunction in the 30 to 50% of women with PCOS who are of normal weight and lack insulin resistance. Inflammation is the underpinning of insulin resistance in obesity and type 2 diabetes, and may also be the cause of insulin resistance when present in PCOS. The origin of inflammation in PCOS has been ascribed to excess abdominal adiposity or frank obesity. However, nutrients such as glucose and saturated fat can incite inflammation from circulating mononuclear cells (MNC) of women with PCOS independent of excess adiposity and insulin resistance, and can also promote atherogenesis. Hyperandrogenism activates MNC in the fasting state to increase MNC sensitivity to nutrients, and is a potential mechanism for initiating inflammation in PCOS. However, chronic ovarian androgen suppression does not reduce inflammation in normal-weight women with PCOS. Direct exposure of ovarian theca cells to proinflammatory stimuli in vitro increases androgen production. These findings may be corroborated in vivo with anti-inflammatory therapy to normal-weight insulin-sensitive women with PCOS without abdominal adiposity to observe for amelioration of ovarian dysfunction. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  11. Affectionless control by the same-sex parents increases dysfunctional attitudes about achievement.

    Science.gov (United States)

    Otani, Koichi; Suzuki, Akihito; Matsumoto, Yoshihiko; Sadahiro, Ryoichi; Enokido, Masanori

    2014-08-01

    The affectionless control parenting has been associated with depression in recipients. The aim of this study was to examine the effect of this parenting style on dysfunctional attitudes predisposing to depression. The subjects were 666 Japanese volunteers. Perceived parental rearing was evaluated by the Parental Bonding Instrument, which has the care and protection subscales. Parental rearing was classified into four types, i.e., optimal parenting (high care/low protection), affectionate constraint (high care/high protection), neglectful parenting (low care/low protection), and affectionless control (low care/high protection). Dysfunctional attitudes were evaluated by the 24-item Dysfunctional Attitude Scale, which has the achievement, dependency and self-control subscales. Males with paternal affectionless control had higher achievement scores than those with paternal optimal parenting (P=.016). Similarly, females with maternal affectionless control had higher achievement scores than those with maternal optimal parenting (P=.016). The present study suggests that affectionless control by the same-sex parents increases dysfunctional attitudes about achievement. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

  12. Increased thallium lung uptake after exercise, a marker of left ventricular dysfunction

    International Nuclear Information System (INIS)

    Botsch, H.; Weidemann, H.; Zaharescu, A.

    1989-01-01

    Increased lung uptake of thallium-201 in patients during exercise stress testing has been found to be related to exercise-induced left ventricular dysfunction. In order to evaluate the lung uptakes as a parameter of left ventricular dysfunction we compared the lung uptake of thallium by visual analysis and by fitting a Lung/Heart-Ratio with the exercise-induced pulmonary capillary wedge pressure (PCP) in 73 patients with coronary heart disease. Assuming a PCP value of 23 mm Hg as the upper limit of normal left ventricular function, left ventricular dysfunction (L/H-ratio > 0.48) can be detected with a sensitivity of 84% and a specificity of 87%. Sensitivity and specificity of visual scan interpretation is 76 and 89%, respectively. Severe left ventricular dysfunction (PCP > 30 mm Hg) is detected by L/H-ratio in 96% and by visual interpretation in 93%. Evaluation of lung activity should be added to the routine interpretation of exercise thallium-201 myocardial imaging studies. (orig.) [de

  13. Metabolic syndrome in men with low testosterone levels: relationship with cardiovascular risk factors and comorbidities and with erectile dysfunction.

    Science.gov (United States)

    García-Cruz, Eduardo; Leibar-Tamayo, Asier; Romero, Javier; Piqueras, Marta; Luque, Pilar; Cardeñosa, Oscar; Alcaraz, Antonio

    2013-10-01

    Testosterone deficiency and metabolic syndrome (MetS) are strongly associated. Patients consulting for sexual dysfunction may have testosterone deficiency, providing a valuable opportunity to assess MetS. The identification of variables predicting MetS is of great importance. To identify cardiovascular comorbidities and risk factors, including erectile dysfunction (ED), associated with MetS in men aged≥45 with total testosterone (TT)testosterone was testosterone deficiency. Subjects with data for MetS assessment were included in this analysis. Other data available were anthropometrics, toxic habits, cardiovascular comorbidities, ED diagnosis, and TT values. The MetS harmonized definition was used. Waist circumference threshold was 94 cm. ED was diagnosed and classified using the International Index of Erectile Function-5 (IIEF-5) questionnaire. Bivariate and multivariate logistic regression analyses were performed to calculate odds ratios (ORs) for MetS. Mean age was 61.2±8.1 years. Prevalences of ED and MetS were 97.6% and 69%, respectively, both increasing with age. Bivariate analysis showed that moderate or severe ED, obesity, and peripheral vascular disease (PVD) were the variables associated with the greatest odds of MetS (OR=2.672 and 2.514, respectively), followed by alcohol intake (OR=1.911). Tobacco use, ag,e and testosterone deficiency severity had a minimal effect that disappeared on multivariate analysis. Elevated triglycerides and HDL-cholesterol were MetS risk factors associated with a lower TT level. The high prevalence of MetS among men with testosterone deficiency highlights the opportunity to assess cardiovascular health in patients consulting for sexual dysfunction. Moderate to severe ED, obesity, PVD, and alcohol intake significantly increase the likelihood of MetS. © 2013 International Society for Sexual Medicine.

  14. Integrated backscatter as a fibrosis marker in the metabolic syndrome: association with biochemical evidence of fibrosis and left ventricular dysfunction.

    Science.gov (United States)

    Kosmala, Wojciech; Przewlocka-Kosmala, Monika; Wojnalowicz, Anna; Mysiak, Andrzej; Marwick, Thomas H

    2012-06-01

    Myocardial fibrosis is an important contributor to heterogeneity of left ventricular (LV) dysfunction in the metabolic syndrome (MS). Comparison of strain with calibrated integrated backscatter (cIB) and serological fibrosis markers could provide a means to understand the association of cardiac function with markers of fibrosis. We studied 172 patients with MS (age 50 ± 13 years) and 61 healthy controls in a prospective, cross-sectional study. Echocardiographic evaluation included myocardial velocities and deformation, and calibrated cIB. Procollagen type III amino-terminal propeptide (PIIINP) and procollagen type I carboxy-terminal propeptide (PICP) were measured from serum. MS patients demonstrated LV systolic and diastolic function, and myocardial echodensity disturbances, as well as elevated serum PIIINP and PICP levels. For most functional variables, calibrated cIB in the basal septum was the strongest determinant of impaired LV performance, independent of higher procollagen levels, LV mass index, age, body mass index, creatinine level, and C-reactive protein. Patients with increased abdominal fat deposit (assessed by the waist-to-hip ratio) presented higher levels of procollagen peptides and septal calibrated cIB, and with more profound LV dysfunction as indicated by lower myocardial deformation and early diastolic velocity, and higher E/e'. Myocardial echodensity is a stronger correlate of LV systolic and diastolic dysfunction in MS, than circulating procollagen peptides. Both fibrosis and LV function abnormalities are increased at a higher waist-to-hip ratio, which might provide a rationale for the implementation of intensified therapy in this subset of patients.

  15. Metabolic Syndrome, Hormone Levels, and Inflammation in Patients with Erectile Dysfunction

    Directory of Open Access Journals (Sweden)

    Miguel Ángel Arrabal-Polo

    2012-01-01

    Full Text Available Background. The end point of this study was to investigate the prevalence of MS in patients with ED in comparison with control subjects and to analyse the association with acute phase reactants (CRP, ESR and hormone levels. Methods. This case-control study included 65 patients, 37 with erectile dysfunction, according to the International Index of Erectile Function (IIEF from the Urology Department of San Cecilio University Hospital, Granada (Spain and 28 healthy controls. The prevalence of metabolic syndrome was calculated according to ATP-III criteria. Hormone levels and acute phase parameters were studied in samples drawn. Results. The ATP-III criteria for MS were met by 64.9% of the patients with ED and only 9.5% of the controls (P<0.0001, OR = 17.53, 95% CI: 3.52–87.37. Binary logistic regression analysis showed a strong association between patients with ED and MS, even after additional adjustment for confounding factors (OR = 20.05, 95% CI: 1.24–32.82, P<0.034. Patients with hypogonadism presented a significantly higher prevalence of metabolic syndrome. Multiple linear regression analysis showed that systolic BP and CRP predicted 0.46 (model R2 of IIEF changes. Conclusion. Chronic inflammation found in patients with ED might explain the association between ED and metabolic syndrome.

  16. Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis.

    Science.gov (United States)

    Wragg, Ruth; Dias, Renuka P; Barrett, Timothy; McCarthy, Liam

    2018-02-01

    Wolfram syndrome is a rare genetic defect in WFS1 or WSF2(CISD2). It includes diabetes mellitus and insipidis, sensorineural deafness, optic atrophy, but not bladder dysfunction. However, this has appeared a common finding in our national referral clinic, and we sought to quantify this problem. Data were collected from a multidisciplinary team managing all Wolfram patients in the UK. The following was analyzed: age, date of non-invasive urodynamics (NIU), symptoms, bladder capacity, voided volume, post-void residual and uroflow pattern. Bladder capacity was given as percentage predicted bladder capacity (PBC). Bladders were divided into normal, overactive (OAB), and underactive (UAB). Symptoms, bladder behavior, and genotyping were correlated. Data were expressed as median (interquartile range). Forty patients with Wolfram syndrome were identified, and 38 underwent NIU. This showed normal bladder function (n=4), OAB (n=9), UAB (n=25). Symptoms were present in only 11 children. The different patterns of bladder behavior (OAB vs. normal vs. UAB) were significantly associated with different %PBC (36 (29-59)% vs. 105 (93-233)% vs. 100 (77.5-337)%; pWolfram syndrome (~90%), but most children cope (symptoms ~30%). With time there is a significant progression to megacystis, which may represent an underlying neuropathic myogenic failure and is likely to require intervention in the future. Level II (National cohort study of prognosis). Crown Copyright © 2017. Published by Elsevier Inc. All rights reserved.

  17. Genetic rodent models of obesity-associated ovarian dysfunction and subfertility: insights into polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Isabel eHuang-Doran

    2016-06-01

    Full Text Available Polycystic ovary syndrome (PCOS is the most common endocrinopathy affecting women, and a leading cause of female infertility worldwide. Defined clinically by the presence of hyperandrogenemia and oligomenorrhoea, PCOS represents a state of hormonal dysregulation, disrupted ovarian follicle dynamics, and subsequent oligo- or anovulation. The syndrome’s prevalence is attributed at least partly to a well-established association with obesity and insulin resistance (IR. Indeed, the presence of severe PCOS in human genetic obesity and IR syndromes supports a causal role for IR in the pathogenesis of PCOS. The molecular mechanisms underlying this causality, however, as well as the important role of hyperandrogenemia, remain poorly elucidated. As such, treatment of PCOS is necessarily empirical, focusing on symptom alleviation. The generation of knockout and transgenic rodent models of obesity and IR offer a promising platform in which to address mechanistic questions about reproductive dysfunction in the context of metabolic disease. The impact of primary perturbations in rodent gonadotrophin or androgen signaling has been similarly interrogated. The insights gained from such models, however, have been limited by the relatively poor fidelity of rodent models to human PCOS. In this minireview we evaluate the ovarian phenotypes associated with rodent models of obesity and IR, including the extent of endocrine disturbance, ovarian dysmorphology and subfertility. We compare them to both human PCOS and other animal models of the syndrome (genetic and hormonal, explore reasons for their discordance and consider the new opportunities that are emerging to better understand and treat this important condition.

  18. Methylglyoxal, A Metabolite Increased in Diabetes is Associated with Insulin Resistance, Vascular Dysfunction and Neuropathies.

    Science.gov (United States)

    Shamsaldeen, Yousif A; Mackenzie, Louise S; Lione, Lisa A; Benham, Christopher D

    2016-01-01

    Diabetes mellitus (DM) is a pandemic metabolic disease characterized by a chronically elevated blood glucose concentration (hyperglycemia) due to insulin dysfunction. Approximately 50% of diabetics show diabetes complications by the time they are diagnosed. Vascular dysfunction, nephropathy and neuropathic pain are common diabetes complications. Chronic hyperglycemia contributes to reactive oxygen species (ROS) generation such as methylglyoxal (MGO). Peer reviewed research papers were studied through bibliographic databases searching focused on review questions and inclusion/exclusion criteria. The reviewed papers were appraised according to the searching focus. The characteristics of screened papers were described, and a deductive qualitative content analysis methodology was applied to the included studies using a conceptual framework to yield this comprehensive systematic review. Sixty-six papers were included in this review. Eleven papers related methylglyoxal generation to carbohydrates metabolism, ten papers related lipid metabolism to methylglyoxal and 5 papers showed the proteolytic pathways that contribute to methylglyoxal generation. Methylglyoxal metabolism was derived from 7 papers. Descriptive figure 1 was drawn to explain methylglyoxal sources and how diabetes increases methylglyoxal generation. Furthermore, twenty-six papers related methylglyoxal to diabetes complications from which 9 papers showed methylglyoxal ability to induce insulin dysfunction, an effect which was described in schematic figure 2. Additionally, fifteen papers revealed methylglyoxal contribution to vascular dysfunction and 3 papers showed methylglyoxal to cause neuropathic pain. Methylglyoxal-induced vascular dysfunction was drawn in a comprehensive figure 3. This review correlated methylglyoxal with diabetes and diabetes complications which were summarised in table 1. The findings of this review suggesting methylglyoxal as an essential therapeutic target for managing diabetes in

  19. Both oophorectomy and obesity impaired solely hippocampal-dependent memory via increased hippocampal dysfunction.

    Science.gov (United States)

    Mantor, Duangkamol; Pratchayasakul, Wasana; Minta, Wanitchaya; Sutham, Wissuta; Palee, Siripong; Sripetchwandee, Jirapas; Kerdphoo, Sasiwan; Jaiwongkum, Thidarat; Sriwichaiin, Sirawit; Krintratun, Warunsorn; Chattipakorn, Nipon; Chattipakorn, Siriporn C

    2018-04-17

    Our previous study demonstrated that obesity aggravated peripheral insulin resistance and brain dysfunction in the ovariectomized condition. Conversely, the effect of obesity followed by oophorectomy on brain oxidative stress, brain apoptosis, synaptic function and cognitive function, particularly in hippocampal-dependent and hippocampal-independent memory, has not been investigated. Our hypothesis was that oophorectomy aggravated metabolic impairment, brain dysfunction and cognitive impairment in obese rats. Thirty-two female rats were fed with either a normal diet (ND, n = 16) or a high-fat diet (HFD, n = 16) for a total of 20 weeks. At week 13, rats in each group were subdivided into sham and ovariectomized subgroups (n = 8/subgroup). At week 20, all rats were tested for hippocampal-dependent and hippocampal-independent memory by using Morris water maze test (MWM) and Novel objective recognition (NOR) tests, respectively. We found that the obese-insulin resistant condition occurred in sham-HFD-fed rats (HFS), ovariectomized-ND-fed rats (NDO), and ovariectomized-HFD-fed rats (HFO). Increased hippocampal oxidative stress level, increased hippocampal apoptosis, increased hippocampal synaptic dysfunction, decreased hippocampal estrogen level and impaired hippocampal-dependent memory were observed in HFS, NDO, and HFO rats. However, the hippocampal-independent memory, cortical estrogen levels, cortical ROS production, and cortical apoptosis showed no significant difference between groups. These findings suggested that oophorectomy and obesity exclusively impaired hippocampal-dependent memory, possibly via increased hippocampal dysfunction. Nonetheless, oophorectomy did not aggravate these deleterious effects under conditions of obesity. Copyright © 2017. Published by Elsevier Inc.

  20. Additive Effect of Non-Alcoholic Fatty Liver Disease on Metabolic Syndrome-Related Endothelial Dysfunction in Hypertensive Patients

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    Maria Perticone

    2016-03-01

    Full Text Available Metabolic syndrome (MS is characterized by an increased risk of incident diabetes and cardiovascular (CV events, identifying insulin resistance (IR and endothelial dysfunction as key elements. Moreover, non-alcoholic fatty liver disease (NAFLD is bidirectionally linked with MS as a consequence of metabolic and inflammatory abnormalities. We addressed the question if the evolution in NAFLD might worsen endothelium-dependent vasodilating response in MS hypertensives. We recruited 272 Caucasian newly-diagnosed never-treated hypertensive outpatients divided into three groups according to the presence/absence of MS alone or in combination with NAFLD. MS and NAFLD were defined according to the National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATPIII and non-invasive fatty liver index, respectively. We determined IR by using the homeostasis model assessment (HOMA index. Vascular function, as forearm blood flow (FBF, was determined through strain-gauge plethysmography after intra-arterial infusion of acetylcholine (ACh and sodium nitroprusside. MS+NAFLD+ group showed worse metabolic, inflammatory and vascular profiles compared with MS−NAFLD− and MS+NAFLD−. HOMA resulted in being the strongest predictor of FBF both in the MS+NAFLD− and in the MS+NAFLD+ groups, accounting for 20.5% and 33.2% of its variation, respectively. In conclusion, we demonstrated that MS+NAFLD+ hypertensives show a worse endothelium-dependent vasodilation compared with MS+NAFLD−, allowing for consideration of NAFLD as an early marker of endothelial dysfunction in hypertensives.

  1. Dysfunctional tear syndrome: dry eye disease and associated tear film disorders – new strategies for diagnosis and treatment

    Science.gov (United States)

    Milner, Mark S.; Beckman, Kenneth A.; Luchs, Jodi I.; Allen, Quentin B.; Awdeh, Richard M.; Berdahl, John; Boland, Thomas S.; Buznego, Carlos; Gira, Joseph P.; Goldberg, Damien F.; Goldman, David; Goyal, Raj K.; Jackson, Mitchell A.; Katz, James; Kim, Terry; Majmudar, Parag A.; Malhotra, Ranjan P.; McDonald, Marguerite B.; Rajpal, Rajesh K.; Raviv, Tal; Rowen, Sheri; Shamie, Neda; Solomon, Jonathan D.; Stonecipher, Karl; Tauber, Shachar; Trattler, William; Walter, Keith A.; Waring, George O.; Weinstock, Robert J.; Wiley, William F.; Yeu, Elizabeth

    2017-01-01

    Dysfunctional tear syndrome (DTS) is a common and complex condition affecting the ocular surface. The health and normal functioning of the ocular surface is dependent on a stable and sufficient tear film. Clinician awareness of conditions affecting the ocular surface has increased in recent years because of expanded research and the publication of diagnosis and treatment guidelines pertaining to disorders resulting in DTS, including the Delphi panel treatment recommendations for DTS (2006), the International Dry Eye Workshop (DEWS) (2007), the Meibomian Gland Dysfunction (MGD) Workshop (2011), and the updated Preferred Practice Pattern guidelines from the American Academy of Ophthalmology pertaining to dry eye and blepharitis (2013). Since the publication of the existing guidelines, new diagnostic techniques and treatment options that provide an opportunity for better management of patients have become available. Clinicians are now able to access a wealth of information that can help them obtain a differential diagnosis and treatment approach for patients presenting with DTS. This review provides a practical and directed approach to the diagnosis and treatment of patients with DTS, emphasizing treatment that is tailored to the specific disease subtype as well as the severity of the condition. PMID:28099212

  2. Endothelial dysfunction in hyperandrogenic polycystic ovary syndrome is not explained by either obesity or ectopic fat deposition.

    Science.gov (United States)

    Sprung, Victoria S; Jones, Helen; Pugh, Christopher J A; Aziz, Nabil F; Daousi, Christina; Kemp, Graham J; Green, Daniel J; Cable, N Timothy; Cuthbertson, Daniel J

    2014-01-01

    PCOS (polycystic ovary syndrome) is associated with IR (insulin resistance), increased visceral fat and NAFLD (non-alcoholic fatty liver disease) all of which may contribute to endothelial dysfunction, an early marker of CVD (cardiovascular disease) risk. Our objective was to examine the relationships between endothelial dysfunction in PCOS, the volume of AT (adipose tissue) compartments and the size of intracellular TAG (triacylglycerol) pools in liver and skeletal muscle. A total of 19 women with PCOS (means±S.D.; 26±6 years, 36±5 kg/m2) and 16 control women (31±8 years, 30±6 kg/m2) were recruited. Endothelial function was assessed in the brachial artery using FMD (flow-mediated dilation). VAT (visceral AT) and abdominal SAT (subcutaneous AT) volume were determined by whole body MRI, and liver and skeletal muscle TAG by 1H-MRS (proton magnetic resonance spectroscopy). Cardiorespiratory fitness and HOMA-IR (homoeostasis model assessment of IR) were also determined. Differences between groups were analysed using independent Student's t tests and ANCOVA (analysis of co-variance). FMD was impaired in PCOS by 4.6% [95% CI (confidence interval), 3.0-7.7; P<0.001], and this difference decreased only slightly to 4.2% (95% CI, 2.4-6.1; P<0.001) when FMD was adjusted for individual differences in visceral and SAT and HOMA-IR. This magnitude of impairment was also similar in lean and obese PCOS women. The results suggest that endothelial dysfunction in PCOS is not explained by body fat distribution or volume. FMD might be a useful independent prognostic tool to assess CVD risk in this population.

  3. Motor dysfunction in complex regional pain syndrome : the role of sensory processing and sensory-motor integration

    NARCIS (Netherlands)

    Bank, Paulina Johanna Maria

    2014-01-01

    In the chronic stage of Complex Regional Pain Syndrome (CRPS), motor disturbances are common and cause significant disability. The motor dysfunction of CRPS is a poorly understood phenomenon that is characterized predominantly by a decrease or loss of voluntary muscle control. This thesis aims to

  4. The relevance of urodynamic studies for Urge syndrome and dysfunctional voiding: a multicenter controlled trial in children

    NARCIS (Netherlands)

    Bael, An; Lax, Hildegard; de Jong, Tom P. V. M.; Hoebeke, Piet; Nijman, Rien J. M.; Sixt, Rune; Verhulst, John; Hirche, Herbert; van Gool, Jan D.; Walle, J. Vande; Hoebeke, P.; van Hoecke, E.; Renson, K.; de Paepe, H.; Bael, A. M.; Olbing, H.; Tamminen-Möbius, T.; Gäbel, E.; Lettgen, B.; Bald, M.; Rübben, H.; Bachmann, H.; Heilenkötter, K.; Janhsen, E.; Misselwitz, J.; John, U.; Güntek, S.; Schubert, J.; van Gool, J. D.; Dik, P.; Winkler-Seinstra, P.; Knopper-Stolker, G.; de Bruyn, E.; Vijverberg, M.; Verhulst, J.; Nijman, J. M.; van Zon, R.; Vlasblom, M.; van Mastrigt, R.; Hjälmås, K.; Jodal, U.; Hellström, A. L.; Sölsnes, E.; Hermansson, G.; Sixt, R.

    2008-01-01

    The objective of this study was to compare prospectively, in urge syndrome and dysfunctional voiding, clinical patterns with urodynamic patterns, to assess changes in urodynamic patterns after treatment, and to correlate urodynamic patterns and parameters with treatment outcome. In the European

  5. Iliopsoas myofascial dysfunction: a treatable cause of "failed" low back syndrome.

    Science.gov (United States)

    Ingber, R S

    1989-05-01

    Most patients with low back pain experience loss of spinal and hip extension range of motion. The limitation appears to involve significant iliopsoas myofascial dysfunction manifested in tenderness, as shown by deep abdominal palpation of the psoas muscle, hip flexor contracture, pain elicited by the stretch maneuver of the spine and hip, and relative weakness of the psoas muscle when tested manually. These signs assisted in identifying the source of low back pain in six patients who had failed to respond to prior treatment. Therapy consisted of iliopsoas trigger point treatment using a dry needling technique, followed by self-administered postisometric relaxation exercise of the iliopsoas. In all cases, marked improvement of hip and spine extension, dramatic reduction of pain, and return to normal activity resulted. Given the low risk-to-benefit ratio, trigger point treatment is indicated in "failed back syndrome" and chronic low back pain after conservative therapy or surgery have been tried without success.

  6. A Case of Montelukast-Induced Churg-Strauss Syndrome Associated with Liver Dysfunction

    Directory of Open Access Journals (Sweden)

    Keiji Matsui

    2011-01-01

    Full Text Available A 64-year-old woman was admitted to hospital due to protracted diarrhea and liver dysfunction. The patient was diagnosed as Churg-Strauss syndrome (CSS due to asthma, paranasal sinusitis, hypereosinophilia, and polyneuropathy. There was a history of taking montelukast, a leukotriene receptor antagonist (LTRA, which is thought to have some relationship with CSS. The liver biopsy specimen showed eosinophilic infiltration and centrolobular fatty change. In this paper, we review the relationship between LTRA and CSS. Several lines of evidence suggest that leukotriene plays an important role in maintaining neural tissues. We also review the potential relationship between centrolobular fatty change and pivoxil-containing antibiotics, which was prescribed for sinusitis before admission. Carnitine deficiency induced by pivoxil-containing agents may cause impaired fatty acid oxidation in mitochondria.

  7. The validity of tooth grinding measures: etiology of pain dysfunction syndrome revisited.

    Science.gov (United States)

    Marbach, J J; Raphael, K G; Dohrenwend, B P; Lennon, M C

    1990-03-01

    The current study explores the proposition that a treating clinician's etiologic model influences patients' reports of tooth grinding, the validity of, and subsequent research findings relying on these measures. The investigation compares self-reports of tooth grinding and related clinical variables for 151 cases of temporomandibular pain and dysfunction syndrome (TMPDS) treated by a clinician who does not explicitly support the grinding theory of the etiology of TMPDS, and 139 healthy controls. Cases were no more likely than well controls to report ever-grinding, but were actually significantly less likely than well controls to report current grinding. They were also significantly more likely to report that a dentist had told them they ground. Findings suggest that studies using self-report, clinician-report of tooth grinding (or both) are methodologically inadequate for addressing the relationship between tooth grinding and TMPDS.

  8. Cardiovascular autonomic dysfunction in Ehlers-Danlos syndrome-Hypermobile type.

    Science.gov (United States)

    Hakim, Alan; O'Callaghan, Chris; De Wandele, Inge; Stiles, Lauren; Pocinki, Alan; Rowe, Peter

    2017-03-01

    Autonomic dysfunction contributes to health-related impairment of quality of life in the hypermobile type of Ehlers-Danlos syndrome (hEDS). Typical signs and symptoms include tachycardia, hypotension, gastrointestinal dysmotility, and disturbed bladder function and sweating regulation. Cardiovascular autonomic dysfunction may present as Orthostatic Intolerance, Orthostatic Hypotension, Postural Orthostatic Tachycardia Syndrome, or Neurally Mediated Hypotension. The incidence, prevalence, and natural history of these conditions remain unquantified, but observations from specialist clinics suggest they are frequently seen in hEDS. There is growing understanding of how hEDS-related physical and physiological pathology contributes to the development of these conditions. Evaluation of cardiovascular symptoms in hEDS should include a careful history and clinical examination. Tests of cardiovascular function range from clinic room observation to tilt-table assessment to other laboratory investigations such as supine and standing catecholamine levels. Non-pharmacologic treatments include education, managing the environment to reduce exposure to triggers, improving cardiovascular fitness, and maintaining hydration. Although there are limited clinical trials, the response to drug treatments in hEDS is supported by evidence from case and cohort observational data, and short-term physiological studies. Pharmacologic therapy is indicated for patients with moderate-severe impairment of daily function and who have inadequate response or tolerance to conservative treatment. Treatment in hEDS often requires a focus on functional maintenance. Also, the negative impact of cardiovascular symptoms on physical and psycho-social well-being may generate a need for a more general evaluation and on-going management and support. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  9. A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

    Science.gov (United States)

    Thompson Legault, Julie; Strittmatter, Laura; Tardif, Jessica; Sharma, Rohit; Tremblay-Vaillancourt, Vanessa; Aubut, Chantale; Boucher, Gabrielle; Clish, Clary B; Cyr, Denis; Daneault, Caroline; Waters, Paula J; Vachon, Luc; Morin, Charles; Laprise, Catherine; Rioux, John D; Mootha, Vamsi K; Des Rosiers, Christine

    2015-11-03

    A decline in mitochondrial respiration represents the root cause of a large number of inborn errors of metabolism. It is also associated with common age-associated diseases and the aging process. To gain insight into the systemic, biochemical consequences of respiratory chain dysfunction, we performed a case-control, prospective metabolic profiling study in a genetically homogenous cohort of patients with Leigh syndrome French Canadian variant, a mitochondrial respiratory chain disease due to loss-of-function mutations in LRPPRC. We discovered 45 plasma and urinary analytes discriminating patients from controls, including classic markers of mitochondrial metabolic dysfunction (lactate and acylcarnitines), as well as unexpected markers of cardiometabolic risk (insulin and adiponectin), amino acid catabolism linked to NADH status (α-hydroxybutyrate), and NAD(+) biosynthesis (kynurenine and 3-hydroxyanthranilic acid). Our study identifies systemic, metabolic pathway derangements that can lie downstream of primary mitochondrial lesions, with implications for understanding how the organelle contributes to rare and common diseases. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  10. Multiple organ dysfunction: a delayed envenomation syndrome caused by tentacle extract from the jellyfish Cyanea capillata.

    Science.gov (United States)

    Wang, Beilei; Zhang, Lin; Zheng, Jiemin; Wang, Qianqian; Wang, Tao; Lu, Jia; Wen, Xiaojuan; Zhang, Bo; Liu, Guoyan; Zhang, Wei; Xiao, Liang; Zhang, Liming

    2013-01-01

    The delayed jellyfish envenomation syndrome (DJES) with serious multiple organ dysfunction or systemic damages, generally developed 2 h after jellyfish stings, deserves special attention for it is very meaningful to the clinical interventions. To set up a DJES model as well as to obtain more details about its process, an integrative approach, including clinical chemistry, pathology and immunohistochemistry, was conducted to simultaneously monitor the effects of tentacle extract (TE) from the jellyfish Cyanea capillata on the vital target organs (heart, lung, liver and kidney). Our results showed that the TE from C. capillata could induce diverse toxic effects on these organs, among which the liver and kidney injuries seemed to be more serious than cardiopulmonary injuries and might be the leading causes of death in rats with DJES. In summary, we have established a DJES model with multiple organ dysfunction, which could facilitate the research on its underlying mechanism as well as the development of specific prevention or therapy strategies against jellyfish envenomation. The application of this model suggested that the possible mechanism of DJES might be attributed to the synergy of cytotoxicity, vasoconstriction effect and other specific target organ toxicities of jellyfish venom. Copyright © 2012 Elsevier Ltd. All rights reserved.

  11. Sympathetic nervous system dysfunction in fibromyalgia, chronic fatigue syndrome, irritable bowel syndrome, and interstitial cystitis: a review of case-control studies.

    Science.gov (United States)

    Martínez-Martínez, Laura-Aline; Mora, Tania; Vargas, Angélica; Fuentes-Iniestra, Mario; Martínez-Lavín, Manuel

    2014-04-01

    Fibromyalgia often coexists and overlaps with other syndromes such as chronic fatigue, irritable bowel syndrome, and interstitial cystitis. Chronic stress has been implicated in the pathogenesis of these illnesses. The sympathetic nervous system is a key element of the stress response system. Sympathetic dysfunction has been reported in these syndromes, raising the possibility that such dysautonomia could be their common clustering underlying pathogenesis. The objective of this study was to carry out a review of all published comparative case-control studies investigating sympathetic nervous system performance in fibromyalgia, chronic fatigue syndrome, irritable bowel syndrome, and interstitial cystitis. Online databases PubMed and EMBASE were accessed using the following key words: autonomic (OR) sympathetic (AND) fibromyalgia, chronic fatigue syndrome, irritable bowel syndrome, and interstitial cystitis. All entries up to December 10th 2012 were reviewed by 2 independent investigators searching for case-control studies in humans. The Method for Evaluating Research and Guidelines Evidence adapted to the Scottish Intercollegiate Guidelines Network was used to rank the level of evidence contained in the selected articles. A total of 196 articles are included in this review. The most often used methods to assess sympathetic functionality were heart rate variability analysis, sympathetic skin response, tilt table testing, and genetic studies. The majority of studies (65%) described sympathetic nervous system predominance in these overlapping syndromes. In contrast, 7% of the studies found parasympathetic predominance. This review demonstrates that sympathetic nervous system predominance is common in fibromyalgia, chronic fatigue syndrome, irritable bowel syndrome, and interstitial cystitis. This concordance raises the possibility that sympathetic dysfunction could be their common underlying pathogenesis that brings on overlapping clinical features. The recognition of

  12. Describing a new syndrome in L5-S1 disc herniation: Sexual and sphincter dysfunction without pain and muscle weakness

    Directory of Open Access Journals (Sweden)

    Nezih Akca

    2014-01-01

    Full Text Available Context: Little seems to be known about the sexual dysfunction (SD in lumbar intervertebral disc herniation. Aims: Investigation of sexual and sphincter dysfunction in patient with lumbar disc hernitions. Settings and Design: A retrospective analysis. Materials and Methods: Sexual and sphincter dysfunction in patients admitted with lumbar disc herniations between September 2012-March 2014. Statistical Analysis Used: Statistical analysis was performed using the Predictive Analytics SoftWare (PASW Statistics 18.0 for Windows (Statistical Package for the Social Sciences, SPSS Inc., Chicago, Illinois. The statistical significance was set at P < 0.05. The Wilcoxon signed ranks test was used to evaluate the difference between patients. Results: Four patients with sexual and sphincter dysfunction were found, including two women and two men, aged between 20 and 52 years. All of them admitted without low back pain. In addition, on neurological examination, reflex and motor deficit were not found. However, almost all patients had perianal sensory deficit and sexual and sphincter dysfunction. Magnetic resonance imaging (MRI of three patients displayed a large extruded disc fragment at L5-S1 level on the left side. In fourth patient, there were not prominent disc herniations. There was not statistically significant difference between pre-operative and post-operative sexual function, anal-urethral sphincter function, and perianal sensation score. A syndrome in L5-S1 disc herniation with sexual and sphincter dysfunction without pain and muscle weakness was noted. We think that it is crucial for neurosurgeons to early realise that paralysis of the sphincter and sexual dysfunction are possible in patients with lumbar L5-S1 disc disease. Conclusion: A syndrome with perianal sensory deficit, paralysis of the sphincter, and sexual dysfunction may occur in patients with lumbar L5-S1 disc disease. The improvement of perianal sensory deficit after surgery was

  13. Does microglial dysfunction play a role in autism and Rett syndrome?

    Science.gov (United States)

    Maezawa, Izumi; Calafiore, Marco; Wulff, Heike; Jin, Lee-Way

    2011-02-01

    Autism spectrum disorders (ASDs) including classic autism is a group of complex developmental disabilities with core deficits of impaired social interactions, communication difficulties and repetitive behaviors. Although the neurobiology of ASDs has attracted much attention in the last two decades, the role of microglia has been ignored. Existing data are focused on their recognized role in neuroinflammation, which only covers a small part of the pathological repertoire of microglia. This review highlights recent findings on the broader roles of microglia, including their active surveillance of brain microenvironments and regulation of synaptic connectivity, maturation of brain circuitry and neurogenesis. Emerging evidence suggests that microglia respond to pre- and postnatal environmental stimuli through epigenetic interface to change gene expression, thus acting as effectors of experience-dependent synaptic plasticity. Impairments of these microglial functions could substantially contribute to several major etiological factors of autism, such as environmental toxins and cortical underconnectivity. Our recent study on Rett syndrome, a syndromic autistic disorder, provides an example that intrinsic microglial dysfunction due to genetic and epigenetic aberrations could detrimentally affect the developmental trajectory without evoking neuroinflammation. We propose that ASDs provide excellent opportunities to study the influence of microglia on neurodevelopment, and this knowledge could lead to novel therapies.

  14. Does microglial dysfunction play a role in autism and Rett syndrome?

    Science.gov (United States)

    MAEZAWA, IZUMI; CALAFIORE, MARCO; WULFF, HEIKE; JIN, LEE-WAY

    2016-01-01

    Autism spectrum disorders (ASDs) including classic autism is a group of complex developmental disabilities with core deficits of impaired social interactions, communication difficulties and repetitive behaviors. Although the neurobiology of ASDs has attracted much attention in the last two decades, the role of microglia has been ignored. Existing data are focused on their recognized role in neuroinflammation, which only covers a small part of the pathological repertoire of microglia. This review highlights recent findings on the broader roles of microglia, including their active surveillance of brain microenvironments and regulation of synaptic connectivity, maturation of brain circuitry and neurogenesis. Emerging evidence suggests that microglia respond to pre- and postnatal environmental stimuli through epigenetic interface to change gene expression, thus acting as effectors of experience-dependent synaptic plasticity. Impairments of these microglial functions could substantially contribute to several major etiological factors of autism, such as environmental toxins and cortical underconnectivity. Our recent study on Rett syndrome, a syndromic autistic disorder, provides an example that intrinsic microglial dysfunction due to genetic and epigenetic aberrations could detrimentally affect the developmental trajectory without evoking neuroinflammation. We propose that ASDs provide excellent opportunities to study the influence of microglia on neurodevelopment, and this knowledge could lead to novel therapies. PMID:22717189

  15. Intravesical TRPV4 blockade reduces repeated variate stress-induced bladder dysfunction by increasing bladder capacity and decreasing voiding frequency in male rats

    Science.gov (United States)

    Merrill, Liana

    2014-01-01

    Individuals with functional lower urinary tract disorders including interstitial cystitis (IC)/bladder pain syndrome (BPS) and overactive bladder (OAB) often report symptom (e.g., urinary frequency) worsening due to stress. One member of the transient receptor potential ion channel vanilloid family, TRPV4, has recently been implicated in urinary bladder dysfunction disorders including OAB and IC/BPS. These studies address the role of TRPV4 in stress-induced bladder dysfunction using an animal model of stress in male rats. To induce stress, rats were exposed to 7 days of repeated variate stress (RVS). Quantitative PCR data demonstrated significant (P ≤ 0.01) increases in TRPV4 transcript levels in urothelium but not detrusor smooth muscle. Western blot analyses of split urinary bladders (i.e., urothelium and detrusor) showed significant (P ≤ 0.01) increases in TRPV4 protein expression levels in urothelial tissues but not detrusor smooth muscle. We previously showed that RVS produces bladder dysfunction characterized by decreased bladder capacity and increased voiding frequency. The functional role of TRPV4 in RVS-induced bladder dysfunction was evaluated using continuous, open outlet intravesical infusion of saline in conjunction with administration of a TRPV4 agonist, GSK1016790A (3 μM), a TRPV4 antagonist, HC067047 (1 μM), or vehicle (0.1% DMSO in saline) in control and RVS-treated rats. Bladder capacity, void volume, and intercontraction interval significantly decreased following intravesical instillation of GSK1016790A in control rats and significantly (P ≤ 0.01) increased following administration of HC067047 in RVS-treated rats. These results demonstrate increased TRPV4 expression in the urothelium following RVS and that TRPV4 blockade ameliorates RVS-induced bladder dysfunction consistent with the role of TRPV4 as a promising target for bladder function disorders. PMID:24965792

  16. Microneedle fractional radiofrequency increases epidermal hyaluronan and reverses age-related epidermal dysfunction.

    Science.gov (United States)

    Lee, Hee Jung; Seo, Seong Rak; Yoon, Moon Soo; Song, Ji-Ye; Lee, Eun Young; Lee, Sang Eun

    2016-02-01

    Skin aging results in physiological alterations in keratinocyte activities and epidermal function, as well as dermal changes. Yet, the cellular and molecular mechanisms that cause epidermal dysfunction during skin aging are not well understood. Recently, the role of epidermal hyaluronan (HA) as an active regulator of dynamic cellular processes is getting attention and alterations in HA metabolism are thought to be important in age-related epidermal dysfunction. Microneedle fractional radiofrequency (RF) has shown effects for improving cutaneous aging. However, little is known about the effects of fractional RF on the epidermal HA and epidermal function. We investigated the effect of microneedle fractional RF on the expression of epidermal HA in young and aged mice epidermis. We performed fractional RF on the dorsal skin of 30 8-week-old (young) hairless mice and 15 47-week-old (aged) C57BL/6J mice. Skin samples were collected on day 1, 3, and 7. HA content was measured by ELISA. Gene expressions of CD 44, HABP4, and HAS3 were measured using real time RT-PCR. Immunohistochemistry for detection of HA, CD44, PCNA, and filaggrin were performed. HA content and the mRNA levels of HABP4, CD44, and HAS3 were upregulated in the epidermis of both young and aged mice after microneedle fractional RF treatment. The expression was increased from day 1 after treatment and increased expression persisted on day 7. Fractional RF treatment significantly increased PCNA and filaggrin expression only in the aged mice skin. Microneedle fractional RF increased epidermal HA and CD44 expression in both young and aged mice and reversed age-related epidermal dysfunction especially in aged mice, suggesting a new mechanism involved in the skin rejuvenation effect of microneedle fractional RF. © 2015 Wiley Periodicals, Inc.

  17. Exercise training prevents diastolic dysfunction induced by metabolic syndrome in rats

    Directory of Open Access Journals (Sweden)

    Cristiano Mostarda

    2012-07-01

    Full Text Available OBJECTIVE: High fructose consumption contributes to the incidence of metabolic syndrome and, consequently, to cardiovascular outcomes. We investigated whether exercise training prevents high fructose diet-induced metabolic and cardiac morphofunctional alterations. METHODS: Wistar rats receiving fructose overload (F in drinking water (100 g/l were concomitantly trained on a treadmill (FT for 10 weeks or kept sedentary. These rats were compared with a control group (C. Obesity was evaluated by the Lee index, and glycemia and insulin tolerance tests constituted the metabolic evaluation. Blood pressure was measured directly (Windaq, 2 kHz, and echocardiography was performed to determine left ventricular morphology and function. Statistical significance was determined by one-way ANOVA, with significance set at p<0.05. RESULTS: Fructose overload induced a metabolic syndrome state, as confirmed by insulin resistance (F: 3.6 ± 0.2 vs. C: 4.5 ± 0.2 mg/dl/min, hypertension (mean blood pressure, F: 118 ± 3 vs. C: 104 ± 4 mmHg and obesity (F: 0.31±0.001 vs. C: 0.29 ± 0.001 g/mm. Interestingly, fructose overload rats also exhibited diastolic dysfunction. Exercise training performed during the period of high fructose intake eliminated all of these derangements. The improvements in metabolic parameters were correlated with the maintenance of diastolic function. CONCLUSION: The role of exercise training in the prevention of metabolic and hemodynamic parameter alterations is of great importance in decreasing the cardiac morbidity and mortality related to metabolic syndrome.

  18. Cognitive dysfunction and poor health literacy are common in veterans presenting with acute coronary syndrome: insights from the MEDICATION study

    Directory of Open Access Journals (Sweden)

    Marzec LN

    2015-06-01

    Full Text Available Lucas N Marzec,1 Evan P Carey,1 Anne C Lambert-Kerzner,1 Eric J Del Giacco,2 Stephanie D Melnyk,3 Chris L Bryson,4 Ibrahim E Fahdi,2 Hayden B Bosworth,3 Fran Fiocchi,5 P Michael Ho11Division of Cardiology, Denver VA Medical Center, Denver, CO, USA; 2Department of Medicine, Little Rock VA Medical Center, Little Rock, AR, USA; 3Department of Medicine, Durham VA Medical Center, Durham, NC, USA; 4Department of Medicine, Puget Sound VA Medical Center, Seattle, WA, USA; 5American College of Cardiology, Washington, DC, USABackground: Patient nonadherence to cardiac medications following acute coronary syndrome (ACS is associated with increased risk of recurrent events. However, the prevalence of cognitive dysfunction and poor health literacy among ACS patients and their association with medication nonadherence are poorly understood.Methods: We assessed rates of cognitive dysfunction and poor health literacy among participants of a clinical trial that tested the effectiveness of an intervention to improve medication adherence in patients hospitalized with ACS. Of 254 patients, 249 completed the Rapid Estimate of Adult Literacy in Medicine, Revised (REALM-R survey, an assessment of risk for poor literacy, and the St Louis University Mental Status (SLUMS exam, a tool assessing for neurocognitive deficits, during ACS hospitalization. We assessed if SLUMS or REALM-R scores were associated with medication adherence.Results: Based on SLUMS score, 14% of patients were categorized as having dementia, and 52% with mild neurocognitive disorder (MNCD. Based on REALM-R score of ≤6, 34% of patients were categorized as at risk for poor health literacy. There was no association between poor health literacy and medication nonadherence. Of those with MNCD, 35.5% were nonadherent, compared to 17.5% with normal cognitive function and 6.7% with dementia. In multivariable analysis, cognitive dysfunction was associated with medication nonadherence (P=0.007, mainly due to

  19. Long-term dietary nitrite and nitrate deficiency causes the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice.

    Science.gov (United States)

    Kina-Tanada, Mika; Sakanashi, Mayuko; Tanimoto, Akihide; Kaname, Tadashi; Matsuzaki, Toshihiro; Noguchi, Katsuhiko; Uchida, Taro; Nakasone, Junko; Kozuka, Chisayo; Ishida, Masayoshi; Kubota, Haruaki; Taira, Yuji; Totsuka, Yuichi; Kina, Shin-Ichiro; Sunakawa, Hajime; Omura, Junichi; Satoh, Kimio; Shimokawa, Hiroaki; Yanagihara, Nobuyuki; Maeda, Shiro; Ohya, Yusuke; Matsushita, Masayuki; Masuzaki, Hiroaki; Arasaki, Akira; Tsutsui, Masato

    2017-06-01

    Nitric oxide (NO) is synthesised not only from L-arginine by NO synthases (NOSs), but also from its inert metabolites, nitrite and nitrate. Green leafy vegetables are abundant in nitrate, but whether or not a deficiency in dietary nitrite/nitrate spontaneously causes disease remains to be clarified. In this study, we tested our hypothesis that long-term dietary nitrite/nitrate deficiency would induce the metabolic syndrome in mice. To this end, we prepared a low-nitrite/nitrate diet (LND) consisting of an amino acid-based low-nitrite/nitrate chow, in which the contents of L-arginine, fat, carbohydrates, protein and energy were identical with a regular chow, and potable ultrapure water. Nitrite and nitrate were undetectable in both the chow and the water. Three months of the LND did not affect food or water intake in wild-type C57BL/6J mice compared with a regular diet (RD). However, in comparison with the RD, 3 months of the LND significantly elicited visceral adiposity, dyslipidaemia and glucose intolerance. Eighteen months of the LND significantly provoked increased body weight, hypertension, insulin resistance and impaired endothelium-dependent relaxations to acetylcholine, while 22 months of the LND significantly led to death mainly due to cardiovascular disease, including acute myocardial infarction. These abnormalities were reversed by simultaneous treatment with sodium nitrate, and were significantly associated with endothelial NOS downregulation, adiponectin insufficiency and dysbiosis of the gut microbiota. These results provide the first evidence that long-term dietary nitrite/nitrate deficiency gives rise to the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice, indicating a novel pathogenetic role of the exogenous NO production system in the metabolic syndrome and its vascular complications.

  20. De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

    Science.gov (United States)

    Ehmke, Nadja; Graul-Neumann, Luitgard; Smorag, Lukasz; Koenig, Rainer; Segebrecht, Lara; Magoulas, Pilar; Scaglia, Fernando; Kilic, Esra; Hennig, Anna F; Adolphs, Nicolai; Saha, Namrata; Fauler, Beatrix; Kalscheuer, Vera M; Hennig, Friederike; Altmüller, Janine; Netzer, Christian; Thiele, Holger; Nürnberg, Peter; Yigit, Gökhan; Jäger, Marten; Hecht, Jochen; Krüger, Ulrike; Mielke, Thorsten; Krawitz, Peter M; Horn, Denise; Schuelke, Markus; Mundlos, Stefan; Bacino, Carlos A; Bonnen, Penelope E; Wollnik, Bernd; Fischer-Zirnsak, Björn; Kornak, Uwe

    2017-11-02

    Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. Two of the girls had pronounced neonatal progeroid features and were initially diagnosed with Wiedemann-Rautenstrauch syndrome. SLC25A24 encodes a mitochondrial inner membrane ATP-Mg/P i carrier. In fibroblasts from affected individuals, the mutated SLC25A24 showed normal stability. In contrast to control cells, the probands' cells showed mitochondrial swelling, which was exacerbated upon treatment with hydrogen peroxide (H 2 O 2 ). The same effect was observed after overexpression of the mutant cDNA. Under normal culture conditions, the mitochondrial membrane potential of the probands' fibroblasts was intact, whereas ATP content in the mitochondrial matrix was lower than that in control cells. However, upon H 2 O 2 exposure, the membrane potential was significantly elevated in cells harboring the mutated SLC25A24. No reduction of mitochondrial DNA copy number was observed. These findings demonstrate that mitochondrial dysfunction with increased sensitivity to oxidative stress is due to the SLC25A24 mutations. Our results suggest that the SLC25A24 mutations induce a gain of pathological function and link mitochondrial ATP-Mg/P i transport to the development of skeletal and connective tissue. Copyright © 2017 American Society of Human Genetics. All rights reserved.

  1. 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.

  2. Childhood bladder and bowel dysfunction predicts irritable bowel syndrome phenotype in adult interstitial cystitis/bladder pain syndrome patients.

    Science.gov (United States)

    Doiron, R Christopher; Kogan, Barry A; Tolls, Victoria; Irvine-Bird, Karen; Nickel, J Curtis

    2017-08-01

    Many clinicians have suggested that a history of bladder and bowel dysfunction (BBD) in childhood predisposes to the development of interstitial cystitis/bladder pain syndrome (IC/BPS) or irritable bowel syndrome (IBS) in adulthood. We hypothesized that BBD symptoms in childhood would predict the IBS-associated phenotype in adult IC/BPS patients. Consecutive female patients (n=190) with a diagnosis of IC/BPS were administered a modified form of a clinical BBD questionnaire (BBDQ) to capture childhood BBD-like symptoms, as well as Interstitial Cystitis Symptoms Index (ICSI), Interstitial Cystitis Problem Index (ICPI), Pelvic Pain and Urgency/Frequency (PUF) questionnaires and UPOINT categorization. Patients were stratified to IBS-positive or IBS-negative according to clinical assessment of IBS-like symptoms. The 127 patients (67%) identified with IBS-like symptoms recalled significantly higher BBDQ scores than the 63 patients (33%) who were IBS-negative (2.8 vs. 2.3; p=0.05). The IBS-positive patients also reported a higher number of UPOINT domains than their non-IBS counterparts (3.8 vs. 2.9; p=0.0001), while their PUF total scores were significantly higher (13.6 vs. 12.3; p=0.04). IBS-positive patients more often recalled that in childhood they did not have a daily bowel movement (BM) (p=0.04) and had "to push for a BM" (p=0.009). In childhood, they "urinated only once or twice per day" (p=0.03) and recalled "painful urination" more than those without IBS (p=0.03). There were no significant differences between the groups in answers to the other five questions of the BBDQ. Our symptom recollection survey was able to predict the IBS phenotype of IC/BPS based on a childhood BBDQ. Further prospective studies are needed to further evaluate these novel findings.

  3. Proinflammatory Cytokines Are Soluble Mediators Linked with Ventricular Arrhythmias and Contractile Dysfunction in a Rat Model of Metabolic Syndrome

    Science.gov (United States)

    Fernández-Sada, Evaristo; Silva-Platas, Christian; García, Noemí; Rodríguez-Rodríguez, César; De la Peña, Erasmo; Bernal-Ramírez, Judith

    2017-01-01

    Metabolic syndrome (MS) increases cardiovascular risk and is associated with cardiac dysfunction and arrhythmias, although the precise mechanisms are still under study. Chronic inflammation in MS has emerged as a possible cause of adverse cardiac events. Male Wistar rats fed with 30% sucrose in drinking water and standard chow for 25–27 weeks were compared to a control group. The MS group showed increased weight, visceral fat, blood pressure, and serum triglycerides. The most important increases in serum cytokines included IL-1β (7-fold), TNF-α (84%), IL-6 (41%), and leptin (2-fold), the latter also showing increased gene expression in heart tissue (35-fold). Heart function ex vivo in MS group showed a decreased mechanical performance response to isoproterenol challenge (ISO). Importantly, MS hearts under ISO showed nearly twofold the incidence of ventricular fibrillation. Healthy rat cardiomyocytes exposed to MS group serum displayed impaired contractile function and Ca2+ handling during ISO treatment, showing slightly decreased cell shortening and Ca2+ transient amplitude (23%), slower cytosolic calcium removal (17%), and more frequent spontaneous Ca2+ release events (7.5-fold). As spontaneous Ca2+ releases provide a substrate for ventricular arrhythmias, our study highlights the possible role of serum proinflammatory mediators in the development of arrhythmic events during MS. PMID:29201273

  4. Increased permeability-oedema and atelectasis in pulmonary dysfunction after trauma and surgery: a prospective cohort study

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    Groeneveld AB Johan

    2007-07-01

    Full Text Available Abstract Background Trauma and surgery may be complicated by pulmonary dysfunction, acute lung injury (ALI and acute respiratory distress syndrome (ARDS, but the mechanisms are incompletely understood. Methods We evaluated lung capillary protein permeability non-invasively with help of the 67Ga-transferrin pulmonary leak index (PLI technique and extravascular lung water (EVLW by the transpulmonary thermal-dye dilution technique in consecutive, mechanically ventilated patients in the intensive care unit within 24 h of direct, blunt thoracic trauma (n = 5, 2 with ARDS, and within 12 h of indirect trauma by transhiatal oesophagectomy (n = 8, abdominal surgery for cancer (n = 6 and bone surgery (n = 4. We studied transfusion history, haemodynamics, oxygenation and mechanics of the lungs. The lung injury score (LIS, 0–4 was calculated. Plain radiography was also done to judge densities and atelectasis. Results The PLI and EVLW were elevated above normal in 61 and 30% of patients, respectively, and the PLI directly related to the number of red cell concentrates given (rs = 0.69, P s = 0.55, P = 0.007. Thoracic trauma patients had a worse oxygenation requiring higher airway pressures and thus higher LIS than the other patient groups, unrelated to PLI and EVLW but attributable to a higher cardiac output and thereby venous admixture. Finally, patients with radiographic signs of atelectasis had more impaired oxygenation and more densities than those without. Conclusion The oxygenation defect and radiographic densities in mechanically ventilated patients with pulmonary dysfunction and ALI/ARDS after trauma and surgery are likely caused by atelectasis rather than by increased permeability-oedema related to red cell transfusion.

  5. [Ulysses network: an approach to integral post-ICU treatment of patients with multiple organ dysfunction syndrome].

    Science.gov (United States)

    Nolla-Salas, M; Monmany-Roca, J; Vázquez-Mata, G

    2007-01-01

    The concept of continuity of care by intensivists as an element of quality control in the medical care of Intensive Care Unit (ICU) patients surviving multiple organ dysfunction syndrome has led to a rethinking of the ICU model in recent years. We discuss the rationale to design and implement a hospital-based, prospective, randomized, multicenter Intervention/Control study in order to estimate the impact of an interdisciplinary intervention during the post-ICU recovery phase on medium-term medical outcomes in ICU patients with multiple organ dysfunction.

  6. Dysfunctions of mitochondria in close association with strong perturbation of long noncoding RNAs expression in down syndrome.

    Science.gov (United States)

    Qiu, Jia-Jun; Liu, Yan-Na; Ren, Zhao-Rui; Yan, Jing-Bin

    2017-11-01

    Trisomy 21 is the most common chromosomal disorder and underlies Down syndrome. Epigenetics, such as DNA methylation and post-translational histone modifications, plays a vital role in Down syndrome. However, the functions of epigenetics-related long noncoding RNAs (lncRNAs), found to have an impact on neural diseases such as Alzheimer's disease, remain unknown in Down syndrome. In this study, we analyzed the RNA sequencing data from Down syndrome-induced pluripotent stem cells (iPSCs) and normal iPSCs. A large number of lncRNAs were identified differentially expressed in Down syndrome-iPSCs. Notably, stronger perturbation was shown in the expression of lncRNAs compared to protein coding genes (Kolmogorov-Smirnov test, PDown syndrome. Through gene set enrichment analysis and bi-clustering, we also found that most of the differential expressed lncRNAs were closely associated with mitochondrial functions (e.g. mitochondrion organization, P=3.21×10 -17 ; mitochondrial ATP synthesis coupled electron transport, P=1.73×10 -19 and mitochondrial membrane organization, P=4.04×10 -8 ). PCR-array and qRT-PCR results revealed that almost all genes related to mitochondria were down-regulated in Down syndrome-iPSCs, implying that mitochondria were dysfunctional in Down syndrome (e.g. ATP5B, Fold Change=-8.2317; COX6A1, Fold Change=-12.7788 and SLC25A17, Fold Change=-22.1296). All in all, our study indicated that a stronger perturbation of lncRNAs expression may lead to the dysfunction of mitochondria in Down syndrome. Copyright © 2017. Published by Elsevier Ltd.

  7. Protective effect of eugenol against restraint stress-induced gastrointestinal dysfunction: Potential use in irritable bowel syndrome.

    Science.gov (United States)

    Garabadu, Debapriya; Shah, Ankit; Singh, Sanjay; Krishnamurthy, Sairam

    2015-07-01

    Eugenol, an essential constituent found in plants such as Eugenia caryophyllata Thunb. (Myrtaceae) is reported to possess neuroprotective and anti-stress activities. These activities can potentially be useful in the treatment of stress-induced irritable bowel syndrome (IBS). The protective effect of eugenol was assessed against restraint stress (RS)-induced IBS-like gastrointestinal dysfunction in rats. Further, its centrally mediated effect was evaluated in this model. Eugenol (12.5, 25, and 50 mg/kg), ondansetron (4.0 mg/kg, p.o.), and vehicle were administered to rats for 7 consecutive days before exposure to 1 h RS. One control group was not exposed to RS-induction. The effect of eugenol (50 mg/kg) with and without RS exposure was evaluated for mechanism of action and per se effect, respectively. The hypothalamic-pituitary-adrenal cortex (HPA)-axis function was evaluated by estimating the plasma corticosterone level. The levels of brain monoamines, namely serotonin, norepinephrine, dopamine, and their metabolites were estimated in stress-responsive regions such as hippocampus, hypothalamus, pre-frontal cortex (PFC), and amygdala. Oxidative damage and antioxidant defenses were also assessed in brain regions. Eugenol (50 mg/kg) reduced 80% of RS-induced increase in fecal pellets similar to that of ondansetron. Eugenol attenuated 80% of stress-induced increase in plasma corticosterone and modulated the serotonergic system in the PFC and amygdala. Eugenol attenuated stress-induced changes in norepinephrine and potentiated the antioxidant defense system in all brain regions. Eugenol protected against RS-induced development of IBS-like gastrointestinal dysfunction through modulation of HPA-axis and brain monoaminergic pathways apart from its antioxidant effect.

  8. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    Directory of Open Access Journals (Sweden)

    Intae Choi

    2017-08-01

    Full Text Available The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea’s metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  9. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    Science.gov (United States)

    Choi, Intae

    2017-01-01

    The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  10. Burden of Sexual Dysfunction.

    Science.gov (United States)

    Balon, Richard

    2017-01-02

    Similar to the burden of other diseases, the burden of sexual dysfunction has not been systematically studied. However, there is growing evidence of various burdens (e.g., economic, symptomatic, humanistic) among patients suffering from sexual dysfunctions. The burden of sexual dysfunction has been studied a bit more often in men, namely the burden of erectile dysfunction (ED), premature ejaculation (PE) and testosterone deficiency syndrome (TDS). Erectile dysfunction is frequently associated with chronic conditions such as cardiovascular disease, diabetes, and depression. These conditions could go undiagnosed, and ED could be a marker of those diseases. The only available report from the United Kingdom estimated the total economic burden of ED at £53 million annually in terms of direct costs and lost productivity. The burden of PE includes significant psychological distress: anxiety, depression, lack of sexual confidence, poor self-esteem, impaired quality of life, and interpersonal difficulties. Some suggest that increase in female sexual dysfunction is associated with partner's PE, in addition to significant interpersonal difficulties. The burden of TDS includes depression, sexual dysfunction, mild cognitive impairment, and osteoporosis. One UK estimate of the economic burden of female sexual dysfunctions demonstrated that the average cost per patient was higher than the per annum cost of ED. There are no data on burden of paraphilic disorders. The burden of sexual dysfunctions is underappreciated and not well studied, yet it is significant for both the patients and the society.

  11. Comparative Value of Simple Inflammatory Markers in the Prediction of Left Ventricular Systolic Dysfunction in Postacute Coronary Syndrome Patients

    Directory of Open Access Journals (Sweden)

    Panagiotis Aggelopoulos

    2009-01-01

    Full Text Available Objectives. We sought to assess the comparative value of inflammatory markers on the occurrence of left ventricular systolic dysfunction (LVSD after an acute coronary syndrome (ACS. Methods. During 2006–2008, 760 patients with an ACS were enrolled. C-reactive protein (CRP and white blood cell (WBC count were measured during the first 12 hours of hospital admission. Results. CRP levels and WBC count were significantly higher in those who developed LVSD compared to those who did not. The analysis revealed that a 10 mg/dL increase of CRP levels and a 1000/L increase in WBC are associated with a 6% and a 7% increase in the likelihood of developing LVSD, respectively. Furthermore, WBC count at entry and CRP have almost the same predictive value for development of LVSD after an ACS (2=0.109 versus 2=0.093. Conclusions. Serum CRP levels and WBC count at entry are almost equally powerful independent predictors of LVSD, after an ACS.

  12. Suppression of Cpn10 increases mitochondrial fission and dysfunction in neuroblastoma cells.

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    So Jung Park

    Full Text Available To date, several regulatory proteins involved in mitochondrial dynamics have been identified. However, the precise mechanism coordinating these complex processes remains unclear. Mitochondrial chaperones regulate mitochondrial function and structure. Chaperonin 10 (Cpn10 interacts with heat shock protein 60 (HSP60 and functions as a co-chaperone. In this study, we found that down-regulation of Cpn10 highly promoted mitochondrial fragmentation in SK-N-MC and SH-SY5Y neuroblastoma cells. Both genetic and chemical inhibition of Drp1 suppressed the mitochondrial fragmentation induced by Cpn10 reduction. Reactive oxygen species (ROS generation in 3-NP-treated cells was markedly enhanced by Cpn10 knock down. Depletion of Cpn10 synergistically increased cell death in response to 3-NP treatment. Furthermore, inhibition of Drp1 recovered Cpn10-mediated mitochondrial dysfunction in 3-NP-treated cells. Moreover, an ROS scavenger suppressed cell death mediated by Cpn10 knockdown in 3-NP-treated cells. Taken together, these results showed that down-regulation of Cpn10 increased mitochondrial fragmentation and potentiated 3-NP-mediated mitochondrial dysfunction in neuroblastoma cells.

  13. HIV-infected persons with type 2 diabetes show evidence of endothelial dysfunction and increased inflammation.

    Science.gov (United States)

    Hove-Skovsgaard, Malene; Gaardbo, Julie Christine; Kolte, Lilian; Winding, Kamilla; Seljeflot, Ingebjørg; Svardal, Asbjørn; Berge, Rolf Kristian; Gerstoft, Jan; Ullum, Henrik; Trøseid, Marius; Nielsen, Susanne Dam

    2017-03-29

    Increased incidence of cardiovascular diseases (CVD) in both HIV infection and type 2 diabetes (T2D) compared to the general population has been described. Little is known about the combined effect of HIV infection and T2D on inflammation and endothelial function, both of which may contribute to elevated risk of CVD. Cross-sectional study including 50 HIV-infected persons on combination anti-retroviral therapy (cART), with HIV RNA inflammation (cut-off 3 mg/L). The marker of endothelial dysfunction asymmetric dimethylarginine (ADMA) was measured using high performance liquid chromatography. Trimethylamine-N-oxide (TMAO), a microbiota-dependent, pro-atherogenic marker was measured using stable isotope dilution LC/MS/MS. The percentage of HIV + T2D+, HIV + T2D-, HIV-T2D+, and HIV-T2D- with hsCRP above cut-off was 50%, 19%, 47%, and 11%, respectively. HIV + T2D+ had elevated ADMA (0.67 μM (0.63-0.72) compared to HIV + T2D- (0.60 μM (0.57-0.64) p = 0.017), HIV-T2D+ (0.57 μM (0.51-63) p = 0.008), and HIV-T2D- (0.55 μM (0.52-0.58) p inflammation and evidence of endothelial dysfunction was found in HIV-infected persons with T2D. The effect on inflammation was mainly driven by T2D, while both HIV infection and T2D may contribute to endothelial dysfunction. Whether gut microbiota is a contributing factor to this remains to be determined.

  14. MLN64 induces mitochondrial dysfunction associated with increased mitochondrial cholesterol content

    Directory of Open Access Journals (Sweden)

    Elisa Balboa

    2017-08-01

    Full Text Available MLN64 is a late endosomal cholesterol-binding membrane protein that has been implicated in cholesterol transport from endosomal membranes to the plasma membrane and/or mitochondria, in toxin-induced resistance, and in mitochondrial dysfunction. Down-regulation of MLN64 in Niemann-Pick C1 deficient cells decreased mitochondrial cholesterol content, suggesting that MLN64 functions independently of NPC1. However, the role of MLN64 in the maintenance of endosomal cholesterol flow and intracellular cholesterol homeostasis remains unclear. We have previously described that hepatic MLN64 overexpression increases liver cholesterol content and induces liver damage. Here, we studied the function of MLN64 in normal and NPC1-deficient cells and we evaluated whether MLN64 overexpressing cells exhibit alterations in mitochondrial function. We used recombinant-adenovirus-mediated MLN64 gene transfer to overexpress MLN64 in mouse liver and hepatic cells; and RNA interference to down-regulate MLN64 in NPC1-deficient cells. In MLN64-overexpressing cells, we found increased mitochondrial cholesterol content and decreased glutathione (GSH levels and ATPase activity. Furthermore, we found decreased mitochondrial membrane potential and mitochondrial fragmentation and increased mitochondrial superoxide levels in MLN64-overexpressing cells and in NPC1-deficient cells. Consequently, MLN64 expression was increased in NPC1-deficient cells and reduction of its expression restore mitochondrial membrane potential and mitochondrial superoxide levels. Our findings suggest that MLN64 overexpression induces an increase in mitochondrial cholesterol content and consequently a decrease in mitochondrial GSH content leading to mitochondrial dysfunction. In addition, we demonstrate that MLN64 expression is increased in NPC cells and plays a key role in cholesterol transport into the mitochondria.

  15. MLN64 induces mitochondrial dysfunction associated with increased mitochondrial cholesterol content.

    Science.gov (United States)

    Balboa, Elisa; Castro, Juan; Pinochet, María-José; Cancino, Gonzalo I; Matías, Nuria; Sáez, P J; Martínez, Alexis; Álvarez, Alejandra R; Garcia-Ruiz, Carmen; Fernandez-Checa, José C; Zanlungo, Silvana

    2017-08-01

    MLN64 is a late endosomal cholesterol-binding membrane protein that has been implicated in cholesterol transport from endosomal membranes to the plasma membrane and/or mitochondria, in toxin-induced resistance, and in mitochondrial dysfunction. Down-regulation of MLN64 in Niemann-Pick C1 deficient cells decreased mitochondrial cholesterol content, suggesting that MLN64 functions independently of NPC1. However, the role of MLN64 in the maintenance of endosomal cholesterol flow and intracellular cholesterol homeostasis remains unclear. We have previously described that hepatic MLN64 overexpression increases liver cholesterol content and induces liver damage. Here, we studied the function of MLN64 in normal and NPC1-deficient cells and we evaluated whether MLN64 overexpressing cells exhibit alterations in mitochondrial function. We used recombinant-adenovirus-mediated MLN64 gene transfer to overexpress MLN64 in mouse liver and hepatic cells; and RNA interference to down-regulate MLN64 in NPC1-deficient cells. In MLN64-overexpressing cells, we found increased mitochondrial cholesterol content and decreased glutathione (GSH) levels and ATPase activity. Furthermore, we found decreased mitochondrial membrane potential and mitochondrial fragmentation and increased mitochondrial superoxide levels in MLN64-overexpressing cells and in NPC1-deficient cells. Consequently, MLN64 expression was increased in NPC1-deficient cells and reduction of its expression restore mitochondrial membrane potential and mitochondrial superoxide levels. Our findings suggest that MLN64 overexpression induces an increase in mitochondrial cholesterol content and consequently a decrease in mitochondrial GSH content leading to mitochondrial dysfunction. In addition, we demonstrate that MLN64 expression is increased in NPC cells and plays a key role in cholesterol transport into the mitochondria. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  16. Pulmonary Vascular Dysfunction and Cor Pulmonale During Acute Respiratory Distress Syndrome in Sicklers.

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    Cecchini, Jérôme; Boissier, Florence; Gibelin, Aude; de Prost, Nicolas; Razazi, Keyvan; Carteaux, Guillaume; Galacteros, Frederic; Maitre, Bernard; Brun-Buisson, Christian; Mekontso Dessap, Armand

    2016-10-01

    Acute chest syndrome (ACS) is the most common cause of death among sickle cell disease (SCD) adult patients. Pulmonary vascular dysfunction (PVD) and acute cor pulmonale (ACP) are common during acute respiratory distress syndrome (ARDS) and their prevalence may be even more important during ARDS related to ACS (ACS-ARDS). The objective of this study was to evaluate the prevalence and prognosis of PVD and ACP during ACS-ARDS. This was a retrospective analysis over a 10-year period of patients with moderate-to-severe ARDS. PVD and ACP were assessed by echocardiography. ARDS episodes were assigned to ACS-ARDS or nonACS-ARDS group according to whether the clinical insult was ACS or not, respectively. To evaluate independent factors associated with ACP, significant univariable risk factors were examined using logistic regression and propensity score analyses. A total of 362 patients were analyzed, including 24 ACS-ARDS. PVD and ACP were identified, respectively, in 24 (100%) and 20 (83%) ACS-ARDS patients, as compared with 204 (60%) and 68 (20%) nonACS-ARDS patients (P < 0.0001). The mortality did not differ between ACS-ARDS and nonACS-ARDS patients. Both the crude (odds ratio [OR], 19.9; 95% confidence interval [CI], 6.6-60; P < 0.0001), multivariable adjustment (OR, 27.4; 95% CI, 8.2-91.5; P < 0.001), and propensity-matched (OR, 11.7; 95% CI, 1.2-110.8; P = 0.03) analyses found a significant association between ACS-ARDS and ACP. All SCD patients presenting with moderate-to-severe ARDS as a consequence of ACS experienced PVD and more than 80% of them exhibited ACP. These results suggest a predominant role for PVD in the pathogenesis of severe forms of ACS.

  17. Increased Angiotensin II Sensitivity Contributes to Microvascular Dysfunction in Women Who Have Had Preeclampsia.

    Science.gov (United States)

    Stanhewicz, Anna E; Jandu, Sandeep; Santhanam, Lakshmi; Alexander, Lacy M

    2017-08-01

    Women who have had preeclampsia have increased cardiovascular disease risk; however, the mechanism(s) responsible for this association remain unclear. Microvascular damage sustained during a preeclamptic pregnancy may persist postpartum. The putative mechanisms mediating this dysfunction include a reduction in NO-dependent dilation and an increased sensitivity to angiotensin II. In this study, we evaluated endothelium-dependent dilation, angiotensin II sensitivity, and the therapeutic effect of angiotensin II receptor blockade (losartan) on endothelium-dependent dilation in vivo in the microvasculature of women with a history of preeclampsia (n=12) and control women who had a healthy pregnancy (n=12). We hypothesized that preeclampsia would have (1) reduced endothelium-dependent dilation, (2) reduced NO-mediated dilation, and (3) increased sensitivity to angiotensin II. We further hypothesized that localized losartan would increase endothelium-dependent vasodilation in preeclampsia. We assessed microvascular endothelium-dependent vasodilator function by measurement of cutaneous vascular conductance responses to graded infusion of acetylcholine (acetylcholine; 10 -7 -102 mmol/L) and a standardized local heating protocol in control sites and sites treated with 15 mmol/L L-NAME ( N G -nitro-l-arginine methyl ester; NO-synthase inhibitor) or 43 µmol/L losartan. Further, we assessed microvascular vasoconstrictor sensitivity to angiotensin II (10 -20 -10 -4 mol/L). Preeclampsia had significantly reduced endothelium-dependent dilation (-0.3±0.5 versus -1.0±0.4 log EC50 ; P Preeclampsia also had augmented vasoconstrictor sensitivity to angiotensin II (-10.2±1.3 versus -8.3±0.5; P =0.006). Angiotensin II type I receptor inhibition augmented endothelium-dependent vasodilation and NO-dependent dilation in preeclampsia but had no effect in healthy pregnancy. These data suggest that women who have had preeclampsia have persistent microvascular dysfunction postpartum

  18. Complicated Onychomycosis in Patients with Metabolic Syndrome: Clinical Aspects of Deviation in the Laboratory Signs of Endothelial Dysfunction and Polyhypovitaminosis

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    O.N. Nadashkevich

    2015-08-01

    Full Text Available The study involved 93 patients aged 52 to 85 years with metabolic syndrome and concomitant complicated fungal nail infection. In all patients we have measured the levels of nitric oxide and endothelin-1. The content of B1, B2, PP, B6 and C vitamins in the blood, and urine excretion of derivatives before and during the treatment of patients with destructive onychomycosis were studied. It is noted that in the majority of patients (aged over 50 years with polyоnychomycosis and comorbid underlying metabolic syndrome has endothelial dysfunction and multivitamin deficiency that requires correction.

  19. DRY NEEDLING INCREASES MUSCLE THICKNESS IN A SUBJECT WITH PERSISTENT MUSCLE DYSFUNCTION: A CASE REPORT.

    Science.gov (United States)

    Cross, Kevin M; McMurray, Michael

    2017-06-01

    Muscle dysfunction is very common following musculoskeletal injury. There is very little evidence to suggest that muscle function may be positively impacted by soft tissue interventions, such as dry needling. The purpose of this case report is to describe the immediate effect of dry needling on muscle thickness in a subject after shoulder surgery. A 22 year-old competitive gymnast presented seven months post shoulder surgery with significant impairments and functional limitations. Previous physical therapy focused on restoration of range of motion and strength using general exercise interventions, but the subject had persistent tightness and weakness of musculature of the shoulder complex. A subject-specific physical therapy program including manual physical therapy resulted in significant initial improvement, but lack of flexibility and weakness of the rotator cuff limited progress. Dry needling was used to address persistent myofascial trigger points. Immediately after dry needling the infraspinatus, the muscle's thickness was significantly improved as measured by rehabilitative ultrasound imaging. There was a corresponding increase in force production of external rotation at 90 degrees of abduction. Minimal research exists that validates the potential of dry needling on muscle function, as assessed by muscle thickness measured using rehabilitative ultrasound imaging. The results of this case report suggest that dry needling contributed to improvement in muscle thickness and strength in a subject with muscle dysfunction following an injury. 4.

  20. Erectile dysfunction in patients with psoriasis: potential impact of the metabolic syndrome.

    Science.gov (United States)

    Tasliyurt, T; Bilir, Y; Sahin, S; Seckin, H Y; Kaya, S U; Sivgin, H; Demir, A K; Erdemir, F

    2014-01-01

    Psoriasis is a chronic inflammatory skin disease that affects up to 5.5% of world population and is associated with erectile dysfunction (ED). Aim of the present study was to investigate impact of metabolic syndrome (MetS) on association between psoriasis and ED as well as to improve our understanding of this association via studying other possible causes of ED such as psychological factors and disease effects. The patient group included 37 male psoriasis patients and control group 28 healthy men. Severity of psoriasis was determined using Psoriasis Area and Severity Index (PASI), and ED was evaluated using International Index of Erectile Function (IIEF) Scale. Psychiatric state of the patients were determined using Beck Depression Inventory (BDI). MetS was diagnosed using the National Cholesterol Education Program Adult Treatment Panel III criteria. MetS, ED prevalence and BDI score were significantly higher in psoriasis patient group (p = 0.032, p = 0.018 and p old age and smoking (but not MetS) were found to be independent predictors of ED. ED, MetS and depression frequencies were significantly higher in psoriasis patient group. In addition, psoriasis severity and ED parameters were closely associated. Depression, old age and smoking were found to be independent risk factors for ED.

  1. Neurological Dysfunction Associated with Antiphospholipid Syndrome: Histopathological Brain Findings of Thrombotic Changes in a Mouse Model

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    Lea Ziporen

    2004-01-01

    Full Text Available The aim of this work was to study the pathological processes underlying neurological dysfunctions displayed by BALB/C mice induced with experimental antiphospholipid syndrome (APS, as we have previously reported. Experimental APS was induced in female BALB/C mice by immunization with a pathogenic monoclonal anticardiolipin (aCL antibody, H-3 (n=10, or an irrelevant immunoglobulin in controls (n=10. Mice immunized with H-3 developed clinical and neurological manifestations of APS, including: embryo resorption, thrombocytopenia neurological defects and behavioral disturbances. In mouse sera, the titer of various autoantibodies were elevated, including: anti-phospholipids (aPLs, anti-2 glycoprotein-I (β2GPI, anti-endothelial cell antibodies (AECA and low titer of anti-dsDNA antibodies. Five months after APS induction, mice were sacrificed and brain tissue specimens were processed for hematoxylin and eosin (H&E, immunofluorescence staining and transmission electron microscopy (TEM. H&E staining of cortical tissue derived from all APS mice revealed mild inflammation, localized mainly in the meninges. Prominent IgG deposits in the large vessel walls and perivascular IgG leakage were observed by immunofluorescence. No large thrombi were observed in large vessels. However, EM evaluation of cerebral tissue revealed pathological changes in the microvessels. Thrombotic occlusion of capillaries in combination with mild inflammation was the main finding and may underlie the neurological defects displayed by mice with APS.

  2. Pathophysiology of primary burning mouth syndrome with special focus on taste dysfunction: a review.

    Science.gov (United States)

    Kolkka-Palomaa, M; Jääskeläinen, S K; Laine, M A; Teerijoki-Oksa, T; Sandell, M; Forssell, H

    2015-11-01

    Primary burning mouth syndrome (BMS) is a chronic oral condition characterized by burning pain often accompanied with taste dysfunction and xerostomia. The most compelling evidence concerning BMS pathophysiology comes from studies on the somatosensory system using neurophysiologic or psychophysical methods such as blink reflex, thermal quantitative sensory testing, as well as functional brain imaging. They have provided convincing evidence for neuropathic involvement at several levels of the somatosensory system in BMS pain pathophysiology. The number of taste function studies trying to substantiate the subjective taste disturbances or studies on salivary factors in BMS is much more limited, and most of them suffer from definitional and methodological problems. This review aims to critically evaluate the existing literature on the pathophysiology of BMS, paying special attention to the correctness of case selection and the methodology used in published studies, and to summarize the current state of knowledge. Based on the recognition of several gaps in the current understanding of the pathophysiology of BMS especially as regards taste and pain system interactions, the review ends with future scenarios for research in this area. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. Evaluation of laser therapy and routine treatment modalities in the management of myofascial pain dysfunction syndrome

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    Smriti B Jagdhari

    2015-01-01

    Full Text Available Objective: To evaluate the efficacy of laser as a monotherapy and in combination with exercise therapy in comparison to only exercise in the treatment of Myofascial Pain Dysfunction Syndrome (MPDS or Temporomandibular Myofascial Pain. Materials and Methods: A total of 60 patients with MPDS were included in the study and were randomly divided into three groups: exercise, laser, and the combination of both (exercise and laser. Results: Significant reduction in pain at rest and pain on movement was observed with all three types of treatment modalities. Pain reduction was more in those patients who received combination of exercise and laser therapy. Similarly, decrease in the muscle tenderness was more when combination of exercise and laser therapy was used. Conclusion: The ideal therapy should be fast, cheap, and have a long-term effect. Laser (Helium Neon as monotherapy or in combination with exercise had shown promising results and can be used as an effective treatment modality for the treatment of MPDS.

  4. Assessment of prevalence study of 40 variables related to painful dysfunction syndrome of masticatory muscles in patients referred to faculty of dentistry in Mashhad, Northeast of Iran

    OpenAIRE

    Hamed Mortazavi; Abbas Javadzadeh; Zahra Delavarian; Zare Mahmoodabadi

    2010-01-01

    Introduction: Painful dysfunction syndrome of masticatory muscles is one of the most important causes of pain in orofacial region. Therefore, the aim of this study was to evaluate the prevalency of 40 variables related to this disorder. Materials and Methods: A total 39 patients (32 females, 7 males) with painful dysfunction syndrome of masticatory muscles were studied. Patients were evaluated for prevalence of age, sex, job, marriage status, masticatory muscles tenderness, maximum mouth open...

  5. HIV-infected persons with type 2 diabetes show evidence of endothelial dysfunction and increased inflammation

    DEFF Research Database (Denmark)

    Hove-Skovsgaard, Malene; Gaardbo, Julie Christine; Kolte, Lilian

    2017-01-01

    BACKGROUND: Increased incidence of cardiovascular diseases (CVD) in both HIV infection and type 2 diabetes (T2D) compared to the general population has been described. Little is known about the combined effect of HIV infection and T2D on inflammation and endothelial function, both of which may...... contribute to elevated risk of CVD. METHODS: Cross-sectional study including 50 HIV-infected persons on combination anti-retroviral therapy (cART), with HIV RNA persons (n = 22 with T2D (HIV-T2D+) and n = 28.......001), which was mainly driven by a close correlation in HIV + T2D+ (rs = 0.63, p = 0.001). CONCLUSION: Elevated inflammation and evidence of endothelial dysfunction was found in HIV-infected persons with T2D. The effect on inflammation was mainly driven by T2D, while both HIV infection and T2D may contribute...

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

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    Neera Sharma

    2015-01-01

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

  7. Increased central arterial stiffness explains baroreflex dysfunction in spinal cord injury.

    Science.gov (United States)

    Phillips, Aaron A; Krassioukov, Andrei V; Ainslie, Philip N; Cote, Anita T; Warburton, Darren E R

    2014-06-15

    After cervical spinal cord injury (SCI), orthostatic hypotension and intolerance commonly ensue. The cardiovagal baroreflex plays an important role in the acute regulation of blood pressure (BP) and is associated with the onset of presyncope. The cardiovagal baroreflex is dysfunctional after SCI; however, this may be influenced by either increased stiffening of the arteries containing the stretch-receptors (which has been shown in SCI) or a more downstream neural mechanism (i.e., solitary nucleus, sinoatrial node). Identifying where along this pathway baroreflex dysfunction occurs may highlight a potential therapeutic target. This study examined the relationship between spontaneous cardiovagal baroreflex sensitivity (BRS) and common carotid artery (CCA) stiffness in those with high level SCI before and after midodrine (alpha1-agonist) administration, as well as in able-bodied controls, to evaluate: (1) the role arterial stiffening plays mediating baroreflex function after SCI and (2) the effect of normalizing BP on these parameters. Three to five min recordings of beat-by-beat BP and heart rate, as well as 30 sec duration recordings of CCA diameter were used for analysis. All participants were tested supine and during upright-tilt. Arterial stiffness (β-stiffness index) was elevated in those with SCI when upright (+12%; p<0.05). Further, β-stiffness index was negatively related to reduced BRS in those with SCI when upright (R2=0.55; p<0.05), but not in able-bodied persons. Normalizing BP did not improve BRS or CCA stiffness. This study clearly shows that reduced BRS is closely related to increased arterial stiffness in the population with SCI.

  8. Mucosal pathobiology and molecular signature of epithelial barrier dysfunction in the small intestine in irritable bowel syndrome.

    Science.gov (United States)

    González-Castro, Ana M; Martínez, Cristina; Salvo-Romero, Eloísa; Fortea, Marina; Pardo-Camacho, Cristina; Pérez-Berezo, Teresa; Alonso-Cotoner, Carmen; Santos, Javier; Vicario, María

    2017-01-01

    Irritable bowel syndrome (IBS) is one of the most prevalent gastrointestinal disorders in developed countries. Its etiology remains unknown; however, a common finding, regardless of IBS subtype, is the presence of altered intestinal barrier. In fact, signaling and location of cell-to-cell adhesion proteins, in connection with increased immune activity, seem abnormal in the intestinal epithelium of IBS patients. Despite that most research is performed on distal segments of the intestine, altered permeability has been reported in both, the small and the large bowel of all IBS subtypes. The small intestine carries out digestion and nutrient absorption and is also the site where the majority of immune responses to luminal antigens takes place. In fact, the upper intestine is more exposed to environmental antigens than the colon and is also a site of symptom generation. Recent studies have revealed small intestinal structural alterations of the epithelial barrier and mucosal immune activation in association with intestinal dysfunction, suggesting the commitment of the intestine as a whole in the pathogenesis of IBS. This review summarizes the most recent findings on mucosal barrier alterations and its relationship to symptoms arising from the small intestine in IBS, including epithelial structural abnormalities, mucosal immune activation, and microbial dysbiosis, further supporting the hypothesis of an organic origin of IBS. © 2016 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.

  9. Association of inflammation and endothelial dysfunction with metabolic syndrome, prediabetes and diabetes in adults from Inner Mongolia, China

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    Kelly Tanika N

    2011-10-01

    Full Text Available Abstract Background We examined the association of biomarkers of inflammation and endothelial dysfunction with diabetes and metabolic syndrome (MetS in persons from Inner Mongolia. Methods A cross-sectional study was conducted among 2,536 people aged 20 years and older from Inner Mongolia, China. Overnight fasting blood samples were obtained to measure plasma concentrations of high sensitivity C-reactive protein (hsCRP, soluble inter-cellular adhesion molecule-1 (sICAM-1, sE-selectin, angiotensin II, high density lipoprotein cholesterol, triglycerides, and blood glucose. Waist circumference and blood pressure were measured by trained staff. MetS was defined according to the modified ATP III definition for Asians. Elevated level of the biomarker was defined as values in the upper tertile of the distribution. Participants were categorized into one of four groups based on the presence or absence of metabolic and glycemic abnormalities: 1 free of prediabetes, diabetes and MetS (reference group, 2 prediabetes or diabetes only, 3 MetS without prediabetes or diabetes, and 4 MetS plus prediabetes or diabetes. The multivariable models are adjusted for age, gender, smoking, drinking, family history of hypertension, and body mass index. Results Among study participants, 18.5% had prediabetes, 3.6% had diabetes, and 27.4% of the entire study population had 3 or more components of the MetS. Elevated hsCRP was associated with an increased odds of prediabetes or diabetes only, MetS without prediabetes or diabetes, and MetS plus prediabetes or diabetes with multivariable adjusted odds ratios (95% confidence intervals of 2.3 (1.7-3.1, 3.0 (2.4-3.8, and 5.8 (4.5-7.5, respectively. Elevated sICAM-1 was associated with increased odds (95% CI of prediabetes or diabetes only (2.1, 1.6-2.9 and MetS plus prediabetes or diabetes (4.2, 3.2-5.3 but was not associated with MetS alone. Elevated sE-selectin was associated with a modestly increased risk of MetS (OR 1.7, 95

  10. THE ROLE OF TEMPOROMANDIBULAR JOINT DYSFUNCTION AND OCCLUSAL DISORDERS IN THE PATHOPHYSIOLOGY OF SOMATOGENIC COCHLEAR AND VESTIBULAR SYNDROME

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    A. V. Boldin

    2016-01-01

    Full Text Available Rationale: Temporomandibular joint (TMJ dysfunction and occlusion abnormalities can cause cochlear and vestibular disorders. This issue is at the crossroads of several disciplines: otoneurology, physiotherapy, dentistry, medical rehabilitation and posturology, which often makes it difficult to timely diagnose them and delays the onset of treatment. Aim: To assess the role of abnormal dental occlusion and TMJ disorders in the pathophysiology and clinical manifestation of cochleovestibular syndrome. Materials and methods: We examined 300 subjects with clinical signs of cochleovestibular syndrome, asymmetry of occlusion and/or TMJ dysfunction (the main group, 55 patients with signs of TMJ structural and functional disorders and occlusal disorders without a cochleovestibular syndrome (the reference group, and 35 healthy volunteers (the control group. All patients were examined by a neurologist, an ENT specialist, a dentist and a physiotherapist. A series of additional investigations of the brachiocephalic vessels, cervical spine, TMJ, auditory and vestibular function, premature tooth contacts were performed. Results: The main group patients had high values of TMJ dysfunction in the Hamburg test (5.85 vs 2.2 in the reference group and higher proportions of patients with moderate and severe TMJ dysfunction (n = 243, 81% and n = 13, 23.7%, respectively. The functional muscle test parameters and the results of manual muscle testing in the main group patients were significantly different from those in the control group (р < 0.05, whereas most values obtained in the reference group did not differ significantly (р > 0.05. Patients with cochleoves-tibular syndrome had 2 to 3-fold higher rates of vertebrogenic dysfunctions than those from the reference group. The video nystamography technique detected the positional cervical nystagmus in 100% (n = 300 of patients from the main group, whereas there were no nystagmus in those from the reference group

  11. Increased bladder permeability in interstitial cystitis/painful bladder syndrome

    Science.gov (United States)

    Greenwood-Van Meerveld, Beverley; Wisniewski, Amy B.; VanGordon, Samuel; Lin, HsuehKung; Kropp, Bradley P.; Towner, Rheal A.

    2015-01-01

    The definition of interstitial cystitis (IC) has evolved over the years from being a well-defined entity characterized by diagnostic lesion (Hunner’s ulcer) in the urothelium to a clinical diagnosis by exclusion [painful bladder syndrome (PBS)]. Although the etiology is unknown, a central theme has been an association with increased permeability of the bladder. This article reviews the evidence for increased permeability being important to the symptoms of interstitial cystitis/painful bladder syndrome (IC/PBS) and in treating the disorder. Recent work showing cross-communication among visceral organs is also reviewed to provide a basis for understanding IC/PBS as a systemic disorder of a complex, interconnected system consisting of the bladder, bowel and other organs, nerves, cytokine-responding cells and the nervous system. PMID:26751576

  12. [Cardiometabolic and cardiorenal syndromes interactions in Algerian diabetic-hypertensive patient: interest of predictive multi-biomarkers strategy to renal dysfunction].

    Science.gov (United States)

    Zoubiri, Houda; Kacimi, Ghouti; Haffaf, El Mahdi; Oudjit, Brahim; Adjroud, Naima; Koceir, Elhadj-Ahmed

    2015-01-01

    The coexistence of essential hypertension (EH) in type 2 diabetic (T2D) patients greatly enhances chronic kidney disease. To assess the acute renal dysfunction in two cohorts of diabetic-hypertensive subjects. The inaugural pathology for each group is either T2D or EH. The study was undertaken on 506 subjects who were divided in 5 groups according to age and sex: diabetic, hypertensive, diabetic- hypertensive (DH and HD) and healthy groups. Patients were phenotyped regarding their cardiometabolic syndrome (CMS) profile using the NCEP/ATPIII criteria and cardiorenal syndrome (CRS) according to the International kidney foundation. Hypertension was defined as systolic (SBP) and diastolic (DBP) blood pressure ≥ 140/90 mmHg, respectively. Insulin resistance (IR) was assessed by Homa-IR model. Glomerular filtration rate (GFR) by creatinine clearance. CMS and CRS parameters were determined on Cobas®. The SBP and DBP measurements by electronic blood pressure using Omron 705 CP® type. IR was found in all diabetics and hypertensive patients. Dyslipidemia are correlated to % body fat mass accretion in all groups. In DH group, the renal disorder is confirmed by decreased GFR (30%) and increased microalbuminuria (> 30 mg/24h); associated with increased NT-pro BNP and plasma aldosterone depletion. Several biomarkers are necessary to detection kidney disease and renal failure prevention in diabetic patients to hypertensive state. The renal dysfunction was significantly related to T2D-EH disease.

  13. Immunotherapeutical role of Flt3 ligand amplification of pulmonary dendritic cells in murine multiple organ dysfunction syndrome in vivo

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    Hong-wei WANG

    2012-08-01

    Full Text Available Objective To explore the therapeutic effect of Flt3 ligand (Flt3L on multiple organ dysfunction syndrome (MODS model via amplification of lung dendritic cells. Methods Animal model of MODS was replicated by injecting zymosan into the peritoneal cavity of BALB/c mice, and then the mice were randomly divided into Flt3L treatment group, MODS group, Flt3L group and control group. Mortality rate was observed. After 12 days, lung mononuclear cells were isolated by density gradient centrifugation and analyzed with flow cytometry. Blood AST, ALT, creatinine, lipase, amylase and glucose were determined by automatic biochemical analyzer. Pathological changes in lung tissue were observed under light microscope. Results Mortality in Flt3L treatment group decreased dramatically compared with MODS group. The proportions of myeloid, plasmacytoid and I-Ad+ DCs in Flt3L group were remarkably increased compared with control group, and the proportion of the three DC subsets in MODS group was much lower than that in control group. Howerver, Flt3L treatment dramatically increased the proportion of them in MODS group. In MODS group, the level of ALT, AST, lipase, amylase and creatinine remarkably increased and blood glucose decreased compared with that of Flt3L and control groups; but in Flt3L treatment group, the level of ALT, AST, lipase, amylase and creatinine decreased and blood glucose increased dramatically, and lung injury mitigated obviously compared with MODS group. Conclusion Flt3L could attenuate lung tissue injury in MODS model, improve organ function, and lower the mortality of experimental animals, thus exerting its immunotherapeutic effects by in vivo amplification of lung dendritic cells.

  14. Association Among Metabolic Syndrome, Testosterone Level and Severity of Erectile Dysfunction

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    Hsin-Chih Yeh

    2008-05-01

    Full Text Available The purpose of this study was to determine the influence of metabolic syndrome (MS and serum testosterone in patients with erectile dysfunction (ED and their possible association. A total of 103 men with ED were enrolled. The International Index of Erectile Function (IIEF questionnaire was used to assess erectile condition. MS was defined according to the criteria formulated by the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III and the International Diabetes Federation (IDF. The mean age of the study population was 57.5 ± 10.7 years, with an average IIEF of 14.7 ± 6.7. The age and prevalence of MS using the NCEP ATP III criteria, but not the IDF criteria, were significantly different between mild and moderate/severe ED patients (p = 0.031 and 0.009, respectively. The percentage of hypertension (78.6% vs. 36.2%; p < 0.001 and raised fasting glucose levels (46.4% vs. 19.1%; p = 0.004 were significantly higher in the moderate/severe ED group, and both differences remained significant in multivariate analysis (p = 0.001 and 0.042, respectively. In addition, serum testosterone levels were significantly lower in ED patients with MS (p = 0.002. In summary, the presence of MS is associated with more severe ED. Among the components of MS, elevated blood pressure and fasting blood glucose were independent risk factors. NCEP ATP III criteria seem to correlate better with the degree of ED than the IDF definition. Our results also indicate that MS is associated with a lower testosterone level in patients with ED.

  15. Traditional Persian Medicine and management of metabolic dysfunction in polycystic ovary syndrome.

    Science.gov (United States)

    Hosseinkhani, Ayda; Asadi, Nasrin; Pasalar, Mehdi; Zarshenas, Mohammad M

    2018-01-01

    Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. Its cause is unknown and it remains the most enigmatic of reproductive disorders. The extant written documents of Traditional Persian Medicine (TPM) - with holistic approaches towards human health - contain remedies used for centuries. Before further experimental research on any of these treatments, it is appropriate to study current related scientific evidence on their possible pharmacological actions. This work aims to study PCOS and its treatments in TPM. To collect data from medieval medicinal texts, six of the most famous manuscripts of Persian medicine were studied. Medicinal treatments for a problem similar to PCOS were searched for in these books. The plants were listed and their authentications were confirmed in accordance with botanical books. PubMed and ScienceDirect databases were searched for related mechanisms of action or pharmacological activities of the medicinal plants reported. From numerous articles, the current work tried to cite the latest publications with regard to each reported plant and PCOS-related mechanisms of action. We studied herbal treatments recommended by ancient Persians to treat a condition called Habs-e-tams , which had the same symptoms of PCOS. It could be concluded that ancient physicians not only wanted to treat the irregular menstrual cycle-which is the most obvious symptom of PCOS-but also their treatment options were aimed at ameliorating the related underlying metabolic dysfunctions. The recommended herbs, which have the most scientific proof for their related actions, can be studied further in experimental analyses.

  16. Evaluation of Meibomian Gland Dysfunction in Polycystic Ovary Syndrome and Obesity.

    Science.gov (United States)

    Baser, Gonen; Yildiz, Nurdan; Calan, Mehmet

    2017-05-01

    Purpose/Aim of the study: The purpose of this study was to evaluate the interaction between Polycystic ovary syndrome (PCOS) and Meibomian gland dysfunction (MGD) and obesity, to reveal whether there is a correlation between the testosterone levels and body-mass index (BMI) levels and the dry-eye complaints of these patients. The study included 92 patients with PCOS and 52 healthy patients from March 2013 to March 2014. All patients underwent a physical examination, pelvic ultrasound, and clinical and biochemical tests, including free testosterone levels to confirm the diagnosis of PCOS. The BMIs of all subjects were recorded. In addition, the presence of posterior blepharitis, as an indicator of MGD, was recorded. All patients underwent the dry-eye tests including Schirmer 1 and tear film break-up time (BUT). Complaints of dry-eye of the patients were evaluated with the ocular surface disease index (OSDI) questionnaire. The scores of both groups were compared. The presence of MGD was 72.82% in the PCOS group and 61.53% in the control group. There was no correlation between the testosterone levels and study parameters in both groups. BUT levels negatively correlated with BMI in subjects without PCOS (r = -0.520, p = 0.001), whereas positively correlated with MGD and OSDI scores (r = 0.610, p = 0.632; p = 0.001, p = 0.001; respectively). Tear film instability due to MGD is common in PCOS and in subjects with high BMI. The MGD in PCOS patients is independent of the BMI.

  17. Obesity-related metabolic dysfunction in dogs: a comparison with human metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Tvarijonaviciute Asta

    2012-08-01

    Full Text Available Abstract Background Recently, metabolic syndrome (MS has gained attention in human metabolic medicine given its associations with development of type 2 diabetes mellitus and cardiovascular disease. Canine obesity is associated with the development of insulin resistance, dyslipidaemia, and mild hypertension, but the authors are not aware of any existing studies examining the existence or prevalence of MS in obese dogs. Thirty-five obese dogs were assessed before and after weight loss (median percentage loss 29%, range 10-44%. The diagnostic criteria of the International Diabetes Federation were modified in order to define canine obesity-related metabolic dysfunction (ORMD, which included a measure of adiposity (using a 9-point body condition score [BCS], systolic blood pressure, fasting plasma cholesterol, plasma triglyceride, and fasting plasma glucose. By way of comparison, total body fat mass was measured by dual-energy X-ray absorptiometry, whilst total adiponectin, fasting insulin, and high-sensitivity C-reactive protein (hsCRP were measured using validated assays. Results Systolic blood pressure (P = 0.008, cholesterol (P = 0.003, triglyceride (P = 0.018, and fasting insulin (P P = 0.001. However, hsCRP did not change with weight loss. Prior to weight loss, 7 dogs were defined as having ORMD, and there was no difference in total fat mass between these dogs and those who did not meet the criteria for ORMD. However, plasma adiponectin concentration was less (P = 0.031, and plasma insulin concentration was greater (P = 0.030 in ORMD dogs. Conclusions In this study, approximately 20% of obese dogs suffer from ORMD, and this is characterized by hypoadiponectinaemia and hyperinsulinaemia. These studies can form the basis of further investigations to determine path genetic mechanisms and the health significance for dogs, in terms of disease associations and outcomes of weight loss.

  18. Insulin resistance, serum uric acid and metabolic syndrome are linked to cardiovascular dysfunction in pediatric obesity.

    Science.gov (United States)

    Genoni, Giulia; Menegon, Veronica; Secco, Gioel Gabrio; Sonzini, Michela; Martelli, Massimiliano; Castagno, Matteo; Ricotti, Roberta; Monzani, Alice; Aronici, Michele; Grossini, Elena; Di Mario, Carlo; Bona, Gianni; Bellone, Simonetta; Prodam, Flavia

    2017-12-15

    Childhood obesity is associated with cardiovascular abnormalities but little is known on the potential correlation between early cardiovascular and metabolic alterations. Aims of this study were 1) to evaluate early cardiovascular abnormalities in a large population of obese children and adolescents compared with a normal weight counterpart, 2) to investigate their potential association with insulin resistance (IR), serum uric acid (sUA) and metabolic syndrome (MetS). This was a single-center case-control study. Eighty obese (OB) subjects (6-16years) and 20 normal weight (NW) matched controls were consecutively recruited. In the whole population we performed an anthropometric and a cardiovascular assessment. OB patients also underwent an OGTT and biochemical evaluations. OB children showed greater left atrial (LA) and ventricular (LV) dimensions and mass and higher carotid artery intima-media thickness (CIMT), compared with NW controls. The BMI z-score, waist circumference, IR and sUA were positively related with LA and LV dimensions and mass. OB subjects with MetS (46.3%) showed greater LA diameter (p=0.001) and LV area (p=0.01) and volume (p=0.04) compared with OB children without MetS. LA diameter and LV dimensions and mass were significantly dependent on the number of criteria for MetS. Mets, sUA and IR were significant predictors of left heart dimensions and mass in obese children. Obesity and MetS are associated with abnormal cardiovascular response during childhood. Hyperuricemia can be an early marker of cardiovascular dysfunction and the routine determination of circulating levels of sUA should be implemented during risk stratification among pediatric age. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome.

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    Noa Lamm

    Full Text Available BACKGROUND: Eukaryotic chromosomes end with telomeres, which in most organisms are composed of tandem DNA repeats associated with telomeric proteins. These DNA repeats are synthesized by the enzyme telomerase, whose activity in most human tissues is tightly regulated, leading to gradual telomere shortening with cell divisions. Shortening beyond a critical length causes telomere uncapping, manifested by the activation of a DNA damage response (DDR and consequently cell cycle arrest. Thus, telomere length limits the number of cell divisions and provides a tumor-suppressing mechanism. However, not only telomere shortening, but also damaged telomere structure, can cause telomere uncapping. Dyskeratosis Congenita (DC and its severe form Hoyeraal-Hreidarsson Syndrome (HHS are genetic disorders mainly characterized by telomerase deficiency, accelerated telomere shortening, impaired cell proliferation, bone marrow failure, and immunodeficiency. METHODOLOGY/PRINCIPAL FINDINGS: We studied the telomere phenotypes in a family affected with HHS, in which the genes implicated in other cases of DC and HHS have been excluded, and telomerase expression and activity appears to be normal. Telomeres in blood leukocytes derived from the patients were severely short, but in primary fibroblasts they were normal in length. Nevertheless, a significant fraction of telomeres in these fibroblasts activated DDR, an indication of their uncapped state. In addition, the telomeric 3' overhangs are diminished in blood cells and fibroblasts derived from the patients, consistent with a defect in telomere structure common to both cell types. CONCLUSIONS/SIGNIFICANCE: Altogether, these results suggest that the primary defect in these patients lies in the telomere structure, rather than length. We postulate that this defect hinders the access of telomerase to telomeres, thus causing accelerated telomere shortening in blood cells that rely on telomerase to replenish their telomeres

  20. Diminished Telomeric 3′ Overhangs Are Associated with Telomere Dysfunction in Hoyeraal-Hreidarsson Syndrome

    Science.gov (United States)

    Lamm, Noa; Ordan, Elly; Shponkin, Rotem; Richler, Carmelit; Aker, Memet; Tzfati, Yehuda

    2009-01-01

    Background Eukaryotic chromosomes end with telomeres, which in most organisms are composed of tandem DNA repeats associated with telomeric proteins. These DNA repeats are synthesized by the enzyme telomerase, whose activity in most human tissues is tightly regulated, leading to gradual telomere shortening with cell divisions. Shortening beyond a critical length causes telomere uncapping, manifested by the activation of a DNA damage response (DDR) and consequently cell cycle arrest. Thus, telomere length limits the number of cell divisions and provides a tumor-suppressing mechanism. However, not only telomere shortening, but also damaged telomere structure, can cause telomere uncapping. Dyskeratosis Congenita (DC) and its severe form Hoyeraal-Hreidarsson Syndrome (HHS) are genetic disorders mainly characterized by telomerase deficiency, accelerated telomere shortening, impaired cell proliferation, bone marrow failure, and immunodeficiency. Methodology/Principal Findings We studied the telomere phenotypes in a family affected with HHS, in which the genes implicated in other cases of DC and HHS have been excluded, and telomerase expression and activity appears to be normal. Telomeres in blood leukocytes derived from the patients were severely short, but in primary fibroblasts they were normal in length. Nevertheless, a significant fraction of telomeres in these fibroblasts activated DDR, an indication of their uncapped state. In addition, the telomeric 3′ overhangs are diminished in blood cells and fibroblasts derived from the patients, consistent with a defect in telomere structure common to both cell types. Conclusions/Significance Altogether, these results suggest that the primary defect in these patients lies in the telomere structure, rather than length. We postulate that this defect hinders the access of telomerase to telomeres, thus causing accelerated telomere shortening in blood cells that rely on telomerase to replenish their telomeres. In addition, it

  1. The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome.

    Science.gov (United States)

    Veerapandiyan, Aravindhan; Blalock, David; Ghosh, Srija; Ip, Edward; Barnes, Craig; Shashi, Vandana

    2011-04-01

    To report our experience with cephalometry in evaluating velopharyngeal dysfunction (VPD) in velocardiofacial syndrome (VCFS) and its utility in assessing the role of cervical spine abnormalities in VPD, prior to surgical correction of VPD. Clinical charts and cephalometric radiographs done prior to surgery for VPD were retrospectively analyzed to ascertain velopharyngeal measurements and cervical spine abnormalities. Twenty-six patients (age: 6-23 years) with molecularly confirmed VCFS. Wake Forest University Health Sciences (1997-2005). Cranial base angle, nasopharyngeal depth, velum length, and Need ratio at rest, velar dimple location, and velopharyngeal length during phonation; information on presence/absence of submucous cleft palate and cervical spine abnormalities were also obtained. The relationship between C1 anterior arch abnormalities and Need ratio was examined. Seventy-three percent of the VCFS patients had excessive nasopharyngeal depth, 80% had an abnormal Need ratio, 50% had a short velum, 81% had a submucous or occult submucous cleft palate, 90.5% had a cervical spine abnormality (C1 anterior arch abnormalities in 38%) and 11.5% had platybasia. There was a significant difference in the Need ratio between patients with and without C1 anterior arch abnormalities. Cephalometry can be used to delineate factors such as C1 vertebral abnormalities, excessive pharyngeal depth, and short velum that contribute to VPD in VCFS. This would help otolaryngologists better understand the anatomy prior to surgical treatment of VPD. This is the first study to highlight the frequent occurrence of C1 anterior arch abnormalities in VCFS. Copyright © 2011 The American Laryngological, Rhinological, and Otological Society, Inc., Rhinological, and Otological Society, Inc.

  2. Arsenic induces diabetic effects through beta-cell dysfunction and increased gluconeogenesis in mice

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    Liu, Su; Guo, Xuechao; Wu, Bing; Yu, Haiyan; Zhang, Xuxiang; Li, Mei

    2014-11-01

    Arsenic as a potential risk factor for type 2 diabetes has been received attention recently. However, the roles of arsenic on development of diabetes are unclear. In this study, we compared the influences of inorganic arsenic (iAs) on normal and diabetic mice by systems toxicology approaches. Although iAs exposure did not change glucose tolerance in normal mice, it caused the pancreatic β-cell dysfunction and increased gluconeogenesis and oxidative damages in liver. However, iAs exposure worsened the glucose tolerance in diabetic mice, which might be due to increased gluconeogenesis and impairment of pancreatic β-cell function. It is interesting that iAs exposure could improve the insulin sensitivity based on the insulin tolerance testing by the activation of glucose uptake-related genes and enzymes in normal and diabetic individuals. Our data suggested that iAs exposure could cause pre-diabetic effects by altering the lipid metabolism, gluconeogenesis and insulin secretion in normal individual, and worsen diabetic effects in diabetes individual by these processes. Insulin resistance might be not the reason of diabetic effects caused by iAs, indicating that mechanism of the diabetogenic effects of iAs exposure is different from the mechanism associated with traditional risk factors (such as obesity)-reduced type 2 diabetes.

  3. Chronic exposure to neonicotinoids increases neuronal vulnerability to mitochondrial dysfunction in the bumblebee (Bombus terrestris)

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    Moffat, Christopher; Pacheco, Joao Goncalves; Sharp, Sheila; Samson, Andrew J.; Bollan, Karen A.; Huang, Jeffrey; Buckland, Stephen T.; Connolly, Christopher N.

    2015-01-01

    The global decline in the abundance and diversity of insect pollinators could result from habitat loss, disease, and pesticide exposure. The contribution of the neonicotinoid insecticides (e.g., clothianidin and imidacloprid) to this decline is controversial, and key to understanding their risk is whether the astonishingly low levels found in the nectar and pollen of plants is sufficient to deliver neuroactive levels to their site of action: the bee brain. Here we show that bumblebees (Bombus terrestris audax) fed field levels [10 nM, 2.1 ppb (w/w)] of neonicotinoid accumulate between 4 and 10 nM in their brains within 3 days. Acute (minutes) exposure of cultured neurons to 10 nM clothianidin, but not imidacloprid, causes a nicotinic acetylcholine receptor-dependent rapid mitochondrial depolarization. However, a chronic (2 days) exposure to 1 nM imidacloprid leads to a receptor-dependent increased sensitivity to a normally innocuous level of acetylcholine, which now also causes rapid mitochondrial depolarization in neurons. Finally, colonies exposed to this level of imidacloprid show deficits in colony growth and nest condition compared with untreated colonies. These findings provide a mechanistic explanation for the poor navigation and foraging observed in neonicotinoid treated bumblebee colonies.—Moffat, C., Pacheco, J. G., Sharp, S., Samson, A. J., Bollan, K. A., Huang, J., Buckland, S. T., Connolly, C. N. Chronic exposure to neonicotinoids increases neuronal vulnerability to mitochondrial dysfunction in the bumblebee (Bombus terrestris). PMID:25634958

  4. Characterization of diastolic dysfunction in twin-twin transfusion syndrome: association between Doppler findings and ventricular hypertrophy.

    Science.gov (United States)

    Divanović, Allison; Cnota, James; Ittenbach, Richard; Tan, Xiao; Border, William; Crombleholme, Timothy; Michelfelder, Erik

    2011-08-01

    Twin-twin transfusion syndrome (TTTS) complicates 10% to 15% of monochorionic twin pregnancies. Cardiovascular changes of variable severity, such as ventricular hypertrophy, atrioventricular valve regurgitation, and systolic dysfunction, occur predominantly in recipient twins (RTs). It was the purpose of this study to perform a detailed assessment of ventricular geometry and diastolic function between controls, donor twins (DTs), and RTs. In this prospective, case-control study, two-dimensional, pulsed-wave, and Doppler tissue imaging were used to evaluate biventricular geometry and diastolic function in controls, DTs, and RTs. RTs were divided into two groups, severe and mild, on the basis of evidence of high central venous pressure. Specific variables evaluated included relative wall thickness, mitral valve and tricuspid valve E/A velocities, diastolic filling time corrected for heart rate, isovolumic relaxation time, and early (E') and late (A') diastolic myocardial velocities. A total of 120 fetuses (39 TTTS twin pairs and 42 controls) were compared. Increases in relative wall thickness and isovolumic relaxation time were seen in the mild group. In the severe group, further increases in relative wall thickness and isovolumic relaxation time as well as decreased diastolic filling time corrected for heart rate were accompanied by the appearance of a monophasic Doppler inflow profile and elevations in the E/E' ratio, consistent with elevated ventricular filling pressures. Concentric hypertrophy is observed in RTs affected by TTTS and is associated with impaired ventricular relaxation and shortened filling time. In severe cases, further decreases in diastolic filling time and Doppler signs of elevated ventricular filling pressures are present. Copyright © 2011 American Society of Echocardiography. Published by Mosby, Inc. All rights reserved.

  5. Dietary therapy in heart failure with preserved ejection fraction and/or left ventricular diastolic dysfunction in patients with metabolic syndrome.

    Science.gov (United States)

    von Bibra, Helene; Ströhle, Alexander; St John Sutton, Martin; Worm, Nicolai

    2017-05-01

    Heart failure is an ongoing epidemic of left ventricular (LV) dilatation and/or dysfunction due to the increasing prevalence of predisposing risk factors such as age, physical inactivity, (abdominal) obesity, and type-2-diabetes. Approximately half of these patients have diastolic heart failure (HFpEF). The prognosis of HFpEF is comparable to that of systolic heart failure, but without any known effective treatment. A biomathematically corrected diagnostic approach is presented that quantifies diastolic dysfunction via the predominant age dependency of LV diastolic function and unmasks (metabolic) risk factors, that are independent of age and, therefore, potential targets for therapy. Patients with HFpEF have reduced cardiac energy reserve that is frequently caused by insulin resistance. Consequently, HFpEF and/or LV diastolic dysfunction may be regarded as a cardiac manifestation of the metabolic syndrome (MetS). Accordingly, a causal therapy for metabolically induced dysfunction aims at normalizing insulin sensitivity by improving postprandial glucose and lipid metabolism. The respective treatments include 1) weight loss induced by dietary energy restriction that is often not sustained long-term and 2) independent of weight loss, focus on carbohydrate modification in exchange for an increase in protein and fat, ideally combined with an aerobic exercise program. Hence, beneficial effects of different macronutrient compositions in the dietary therapy of the underlying MetS are discussed together with the most recently available publications and meta-analyses. Modulation/restriction of carbohydrate intake normalizes postprandial hyperglycemic and insulinemic peaks and has been shown to improve all manifestations of the MetS and also to reduce cardiovascular risk. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Endothelial dysfunction but not increased carotid intima-media thickness in young European women with endometriosis.

    Science.gov (United States)

    Santoro, Luca; D'Onofrio, Ferruccio; Campo, Sebastiano; Ferraro, Pietro Manuel; Tondi, Paolo; Campo, Vincenzo; Flex, Andrea; Gasbarrini, Antonio; Santoliquido, Angelo

    2012-05-01

    Atherosclerosis is a chronic and degenerative disease developing typically in the elderly; nonetheless, a condition of accelerated atherosclerosis can be observed precociously in the presence of some diseases. Endometriosis, a chronic benign gynecological disorder, shows some characteristics, such as oxidative stress, systemic inflammation and a pro-atherogenic lipid profile, which could increase the risk of developing accelerated atherosclerosis. The aim of our study was to evaluate markers of subclinical atherosclerosis in young European women with endometriosis. This cross-sectional study included 37 women with endometriosis and 31 control subjects. The presence of subclinical atherosclerosis was investigated by ultrasound evaluation of common carotid intima-media thickness (ccIMT) and flow-mediated dilation (FMD); in addition, serum levels of lipids, inflammatory and coagulation parameters, as well as markers of endothelial inflammation and activation, were determined. Women with endometriosis showed significantly lower values of FMD compared with controls [mean difference: -4.62, 95% confidence interval (CI): -6.52, -2.73; P women with endometriosis had significantly higher values of inter-cellular adhesion molecule 1 (P women with endometriosis have more subclinical atherosclerosis, resulting in a higher risk of developing cardiovascular disorders. Moreover, our findings demonstrate that endothelial dysfunction can occur in the absence of structural atherosclerotic changes; its evaluation might be helpful in young women with endometriosis.

  7. Protein energy malnutrition associates with different types of hearing impairments in toddlers: Anemia increases cochlear dysfunction.

    Science.gov (United States)

    Kamel, Terez Boshra; Deraz, Tharwat Ezzat; Elkabarity, Rasha H; Ahmed, Rasha K

    2016-06-01

    This work aimed to highlight a challenging asymptomatic problem which is early detection of hearing impairment in toddlers with protein energy malnutrition (PEM) as a neuro-cognitive effect of PEM on developing brain in relation to hemoglobin level. 100 toddlers, aged 6-24 months, fifty with moderate/severe PEM and fifty healthy children, were included in study. Both TEOAEs and ABR testing were used to assess auditory function. Study reported an association between malnutrition and hearing impairment, 26% of cases had conductive deafness secondary to otitis media with effusion using tympanometry; 84.6% showed type B and 15.4% type C which may suggest developing or resolving otitis media. Their ABR showed 46% mild and 53% moderate impairment. 32% of PEM cases had sensory neural hearing loss and with type (A) tympanometry. Those were assessed using ABR; 58% had mild, 34% moderate and 8% profound impairment. 10% of PEM cases had mixed hearing loss with 50% type B and 50% type C tympanometry and their ABR showed moderate to profound impairment. TEOAEs latencies at different frequencies correlate negatively with hemoglobin level. Toddlers with moderate/severe PEM had hearing impairments of different types and degrees. Neuro-physiological methods could be early and safe detectors of auditory disorders especially in high-risk toddlers. Anemia increases risk for auditory dysfunction. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  8. Anthocyanin increases adiponectin secretion and protects against diabetes-related endothelial dysfunction.

    Science.gov (United States)

    Liu, Yan; Li, Dan; Zhang, Yuhua; Sun, Ruifang; Xia, Min

    2014-04-15

    Adiponectin is an adipose tissue-secreted adipokine with beneficial effects on the cardiovascular system. In this study, we evaluated a potential role for adiponectin in the protective effects of anthocyanin on diabetes-related endothelial dysfunction. We treated db/db mice on a normal diet with anthocyanin cyanidin-3-O-β-glucoside (C3G; 2 g/kg diet) for 8 wk. Endothelium-dependent and -independent relaxations of the aorta were then evaluated. Adiponectin expression and secretion were also measured. C3G treatment restores endothelium-dependent relaxation of the aorta in db/db mice, whereas diabetic mice treated with an anti-adiponectin antibody do not respond. C3G treatment induces adiponectin expression and secretion in cultured 3T3 adipocytes through transcription factor forkhead box O1 (Foxo1). Silencing Foxo1 expression prevented C3G-stimulated induction of adiponectin expression. In contrast, overexpression of Foxo1-ADA promoted adiponectin expression in adipocytes. C3G activates Foxo1 by increasing its deacetylation via silent mating type information regulation 2 homolog 1 (Sirt1). Furthermore, purified anthocyanin supplementation significantly improved flow-mediated dilation (FMD) and increased serum adiponectin concentrations in patients with type 2 diabetes. Changes in adiponectin concentrations positively correlated with FMD in the anthocyanin group. Mechanistically, adiponectin activates cAMP-PKA-eNOS signaling pathways in human aortic endothelial cells, increasing endothelial nitric oxide bioavailability. These results demonstrate that adipocyte-derived adiponectin is required for anthocyanin C3G-mediated improvement of endothelial function in diabetes.

  9. Juvenile fibromyalgia syndrome: Blunted heart rate response and cardiac autonomic dysfunction at diagnosis.

    Science.gov (United States)

    Maia, Magda M; Gualano, Bruno; Sá-Pinto, Ana L; Sallum, Adriana M E; Pereira, Rosa M R; Len, Claudio A; Terreri, Maria T A; Barbosa, Cassia M; Roschel, Hamilton; Silva, Clovis A

    2016-12-01

    To assess aerobic capacity and cardiac autonomic modulation in juvenile fibromyalgia syndrome (JFM) patients at diagnosis in response to graded exercise text. A multicenter cross-sectional study included 25 JFM patients and 25 healthy controls. Both groups participated only in physical education classes at school. A treadmill graded cardiorespiratory test was performed and the heart-rate (HR) response during exercise was evaluated by the chronotropic reserve (CR). Pain, functional ability, and health-related quality of life (HRQL) were assessed. The median current age was similar in JFM and controls (15 vs. 15 years, p = 0.890), as well as body mass index (p = 0.332), female gender (p = 1.000), and Tanner stages (p = 0.822). The medians of HRQL parameters (total score/physical health/psychosocial health) were significantly lower in JFM vs. controls according to patient and parent self-reports (p < 0.001). The median of peak HR [181 (150-198) vs. 197 (181-202)bpm, p < 0.001], chronotropic reserve [84 (53-98) vs. 99 (84-103)%, p < 0.001], and resting to peak [96 (65-181) vs. 127 (61-185)bpm, p = 0.010] were significantly lower in JFM compared to controls. The median of ΔHRR1 [15 (3-39) vs. 35 (9-52)bpm, p < 0.001], ΔHRR2 [37 (20-57) vs. 51 (32-94)bpm, p < 0.001], peak VO 2 [32.34 (24.24-39.65) vs. 36.4 (28.56-52.71)ml/kg/min, p = 0.005], peak speed [5 (4-6.3) vs. 5.9 (4.0-6.3)mph, p = 0.001], time to exhaustion [11.5 (8.5-14.5) vs. 14 (11-18)min, p < 0.001], and working capacity on power [3.37 (2.04-5.6) vs. 3.89 (2.91-6.55)W/kg, p = 0.006] were significantly lower in JFM compared to controls. The frequency of chronotropic incompetence (≤80%) was significantly higher in JFM vs. controls (p = 0.0006). This study identified chronotropic incompetence and delayed HR recovery in JFM patients, indicating autonomic dysfunction. Aerobic exercise training should be considered in all JFM patients and may improve cardiac autonomic impairment, thus reducing cardiovascular

  10. Increased risk of erectile dysfunction in men with multiple sclerosis: an Italian cross-sectional study.

    Science.gov (United States)

    Balsamo, Raffaele; Arcaniolo, Davide; Stizzo, Marco; Illiano, Ester; Autorino, Riccardo; Natale, Franca; Costantini, Elisabetta; Damiano, Rocco; De Sio, Marco

    2017-01-01

    Sexual dysfunctions (SDs) are common, but often underestimated symptoms in men with multiple sclerosis (MS). The most common sexual complaint in a multiple sclerosis male is erectile dysfunction (ED). The aim of this observational, cross-sectional study was to assess the prevalence of erectile dysfunction (ED) and its relationship with neurological disability, depression, urodynamic findings and lower urinary tract symptoms (LUTS) in these patients. From January 2014 to January 2016, there were 101 consecutive male patients with a diagnosis of Multiple Sclerosis according to the McDonald revised criteria and stable sexual relationships were included. Patients were evaluated with the International Index of Erectile Function (IIEF-15), Sexual Quality of Life Questionnaire-Male version (SQoL-M), International Prostate Symptom Score (I-PSS) and the Beck Depression Inventory-II (BDI-II). Neurological impairment was assessed using the Expanded Disability Status Scale (EDSS). The presence of Detrusor Overactivity (DO), Detrusor Underactivity (DU) and Detrusor Sphincter Dyssynergia (DSD), was defined by International Continence Society (ICS) criteria. Erectile dysfunction (ED) defined according to the erectile function (EF)-subdomain score ≤25 was present in 75 patients (74.25%). Univariate regression analysis showed that Sexual Quality of Life Questionnaire-Male version (P Status Scale score (P = 0.001), Beck Depression Inventory-IIscore (P = 0.001),International Prostate Symptom Score (P = 0.001), Detrusor Underactivity (P = 0.002), Multiple Sclerosis-Secondary Progressive (P = 0.002) was significantly associated with erectile dysfunction. All significant findings in univariate analysis were then entered into a multiple logistic regression model. The results indicated that the Beck Depression Inventory-II score (P = 0.011) and International Prostate Symptom Score (P = 0.043) were the only independent predictive factors of erectile dysfunction onset in these patients

  11. Angiotensin II-Induced Endothelial Dysfunction is Temporally Linked with Increases in Intereukin-6 and Vascular Macrophage Accumulation

    Directory of Open Access Journals (Sweden)

    Sean P Didion

    2014-10-01

    Full Text Available Angiotensin II (Ang II is associated with vascular hypertrophy, endothelial dysfunction and activation of a number of inflammatory molecules, however the linear events involved in the development of hypertension and endothelial dysfunction produced in response to Ang II are not well defined. The goal of this study was to examine the dose- and temporal-dependent development of endothelial dysfunction in response to Ang II. Blood pressure and responses of carotid arteries were examined in control (C57Bl/6 mice and in mice infused with 50, 100, 200, 400, or 1000 ng/kg/min Ang II for either 14 or 28 Days. Infusion of Ang II was associated with graded and marked increases in systolic blood pressure and plasma Ang II concentrations. While low doses of Ang II (ie, 50 and 100 ng/kg/min had little to no effect on blood pressure or endothelial function, high doses of Ang II (e.g., 1000 ng/kg/min were associated with large increases in arterial pressure and marked impairment of endothelial function. In contrast, intermediate doses of Ang II (200 and 400 ng/kg/min while initially having no effect on systolic blood pressure were associated with significant increases in pressure over time. Despite increasing blood pressure, 200 ng/kg/min had no effect on endothelial function, whereas 400 ng/kg/min produced modest impairment on Day 14 and marked impairment of endothelial function on Day 28. The degree of endothelial dysfunction produced by 400 and 1000 ng/kg/min Ang II was reflective of parallel increases in plasma IL-6 levels and vascular macrophage content, suggesting that increases in arterial blood pressure precede the development of endothelial dysfunction. These findings are important as they demonstrate that along with increases in arterial pressure that increases in IL-6 and vascular macrophage accumulation correlate with the impairment of endothelial function produced by Ang II.

  12. Resveratrol ameliorates mitochondrial dysfunction but increases the risk of hypoglycemia following hemorrhagic shock.

    Science.gov (United States)

    Wang, Hao; Guan, Yuxia; Widlund, Anne Lykkegaard; Becker, Lance B; Baur, Joseph A; Reilly, Patrick M; Sims, Carrie A

    2014-12-01

    Hemorrhagic shock (HS) may contribute to organ failure, by profoundly altering mitochondrial function. Resveratrol (RSV), a naturally occurring polyphenol, has been shown to promote mitochondrial function and regulate glucose homeostasis in diabetes. We hypothesized that RSV during resuscitation would ameliorate HS-induced mitochondrial dysfunction and improve hyperglycemia following acute blood loss. With the use a decompensated HS model, male Long-Evans rats (n = 6 per group) were resuscitated with lactated Ringer's solution with or without RSV (30 mg/kg) and were killed before hemorrhage (sham), at severe shock, following resuscitation, and 18 hours after resuscitation. At each time point, the liver and kidney mitochondria were isolated to assess individual respiratory complexes (CI, CII, and CIV) and the production of reactive oxygen species (ROS). Blood samples were assayed for glucose, insulin, corticosterone, total glucagon-like peptide (GLP-1), glucagon, and serum cytokine levels. The Homeostatic Model Assessment-Insulin Resistance index was used to quantify insulin resistance. RSV supplementation following HS significantly improved mitochondrial function and decreased mitochondrial ROS production in both liver and kidney. RSV-treated animals had significantly lower blood glucose levels following resuscitation when compared with sham animals (116.0 ± 20.2 mg/dL vs. 227.7 ± 8.3 mg/dL, p GLP-1 levels (385.8 ± 56.6 ng/mL vs. 187.3 ± 11.1 ng/mL, p effect on plasma corticosterone, glucagon, or cytokine levels. Resuscitation with RSV restores mitochondrial function and decreases insulin resistance but may be associated with increased hypoglycemia. The observed antiglycemic effects of RSV may be mediated by decreased mitochondrial ROS and increased GLP-1 secretion.

  13. Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel.

    Science.gov (United States)

    Wang, Dao W; Crotti, Lia; Shimizu, Wataru; Pedrazzini, Matteo; Cantu, Francesco; De Filippo, Paolo; Kishiki, Kanako; Miyazaki, Aya; Ikeda, Tomoaki; Schwartz, Peter J; George, Alfred L

    2008-12-01

    Inherited cardiac arrhythmia susceptibility contributes to sudden death during infancy and may contribute to perinatal and neonatal mortality, but the molecular basis of this risk and the relationship to genetic disorders presenting later in life is unclear. We studied the functional and pharmacological properties of a novel de novo cardiac sodium channel gene (SCN5A) mutation associated with an extremely severe perinatal presentation of long-QT syndrome in unrelated probands of different ethnicity. Two subjects exhibiting severe fetal and perinatal ventricular arrhythmias were screened for SCN5A mutations, and the functional properties of a novel missense mutation (G1631D) were determined by whole-cell patch clamp recording. In vitro electrophysiological studies revealed a profound defect in sodium channel function characterized by approximately 10-fold slowing of inactivation, increased persistent current, slowing of recovery from inactivation, and depolarized voltage dependence of activation and inactivation. Single-channel recordings demonstrated increased frequency of late openings, prolonged mean open time, and increased latency to first opening for the mutant. Subjects carrying this mutation responded clinically to the combination of mexiletine with propranolol and survived. Pharmacologically, the mutant exhibited 2-fold greater tonic and use-dependent mexiletine block than wild-type channels. The mutant also exhibited enhanced tonic (2.4-fold) and use-dependent block ( approximately 5-fold) by propranolol, and we observed additive effects of the 2 drugs on the mutant. Our study demonstrates the molecular basis for a malignant perinatal presentation of long-QT syndrome, illustrates novel functional and pharmacological properties of SCN5A-G1631D, which caused the disorder, and reveals therapeutic benefits of propranolol block of mutant sodium channels in this setting.

  14. Erectile dysfunction in obstructive sleep apnea syndrome—Prevalence and determinants

    Directory of Open Access Journals (Sweden)

    T. Santos

    2012-03-01

    Full Text Available Introduction: OSAS (obstructive sleep apnea syndrome is defined by recurrent episodes of upper airway obstruction during sleep, causing multiple clinical consequences. Literature review suggests that OSAS induces a spectrum of abnormalities in neural, hormonal and vascular regulation that contribute to the development of ED (erectile dysfunction.The aims of this study were to estimate the prevalence of ED in OSAS patients and evaluate its determinants. Methods: 62 patients from Hospital S. João Sleep Laboratory with newly diagnosed OSAS were included in the study and answered the IIEF-5 (international index erectile function 5 item version questionnaire. Results: The prevalence of ED in OSAS patients was 64.4%. Age and diabetes constituted themselves as independent risk factors for more severe degrees of ED: OR = 1.226 (95% CI: 1.062–1.415 and OR = 31.205 (95% CI: 1.222–796.557, respectively. Compared with nonsmokers, ex-smokers group revealed a positive association with ED: OR = 4.32 (95% CI: 1.09–17.11. Hypertension and ACEI (angiotensin converting enzyme inhibitors or ARB (angiotensin II receptor blockers therapy were also correlated to ED symptoms: OR = 3.25 (95% CI: 1.09–9.65 and 7.39 (95% CI: 1.52–35.99, respectively.No association was found relating BMI (p = 0.254, alcoholic habits (p = 0.357, acute myocardial infarction (p = 0.315, dyslipidemia (p = 0.239, metabolic syndrome (p = 0.215 and ED.OSAS severity was not associated with ED in our sample. Conclusions: The prevalence of ED in OSAS patients is high. ED determinants in our sample were age and diabetes. Past smoking habits, hypertension and ACEI/ARB therapy also revealed a statistically significant association with ED. Resumo: Introdução: A SAOS (síndroma de apneia obstrutiva do sono define-se pela ocorrência frequente de obstrução da via aérea superior durante o sono, com m

  15. Subclinical myocardial dysfunction by tissue Doppler echocardiography in primary antiphospholipid syndrome: Preliminary results

    Directory of Open Access Journals (Sweden)

    Tarcila Fontes de Lima Gomes Lucena

    2018-01-01

    Conclusion: The present study demonstrated subclinical myocardial dysfunction using TDI in asymptomatic PAPS patients. TDI is non-invasive and cost effective. Prospective studies including a large number of participants in order to confirm these preliminary data are needed.

  16. [Apoptosis of interstitial cells of Cajal in deep muscular layer of small intestine in rats with multiple organ dysfunction syndrome].

    Science.gov (United States)

    Xie, Mingzheng; Qi, Qinghui

    2015-06-01

    To observe the apoptosis of interstitial cells of Cajal in deep muscular layer (ICC-DMP) of small intestine in rats with multiple organ dysfunction syndrome (MODS) as a result of bacterial peritonitis, and the expression of c-kit (an ICC phenotype marker) and Bax/Bcl-2, in order to investigate the mechanism of gastrointestinal motility dysfunction in MODS. According to the random number table, 40 Wistar rats were randomly divided into two groups: control group (n=20) and MODS group (n=20). The MODS model in rats was reproduced by intraperitoneal injection of 8×10(8) cfu/mL Escherichia coli suspension 1 mL, and the control group was given the same amount of normal saline. After 24 hours, the upper small intestine was harvested for examination. Ultrastructure of ICC-DMP was observed using electron microscope. The network structure of ICC-DMP and the expression of c-kit and Bax/Bcl-2 were observed and determined with immunofluorescence and laser scanning confocal microscope. Macroscopic observation revealed that the gastrointestinal motility of rats was normal in the control group. Compared with the control group, gastro intestine was significantly expanded with parulytic ileus in MODS group. It was shown by transmission electron microscopy that intermediate filament structure of ICC-DMP was clear without swelling of mitochondria; chromatin distributed uniformly with small amounts of heterochromatin aggregated in perinuclear. Compared with the control group, intermediate filament structure of ICC-DMP was fuzzy, and mitochondria were swollen obviously in MODS group; chromatin was assembled in nucleus centre. It was shown by laser scanning confocal microscope that the network structure of ICC-DMP was clear, the expression of c-kit and Bcl-2 was strongly and overlapping; the expression of Bax was weak and scatter distributed. Compared with control group, ICC-DMP quantity in MODS group was significantly reduced (cells/HP: 15.80±2.30 vs. 25.70±3.97, t=6.819, P=0

  17. Multi-organic dysfunction syndrome caused by dengue 3 in children of Neiva Huila, Colombia

    International Nuclear Information System (INIS)

    Salgado, Doris; Vega, Martha R; Panqueva, Cesar A

    2006-01-01

    Dengue is the main arthropod -transmitted viral disease in the world with a growing number of cases in Neiva, Colombia. Clinical presentation of dengue hemorrhagic fever (DHF) is showing compromise of organs different from endothelium which could be associated to the circulating serotype and/or host immunological factors. Objective. To alert about the association of multiple organic dysfunction (MOD) and DHF. Results. MOD associated to DHF is described in three girls with an average of 16 months of age, two 7-month sold and 1 three year old. The evolution of fever at the beginning was 4 days; they had shock resistant to usual treatment with crystalloid and colloids with tachycardia,ventricular arrhythmia, increased CPK MB, AST and ALT,coagulopathy with prolonged PTT and PT but without severe thrombocytopenia, metabolic alteration with acidaemia and hypoglycemia in the three girls. Score for MOD was applied with an average of 23 and evidence of myocardial, hepatic and hematological major compromise. dengue 3 was showed by RT-PCR. Discussion. Similar reports are compared with these cases and probable pathophysiologic mechanisms are discussed. Conclusion. It has to be stressed that DHF might affect different organs, because of this definition of severity in dengue has to be reconsidered. An early thinking in different organs affected might help to introduce an opportune intervention or treatment.

  18. Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.

    Science.gov (United States)

    Ni, Christina; Zhang, Deming; Beyer, Lisa A; Halsey, Karin E; Fukui, Hideto; Raphael, Yehoash; Dolan, David F; Hornyak, Thomas J

    2013-01-01

    The human deafness-pigmentation syndromes, Waardenburg syndrome (WS) type 2a, and Tietz syndrome are characterized by profound deafness but only partial cutaneous pigmentary abnormalities. Both syndromes are caused by mutations in MITF. To illuminate differences between cutaneous and otic melanocytes in these syndromes, their development and survival in heterozygous Microphthalmia-White (Mitf(Mi-wh) /+) mice were studied and hearing function of these mice characterized. Mitf(Mi-wh) /+ mice have a profound hearing deficit, characterized by elevated auditory brainstem response thresholds, reduced distortion product otoacoustic emissions, absent endocochlear potential, loss of outer hair cells, and stria vascularis abnormalities. Mitf(Mi-wh) /+ embryos have fewer melanoblasts during embryonic development than their wild-type littermates. Although cochlear melanocytes are present at birth, they disappear from the Mitf(Mi-wh) /+ cochlea between P1 and P7. These findings may provide insight into the mechanism of melanocyte and hearing loss in human deafness-pigmentation syndromes such as WS and Tietz syndrome and illustrate differences between otic and follicular melanocytes. © 2012 John Wiley & Sons A/S.

  19. Increased Intestinal Inflammation and Digestive Dysfunction in Preterm Pigs with Severe Necrotizing Enterocolitis

    DEFF Research Database (Denmark)

    Støy, Ann Cathrine Findal; Heegaard, Peter M. H.; Skovgaard, Kerstin

    2017-01-01

    The risk factors for necrotizing enterocolitis (NEC) are well known, but the factors involved in the different NEC presentations remain unclear. We hypothesized that digestive dysfunction and intestinal inflammation are mainly affected by severe NEC lesions. In 48 preterm pigs, the association be...

  20. Alcoholic liver cirrhosis increases the risk of left ventricular diastolic dysfunction

    Czech Academy of Sciences Publication Activity Database

    Brotánek, J.; Ort, Michael; Kubánek, M.; Stiborová, M.

    2013-01-01

    Roč. 34, Suppl.2 (2013), s. 64-70 ISSN 0172-780X R&D Projects: GA MŠk(CZ) 1M0517 Institutional research plan: CEZ:AV0Z50110509 Keywords : left ventricular diastolic dysfunction * cirrhosis * liver * alcohol Subject RIV: FH - Neurology Impact factor: 0.935, year: 2013

  1. Occurrence of erectile dysfunction, testosterone deficiency syndrome and metabolic syndrome in patients with abdominal obesity. Where is a sufficient level of testosterone?

    Science.gov (United States)

    Fillo, Juraj; Breza, Jan; Levčíkova, Michaela; Luha, Jan; Vachulova, Anna; Durdík, Štefan; Labaš, Peter

    2012-08-01

    The aim of this study was to determine the prevalence of erectile dysfunction (ED), testosterone deficiency syndrome (TDS), and metabolic syndrome in patients with abdominal obesity (AO) and the prevalence of morbidity at different levels of testosterone (TST). Male sex hormones play an important role in ED and variety of TDS and may have influence on the development of metabolic syndrome. The number of men with AO which constitutes a serious health risk is continuously growing. Currently, there are different views that TST levels are already insufficient, and the patient should benefit from treatment. This study examined the association between ED, testosterone level and metabolic syndrome in men with AO. The study was carried out in an outpatient urology center of Urology Clinic and Obesity Center of the Clinic of Internal Medicine. There were 167 participants—men with AO which were examined as part of preventive examination. Hormonal, a complete urological and internal evaluation was carried out in every patient. We found some degree of ED in 73% (122/167) in men with AO. The TST levels below 14 nmol/l had of these 122 patients 84 patients (68.9%) and 49 patients (40.2%) below 10 nmol/l. In this group of patients, we found 103/167 patients (61.7%) with metabolic syndrome. When we compared TST level and morbidity, we found significantly more patients with diabetes mellitus (DM), hypertension and dyslipidemia in group with TST below 10 nmol/l. We also found difference in the levels of HDL cholesterol and triglycerides in the group of patients with TST 10–14 and over 14 nmol/l. Patients over 40 years of age with AO and ED should also be examined for TDS and metabolic syndrome. In this group of patients we found that 113/167 patients (67.6%) had total TST below 14 nmol/l, and sufficient level of TST seems to be above this level.

  2. Executive dysfunction in children affected by obstructive sleep apnea syndrome: an observational study

    Directory of Open Access Journals (Sweden)

    Esposito M

    2013-08-01

    Full Text Available Maria Esposito,1 Lorenzo Antinolfi,1 Beatrice Gallai,2 Lucia Parisi,3 Michele Roccella,3 Rosa Marotta,4 Serena Marianna Lavano,4 Giovanni Mazzotta,5 Francesco Precenzano,1 Marco Carotenuto1 1Sleep Clinic for Developmental Age, Clinic of Child and Adolescent Neuropsychiatry, Department of Mental and Physical Health and Preventive Medicine, Second University of Naples, Naples, Italy; 2Unit of Child and Adolescent Neuropsychiatry, University of Perugia, Perugia, Italy; 3Child Neuropsychiatry, Department of Psychology, University of Palermo, Palermo, Italy; 4Department of Psychiatry, Magna Graecia University of Catanzaro, Catanzaro, Italy; 5Unit of Child and Adolescent Neuropsychiatry, AUSL Umbria 2, Terni, Italy Introduction: The role of sleep in cognitive processes can be considered clear and well established. Different reports have disclosed the association between sleep and cognition in adults and in children, as well as the impact of disturbed sleep on various aspects of neuropsychological functioning and behavior in children and adolescents. Behavioral and cognitive dysfunctions can also be considered as related to alterations in the executive functions (EF system. In particular, the EF concept refers to self-regulatory cognitive processes that are associated with monitoring and controlling both thought and goal directed behaviors. The aim of the present study is to assess the impact of the obstructive sleep apnea syndrome (OSAS on EF in a large sample of school aged children. Materials and methods: The study population comprised 79 children (51 males and 28 females aged 7–12 years (mean 9.14 ± 2.36 years with OSAS and 92 healthy children (63 males and 29 females, mean age 9.08 ± 2.44 years. To identify the severity of OSAS, an overnight respiratory evaluation was performed. All subjects filled out the Italian version of the Modified Card Sorting Test to screen EFs. Moreover, to check the degree of subjective perceived daytime sleepiness

  3. Videourodynamic characteristics of interstitial cystitis/bladder pain syndrome-The role of bladder outlet dysfunction in the pathophysiology.

    Science.gov (United States)

    Kuo, Yuh-Chen; Kuo, Hann-Chorng

    2018-03-05

    To investigate the characteristics of videourodynamic study (VUDS) in females with interstitial cystitis/bladder pain syndrome (IC/BPS) focusing on the etiologies of bladder outlet dysfunction (BOD) and their associations with clinical and urodynamic parameters. IC/BPS females with complete data on symptom assessment, VUDS, the potassium sensitivity test, and cystoscopic hydrodistention were reviewed retrospectively. Diagnoses of bladder dysfunction (hypersensitive bladder, HSB) and BOD including dysfunctional voiding (DV), poor relaxation of the external urethral sphincter (PRES), and bladder neck dysfunction (BND) were made by VUDS. The clinical and urodynamic parameters between patients with normal and abnormal VUDS diagnoses were analyzed. A total of 348 IC/BPS female patients (mean age 48.8 ± 13.5) were enrolled. HSB was found in 307 (88.2%) patients and BOD in 209 (60.1%). The causes of BOD included DV in 40 (11.5%), PRES in 168 (48.3%), and BND in 1 (0.3%). Patients with DV and BND had higher, and those with PRES had lower detrusor pressures at maximum flow rate (Q max ) than those with normal tracings. For all BOD patients, univariate logistic regression revealed a significant positive correlation of disease duration and negative correlations of urodynamic volume parameters with BOD in IC/BPS patients. Multivariate logistic regression found a cut-off value of Q max  ≦ 11 mL/s predicted BOD in IC/BPS with a receiver operating characteristic area of 0.81 (sensitivity = 82.0%, specificity = 68.5%). HSB and BOD are common findings on VUDS in IC/BPS females. BOD is associated with duration and hypersensitive bladder. A Q max  ≦ 11 mL/s predicts BOD in IC/BPS. © 2018 Wiley Periodicals, Inc.

  4. Improved Spatial Ability Correlated with Left Hemisphere Dysfunction in Turner's Syndrome. Implications for Mechanism.

    Science.gov (United States)

    Rovet, Joanne F.

    This study contrasts the performance of a 17-year-old female subject with Turner's syndrome before and after developing left temporal lobe seizures, as a means of identifying the mechanism responsible for the Turner's syndrome spatial impairment. The results revealed a deficit in spatial processing before onset of the seizure disorder. Results…

  5. Gender Difference in the Epidemiological Association between Metabolic Syndrome and Olfactory Dysfunction: The Korea National Health and Nutrition Examination Survey.

    Directory of Open Access Journals (Sweden)

    Se-Hwan Hwang

    Full Text Available Metabolic syndrome (MetS is associated with a higher risk of morbidity and/or mortality for various chronic diseases. The aim of this study was to investigate the relationships of MetS and its components with olfactory dysfunction in a representative Korean population. We analyzed the data from the Korean National Health and Nutrition Examination Survey (2008-2010. A total of 11,609 adults who underwent otolaryngological examination were evaluated. The olfactory function was classified as normosmia or hyposmia by a self-report questionnaire according to the sense problems of smell during the past 3 months. MetS was diagnosed if a participant had at least three of the following: (1 WC ≥90 cm in men and ≥80 cm in women; (2 fasting blood sugar ≥ 100 mg/dL or medication use for elevated glucose; (3 fasting triglyceride ≥ 150 mg/dL or cholesterol-lowering medication use; (4 HDL-cholesterol <40 mg/dL in men and <50 mg/dL in women or cholesterol-lowering medication use; and (5 SBP ≥ 130 mmHg and/or DBP ≥ 85 mmHg or antihypertensive drug use for patients with a history of hypertension. The prevalence of olfactory dysfunction in the study population was 6.3%. The prevalence of olfactory dysfunction was significantly higher in older people with MetS than in those without MetS in both sexes (male, 42.0 ± 3.4% vs. 34.7 ± 0.9%, p = 0.0354; female, 46.2 ± 2.8% vs. 37.8 ± 0.8%, p = 0.0026. However, elevated waist circumference, elevated fasting glucose, elevated triglycerides, reduced HDL cholesterol, elevated blood pressure, severe stress, depressed mood, and suicidal ideation were significantly associated with olfactory dysfunction only in women. After controlling for confounders, olfactory dysfunction was significantly associated with MetS (odds ratio, 1.352; 95% confidence interval, 1.005-1.820 only in women. MetS are associated with olfactory dysfunction only in Korean women.

  6. Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice

    Science.gov (United States)

    Foote, Molly; Arque, Gloria; Berman, Robert F.; Santos, Mónica

    2016-01-01

    Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder that affects some carriers of the Fragile X premutation (PM). In PM carriers there is a moderate expansion of a CGG trinucleotide sequence (55-200 repeats) in the fragile X gene (FMR1) leading to increased FMR1 mRNA and small to moderate decreases in the Fragile X Mental Retardation Protein (FMRP) expression. The key symptoms of FXTAS include cerebellar gait ataxia, kinetic tremor, sensorimotor deficits, neuropsychiatric changes, and dementia. While the specific trigger(s) that cause PM carriers to progress to FXTAS pathogenesis remains elusive, the use of animal models has shed light on the underlying neurobiology of the altered pathways involved in disease development. In this review, we examine the current use of mouse models to study PM and FXTAS, focusing on recent advances in the field. Specifically we will discuss the construct, face and predictive validities of these PM mouse models, the insights into the underlying disease mechanisms and potential treatments. PMID:27255703

  7. Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice.

    Science.gov (United States)

    Foote, Molly; Arque, Gloria; Berman, Robert F; Santos, Mónica

    2016-10-01

    Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects some carriers of the fragile X premutation (PM). In PM carriers, there is a moderate expansion of a CGG trinucleotide sequence (55-200 repeats) in the fragile X gene (FMR1) leading to increased FMR1 mRNA and small to moderate decreases in the fragile X mental retardation protein (FMRP) expression. The key symptoms of FXTAS include cerebellar gait ataxia, kinetic tremor, sensorimotor deficits, neuropsychiatric changes, and dementia. While the specific trigger(s) that causes PM carriers to progress to FXTAS pathogenesis remains elusive, the use of animal models has shed light on the underlying neurobiology of the altered pathways involved in disease development. In this review, we examine the current use of mouse models to study PM and FXTAS, focusing on recent advances in the field. Specifically, we will discuss the construct, face, and predictive validities of these PM mouse models, the insights into the underlying disease mechanisms, and potential treatments.

  8. [Reproducing and evaluating a rabbit model of multiple organ dysfunction syndrome after cardiopulmonary resuscitation resulted from asphyxia].

    Science.gov (United States)

    Zhang, Dong; Li, Nan; Chen, Ying; Wang, Yu-shan

    2013-02-01

    To evaluate the reproduction of a model of post resuscitation multiple organ dysfunction syndrome (PR-MODS) after cardiac arrest (CA) in rabbit, in order to provide new methods for post-CA treatment. Thirty-five rabbits were randomly divided into three groups, the sham group (n=5), the 7-minute asphyxia group (n=15), and the 8-minute asphyxia group (n=15). The asphyxia CA model was reproduced with tracheal occlusion. After cardiopulmonary resuscitation (CPR), the ratio of recovery of spontaneous circulation (ROSC), the mortality at different time points and the incidence of systemic inflammatory response syndrome (SIRS) were observed in two asphyxia groups. Creatine kinase isoenzyme (CK-MB), alanine aminotransferase (ALT), creatinine (Cr), glucose (Glu) and arterial partial pressure of oxygen (PaO2) levels in blood were measured in the two asphyxia groups before CPR and 12, 24 and 48 hours after ROSC. The survived rabbits were euthanized at 48 hours after ROSC, and heart, brain, lung, kidney, liver, and intestine were harvested for pathological examination using light microscope. PR-MODS after CA was defined based on the function of main organs and their pathological changes. (1) The incidence of ROSC was 100.0% in 7-minute asphyxia group and 86.7% in 8-minute asphyxia group respectively (P>0.05). The 6-hour mortality in 8-minute asphyxia group was significantly higher than that in 7-minute asphyxia group (46.7% vs. 6.7%, P0.05). (2) There was a variety of organ dysfunctions in survived rabbits after ROSC, including chemosis, respiratory distress, hypotension, abdominal distension, weakened or disappearance of bowel peristalsis and oliguria. (3) There was no SIRS or associated changes in major organ function in the sham group. SIRS was observed at 12 - 24 hours after ROSC in the two asphyxia groups. CK-MB was increased significantly at 12 hours after ROSC compared with that before asphyxia (7-minute asphyxia group: 786.88±211.84 U/L vs. 468.20±149.45 U/L, 8

  9. Left ventricular dysfunction during exercise in patients with angina pectoris and angiographically normal coronary arteries (syndrome X)

    International Nuclear Information System (INIS)

    Taki, J.; Nakajima, K.; Muramori, A.; Yoshio, H.

    1994-01-01

    Left ventricular function during exercise and recovery was investigated in patients with angina pectoris, ST segment depression during exercise and angiographically normal coronary arteries (syndrome X) using a continuous left ventricular function monitor with cadmium telluride detector (CdTe-VEST). Fourteen patients with syndrome X and 14 patients with atypical chest pain without ST segment depression during exercise and normal coronary arteries (control group) performed supine ergometric exercise after administration of 740-925 MBq of technetium-99m labelled red blood cells, and left ventricular function was monitored every 20 s using CdTe-VEST. Left ventricular ejection fraction (EF) response was impaired (≤ 5% increase from rest to peak exercise) in 11 or 14 patients with syndrome X but in none of the control patients. Resting EF was similar in the two groups (62.1% ± 6.7% in patients with syndrome X, 61.9% ± 6.2% in controls); however, EF increase from rest to peak exercise was lower in syndrome X (-3.1 ± 9.5% vs 14.7% ± 7.4%). After cessation of exercise, all patients showed rapid EF increase over baseline and this EF overshoot was lower (19.3% ± 8.3% vs 26.4% ± 7.3%) with the time to EF overshoot longer (114 ± 43 s vs 74 ± 43 s, P < 0.05) in patients with syndrome X. (orig./MG)

  10. Prevalence and Significance of Unrecognized Renal Dysfunction in Patients with Acute Coronary Syndrome.

    Science.gov (United States)

    Rozenbaum, Zach; Leader, Avi; Neuman, Yoram; Shlezinger, Meital; Goldenberg, Ilan; Mosseri, Morris; Pereg, David

    2016-02-01

    Unrecognized renal insufficiency, defined as estimated glomerular filtration rate acute coronary syndrome. We aimed to determine the prevalence and clinical significance of unrecognized renal insufficiency in a large unselected population of patients with acute coronary syndrome. The study population consisted of patients with acute coronary syndrome included in the Acute Coronary Syndrome Israeli biennial Surveys during 2000-2013. The estimated glomerular filtration rate was calculated using the simplified Modification of Diet in Renal Disease formula. Patients were stratified into 3 groups: 1) normal renal function (estimated glomerular filtration rates ≥60 mL/min/1/73 m(2)); 2) unrecognized renal insufficiency (estimated glomerular filtration rates renal insufficiency (estimated glomerular filtration rates acute coronary syndrome patients. Unrecognized renal insufficiency was present in 2536 (19.8%). Patients with unrecognized renal insufficiency were older and more frequently females. All-cause mortality rates at 1 year were highest among patients with recognized renal insufficiency, followed by patients with unrecognized renal insufficiency, with the lowest mortality rates observed in patients with normal renal function (19.4%, 9.9%, and 3.3%, respectively, P renal insufficiency were less frequently referred for coronary angiography and were less commonly treated with guideline-based cardiovascular medications. Acute coronary syndrome patients with unrecognized renal insufficiency should be considered as a high-risk population. The question of whether this group would benefit from a more aggressive therapeutic approach should still be evaluated. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. History of preeclampsia is not associated with an increased risk of thyroid dysfunction

    NARCIS (Netherlands)

    Dekker, Ruth R.; Jochemsen, B.M.; van Pampus, M.G.; Santema, J.G.; Roozendaal, C.; Groen, H.; Links, T.P.; van Doormaal, J.J.

    Objective. We evaluated the thyroid function in women with a history of preeclampsia and/or HELLP syndrome at least 2 years after delivery. Design. Observational retrospective study. Setting. University Medical Center Groningen, The Netherlands. Population. Women with a history of preeclampsia

  12. Increased brain fatty acid uptake in metabolic syndrome

    DEFF Research Database (Denmark)

    Karmi, Anna; Iozzo, Patricia; Viljanen, Antti

    2010-01-01

    To test whether brain fatty acid uptake is enhanced in obese subjects with metabolic syndrome (MS) and whether weight reduction modifies it.......To test whether brain fatty acid uptake is enhanced in obese subjects with metabolic syndrome (MS) and whether weight reduction modifies it....

  13. [Does an association between increased homocystein levels and cognitive dysfunction also exist in multimorbid geriatric patients].

    Science.gov (United States)

    Hengstermann, S; Hanemann, A; Nieczaj, R; Abdollahnia, N; Schweter, A; Steinhagen-Thiessen, E; Lun, A; Lämmler, G; Schulz, R-J

    2009-04-01

    Total blood homocysteine (Hcys) and folate have been investigated in association with cognitive dysfunction (CD) in healthy but not in multimorbid elderly patients. We hypothesized that total Hcys and folate are adequate markers to identify multimorbid elderly patients with CD. According to the Short Performance Cognitive Test (SKT) CD was determined in a cross-sectional study with 189 (131 f/58 m) multimorbid elderly patients with a mean age of 78.6 +/- 7.3 yrs. Besides the analyses of biochemical parameters (Hcys, folate, vitamin B(12), hemogram) nutritional status (BMI, Mini Nutritional Assessment) as well as activities of daily living were assessed. Daily nutritional intake was measured with a 3-day nutrition diary. For analysis, we used the nutritional software program DGE-PC professional. According to SKT 25.4% showed no cerebral cognitive dysfunction, 21.2% had a suspicion about incipient cognitive dysfunction, 12.7% showed mild, 9.0% moderate, 31.7% of patients severe cognitive deficits. Median plasma Hcys was about 20% elevated in multimorbid elderly patients independent of CD. Serum folate and vitamin B(12) levels were within range, though dietary folate intake (97 [80-128] microg/d) was reduced about 75% (recommendation 400 microg/d). Significant correlations between vitamin intake and plasma/serum levels of Hcys, folate and vitamin B(12) were not present. We did not find significant differences between SKT groups of nutritional status, activities of daily living, index of diseases, medications, or selected biochemical parameters. We analysed elevated serum Hcys levels in multimorbid elderly patients with normal plasma folate and vitamin B(12) concentration and CD. Plasma Hcys or serum folate did not appear as an important biological risk factor on CD in multimorbid elderly patients.

  14. [Indication of metformin in the management of hormonal dysfunction secondary to polycystic ovarian syndrome: prospective comparative study of 63 cases].

    Science.gov (United States)

    Boudhrâa, Khaled; Jellouli, Mohamed Amine; Amri, Mouna; Farhat, Monia; Torkhani, Fatma; Gara, Mohamed Faouzi

    2010-05-01

    Polycystic ovarian syndrome (PCOS) is the most common hormonal dysfunction in women. It's a cause of female infertility by oligoanovulation, clinical and biochemical hyperandrogenism and polycystic ovaries. Weight loss, firstly proposed in overweight or obese patient suffering from PCOS, aims to reduce hyperinsulinism and hyperandrogenism. Recently, Metformin, an insulin sensitizer, has been proposed as an alternative first line treatment for polycystic ovarian syndrome by improving hyperinsulinemia and hyperandrogenism in these women. The aim of our study, and through a literature review, is to demonstrate if Metformin should be used as a first-line drug for infertile women with this syndrome or as an adjunction to Clomifene Citrate, the longest established treatment already used in this syndrome. A prospective comparative study including 63 patients with PCOS has been done during 2 years. Women were randomly allocated to clomifene + Metformin (Metformin group, Metformin took during 8 weeks, 850 mg twice a day, plus Clomifene 100 mg per day during five days) or Clomifene only (100 mg per day during five days). All patients underwent a two- month's diet. The middle age was about 30.63 years and the body mass index (BMI) was about 29.88 kg/ m(2). We noticed a 6.2% weight loss in both groups (a non significant difference in p=0.04). The median of infertility period was about 2.49 years. The ovulation rate in the Metformin group was 53.12% (significant difference for inducing ovulation p=0.02) and 32.25% in Clomifene group (non-significant difference 0.07). There was also a significant difference for ongoing pregnancies (p=0.04). In fact, 11 on 32 patients (34%) achieved a full-term pregnancy in Metformin group versus only 4 ones on 31 patients (12.9%) in Clomifene group. Our conclusion is that Metformin is an effective addition to Clomifene Citrate in term of reestablishment of ovulation and full-term pregnancies achievement, excluding ART cycles.

  15. Development of a symptoms questionnaire for complex regional pain syndrome and potentially related illnesses: the Trauma Related Neuronal Dysfunction Symptoms Inventory

    NARCIS (Netherlands)

    Collins, S.; van Hilten, J.J.; Marinus, J.J.; Zuurmond, W.W.A.; de Lange, J.J.; Perez, R.S.G.M.

    2008-01-01

    Collins S, van Hilten JJ, Marinus J, Zuurmond WW, de Lange JJ, Perez RS. Development of a symptoms questionnaire for complex regional pain syndrome and potentially related illnesses: the Trauma Related Neuronal Dysfunction Symptoms Inventory. Objective: To develop a questionnaire to evaluate

  16. Is the incidence of temporomandibular disorder increased in polycystic ovary syndrome?

    Science.gov (United States)

    Soydan, Sidika Sinem; Deniz, Kagan; Uckan, Sina; Unal, Aslı Dogruk; Tutuncu, Neslihan Bascıl

    2014-11-01

    The prevalence of temporomandibular disorders is higher among women than men (ratio 3:1 -9:1). Polycystic ovary syndrome(PCOS) is the most common endocrine disorder in women, which is characterised by chronic low-grade inflammation and excess of androgenic hormones that lead to metabolic aberrations and ovarian dysfunction. Increased activities of various matrix metalloproteinases (particularly MMP-2 and 9) in the serum of these patients has been reported, and it has been hypothesised that high activities of MMP may contribute to loss of matrix and chronic inflammation of the fibrocartilage in temporomandibular disorders. Our aim was to evaluate the incidence of temopormandibular dysfunction in women with PCOS compared with an age-matched, disease-free, control group. We studied 50 patients with previously diagnosed PCOS and 50 volunteers who had normal menstrual cycles. We made a comprehensive clinical examination of the temporomandibular joint (TMJ) and muscles of mastication in both groups and recorded the Visual Analogue Scores (VAS) for pain. There were significant differences (ptemporomandibular disorders (n=43 (86%) in the PCOS group compared with n=12 24% in the control group), muscle tenderness(n=32 (64%) in the PCOS group compared with n=14 (28%) in the control group) and pain in the TMJ (mean (SD) VAS 2.9 (2.61) compared with 0.3 (1.56). We confirm the higher incidence and severity of disorders of the TMJ in patients with PCOS and suspect that chronic low-grade inflammation may play a part in the aetiology of the disease. Copyright © 2014 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  17. Increased Rho-kinase expression and activity and pulmonary endothelial dysfunction in smokers with normal lung function.

    Science.gov (United States)

    Duong-Quy, S; Dao, P; Hua-Huy, T; Guilluy, C; Pacaud, P; Dinh-Xuan, A T

    2011-02-01

    Endothelial dysfunction is one of the main consequences of the toxic effects of cigarette smoke on the vascular system. Increasing evidence suggests that the small G-protein RhoA and its downstream effectors, the Rho-kinases (ROCKs), are involved in systemic endothelial dysfunction induced by cigarette smoke. This study aimed to evaluate the role of the RhoA/ROCKs pathway in pulmonary artery endothelial function in current smokers with normal lung function. Lung tissues were obtained from nonsmokers and smokers who underwent lobectomy for lung carcinoma. Arterial relaxation in response to acetylcholine (ACh) was assessed in isolated pulmonary arterial rings. Protein expressions and activities of endothelial nitric oxide synthase (eNOS), ROCKs and the myosin phosphatase subunit 1 (MYPT-1) were sought. Relaxation in response to ACh was significantly lower in smokers as compared with nonsmokers (n = 8 in each group), consistent with reduced eNOS activity in the former compared with the latter. eNOS protein expression remained, however, the same in both groups. Expression of ROCKs, guanosine triphosphate-RhoA and phosphorylated MYPT-1 were significantly increased in smokers compared with controls. Pulmonary endothelial dysfunction is present in smokers whose lung function has not yet been impaired. Reduced activity of eNOS accounts at least in part for this endothelial dysfunction. Increased expression and activity of ROCKs accounts for another part through direct or indirect inhibition of the Rho-A/ROCKs pathway on nitric oxide synthesis and sustained pulmonary vasoconstriction through inhibition of myosin phosphatase.

  18. Retroviral sequences related to human T-lymphotropic virus type II in patients with chronic fatigue immune dysfunction syndrome

    International Nuclear Information System (INIS)

    DeFreitas, E.; Hilliard, B.; Cheney, P.R.; Bell, D.S.; Kiggundu, E.; Sankey, D.; Wroblewska, Z.; Palladino, M.; Woodward, J.P.; Koprowski, H.

    1991-01-01

    Chronic fatigue immune dysfunction syndrome (CFIDS) is a recently recognized illness characterized by debilitating fatigue as well as immunological and neurological abnormalities. Once thought to be caused by Epstein-Barr virus, it is now thought to have a different but unknown etiology. The authors evaluted 30 adult and pediatric CFIDS patients from six eastern states for the presence of human T-lymphotropic virus (HTLV) types I and II by Western immunoblotting, polymerase chain reaction, and in situ hybridization of blood samples. The majority of patients were positive for HTLV antibodies by Western blotting and for HTLV-II gag sequences by polymerase chain reaction and in situ hybridization. Twenty nonexposure healthy controls were negative in all assays. These data support an association between an HTLV-II-like virus and CFIDS

  19. Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome.

    Science.gov (United States)

    Jezela-Stanek, Aleksandra; Dobrzańska, Anna; Maksym-Gasiorek, Dorota; Trzeciakowski, Wojciech; Gutkowska, Anna; Olczak-Kowalczyk, Dorota; Gajdulewicz, Maria; Spodar, Krystyna; Czech-Kowalska, Justyna; Krajewska-Walasek, Małgorzata

    2009-01-01

    We describe the clinical characteristics of two patients with cat-eye syndrome (CES, MIM #115470) resulting from a supernumerary marker chromosome that includes 22pter-q12.3. They both presented a constellation of features typical of CES, including coloboma, auricular malformations, heart and renal anomalies, as well as hepatic dysfunction, which led to severe effects. In one case Pierre Robin sequence was diagnosed which has not been described earlier in this trisomy. Although CES is a well known, but infrequently diagnosed disorder, we draw attention both to its clinical overlaps with other disorders and, in view of the clinical variability being identified within the 22q11 region, to the importance of careful molecular examination of proximal 22q in patients with suggestive clinical signs.

  20. Multiple organ dysfunction syndrome, an unusual complication of heroin intoxication: a case report and review of literature.

    Science.gov (United States)

    Feng, Gang; Luo, Qiancheng; Guo, Enwei; Yao, Yulan; Yang, Feng; Zhang, Bingyu; Li, Longxuan

    2015-01-01

    Multiple organ dysfunction syndrome (MODS) has rarely been described in patients with heroin intoxication. Here, we report a rare case of MODS involving six organs, due to heroin intoxication. The patient was a 32-year-old Chinese man with severe heroin intoxication complicated by acute pulmonary edema and respiratory insufficiency, shock, myocardial damage and cardiac insufficiency, rhabdomyolysis and acute renal insufficiency, acute liver injury and hepatic insufficiency, toxic leukoencephalopathy, and hypoglycemia. He managed to survive and was discharged after 10 weeks of intensive care. The possible pathogenesis and therapeutic measures of MODS induced by heroin intoxication and some suggestions for preventing and treating severe complications of heroin intoxication, based on clinical evidence and the pertinent literature, are discussed in this report.

  1. Clinical effects of pulse high-volume hemofiltration on severe acute pancreatitis complicated with multiple organ dysfunction syndrome.

    Science.gov (United States)

    Chu, La-Ping; Zhou, Jun-Jing; Yu, Ya-Fen; Huang, Yang; Dong, Wen-Xia

    2013-02-01

    To evaluate the effects of pulse high-volume hemofiltration (PHVHF) on severe acute pancreatitis (SAP) with multiple organ dysfunction syndrome (MODS). Thirty patients were divided into two groups: PHVHF group and continuous venovenous hemofiltration (CVVH) group. They were evaluated in terms of clinical symptoms, acute physiology and chronic health evaluation (APACHE) II score, sequential organ failure assessment (SOFA) score, simplified acute physiology (SAPS) II score and biochemical changes. The levels of IL-6, IL-10 and TNF-α in plasma were assessed by ELISA before and after treatment. The doses of dopamine used in shock patients were also analyzed. In the two groups, symptoms were markedly improved after treatment. Body temperature (BT), breath rate (BR), heart rate (HR), APACHE II score, SOFA score, SAPS II score, serum amylase, white blood cell count and C-reactive protein were decreased after hemofiltration (P treatment of SAP with MODS. © 2012 The Authors. Therapeutic Apheresis and Dialysis © 2012 International Society for Apheresis.

  2. [Chaotic dynamic process of multiple organs dysfunction syndrome and the regulatory function of shenqin liquid on it].

    Science.gov (United States)

    Liang, Jun-Xiong; Weng, Shu-He; Chen, Jing-He

    2008-07-01

    To explore the chaotic dynamic process of multiple organs dysfunction syndrome (MODS) and the regulatory effect of Shenqin Liquid (SQL), a Chinese herbal liquid preparation with the action of purging and qi-tonifying. Eighty SD rats were divided into 4 groups, and were given suspension of zymosan A and paraffine (1 mL/kg) by peritoneal injection except for those in the blank control group to set up the multiple organs dysfunction syndrome (MODS) model. Low and high doses SQL were administered twice at the doses of 30 and 60 g/kg of SQL respectively at an interval of 8 h per day before modeling. Serum concentration of tumor necrosis factor alpha (TNF-alpha) and nitric oxide (NO) in MODS model animals were tested diachronically, eg. 12, 6 h before modeling, during modeling, 6 and 12 h after modeling, and then the mathematic models were built up with compartment analysis. Lyapunov exponents (LE) of the mathematic models were calculated to evaluate their chaotic characteristics of movement and the degree of chaos was ascertained with the correlation dimension (CD). The serum levels of TNF-alpha and NO were significantly higher than those in the bland control group at modeling, 6, and 12 h after modeling (P SQL were significantly lower than the model group (P SQL was significantly lower than that in the low dose group (P 0 respectively; in the low dose and high dose SQL treated groups, CD was 0.517 and 0.653 respectively and LE >0. CD of NO movement in the blank control group was 0.670 and with LE 0; in the low dose SQL group, 0.574 and in the high dose SQL group 0.850, and LE SQL can intervene the movement of TNF-alpha and NO, decrease the complexity of their chaotic movement, and make them return back to a stable state.

  3. Aberrant lymphatic development in euploid fetuses with increased nuchal translucency including Noonan syndrome.

    NARCIS (Netherlands)

    Mooij, Y.M. de; Akker, N.M. van den; Bekker, M.N.; Bartelings, M.M.; Vugt, J.M.G. van; Gittenberger-de Groot, A.C.

    2011-01-01

    OBJECTIVE: Increased nuchal translucency in the human fetus is associated with aneuploidy, structural malformations and several syndromes such as Noonan syndrome. In 60-70% of the Noonan syndrome cases, a gene mutation can be demonstrated. Previous research showed that aneuploid fetuses with

  4. Dysfunctional oleoylethanolamide signaling in a mouse model of Prader-Willi syndrome.

    Science.gov (United States)

    Igarashi, Miki; Narayanaswami, Vidya; Kimonis, Virginia; Galassetti, Pietro M; Oveisi, Fariba; Jung, Kwang-Mook; Piomelli, Daniele

    2017-03-01

    Prader-Willi syndrome (PWS), the leading genetic cause of obesity, is characterized by a striking hyperphagic behavior that can lead to obesity, type-2 diabetes, cardiovascular disease and death. The molecular mechanism underlying impaired satiety in PWS is unknown. Oleoylethanolamide (OEA) is a lipid mediator involved in the control of feeding, body weight and energy metabolism. OEA produced by small-intestinal enterocytes during dietary fat digestion activates type-α peroxisome proliferator-activated receptors (PPAR-α) to trigger an afferent signal that causes satiety. Emerging evidence from genetic and human laboratory studies suggests that deficits in OEA-mediated signaling might be implicated in human obesity. In the present study, we investigated whether OEA contributes to feeding dysregulation in Magel2 m+/p- (Magel2 KO) mice, an animal model of PWS. Fasted/refed male Magel2 KO mice eat more than do their wild-type littermates and become overweight with age. Meal pattern analyses show that hyperphagia in Magel2 KO is due to increased meal size and meal duration rather than to lengthening of the intermeal interval, which is suggestive of a defect in mechanisms underlying satiation. Food-dependent OEA accumulation in jejunum and fasting OEA levels in plasma are significantly greater in Magel2 KO mice than in wild-type controls. Together, these findings indicate that deletion of the Magel2 gene is accompanied by marked changes in OEA signaling. Importantly, intraperitoneal administration of OEA (10mg/kg) significantly reduces food intake in fasted/refed Magel2 KO mice, pointing to a possible use of this natural compound to control hunger in PWS. Copyright © 2016. Published by Elsevier Ltd.

  5. Chronic fatigue and immune dysfunction syndrome associated with Staphylococcus spp. bacteraemia responsive to thiacetarsamide sodium in eight birds of prey.

    Science.gov (United States)

    Tarello, W

    2001-05-01

    Chronic fatigue and immune dysfunction syndrome (CFIDS) is a recognized human illness with zoonotic implications that is rarely described in animals. Eight birds of prey examined between 1992 and 1995 and sharing common symptoms (asthenia, inability to fly, poor appetite and emaciation) underwent laboratory tests revealing immunodeficiency, anaemia, high creatine kinase levels and low serum magnesium levels. Diagnosis of CFIDS was based upon these features. The effectiveness of an arsenic-based medication, thiacetarsamide sodium, administered intravenously for 2-3 days at low dosages (0.1 ml/kg/day) has been demonstrated by checks carried out 10, 20 and 30 days after therapy. The symptoms and the immune and haematological dysfunctions disappeared within 2-4 weeks of treatment. In all patients, micrococcus-like organisms found adhering to the outer surface of many red blood cells, had disappeared at post-treatment controls. Two of five blood cultures were positive for Staphylococcus spp. (S. intermedius and S. xilosus). Consideration is given to the pharmacological activity of an arsenic-based drug in animal illnesses resembling CFIDS.

  6. Dysfunction of Lacrimal and Salivary Glands in Sjögren's Syndrome: Nonimmunologic Injury in Preinflammatory Phase and Mouse Model

    Directory of Open Access Journals (Sweden)

    Toshiharu Hayashi

    2011-01-01

    Full Text Available Sjögren's syndrome (SjS is a chronic autoimmune disorder characterized by dry eyes and dry mouth due to dacryoadenitis and sialoadenitis with SS-A/Ro and/or SS-B/La autoantibodies in genetically predisposed individuals. Destruction of lacrimal and salivary glands by autoimmune reactions may lead to clinical manifestation. However, the mechanisms behind the decreased volume of secretions in tears and saliva are complex and are not fully understood. Exocrine gland dysfunction may precede autoimmunity (acquired immunity or represent a process independent from inflammation in the pathogenesis of SjS. The preceded functional and morphologic changes of those tissues by nonimmunologic injury before the development of inflammation at the sites of target organs have been implicated. This paper focuses on the several factors and components relating to glandular dysfunction and morphologic changes by nonimmunologic injury during the preinflammatory phase in mouse model, including the factors which link between innate immunity and adaptive immunity.

  7. Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.

    Science.gov (United States)

    Tardieu, Marc; Lacroix, Catherine; Neven, Bénédicte; Bordigoni, Pierre; de Saint Basile, Geneviève; Blanche, Stéphane; Fischer, Alain

    2005-07-01

    Three patients with Chediak-Higashi syndrome underwent allogeneic bone marrow transplantation between the ages of 2 years 9 months and 7 years. The outcome was uneventful, with sustained mixed chimerism. No subsequent recurrent infections or hemophagocytic syndrome were observed. At the age of 22 to 24 years, these 3 patients developed a neurologic deficit combining difficulty walking, loss of balance, and tremor. Neurologic evaluation demonstrated cerebellar ataxia and signs of peripheral neuropathy. Moderate axon loss and rarefaction of large myelinated fibers were observed on semithin sections of peripheral nerve. Cerebellar atrophy was detected by cerebral magnetic resonance imaging in 2 patients. We also reviewed the very long-term outcome of the other 11 patients with Chediak-Higashi syndrome who had received bone marrow transplants at our center since 1981. All displayed neurologic deficits or low cognitive abilities.

  8. Bladder Dysfunction and Vesicoureteral Reflux

    Directory of Open Access Journals (Sweden)

    Ulla Sillén

    2008-01-01

    Full Text Available In this overview the influence of functional bladder disturbances and of its treatment on the resolution of vesicoureteral reflux (VUR in children is discussed. Historically both bladder dysfunction entities, the overactive bladder (OAB and the dysfunctional voiding (DV, have been described in conjunction with VUR. Treatment of the dysfunction was also considered to influence spontaneous resolution in a positive way. During the last decades, however, papers have been published which could not support these results. Regarding the OAB, a prospective study with treatment of the bladder overactivity with anticholinergics, did not influence spontaneous resolution rate in children with a dysfunction including also the voiding phase, DV and DES (dysfunctional elimination syndrome, most studies indicate a negative influence on the resolution rate of VUR in children, both before and after the age for bladder control, both with and without treatment. However, a couple of uncontrolled studies indicate that there is a high short-term resolution rate after treatment with flow biofeedback. It should be emphasized that the voiding phase dysfunctions (DV and DES are more severe than the genuine filling phase dysfunction (OAB, with an increased frequency of UTI and renal damage in the former groups. To be able to answer the question if treatment of bladder dysfunction influence the resolution rate of VUR in children, randomized controlled studies must be performed.

  9. Concealed paracetamol overdose treated as HELLP syndrome in the presence of postpartum liver dysfunction.

    Science.gov (United States)

    Mills, A T; Davidson, M E; Young, P

    2014-05-01

    Paracetamol is the most frequently used analgesic during pregnancy and the most common drug involved in suicidal overdose in the UK. Manifestation of toxicity classically occurs over four phases with clinical and laboratory features resembling HELLP (haemolysis, elevated liver enzymes, low platelets) syndrome. We report a case that was erroneously managed as HELLP syndrome before a paracetamol overdose was diagnosed. This case highlights current practice in managing paracetamol overdose and focuses on the importance of addressing mental health issues to mitigate the risk of self-harm in pregnancy. Copyright © 2014 Elsevier Ltd. All rights reserved.

  10. Bowel Dysfunction

    Science.gov (United States)

    ... to PCF? Featured Fundraise for PCF: Many vs Cancer Contact Us Bowel Dysfunction The broad term of bowel dysfunction includes ... immodium) can be used to help with loose bowel movements. Increasing fiber intake through whole grains, ... mission 82% Join the fight against prostate ...

  11. PSYCHOSOCIAL DYSFUNCTION IN THE FIRST YEAR AFTER GUILLAIN-BARRE SYNDROME

    NARCIS (Netherlands)

    Bernsen, Robert A. J. A. M.; de Jager, Aeiko E. J.; Kuijer, Wietske; van der Meche, Frans G. A.; Suurmeijer, Theo P. B. M.

    In this investigation we study the impact of Guillain Barre syndrome (GBS) on psychological distress, depressive symptoms, and health status of patients during the first year after GBS. At 3, 6, and 12 months, patients were given the General Health Questionnaire, the Sickness Impact Profile, and the

  12. Metabolic Syndrome, Insulin Resistance and Cognitive Dysfunction: Does your metabolic profile affect your brain?

    DEFF Research Database (Denmark)

    Neergaard, Jesper S; Møller, Katrine Dragsbæk; Christiansen, Claus

    2017-01-01

    Dementia and type 2 diabetes are both characterized by long prodromal phases challenging the study of potential risk factors and their temporal relation. The progressive relation between metabolic syndrome, insulin resistance, and dementia has recently been questioned, wherefore the aim...... to be preventable by effective prevention and control of the insulin homeostasis....

  13. Ocular Motor Indicators of Executive Dysfunction in Fragile X and Turner Syndromes

    Science.gov (United States)

    Lasker, Adrian G.; Mazzocco, Michele M. M.; Zee, David S.

    2007-01-01

    Fragile X and Turner syndromes are two X-chromosome-related disorders associated with executive function and visual spatial deficits. In the present study, we used ocular motor paradigms to examine evidence that disruption to different neurological pathways underlies these deficits. We tested 17 females with fragile X, 19 females with Turner…

  14. Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling.

    Science.gov (United States)

    LeBlanc, Shannon K; Taranath, Deepa; Morris, Scott; Barnett, Christopher P

    2014-02-01

    Colobomata are etiologically heterogeneous and may occur as an isolated defect or as a feature of a variety of single-gene disorders, chromosomal syndromes, or malformation syndromes. Although not classically associated with Marfan syndrome, colobomata have been described in several reports of Marfan syndrome, typically involving the lens and rarely involving other ocular structures. While colobomata of the lens have been described in Marfan syndrome, there are very few reports of coloboma involving other ocular structures. We report a newborn boy presenting with coloboma of the iris, lens, retina, and optic disk who was subsequently diagnosed with Marfan syndrome. Marfan syndrome is a disorder of increased TGFβ signaling, and recent work in the mouse model suggests a role for TGFβ signaling in eye development and coloboma formation, suggesting a causal association between Marfan syndrome and coloboma. Crown Copyright © 2014. Published by Mosby, Inc. All rights reserved.

  15. Measures of subclinical cardiac dysfunction and increased filling pressures associate with pulmonary arterial pressure in the general population : Results from the population-based Rotterdam Study

    NARCIS (Netherlands)

    Billar, R.J. (Ryan J.); M.J.G. Leening (Maarten); D. Merkus (Daphne); G.G. Brusselle (Guy); A. Hofman (Albert); B.H.Ch. Stricker (Bruno); H.A. Ghofrani; O.H. Franco (Oscar); H. Gall (Henning); J.F. Felix (Janine)

    2017-01-01

    textabstractPulmonary hypertension is associated with increased mortality and morbidity in the elderly population. Heart failure is a common cause of pulmonary hypertension. Yet, the relation between left heart parameters reflective of subclinical cardiac dysfunction and increased filling pressures,

  16. 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

  17. Irbesartan increased PPARγ activity in vivo in white adipose tissue of atherosclerotic mice and improved adipose tissue dysfunction

    International Nuclear Information System (INIS)

    Iwai, Masaru; Kanno, Harumi; Senba, Izumi; Nakaoka, Hirotomo; Moritani, Tomozo; Horiuchi, Masatsugu

    2011-01-01

    Research highlights: → Atherosclerotic apolipoprotein E-deficient (ApoEKO) mice were treated with irbesartan. → Irbesartan decreased white adipose tissue weight without affecting body weight. → DNA-binding for PPARγ was increased in white adipose tissue in vivo by irbesartan. → Irbesartan increased adipocyte number in white adipose tissue. → Irbesatan increased the expression of adiponectin and leptin in white adipose tissue. -- Abstract: The effect of the PPARγ agonistic action of an AT 1 receptor blocker, irbesartan, on adipose tissue dysfunction was explored using atherosclerotic model mice. Adult male apolipoprotein E-deficient (ApoEKO) mice at 9 weeks of age were treated with a high-cholesterol diet (HCD) with or without irbesartan at a dose of 50 mg/kg/day for 4 weeks. The weight of epididymal and retroperitoneal adipose tissue was decreased by irbesartan without changing food intake or body weight. Treatment with irbesartan increased the expression of PPARγ in white adipose tissue and the DNA-binding activity of PPARγ in nuclear extract prepared from adipose tissue. The expression of adiponectin, leptin and insulin receptor was also increased by irbesartan. These results suggest that irbesartan induced activation of PPARγ and improved adipose tissue dysfunction including insulin resistance.

  18. Language deficits as a possible symptom of right hemisphere dysfunctions in Asperger’s syndrome

    OpenAIRE

    Anita Bryńska

    2010-01-01

    Qualitative communication disorders belong to the key symptoms of pervasive developmental disorders (PDD). The severity of the symptoms of communication disorders varies depending on the type of PDD, from the lack of functional speech to overdeveloped verbal competencies measured by standardized scales. In Asperger’s syndrome (AS), observed language abnormalities include: pragmatics (application of language in social context), semantics (identifying different meanings of the same ...

  19. Increased overall cortical connectivity with syndrome specific local decreases suggested by atypical sleep-EEG synchronization in Williams syndrome.

    Science.gov (United States)

    Gombos, Ferenc; Bódizs, Róbert; Kovács, Ilona

    2017-07-21

    Williams syndrome (7q11.23 microdeletion) is characterized by specific alterations in neurocognitive architecture and functioning, as well as disordered sleep. Here we analyze the region, sleep state and frequency-specific EEG synchronization of whole night sleep recordings of 21 Williams syndrome and 21 typically developing age- and gender-matched subjects by calculating weighted phase lag indexes. We found broadband increases in inter- and intrahemispheric neural connectivity for both NREM and REM sleep EEG of Williams syndrome subjects. These effects consisted of increased theta, high sigma, and beta/low gamma synchronization, whereas alpha synchronization was characterized by a peculiar Williams syndrome-specific decrease during NREM states (intra- and interhemispheric centro-temporal) and REM phases of sleep (occipital intra-area synchronization). We also found a decrease in short range, occipital connectivity of NREM sleep EEG theta activity. The striking increased overall synchronization of sleep EEG in Williams syndrome subjects is consistent with the recently reported increase in synaptic and dendritic density in stem-cell based Williams syndrome models, whereas decreased alpha and occipital connectivity might reflect and underpin the altered microarchitecture of primary visual cortex and disordered visuospatial functioning of Williams syndrome subjects.

  20. Mitochondrial dysfunction increases oxidative stress and decreases chronological life span in fission yeast.

    Directory of Open Access Journals (Sweden)

    Alice Zuin

    Full Text Available BACKGROUND: Oxidative stress is a probable cause of aging and associated diseases. Reactive oxygen species (ROS originate mainly from endogenous sources, namely the mitochondria. METHODOLOGY/PRINCIPAL FINDINGS: We analyzed the effect of aerobic metabolism on oxidative damage in Schizosaccharomyces pombe by global mapping of those genes that are required for growth on both respiratory-proficient media and hydrogen-peroxide-containing fermentable media. Out of a collection of approximately 2700 haploid yeast deletion mutants, 51 were sensitive to both conditions and 19 of these were related to mitochondrial function. Twelve deletion mutants lacked components of the electron transport chain. The growth defects of these mutants can be alleviated by the addition of antioxidants, which points to intrinsic oxidative stress as the origin of the phenotypes observed. These respiration-deficient mutants display elevated steady-state levels of ROS, probably due to enhanced electron leakage from their defective transport chains, which compromises the viability of chronologically-aged cells. CONCLUSION/SIGNIFICANCE: Individual mitochondrial dysfunctions have often been described as the cause of diseases or aging, and our global characterization emphasizes the primacy of oxidative stress in the etiology of such processes.

  1. Diabetic cognitive dysfunction is associated with increased bile acids in liver and activation of bile acid signaling in intestine.

    Science.gov (United States)

    Wang, Xue; Wang, Fangyu; Zhang, Yidan; Xiong, Hui; Zhang, Yanjun; Zhuang, Pengwei; Zhang, Youcai

    2018-05-01

    Impaired regulation of bile acid (BA) homeostasis has been suggested to be associated with adverse metabolic consequences. However, whether BA homeostasis is altered in diabetes-induced cognitive dysfunction (DCD) remains unknown. In the present study, mice were divided into four groups, namely normal control (NC) group, high-fat diet (HFD) group, diabetes without cognitive dysfunction (unDCD) group, and DCD group. Compared to HFD mice, the concentration of total BAs in liver was higher in unDCD and DCD mice, due to increased intestinal BA absorption. DCD mice tended to have higher BA concentrations in both liver and ileum than unDCD mice. Consequently, DCD mice had increased basolateral BA efflux (Ostα, Ostβ, and Mrp4) and decreased BA synthesis (Cyp7a1, Cyp8b1, and Cyp7b1) in the liver as well as activated Fxr-Fgf15 signaling in the ileum. DCD mice also had increased BA hydroxylation (Cyp3a11) and BA sulfation (Sult2a1) in the liver compared to HFD mice. Furthermore, the bacterial community composition was altered in the cecum of DCD mice, characterized with a marked increase in Defferribacteres and Candidatus Saccharibacteria. In summary, the present study provides the first comprehensive analysis of BA homeostasis in DCD mice, and revealed a potential role of BAs in DCD development. Copyright © 2018 Elsevier B.V. All rights reserved.

  2. Gender-specific increase in susceptibility to metabolic syndrome of offspring rats after prenatal caffeine exposure with post-weaning high-fat diet

    Energy Technology Data Exchange (ETDEWEB)

    Li, Jing [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Luo, Hanwen [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University, Wuhan 430071 (China); Wu, Yimeng; He, Zheng; Zhang, Li; Guo, Yu [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Ma, Lu [Department of Epidemiology & Health Statistics, Public Health School of Wuhan University, Wuhan 430071 (China); Magdalou, Jacques [UMR 7561 CNRS-NancyUniversité, Faculté de Médicine, Vandoeuvre-lès-Nancy (France); Chen, Liaobin [Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University, Wuhan 430071 (China); Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan 430071 (China); Wang, Hui, E-mail: wanghui19@whu.edu.cn [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan 430071 (China)

    2015-05-01

    Prenatal caffeine exposure (PCE) alters the hypothalamic–pituitary–adrenocortical (HPA) axis-associated neuroendocrine metabolic programming and induces an increased susceptibility to metabolic syndrome (MS) in intrauterine growth retardation (IUGR) offspring rats. High-fat diet (HFD) is one of the main environmental factors accounting for the incidence of MS. In this study, we aimed to clarify the gender-specific increase in susceptibility to MS in offspring rats after PCE with post-weaning HFD. Maternal Wistar rats were administered with caffeine (120 mg/kg·d) from gestational day 11 until delivery. The offspring rats with normal diet or HFD were euthanized at postnatal week 24, and blood samples were collected. Results showed that PCE not only reduced serum adrenocorticotropic hormone (ACTH) and corticosterone levels, but also enhanced serum glucose, triglyceride and total cholesterol (TCH) concentrations in the offspring rats. Moreover, several interactions among PCE, HFD and gender were observed by a three-way ANOVA analysis. In PCE offspring, HFD could aggravate the degree of increased serum triglyceride level. Meanwhile, serum corticosterone levels of females were decreased more obviously than those of males in PCE offspring. The results also revealed interactions between HFD and gender in the levels of serum ACTH, triglyceride and TCH, which were changed more evidently in female HFD offspring. These results indicate that HFD could exacerbate the dysfunction of lipid metabolism and the susceptibility to MS induced by PCE, and the female offspring are more sensitive to HFD-induced neuroendocrine metabolic dysfunction than their male counterparts. - Highlights: • Caffeine induced HPA axis dysfunction in offspring rats fed by high-fat diet (HFD). • Caffeine induced an increased susceptibility to metabolic syndrome. • HFD aggravated susceptibility to metabolic syndrome induced by caffeine. • Female was more sensitive to HFD-induced neuroendocrine

  3. Gender-specific increase in susceptibility to metabolic syndrome of offspring rats after prenatal caffeine exposure with post-weaning high-fat diet

    International Nuclear Information System (INIS)

    Li, Jing; Luo, Hanwen; Wu, Yimeng; He, Zheng; Zhang, Li; Guo, Yu; Ma, Lu; Magdalou, Jacques; Chen, Liaobin; Wang, Hui

    2015-01-01

    Prenatal caffeine exposure (PCE) alters the hypothalamic–pituitary–adrenocortical (HPA) axis-associated neuroendocrine metabolic programming and induces an increased susceptibility to metabolic syndrome (MS) in intrauterine growth retardation (IUGR) offspring rats. High-fat diet (HFD) is one of the main environmental factors accounting for the incidence of MS. In this study, we aimed to clarify the gender-specific increase in susceptibility to MS in offspring rats after PCE with post-weaning HFD. Maternal Wistar rats were administered with caffeine (120 mg/kg·d) from gestational day 11 until delivery. The offspring rats with normal diet or HFD were euthanized at postnatal week 24, and blood samples were collected. Results showed that PCE not only reduced serum adrenocorticotropic hormone (ACTH) and corticosterone levels, but also enhanced serum glucose, triglyceride and total cholesterol (TCH) concentrations in the offspring rats. Moreover, several interactions among PCE, HFD and gender were observed by a three-way ANOVA analysis. In PCE offspring, HFD could aggravate the degree of increased serum triglyceride level. Meanwhile, serum corticosterone levels of females were decreased more obviously than those of males in PCE offspring. The results also revealed interactions between HFD and gender in the levels of serum ACTH, triglyceride and TCH, which were changed more evidently in female HFD offspring. These results indicate that HFD could exacerbate the dysfunction of lipid metabolism and the susceptibility to MS induced by PCE, and the female offspring are more sensitive to HFD-induced neuroendocrine metabolic dysfunction than their male counterparts. - Highlights: • Caffeine induced HPA axis dysfunction in offspring rats fed by high-fat diet (HFD). • Caffeine induced an increased susceptibility to metabolic syndrome. • HFD aggravated susceptibility to metabolic syndrome induced by caffeine. • Female was more sensitive to HFD-induced neuroendocrine

  4. Increased thrombin generation in women with polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Glintborg, Dorte; Sidelmann, Johannes Jakobsen; Lambaa Altinok, Magda

    2015-01-01

    Objective. Polycystic ovary syndrome (PCOS) is associated with risk factors for cardiovascular disease (CVD) which may be modified by the use of metformin and oral contraceptives (OC). Thrombin generation (TG) measures are risk markers of CVD and address the composite of multiple factors...

  5. Increasing the Effectiveness of Education for Students with Tourette Syndrome.

    Science.gov (United States)

    Wilson, Jeni; Shrimpton, Bradley

    This paper examines the educational implications for students with Tourette syndrome (TS) and outlines a multi-dimensional approach for improving their education. It presents data from two qualitative studies in Australia. TS is a debilitating neurological disorder that causes involuntary vocal and motor tics. The first study investigated the…

  6. Fluvastatin increases insulin-like growth factor-1 gene expression in rat model of metabolic syndrome

    International Nuclear Information System (INIS)

    Mansy, Wael H.; Sourour, Doaa A.; Shaker, Olfat G.; Mahfouz, Mahmoud M.

    2008-01-01

    Insulin-like growth factor-1 (IGF-1) was found to have a role in both glucose homeostasis and cardiovascular diseases. The present study was designed to compare the effects of fluvastatin and metformin on IGF-1 mRNA expression within the liver and other individual components of the metabolic syndrome induced in rats by high fructose feeding. Rats fed 60% fructose in diet for 6 weeks were treated daily with fluvastatin (3.75 mg/kg/day) during the last two weeks and were compared with untreated fructose fed group. Fasting levels of plasma cholesterol, triglyceride, glucose, insulin, nitric oxide products, IGF-1 mRNA within the liver as well as systolic blood pressure and body weight were determined. Compared to control rats, the fructose fed group developed hypertension, hyperlipidemia, hyperinsulinemia, hyperglycemia and endothelial dysfunction as well as decreased levels of plasma IGF-1 and its mRNA within the liver. Fructose fed rats treated with fluvastatin or metformin for 2 weeks showed significant decrease in plasma cholesterol, triglyceride, insulin and glucose levels compared to untreated fructose fed group. Also, both drugs increased significantly plasma levels of nitric oxide products and IGF-1 together with significant increase in IGF-1 mRNA within the liver. However, only metformin treated rats showed significant decrease in systolic blood pressure compared to fructose fed group. This study showed that in a rat model of insulin resistance, fluvastatin improves the metabolic profile and increases plasma level of IGF-1 and its gene expression as effective as metformin. (author)

  7. Is prolactin the missing link in adipose tissue dysfunction of polycystic ovary syndrome patients?

    Science.gov (United States)

    Albu, Alice; Florea, Suzana; Fica, Simona

    2016-01-01

    The aims of the study were to evaluate whether adiposity was among the determinants of circulating prolactin levels and to determine whether serum prolactin independently predicted metabolic abnormalities in patients with polycystic ovary syndrome (PCOS). A total of 322 PCOS patients with normal serum prolactin levels were recruited between January 2007 and January 2014. Anthropometric, metabolic, and hormonal parameters were measured in all of the patients. HOMA-IR was calculated as an index of insulin resistance. Serum prolactin was negatively correlated with age (p prolactin after adjustment for age, leptin, and anthropometrical adiposity parameters. Of the adiposity parameters, only WHR and VAI were independent predictors of serum prolactin after adjustment for adiponectin. Circulating prolactin was also negatively correlated with fasting glycemia (only in patients with normal glucose metabolism, p = 0.037) and was inversely correlated with the presence of metabolic syndrome (p prolactin level was related to adipose tissue quantity and function, and adiponectin was a possible mediator of this relationship. Low serum prolactin levels were associated with an unfavorable metabolic profile, but this association seemed to be due to the complex interplay among prolactin, adiposity, and insulin resistance rather than to a direct metabolic effect of prolactin.

  8. Opioids Increase Sexual Dysfunction in Patients With Non-Cancer Pain.

    Science.gov (United States)

    Ajo, Raquel; Segura, Ana; Inda, María M; Planelles, Beatriz; Martínez, Luz; Ferrández, Guillermina; Sánchez, Angel; César Margarit; Peiró, Ana-María

    2016-09-01

    Long-term opioid therapy has been found to have a strong impact on the hypothalamic-pituitary-gonadal axis that can be manifested clinically by sexual dysfunction (SD). This event is rarely reported and thus unnoticed and undertreated. To analyze the presence of SD in a large group of patients receiving long-term opioids. A descriptive, cross-sectional pilot study of sexual health was conducted for 2 years in 750 consecutive ambulatory patients with chronic non-cancer pain (CNP) receiving opioids for at least 12 months. Cases that reported SD and matched controls were included. Standardized questionnaires and medical record reviews were used to assess rates of pain at diagnosis, daily morphine equivalent doses, and opioid adverse effects. Sexual function was determined by the Female Sexual Function Index (FSFI; scores = 2-36) and the International Index of Erectile Function erectile function domain (IIEF-EF; scores = 1-30). Thirty-three percent of 33% of 750 patients with CNP recorded SD based on their spontaneous notification at the pain unit. Men reported SD significantly more frequently than women (33% vs 25%, respectively, P < .05), although they reported having a regular partner (84% vs 70%, P = .03) and a sexually active life (69% vs 34%, respectively, P = .00) significantly more often. FSFI scores were significantly influenced by sexual activity in lubrication and arousal. IIEF scores were significantly determined by age in satisfaction with sexual intercourse and overall satisfaction. The morphine equivalent dose was significant higher in men than in women (38%; median = 70 mg/d, interquartile range = 43.1-170, 115.5 ± 110.3 mg/d vs median = 60 mg/d, interquartile range = 30-100.6, 76.67 ± 63.79 mg/d, P = .016) at the same mean intensity of pain (P = .54), which correlated to FSFI scores (r = -0.313, P = .01). SD is prevalent in patients with CNP and higher in men who received a significantly higher mean opioid dose at the same intensity pain

  9. Evidence of uncoupling between renal dysfunction and injury in cardiorenal syndrome: insights from the BIONICS study.

    Science.gov (United States)

    Legrand, Matthieu; De Berardinis, Benedetta; Gaggin, Hanna K; Magrini, Laura; Belcher, Arianna; Zancla, Benedetta; Femia, Alexandra; Simon, Mandy; Motiwala, Shweta; Sambhare, Rasika; Di Somma, Salvatore; Mebazaa, Alexandre; Vaidya, Vishal S; Januzzi, James L

    2014-01-01

    The objective of the study was to assess urinary biomarkers of renal injury for their individual or collective ability to predict Worsening renal function (WRF) in patients with acutely decompensated heart failure (ADHF). In a prospective, blinded international study, 87 emergency department (ED) patients with ADHF were evaluated with biomarkers of cardiac stretch (B type natriuretic peptide [BNP] and its amino terminal equivalent [NT-proBNP], ST2), biomarkers of renal function (creatinine, estimated glomerular filtration rate [eGFR]) and biomarkers of renal injury (plasma neutrophil gelatinase associated lipocalin [pNGAL], urine kidney injury molecule-1 [KIM-1], urine N-acetyl-beta-D-glucosaminidase [NAG], urine Cystatin C, urine fibrinogen). The primary endpoint was WRF. 26% developed WRF; baseline characteristics of subjects who developed WRF were generally comparable to those who did not. Biomarkers of renal function and urine biomarkers of renal injury were not correlated, while urine biomarkers of renal injury correlated between each other. Biomarker concentrations were similar between patients with and without WRF except for baseline BNP. Although plasma NGAL was associated with the combined endpoint, none of the biomarker showed predictive accuracy for WRF. In ED patients with ADHF, urine biomarkers of renal injury did not predict WRF. Our data suggest that a weak association exists between renal dysfunction and renal injury in this setting (Clinicaltrials.gov NCT#0150153).

  10. Post-procedural hemodiafiltration in acute coronary syndrome patients with associated renal and cardiac dysfunction undergoing urgent and emergency coronary angiography.

    Science.gov (United States)

    Marenzi, Giancarlo; Mazzotta, Gianfranco; Londrino, Francesco; Gistri, Roberto; Moltrasio, Marco; Cabiati, Angelo; Assanelli, Emilio; Veglia, Fabrizio; Rombolà, Giuseppe

    2015-02-15

    We investigated the use of a 3-hr treatment with hemodiafiltration, initiated soon after emergency or urgent coronary angiography in acute coronary syndrome (ACS) patients with associated severe renal and cardiac dysfunction. Patients with ACS and severe combined renal and cardiac dysfunction have a particularly high mortality risk. In them, the ideal strategy to both optimize treatment of coronary disease and minimize renal injury risk is currently unknown. This was an interventional study. ACS patients (STEMI and NSTEMI) with associated severe renal (eGFR ≤30 ml/min/1.73 m(2) ) and cardiac (LVEF ≤40%) dysfunction, admitted at La Spezia Hospital renal replacement therapy during hospitalization (7% vs. 27%; P = 0.04). Our pilot study suggests that, in ACS patients with severe renal and cardiac insufficiency, treatment with an aggressive prophylactic hemodiafiltration session after urgent or emergency coronary angiography seems to be associated with a relevant improvement in survival. © 2014 Wiley Periodicals, Inc.

  11. Gastrointestinal dysfunction in a community sample of subjects with symptoms of irritable bowel syndrome

    DEFF Research Database (Denmark)

    Lanng, Charlotte; Mortensen, Dennis; Friis, Merete

    2003-01-01

    BACKGROUND/AIM: Irritable bowel syndrome (IBS) affects about 15-20% of the population of the Western countries. Traditionally, IBS has been an exclusion diagnosis, but recently definitions have emerged from population-based research. The aim of this population-based study was to evaluate any...... evaluation. IBS was defined as more than weekly experience of abdominal pain and distension, and in addition either borborygmia or altering stool consistency. The diagnostic work-up consisted of gastroscopy, manometry and 23-hour pH and pressure recordings of the oesophagus, lactose tolerance test, barium...... enema, measurement of colonic transit time, and rectoscopy. RESULTS: Compared to the group without abdominal complaints significantly more subjects with IBS had spasms of the colon (OR = 10.2 (1.2-87.3)), and abnormal contractions of the oesophagus at manometry (OR = 9.1 (1.1-78.2)). Furthermore...

  12. The syndrome of progressive posterior cortical dysfunction: A multiple case study and review

    Directory of Open Access Journals (Sweden)

    Renata Areza-Fegyveres

    Full Text Available Abstract Dementia presenting with prominent higher order visual symptoms may be observed in a range of neurodegenerative conditions and is often challenging to diagnose. Objectives: To describe cases of progressive dementia presenting with prominent visual cortical symptoms. Methods: We conducted a retrospective search of cases of progressive dementia with predominant visual symptoms, seen at our dementia unit from 1996 to 2006. Results: Twelve patients (5 men, 7 women were identified, with ages ranging from 49 to 67 years. At the first examination, the duration of the symptoms ranged from one to ten years and the Mini-Mental State Examination scores from 7 to 27. Eleven patients presented with predominant visuospatial symptoms (partial or complete Balint syndrome and one with visuoperceptive impairment. Other reported manifestations were: constructional apraxia in 11 patients, partial or complete Gerstmann syndrome in ten, ideomotor apraxia in nine, hemineglect or extinction in four patients, alien hand phenomenon in three, and prosopagnosia in one patient. Memory loss was reported by ten patients, but was not the main complaint in any of these cases. Insight was relatively preserved in five patients even after a long period following the onset of symptoms. Six patients developed parkinsonism during evolution. Clinical diagnoses were possible or probable AD in seven patients, cortico-basal degeneration in four, and dementia with Lewy body in one. Conclusions: Clinicians should consider this condition especially in presenile patients with slowly progressive higher-order visual symptoms. Although described in association with different conditions, it may also occur in Alzheimer disease.

  13. Mass psychogenic illness: psychological predisposition and iatrogenic pseudo-vocal cord dysfunction and pseudo-reactive airways disease syndrome.

    Science.gov (United States)

    Staudenmayer, Herman; Christopher, Kent L; Repsher, Lawrence; Hill, Ronald H

    2011-06-01

    A multidisciplinary team assessed five patients who alleged chronic medically unexplained multiorgan system symptoms described by idiopathic environmental intolerance allegedly triggered by exposure to solvents used in membrane roofing repair work on an office building. The event precipitated an incident of mass psychogenic illness (MPI). Treating physicians diagnosed irritant-associated vocal cord dysfunction (IVCD) and reactive airways disease syndrome (RADS) resulting from exposure. The authors conducted medical, psychological, and industrial hygiene evaluations. Air monitoring data for total volatile organic compounds obtained during the 2-day exposure period, measurements of emissions during membrane roofing repair at a similar site, mathematical modeling of air contaminant concentrations, and injection of tracer gas into the incident building revealed exposure levels well below those doses anticipated to cause clinical symptoms. There was no objective medical evidence validating symptoms. Review of the medical records indicated that the video laryngoscopy data, pulmonary function tests, and medical examinations relied upon by the treating physicians were inconsistent with published criteria for IVCD and RADS. Psychological evaluation identified defensiveness and self-serving misrepresentations of exaggerated health concerns associated with somatization and malingering. Each case had personality traits associated with at least one personality disorder. Social histories identified premorbid life events and stressors associated with distress. This is the first study to assess psychological predisposition, social interaction among the plaintiffs, and iatrogenic reinforcement of beliefs by diagnoses of pseudo-disorders associated with patient misrepresentation of exaggerated health concerns in an incident of MPI.

  14. Elevated CaMKIIα and Hyperphosphorylation of Homer Mediate Circuit Dysfunction in a Fragile X Syndrome Mouse Model

    Directory of Open Access Journals (Sweden)

    Weirui Guo

    2015-12-01

    Full Text Available Abnormal metabotropic glutamate receptor 5 (mGluR5 function, as a result of disrupted scaffolding with its binding partner Homer, contributes to the pathophysiology of fragile X syndrome, a common inherited form of intellectual disability and autism caused by mutations in Fmr1. How loss of Fmr1 disrupts mGluR5-Homer scaffolds is unknown, and little is known about the dynamic regulation of mGluR5-Homer scaffolds in wild-type neurons. Here, we demonstrate that brief (minutes-long elevations in neural activity cause CaMKIIα-mediated phosphorylation of long Homer proteins and dissociation from mGluR5 at synapses. In Fmr1 knockout (KO cortex, Homers are hyperphosphorylated as a result of elevated CaMKIIα protein. Genetic or pharmacological inhibition of CaMKIIα or replacement of Homers with dephosphomimetics restores mGluR5-Homer scaffolds and multiple Fmr1 KO phenotypes, including circuit hyperexcitability and/or seizures. This work links translational control of an FMRP target mRNA, CaMKIIα, to the molecular-, cellular-, and circuit-level brain dysfunction in a complex neurodevelopmental disorder.

  15. The inter-relational effect of metabolic syndrome and sexual dysfunction on hypogonadism in type II diabetic men.

    Science.gov (United States)

    Amidu, N; Owiredu, W K B A; Gyasi-Sarpong, C K; Alidu, H; Antuamwine, B B; Sarpong, C

    2017-05-01

    We sought to establish the interplay of metabolic syndrome (MetS) and/or sexual dysfunction (SD) on hypogonadism. Sexual functioning was assessed using Golombok Rust Inventory of Sexual Satisfaction in 274 consecutive diabetic men visiting the diabetic clinic of the Tema General Hospital between November 2010 and March 2011. MetS was assessed employing the criteria of World Health Organization, International Diabetic Federation and the National Cholesterol Education Program Adult Treatment Panel III while testosterone levels were estimated. The mean ages and duration of diabetes from this study were 59.9±11.3 and 6.8±5.9 years, respectively. The prevalence of hypogonadism was 7.3%, with the -SD/+MetS subjects showing the highest prevalence of hypogonadism, irrespective of the criteria used. Additionally, subjects with MetS and its components had a significantly lower level of testosterone compared with those without MetS and its components. Using standard nine-point scale, it was observed that subjects who avoided sexual act had significantly (P=0.0410) lower testosterone values (5.8±2.3 ng ml -1 ) than subjects who did not avoid sexual act (6.4±2.6 ng ml -1 ). MetS alone impacted more on hypogonadism than SD alone or both conditions altogether.

  16. Obesity, metabolic syndrome, impaired fasting glucose, and microvascular dysfunction: a principal component analysis approach

    Directory of Open Access Journals (Sweden)

    Panazzolo Diogo G

    2012-11-01

    Full Text Available Abstract Background We aimed to evaluate the multivariate association between functional microvascular variables and clinical-laboratorial-anthropometrical measurements. Methods Data from 189 female subjects (34.0±15.5 years, 30.5±7.1 kg/m2, who were non-smokers, non-regular drug users, without a history of diabetes and/or hypertension, were analyzed by principal component analysis (PCA. PCA is a classical multivariate exploratory tool because it highlights common variation between variables allowing inferences about possible biological meaning of associations between them, without pre-establishing cause-effect relationships. In total, 15 variables were used for PCA: body mass index (BMI, waist circumference, systolic and diastolic blood pressure (BP, fasting plasma glucose, levels of total cholesterol, high-density lipoprotein cholesterol (HDL-c, low-density lipoprotein cholesterol (LDL-c, triglycerides (TG, insulin, C-reactive protein (CRP, and functional microvascular variables measured by nailfold videocapillaroscopy. Nailfold videocapillaroscopy was used for direct visualization of nutritive capillaries, assessing functional capillary density, red blood cell velocity (RBCV at rest and peak after 1 min of arterial occlusion (RBCVmax, and the time taken to reach RBCVmax (TRBCVmax. Results A total of 35% of subjects had metabolic syndrome, 77% were overweight/obese, and 9.5% had impaired fasting glucose. PCA was able to recognize that functional microvascular variables and clinical-laboratorial-anthropometrical measurements had a similar variation. The first five principal components explained most of the intrinsic variation of the data. For example, principal component 1 was associated with BMI, waist circumference, systolic BP, diastolic BP, insulin, TG, CRP, and TRBCVmax varying in the same way. Principal component 1 also showed a strong association among HDL-c, RBCV, and RBCVmax, but in the opposite way. Principal component 3 was

  17. Immune response against the coiled coil domain of Sjögren's syndrome associated autoantigen Ro52 induces salivary gland dysfunction.

    Science.gov (United States)

    Sroka, Magdalena; Bagavant, Harini; Biswas, Indranil; Ballard, Abigail; Deshmukh, Umesh S

    2018-01-31

    The structural domains of Ro52, termed the RING, B-box, coiled coil (CC) and B30.2/SPRY are targets of anti-Ro52 in multiple autoimmune disorders. In Sjögren's syndrome patients, the presence of anti-Ro52 is associated with higher disease severity, and in mice, they induce salivary gland hypofunction. This study was undertaken to investigate whether immune responses against different domains of Ro52, influences salivary gland disease in mice. Female NZM2758 mice were immunised with Ro52 domains expressed as recombinant fusion proteins with maltose binding protein (MBP) [MBP-RING-B-box, MBP-CC, MBP-CC(ΔC19), MBP-B30.2/SPRY]. Sera from immunised mice were studied for IgG antibodies to Ro52 by immunoprecipitation, and to salivary gland cells by immunofluorescence. Pilocarpine-induced saliva production was measured to evaluate salivary gland function. Submandibular glands were investigated by histopathology for inflammation and by immune-histochemistry for IgG deposition. Mice immunised with different Ro52-domains had comparable reactivity to Ro52 and to salivary gland cells. However, only mice immunised with the CC domain and its C-terminal truncated version CC(ΔC19) showed a significant drop in saliva production. None of the mice developed severe salivary gland inflammation. The salivary gland hypofunction significantly correlated with increased intra-lobar IgG deposits in the submandibular salivary glands. Our data demonstrate that epitope specificity of anti-Ro52 antibodies plays a critical role in the induction of glandular dysfunction. Clearly, screening Sjögren's syndrome patients for relative levels of Ro52 domain specific antibodies will be more informative for associating anti-Ro52 with clinical measures of the disorder.

  18. Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome.

    Science.gov (United States)

    Llewellyn, Katrina J; Nalbandian, Angèle; Gomez, Arianna; Wei, Don; Walker, Naomi; Kimonis, Virginia E

    2015-04-01

    Genetic defects in the UBE3A gene, which encodes for the imprinted E6-AP ubiquitin E3 ligase (UBE3A), is responsible for the occurrence of Angelman syndrome (AS), a neurodegenerative disorder which arises in 1 out of every 12,000-20,000 births. Classical symptoms of AS include delayed development, impaired speech, and epileptic seizures with characteristic electroencephalography (EEG) readings. We have previously reported impaired mitochondrial structure and reduced complex III in the hippocampus and cerebellum in the Ube3a(m-/p+) mice. CoQ10 supplementation restores the electron flow to the mitochondrial respiratory chain (MRC) to ultimately increase mitochondrial antioxidant capacity. A number of recent studies with CoQ10 analogues seem promising in providing therapeutic benefit to patients with a variety of disorders. CoQ10 therapy has been reported to be safe and relatively well-tolerated at doses as high as 3000mg/day in patients with disorders of CoQ10 biosynthesis and MRC disorders. Herein, we report administration of idebenone, a potent CoQ10 analogue, to the Ube3a(m-/p+) mouse model corrects motor coordination and anxiety levels, and also improves the expression of complexes III and IV in hippocampus CA1 and CA2 neurons and cerebellum in these Ube3a(m-/p+) mice. However, treatment with idebenone illustrated no beneficial effects in the reduction of oxidative stress. To our knowledge, this is the first study to suggest an improvement in mitochondrial respiratory chain dysfunction via bioenergetics modulation with a CoQ10 analogue. These findings may further elucidate possible cellular and molecular mechanism(s) and ultimately a clinical therapeutic approach/benefit for patients with Angelman syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

  19. Turner syndrome and meningioma: support for a possible increased risk of neoplasia in Turner syndrome.

    Science.gov (United States)

    Pier, Danielle B; Nunes, Fabio P; Plotkin, Scott R; Stemmer-Rachamimov, Anat O; Kim, James C; Shih, Helen A; Brastianos, Priscilla; Lin, Angela E

    2014-01-01

    Neoplasia is uncommon in Turner syndrome, although there is some evidence that brain tumors are more common in Turner syndrome patients than in the general population. We describe a woman with Turner syndrome (45,X) with a meningioma, in whom a second neoplasia, basal cell carcinomas of the scalp and nose, developed five years later in the absence of therapeutic radiation. Together with 7 cases of Turner syndrome with meningioma from a population-based survey in the United Kingdom, and 3 other isolated cases in the literature, we review this small number of patients for evidence of risk factors related to Turner syndrome, such as associated structural anomalies or prior treatment. We performed histological and fluorescent in situ hybridization (FISH) of 22q (NF2 locus) analyses of the meningeal tumor to search for possible molecular determinants. We are not able to prove causation between these two entities, but suggest that neoplasia may be a rare associated medical problem in Turner syndrome. Additional case reports and extension of population-based studies are needed. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  20. Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders.

    Science.gov (United States)

    Deardorff, Matthew A; Porter, Nicholas J; Christianson, David W

    2016-11-01

    Cornelia de Lange Syndrome (CdLS) encompasses a broad spectrum of phenotypes characterized by distinctive craniofacial abnormalities, limb malformations, growth retardation, and intellectual disability. CdLS spectrum disorders are referred to as cohesinopathies, with ∼70% of patients having a mutation in a gene encoding a core cohesin protein (SMC1A, SMC3, or RAD21) or a cohesin regulatory protein (NIPBL or HDAC8). Notably, the regulatory function of HDAC8 in cohesin biology has only recently been discovered. This Zn 2+ -dependent hydrolase catalyzes the deacetylation of SMC3, a necessary step for cohesin recycling during the cell cycle. To date, 23 different missense mutants in the gene encoding HDAC8 have been identified in children with developmental features that overlap those of CdLS. Enzymological, biophysical, and structural studies of CdLS HDAC8 protein mutants have yielded critical insight on compromised catalysis in vitro. Most CdLS HDAC8 mutations trigger structural changes that directly or indirectly impact substrate binding and catalysis. Additionally, several mutations significantly compromise protein thermostability. Intriguingly, catalytic activity in many HDAC8 mutants can be partially or fully restored by an N-acylthiourea activator, suggesting a plausible strategy for the chemical rescue of compromised HDAC8 catalysis in vivo. © 2016 The Protein Society.

  1. Language deficits as a possible symptom of right hemisphere dysfunctions in Asperger’s syndrome

    Directory of Open Access Journals (Sweden)

    Anita Bryńska

    2010-12-01

    Full Text Available Qualitative communication disorders belong to the key symptoms of pervasive developmental disorders (PDD. The severity of the symptoms of communication disorders varies depending on the type of PDD, from the lack of functional speech to overdeveloped verbal competencies measured by standardized scales. In Asperger’s syndrome (AS, observed language abnormalities include: pragmatics (application of language in social context, semantics (identifying different meanings of the same word and prosody (rhythm, intonation and modulation of speech. In the case of AS, the difference between formal language skills, i.e. within morphological, phonological and syntactic functions, and semantic and pragmatic deficits is clearly noticeable and distinctive. This situation arouses some questions about neurobiological conditions of these deficits. The language functions are among the first functions for which locations in the brain have been established. Traditionally they have been ascribed to some regions in the left hemisphere; they undergo lateralization and are accomplished owing to the activity of the primary, secondary and tertiary regions of associative cortex. However, there is also quite a lot of evidence suggesting that the right hemisphere plays an important role in communication processes, especially in some aspects of pragmatics and discourse. The analysis of communication deficits observed in patients with acquired right hemisphere damages and patients with AS as well as abnormal patterns of hemispheric asymmetry in this group of patients, suggest that the right hemisphere is involved in aetiology of PDD.

  2. Loss of PKCδ results in characteristics of Sjögren's syndrome including salivary gland dysfunction.

    Science.gov (United States)

    Banninger, G P; Cha, S; Said, M S; Pauley, K M; Carter, C J; Onate, M; Pauley, B A; Anderson, S M; Reyland, M E

    2011-09-01

    Chronic infiltration of lymphocytes into the salivary and lacrimal glands of patients with Sjögren's syndrome (SS) leads to destruction of acinar cells and loss of exocrine function. Protein kinase C-delta (PKCδ) is known to play a critical role in B-cell maintenance. Mice in which the PKCδ gene has been disrupted have a loss of B-cell tolerance, multiple organ lymphocytic infiltration, and altered apoptosis. To determine whether PKCδ contributes to the pathogenesis of SS, we quantified changes in indicators of SS in PKCδ-/- mice as a function of age. Salivary gland histology, function, the presence of autoantibodies, and cytokine expression were examined. Submandibular glands were examined for the presence of lymphocytic infiltrates, and the type of infiltrating lymphocyte and cytokine deposition was evaluated by immunohistochemistry. Serum samples were tested by autoantibody screening, which was graded by its staining pattern and intensity. Salivary gland function was determined by saliva collection at various ages. PKCδ-/- mice have reduced salivary gland function, B220+ B-cell infiltration, anti-nuclear antibody production, and elevated IFN-γ in the salivary glands as compared to PKCδ+/+ littermates. PKCδ-/- mice have exocrine gland tissue damage indicative of a SS-like phenotype. © 2011 John Wiley & Sons A/S.

  3. Down Syndrome Increases the Risk of Short-Term Complications After Total Hip Arthroplasty.

    Science.gov (United States)

    Boylan, Matthew R; Kapadia, Bhaveen H; Issa, Kimona; Perfetti, Dean C; Maheshwari, Aditya V; Mont, Michael A

    2016-02-01

    Down syndrome is the most common chromosomal abnormality and is associated with degenerative hip disease. Because of the recent increase in life expectancy for patients with this syndrome, orthopaedic surgeons are likely to see an increasing number of these patients who are candidates for total hip arthroplasty (THA). Using Nationwide Inpatient Sample (NIS) data from 1998 to 2010, we compared the short-term adverse outcomes of THA among 241 patients with Down syndrome and a matched 723-patient cohort. Specifically, we assessed: (1) incidence of THA; (2) perioperative medical and surgical complications during the primary hospitalization; (3) length of stay; and (4) hospital charges. The annual mean number of patients with Down syndrome undergoing THA was 19. Compared to matched controls, Down syndrome patients had an increased risk of perioperative (OR, 4.33; PDown syndrome patients had significantly higher incidence rates of pneumonia (P=.001), urinary tract infection (PDown syndrome patients were 26% longer (PDown syndrome who is a candidate for THA, orthopaedic surgeons should educate the patient, family and their clinical decision makers about the increased risk of medical complications (pneumonia and urinary tract infections), surgical complications (wound hemorrhage), and lengths of stay compared to the general population. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Increased plasma concentrations of midregional proatrial natriuretic Peptide is associated with risk of cardiorenal dysfunction in type 1 diabetes

    DEFF Research Database (Denmark)

    Theilade, Simone; Hansen, Tine Willum; Goetze, Jens Peter

    2015-01-01

    in patients with or without autonomic dysfunction or retinopathy (P ≥ 0.076). During follow-up (3.5 (3.1-4.0) years), higher MR-proANP concentrations predicted ESRD and mortality combined (n = 35) adjusted for gender, age, systolic blood pressure, eGFR, and previous CVD (hazard ratio per 1SD increase in log......BACKGROUND: To examine possible associations between midregional proatrial natriuretic peptide (MR-proANP) and diabetic complications at baseline and risk of mortality and end-stage renal disease (ESRD) during follow-up in type 1 diabetes. METHODS: Observational study including 667 patients...... = 369), and retinopathy (n = 523). Adjustments included gender, age, systolic blood pressure, estimated glomerular filtration rate (eGFR), UAER, HbA1c, total cholesterol, 24-hour urinary sodium excretion (24h-U(Na)), body mass index, daily insulin dose, antihypertensive treatment, and smoking in linear...

  5. Bariatric Surgery Improves Hyperandrogenism, Menstrual Irregularities, and Metabolic Dysfunction Among Women with Polycystic Ovary Syndrome (PCOS).

    Science.gov (United States)

    Christ, Jacob P; Falcone, Tommaso

    2018-03-02

    To characterize the impact of bariatric surgery on reproductive and metabolic features common to polycystic ovary syndrome (PCOS) and to assess the relevance of preoperative evaluations in predicting likelihood of benefit from surgery. A retrospective chart review of records from 930 women who had undergone bariatric surgery at the Cleveland Clinic Foundation from 2009 to 2014 was completed. Cases of PCOS were identified from ICD coding and healthy women with pelvic ultrasound evaluations were identified using Healthcare Common Procedure Coding System coding. Pre- and postoperative anthropometric evaluations, menstrual cyclicity, ovarian volume (OV) as well as markers of hyperandrogenism, dyslipidemia, and dysglycemia were evaluated. Forty-four women with PCOS and 65 controls were evaluated. Both PCOS and non-PCOS had significant reductions in body mass index (BMI) and markers of dyslipidemia postoperatively (p < 0.05). PCOS had significant reductions in androgen levels (p < 0.05) and percent meeting criteria for hyperandrogenism and irregular menses (p < 0.05). OV did not significantly decline in either group postoperatively. Among PCOS, independent of preoperative BMI and age, preoperative OV associated with change in hemoglobin A1c (β 95% (confidence interval) 0.202 (0.011-0.393), p = 0.04) and change in triglycerides (6.681 (1.028-12.334), p = 0.03), and preoperative free testosterone associated with change in total cholesterol (3.744 (0.906-6.583), p = 0.02) and change in non-HDL-C (3.125 (0.453-5.796), p = 0.03). Bariatric surgery improves key diagnostic features seen in women with PCOS and ovarian volume, and free testosterone may have utility in predicting likelihood of metabolic benefit from surgery.

  6. Cerebral 5-HT2A receptor binding is increased in patients with Tourette's syndrome

    DEFF Research Database (Denmark)

    Haugbøl, Steven; Pinborg, Lars H.; Regeur, Lisbeth

    2007-01-01

    Experimental and clinical data have suggested that abnormalities in the serotonergic neurotransmissions in frontal-subcortical circuits are involved in Tourette's syndrome. To test the hypothesis that the brain's 5-HT2A receptor binding is increased in patients with Tourette's syndrome, PET imaging...... was performed. Twenty adults with Tourette's syndrome and 20 healthy control subjects were investigated with PET-[18F]altanserin using a bolus-infusion protocol. Regions of interest were delineated automatically on co-registered MRI images, and partial volume-corrected binding parameters were extracted from...... the PET images. Comparison between control subjects and Tourette's syndrome patients showed increased specific [18F]altanserin binding, not only in the a-priori selected brain regions hypothesized to be involved in Tourette's syndrome, but also post-hoc analysis showed a global up-regulation when testing...

  7. Hemostatic dysfunction is increased in patients with hepatosplenic schistosomiasis mansoni and advanced periportal fibrosis.

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    Luiz Arthur Calheiros Leite

    Full Text Available BACKGROUND: Schistosomiasis mansoni is an endemic parasitic disease and a public health problem in Northeast Brazil. In some patients, hepatic abnormalities lead to periportal fibrosis and result in the most severe clinical form, hepatosplenic schistosomiasis. This study aimed to evaluate whether abnormal blood coagulation and liver function tests in patients with hepatosplenic schistosomiasis (n = 55 correlate with the severity of their periportal fibrosis. METHODOLOGY/PRINCIPAL FINDINGS: Blood samples were used for liver function tests, hemogram and prothrombin time (International Normalized Ratio, INR. The blood coagulation factors (II, VII, VIII, IX and X, protein C and antithrombin IIa (ATIIa, plasminogen activator inhibitor 1 (PAI-1 and D-dimer were measured by photometry or enzyme linked immunosorbent assay. Hyperfibrinolysis was defined on the basis of PAI-1 levels and a D-dimer concentration greater than a standard cut-off of 483 ng/mL. Standard liver function tests were all abnormal in the patient group compared to healthy controls (n = 29, including raised serum transaminases (p<0.001 and lower levels of albumin (p = 0.0156. Platelet counts were 50% lower in patients, while for coagulation factors there was a 40% increase in the INR (p<0.001 and reduced levels of Factor VII and protein C in patients compared to the controls (both p<0.001. Additionally, patients with more advanced fibrosis (n = 38 had lower levels of protein C compared to those with only central fibrosis (p = 0.0124. The concentration of plasma PAI-1 in patients was one-third that of the control group (p<0.001, and D-dimer levels 2.2 times higher (p<0.001 with 13 of the 55 patients having levels above the cut-off. CONCLUSION/SIGNIFICANCE: This study confirms that hemostatic abnormalities are associated with reduced liver function and increased liver fibrosis. Of note was the finding that a quarter of patients with hepatosplenic schistosomiasis and

  8. Increased Incidence of Thyroid Dysfunction and Autoimmunity in Patients with Vernal Keratoconjunctivitis

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    Stefano Stagi

    2014-01-01

    Full Text Available Hormones may play a role in the pathophysiology of vernal keratoconjunctivitis (VKC. An increased incidence of thyroid autoantibodies was recently observed in VKC, although there were no data on thyroid function. Two hundred and eighty-eight patients (202 males, 86 females; range 5.5 to 16.9 years with VKC were evaluated and compared with 188 normal age- and sex-matched subjects. In all subjects, serum concentrations of free T4, TSH, thyroperoxidase, thyroglobulin, and TSHr autoantibodies were evaluated. In VKC, the family history of thyroid diseases showed no significant differences compared to the controls (9.4 versus 8.6%, whereas the family history of autoimmune diseases was significantly higher (13.2% versus 6.3%; P<0.05. Subclinical hypothyroidism was diagnosed in 6.6% (versus 1.6% of the controls; P<0.05 and overt hypothyroidism in 0.7% (versus 0.0% of the controls; P=NS. Finally, 5.2% of patients were positive for thyroid autoantibodies, which were significantly higher with respect to the controls (0.5%, P<0.05. In the patients positive for thyroid autoantibodies, 80% showed a sonography pattern that suggested autoimmune thyroiditis. Thyroid function and autoimmunity abnormalities are frequently present in children with VKC. Children with VKC should be screened for thyroid function and evaluated for thyroid autoimmunity.

  9. Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype

    NARCIS (Netherlands)

    Booij, Jan; Reneman, Liesbeth; Alders, Marielle; Kuijpers, Taco W.

    2013-01-01

    Patients with Shwachman-Diamond syndrome (SDS) do not only experience well-described physical features like skeletal abnormalities and hematological dysfunctions, but recent studies also suggested attention and working memory deficits in SDS. Indeed, a recent structural magnetic resonance imaging

  10. Central obesity as a clinical marker of adiposopathy; increased visceral adiposity as a surrogate marker for global fat dysfunction

    Science.gov (United States)

    Bays, Harold

    2014-01-01

    Purpose of review Subcutaneous adipose tissue (SAT) is often described as ‘protective’. Visceral adipose tissue (VAT) is often described as ‘pathologic’. However, both SAT and VAT have protective and pathologic potential, with interdependent biologic functions. Recent findings Most of the body's (excess) energy is stored as fat in SAT. If during positive caloric balance, SAT does not undergo adequate adipogenesis, then excess energy may result in adipocyte hypertrophy, leading to hypoxia, immunopathies, and endocrinopathies. Energy overflow may promote accumulation of pericardial fat, perivascular fat, and myocardial fat, which may directly contribute to atherosclerotic cardiovascular disease (CVD). Lipotoxic free fatty acid delivery to nonadipose body organs (e.g. liver, muscle, and pancreas) may indirectly contribute to CVD by promoting the most common metabolic disorders encountered in clinical practice (e.g. high blood sugars, high blood pressure, and dyslipidaemia), all major CVD risk factors. Finally, SAT energy overflow may increase VAT accumulation, which is also associated with increased risk of metabolic diseases and CVD. Summary Increased VAT is a surrogate marker for SAT dysfunction which increases waist circumference, reflecting a shared pathologic process leading to the pathogenic fat accumulation of other fat depots and fatty infiltration of nonadipose body organs. Central obesity is a clinical marker for adiposopathy. PMID:25106000

  11. Inflammation-Induced Increases in Plasma Endocan Levels are Associated With Endothelial Dysfunction in Humans in vivo

    NARCIS (Netherlands)

    Cox, L.A.E.; Eijk, L.T.G.J. van; Ramakers, B.P.C.; Dorresteijn, M.J.; Gerretsen, J.; Kox, M.; Pickkers, P.

    2015-01-01

    Although endothelial dysfunction is central to the pathogenesis of sepsis, no specific and clinically applicable marker for endothelial dysfunction is currently available. Endocan, a proteoglycan excreted by endothelial cells in response to inflammatory cytokines, may serve as such a marker. Our

  12. Childhood trauma perpetrated by close others, psychiatric dysfunction, and urological symptoms in patients with interstitial cystitis/bladder pain syndrome.

    Science.gov (United States)

    Chiu, Chui-De; Lee, Ming-Huei; Chen, Wei-Chih; Ho, Hoi Lam; Wu, Huei-Ching

    2017-02-01

    A psychosocial phenotype of interstitial cystitis/bladder pain syndrome (IC/BPS), a urogenital condition without known organic causes, was proposed. While psychosocial variables, including interpersonal maltreatment and negative affect, were studied in association with IC/BPS, the specificities of the relationships between childhood trauma by close others, psychiatric dysfunctions (negative affect and post-traumatic psychopathology), and urogenital symptoms have not been established. 94 IC/BPS patients were recruited together with 47 patients with acute cystitis who served as clinical controls. Standardized scales were used to assess various potentially traumatizing events in childhood and adulthood as well as psychiatric (dissociation and negative affect) and urogenital symptoms. Among the potentially traumatizing events, those perpetrated by close others during childhood were found to be the most salient features discriminating the IC/BPS group from the control group. When divided into 2 subgroups according to their history of childhood trauma by close others, only IC/BPS patients with childhood trauma by close others had more dissociative and anxiety symptoms compared with the control group. These two subgroups did not differ in urogenital symptom severity. Childhood trauma by close others, rather than other types of interpersonal trauma, was a differentiating characteristic in IC/BPS patients, and a childhood trauma related psychosocial phenotype with a distinct clinical profile of dissociation and anxiety proneness was identified. Future studies should investigate whether a distinct set of pathogenic factors exists in IC/BPS patients with a history of childhood trauma by close others, even if this subgroup is not readily differentiated by urogenital symptoms. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Effect of continuous blood purification in treatment of patients with severe acute pancreatitis and multiple organ dysfunction syndrome

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    ZHANG Yong

    2016-02-01

    Full Text Available ObjectiveTo observe the effect of continuous blood purification (CBP on serum inflammatory mediators in patients with severe acute pancreatitis (SAP and multiple organ dysfunction syndrome (MODS. MethodsSixty-five SAP patients with MODS who were treated in General Hospital of Chengdu Command Area of Chinese PLA from April 2008 to December 2013 were enrolled and divided into two groups. The 33 patients in the control group received comprehensive internal medicine treatment, and the 32 patients in the treatment group received comprehensive internal medicine treatment and CBP. Changes in APACHE II score, MODS score, and the serum levels of tumor necrosis factor α (TNFα, C-reactive protein (CRP, interleukin 6 (IL-6, IL-18, platelet-activating factor (PAF, and nitric oxide (NO after treatment were observed. Independent-samples t test was applied for comparison of continuous data between the two groups, and paired t test was applied for before-after comparison within the same group; chi-squared test was applied for comparison of categorical data between the two groups. ResultsIn both groups, APACHE II score, MODS score, and the serum levels of TNFα, CRP, IL-6, IL-18, PAF, and NO decreased significantly after treatment (all P<0.05, and the treatment group had significantly greater decreases in these values than the control group (all P<0.001; the survival rates in the treatment group and the control group were 90.6% (29/32 and 78.8% (26/33, respectively, with no significant difference between the two groups (χ2=1.749, P=0.186. ConclusionIn SAP patients with MODS, CBP can effectively clear the serum inflammatory mediators to block systemic inflammatory response and improve organ function, and, therefore, it is an effective method to treat SAP.

  14. Nailfold capillaroscopy assessment of microcirculation abnormalities and endothelial dysfunction in children with primary or secondary Raynaud syndrome.

    Science.gov (United States)

    Latuskiewicz-Potemska, Joanna; Chmura-Skirlinska, Antonina; Gurbiel, Ryszard J; Smolewska, Elzbieta

    2016-08-01

    Raynaud syndrome (RS) manifests as episodes of transient spasms of peripheral blood vessels, most often in response to cold. The reason of that symptom (primary RS (pRS)) usually cannot be found but may be accompanied by some autoimmune diseases (secondary RS (sRS)). In this study, we assessed microcapillary status and serum concentrations of chosen cytokines, adhesive molecules, and nitric oxide (NO) in patients with pRS and sRS in comparison with healthy children. Eighty-six patients with RS were enrolled into the study, including 52 with pRS and 34 with sRS. The control group consisted of 29 healthy children. A decrease in myorelaxative and anticoagulant abilities was observed, with simultaneous prevalence of vasopressor substances and procoagulative activity. Therefore, several important factors such as endothelin-1 (ET-1), E-selectin (E-sel), interleukin-18 (IL-18), and nitrogen oxide (NO) were also analyzed. Two types of capillaroscopy status were determined: normal and microangiopathic. There was a significant relationship between presence of microangiopathy and higher serum ET-1 (p = 0.018) and E-sel (p = 0.021) levels. Similarly, we have found a correlation between presence of ANA and higher ET-1 (p = 0.005), but not E-sel (p = 0.241). In patients with pRS, we found significant relationship between ANA and higher ET-1 (p = 0.008). No such relations were observed in sRS patients. Our data indicates that external factor-induced vasoconstrictive effects dominated in pRS, whereas in sRS in the course of connective tissue diseases, it was accompanied by coexistent vasodilation due to endothelial dysfunction. The latter phenomenon is at least partially dependent on insufficient NO release.

  15. Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.

    Science.gov (United States)

    Chinen, Javier; Martinez-Gallo, Monica; Gu, Wenli; Cols, Montserrat; Cerutti, Andrea; Radigan, Lin; Zhang, Li; Potocki, Lorraine; Withers, Marjorie; Lupski, James R; Cunningham-Rundles, Charlotte

    2011-06-01

    Heterozygous deleterious mutations in the gene encoding the tumor necrosis factor receptor superfamily member 13b (TNFRSF13B), or transmembrane activator and CAML interactor (TACI), have been associated with the development of common variable immunodeficiency. Smith-Magenis syndrome (SMS) is a genetic disorder characterized by developmental delay, behavioral disturbances, craniofacial anomalies, and recurrent respiratory tract infections. Eighty percent of subjects have a chromosome 17p11.2 microdeletion, which includes TACI. The remaining subjects have mutations sparing this gene. We examined TACI protein expression and function in patients with SMS to define the role of TACI haploinsufficiency in B-cell function. We studied TACI expression and function in a cohort of 29 patients with SMS. In patients with SMS with only 1 TACI allele, we found decreased B-cell extracellular and intracellular expression of TACI, reduced binding of a proliferation-inducing ligand, and decreased TACI-induced expression of activation-induced cytidine deaminase mRNA, but these were normal for cells from patients with SMS and 2 TACI alleles. Impaired upregulation of B-cell surface TACI expression by a Toll-like receptor 9 agonist was also observed in cells from patients with 1 TACI allele. Gene sequence analysis of the remaining TACI allele revealed common polymorphisms, with the exception of 1 patient with an amino acid change of uncertain significance. Patients with SMS with the lowest TACI expression had significantly reduced antibody responses to pneumococcal vaccine serotypes. Our findings suggest that haploinsufficiency of the TACI gene results in humoral immune dysfunction, highlighting the role of genomic copy number variants in complex traits. Copyright © 2011 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.

  16. Exercise-induced vocal cord dysfunction and exercise-induced laryngomalacia in children and adolescents: the same clinical syndrome?

    Science.gov (United States)

    Tilles, Stephen A; Ayars, Andrew G; Picciano, Joseph F; Altman, Kathrine

    2013-11-01

    Exercise-induced respiratory symptoms associated with paradoxical laryngeal motion are relatively common and often mistaken for asthma. Exercise-induced vocal cord dysfunction (VCD) and exercise-induced laryngomalacia (LM) have been described separately in the literature but have never been systematically compared. To compare subjects with a confirmed diagnosis of exercise-induced VCD or exercise-induced LM by performing a retrospective chart review of subjects who had symptoms provoked by a free running exercise challenge and documented concurrent paradoxical laryngeal motion. Demographic and clinical characteristics were analyzed in patients with confirmed paradoxical motion of the vocal cords (VCD) and those with paradoxical arytenoid motion without abnormal vocal cord movement (LM) during symptoms. Sixty subjects with exercise-induced LM and 83 subjects with exercise-induced VCD were identified. Subjects with confirmed exercise-induced VCD were slightly older, had a higher body mass index, and higher grade point averages compared with subjects with exercise-induced LM without abnormal vocal cord movement. There were no differences in sex distribution, presenting symptoms, reported aggravating factors other than exercise, atopic status, confirmed bronchospasm during symptoms, mean number of asthma controller medications at time of evaluation, level of athletic competition, reported history of acid reflux, reported history of psychiatric disorders, baseline lung function, or lung function during symptoms. Most subjects were not "elite" athletes and did not have a history of anxiety or depression. There were remarkably few differences between subjects with exercise-induced VCD and those with exercise-induced LM. Prospective controlled studies are needed to determine whether exercise-induced VCD and exercise-induced LM are in fact distinct syndromes. Copyright © 2013 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

  17. Roles of calcium and IP3 in impaired colon contractility of rats following multiple organ dysfunction syndrome

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    C. Zheyu

    2007-10-01

    Full Text Available The purpose of the present study was to explore changes in rat colon motility, and determine the roles of calcium and inositol (1,4,5-triphosphate (IP3 in colon dysmotility induced by multiple organ dysfunction syndrome (MODS caused by bacteria peritonitis. The number of stools, the contractility of the muscle strips and the length of smooth muscle cells (SMC in the colon, the concentration of calcium and IP3 in SMC, and serum nitric oxide were measured. Number of stools, fecal weight, IP3 concentration in SMC and serum nitric oxide concentration were 0.77 ± 0.52 pellets, 2.51 ± 0.39 g, 4.14 ± 2.07 pmol/tube, and 113.95 ± 37.89 µmol/L, respectively, for the MODS group (N = 11 vs 1.54 ± 0.64 pellets, 4.32 ± 0.57 g, 8.19 ± 3.11 pmol/tube, and 37.42 ± 19.56 µmol/L for the control group (N = 20; P < 0.05. After treatment with 0.1 mM acetylcholine and 0.1 M potassium chloride, the maximum contraction stress of smooth muscle strips, the length of SMC and the changes of calcium concentration were 593 ± 81 and 458 ± 69 g/cm³, 48.1 ± 11.8 and 69.2 ± 15.7 µM, 250 ± 70 and 167 ± 48%, respectively, for the control group vs 321 ± 53 and 284 ± 56 g/cm³, 65.1 ± 18.5 and 87.2 ± 23.7 µM, 127 ± 35 and 112 ± 35% for the MODS group (P < 0.05. Thus, colon contractility was decreased in MODS, a result possibly related to reduced calcium concentration and IP3 in SMC.

  18. An Increased Risk of Osteoporosis during Acquired Immunodeficiency Syndrome.

    Science.gov (United States)

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

    2004-01-01

    Osteoporosis is characterized by decreased bone mineral density and mechanistic imbalances of bone tissue that may result in reduced skeletal strength and an enhanced susceptibility to fractures. Osteoporosis in its most common form affects the elderly (both sexes) and all racial groups of human beings. Multiple environmental risk factors like acquired immune deficiency syndrome (AIDS) are believed to be one of the causes of osteoporosis. Recently a high incidence of osteoporosis has been observed in human immunodeficiency virus (HIV) infected individuals. The etiology of this occurrence in HIV infections is controversial. This problem seems to be more frequent in patients receiving potent antiretroviral therapy. In AIDS, the main suggested risk factors for the development of osteoporosis are use of protease inhibitors, longer duration of HIV infection, lower body weight before antiretroviral therapy, high viral load. Variations in serum parameters like osteocalcin, c-telopeptide, levels of elements like Calcium, Magnesium, Phosphorus, concentration of vitamin-D metabolites, lactate levels, bicarbonate concentrations, amount of alkaline phosphatase are demonstrated in the course of development of osteoporosis. OPG/RANKL/RANK system is final mediator of bone remodeling. Bone mineral density (BMD) test is of added value to assess the risk of osteoporosis in patients infected with AIDS. The biochemical markers also aid in this assessment. Clinical management mostly follows the lines of treatment of osteoporosis and osteopenia.

  19. Hepatic microvascular dysfunction and increased advanced glycation end products are components of non-alcoholic fatty liver disease.

    Science.gov (United States)

    Pereira, Evelyn Nunes Goulart da Silva; Silvares, Raquel Rangel; Flores, Edgar Eduardo Ilaquita; Rodrigues, Karine Lino; Ramos, Isalira Peroba; da Silva, Igor José; Machado, Marcelo Pelajo; Miranda, Rosiane Aparecida; Pazos-Moura, Carmen Cabanelas; Gonçalves-de-Albuquerque, Cassiano F; Faria-Neto, Hugo Caire de Castro; Tibiriça, Eduardo; Daliry, Anissa

    2017-01-01

    This study aimed to investigate the pathophysiology of hepatic microcirculatory dysfunction in non-alcoholic fatty liver disease (NAFLD). In Wistar rats, NAFLD model was induced by 20 weeks of high-fat diet (HFD) feeding. Rolling and adhesion of leukocytes and tissue perfusion in hepatic microcirculation were examined using in vivo microscopic and laser speckle contrast imaging (LSCI), respectively. Oxidative stress and inflamatory parameters were analysed by TBARs, catalase enzyme activity, RT-PCR and ELISA. The participation of advanced glycation end-products (AGE) and its receptor RAGE was evaluated by the measurement of gene and protein expression of RAGE by RT-PCR and Western-blot, respectively and by liver and serum quantification of fluorescent AGEs. Wistar rats fed high-fat diet (HFD) showed increase in epididymal and abdominal fat content, systolic arterial blood pressure, fasting blood glucose levels, hepatic triglycerides and cholesterol, and impairment of glucose and insulin metabolisms. Liver histology confirmed the presence of steatosis and ultrasound analysis revealed increased liver size and parenchymal echogenicity in HFD-fed rats. HFD causes significant increases in leukocyte rolling and adhesion on hepatic microcirculation and decrease in liver microvascular blood flow. Liver tissue presented increase in oxidative stress and inflammtion. At 20 weeks, there was a significantly increase in AGE content in the liver and serum of HFD-fed rats and an increase in RAGE gene expression in the liver. The increase in liver AGE levels and microcirculatory disturbances could play a role in the pathogenesis of liver injury and are key components of NAFLD.

  20. Tetrahydrocannabinol Induces Brain Mitochondrial Respiratory Chain Dysfunction and Increases Oxidative Stress: A Potential Mechanism Involved in Cannabis-Related Stroke

    Directory of Open Access Journals (Sweden)

    Valérie Wolff

    2015-01-01

    Full Text Available Cannabis has potential therapeutic use but tetrahydrocannabinol (THC, its main psychoactive component, appears as a risk factor for ischemic stroke in young adults. We therefore evaluate the effects of THC on brain mitochondrial function and oxidative stress, key factors involved in stroke. Maximal oxidative capacities Vmax (complexes I, III, and IV activities, Vsucc (complexes II, III, and IV activities, Vtmpd (complex IV activity, together with mitochondrial coupling (Vmax/V0, were determined in control conditions and after exposure to THC in isolated mitochondria extracted from rat brain, using differential centrifugations. Oxidative stress was also assessed through hydrogen peroxide (H2O2 production, measured with Amplex Red. THC significantly decreased Vmax (−71%; P<0.0001, Vsucc (−65%; P<0.0001, and Vtmpd (−3.5%; P<0.001. Mitochondrial coupling (Vmax/V0 was also significantly decreased after THC exposure (1.8±0.2 versus 6.3±0.7; P<0.001. Furthermore, THC significantly enhanced H2O2 production by cerebral mitochondria (+171%; P<0.05 and mitochondrial free radical leak was increased from 0.01±0.01 to 0.10±0.01% (P<0.001. Thus, THC increases oxidative stress and induces cerebral mitochondrial dysfunction. This mechanism may be involved in young cannabis users who develop ischemic stroke since THC might increase patient’s vulnerability to stroke.

  1. Assessing Metabolic Syndrome Through Increased Heart Rate During Exercise

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    Masoumeh Sadeghi

    2016-12-01

    Full Text Available The present study aimed to assess changes in resting and maximum heart rates as primary indicators of cardiac autonomic function in metabolic syndrome (MetS patients and to determine their value for discriminating MetS from non-MetS. 468 participants were enrolled in this cross-sectional study and assessed according to the updated adult treatment panel III (ATP-III definition of MetS. Resting and maximum heart rates were recorded following the Bruce protocol during an exercise. A receiver operating characteristic (ROC curve was used to identify the best cutoff point for discriminating MetS from the non-MetS state. 194 participants (41.5% were diagnosed as MetS. The mean resting heart rate (RHR was not statistically different between the two groups (P=0.078. However, the mean maximum heart (MHR rate was considerably higher in participants with MetS (142.37±14.84 beats per min compared to the non-MetS group (134.62±21.63 beats per min (P<0.001. In the MetS group, the MHR was positively correlated with the serum triglyceride level (β=0.185, P=0.033 and was inversely associated with age (β=-0.469, P<0.001. The MHR had a moderate value for discriminating MetS from the non-MetS state (c=0.580, P=0.004 with the optimal cutoff point of 140 beats per min. In MetS patients, the MHR was significantly greater compared to non-MetS subjects and was directly correlated with serum triglyceride levels and inversely with advanced age. Moreover, MHR can be used as a suspicious indicator for identifying MetS.

  2. Increased risk for irritable bowel syndrome after acute diverticulitis.

    Science.gov (United States)

    Cohen, Erica; Fuller, Garth; Bolus, Roger; Modi, Rusha; Vu, Michelle; Shahedi, Kamyar; Shah, Rena; Atia, Mary; Kurzbard, Nicole; Sheen, Victoria; Agarwal, Nikhil; Kaneshiro, Marc; Yen, Linnette; Hodgkins, Paul; Erder, M Haim; Spiegel, Brennan

    2013-12-01

    Individuals with diverticulosis frequently also have irritable bowel syndrome (IBS), but there are no longitudinal data to associate acute diverticulitis with subsequent IBS, functional bowel disorders, or related emotional distress. In patients with postinfectious IBS, gastrointestinal disorders cause long-term symptoms, so we investigated whether diverticulitis might lead to IBS. We compared the incidence of IBS and functional bowel and related affective disorders among patients with diverticulitis. We performed a retrospective study of patients followed up for an average of 6.3 years at a Veteran's Administration medical center. Patients with diverticulitis were identified based on International Classification of Diseases, 9th revision codes, selected for the analysis based on chart review (cases, n = 1102), and matched with patients without diverticulosis (controls, n = 1102). We excluded patients with prior IBS, functional bowel, or mood disorders. We then identified patients who were diagnosed with IBS or functional bowel disorders after the diverticulitis attack, and controls who developed these disorders during the study period. We also collected information on mood disorders, analyzed survival times, and calculated adjusted hazard ratios. Cases were 4.7-fold more likely to be diagnosed later with IBS (95% confidence interval [CI], 1.6-14.0; P = .006), 2.4-fold more likely to be diagnosed later with a functional bowel disorder (95% CI, 1.6-3.6; P mood disorder (CI, 1.4-3.5; P IBS and functional bowel disorders. We propose calling this disorder postdiverticulitis IBS. Diverticulitis appears to predispose patients to long-term gastrointestinal and emotional symptoms after resolution of inflammation; in this way, postdiverticulitis IBS is similar to postinfectious IBS. Copyright © 2013 AGA Institute. Published by Elsevier Inc. All rights reserved.

  3. Increased gut permeability and microbiota change associate with mesenteric fat inflammation and metabolic dysfunction in diet-induced obese mice.

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    Yan Y Lam

    Full Text Available We investigated the relationship between gut health, visceral fat dysfunction and metabolic disorders in diet-induced obesity. C57BL/6J mice were fed control or high saturated fat diet (HFD. Circulating glucose, insulin and inflammatory markers were measured. Proximal colon barrier function was assessed by measuring transepithelial resistance and mRNA expression of tight-junction proteins. Gut microbiota profile was determined by 16S rDNA pyrosequencing. Tumor necrosis factor (TNF-α and interleukin (IL-6 mRNA levels were measured in proximal colon, adipose tissue and liver using RT-qPCR. Adipose macrophage infiltration (F4/80⁺ was assessed using immunohistochemical staining. HFD mice had a higher insulin/glucose ratio (P = 0.020 and serum levels of serum amyloid A3 (131%; P = 0.008 but reduced circulating adiponectin (64%; P = 0.011. In proximal colon of HFD mice compared to mice fed the control diet, transepithelial resistance and mRNA expression of zona occludens 1 were reduced by 38% (P<0.001 and 40% (P = 0.025 respectively and TNF-α mRNA level was 6.6-fold higher (P = 0.037. HFD reduced Lactobacillus (75%; P<0.001 but increased Oscillibacter (279%; P = 0.004 in fecal microbiota. Correlations were found between abundances of Lactobacillus (r = 0.52; P = 0.013 and Oscillibacter (r = -0.55; P = 0.007 with transepithelial resistance of the proximal colon. HFD increased macrophage infiltration (58%; P = 0.020, TNF-α (2.5-fold, P<0.001 and IL-6 mRNA levels (2.5-fold; P = 0.008 in mesenteric fat. Increased macrophage infiltration in epididymal fat was also observed with HFD feeding (71%; P = 0.006 but neither TNF-α nor IL-6 was altered. Perirenal and subcutaneous adipose tissue showed no signs of inflammation in HFD mice. The current results implicate gut dysfunction, and attendant inflammation of contiguous adipose, as salient features of the metabolic dysregulation of diet-induced obesity.

  4. Morbid obesity and metabolic syndrome in Ossabaw miniature swine are associated with increased platelet reactivity

    Directory of Open Access Journals (Sweden)

    Rolf P Kreutz

    2011-03-01

    Full Text Available Rolf P Kreutz1,2, Mouhamad Alloosh3, Khaled Mansour1, Zachary Neeb3, Yvonne Kreutz2, David A Flockhart2, Michael Sturek31Krannert Institute of Cardiology, 2Division of Clinical Pharmacology, 3Department of Cellular and Integrative Physiology, Indiana University School of Medicine, IN, USABackground: Metabolic syndrome (MetS and type 2 diabetes mellitus in humans are associated with increased platelet activation and hyperreactivity of platelets to various agonists. Ossabaw swine develop all the hallmarks of MetS including obesity, insulin resistance, hypertension, dyslipidemia, endothelial dysfunction, and coronary artery disease when being fed excess calorie atherogenic diet. We hypothesized that Ossabaw swine with MetS would exhibit increased platelet reactivity compared with lean pigs without MetS.Materials and methods: Ossabaw swine were fed high caloric, atherogenic diet for 44 weeks to induce MetS (n = 10 and were compared with lean controls without MetS that had been fed normal calorie standard diet (n = 10. Light transmittance aggregometry was performed using adenosine diphosphate (ADP, collagen, thrombin, and arachidonic acid (AA at different concentrations. Dose response curves and EC50 were calculated. Glucose tolerance testing and intravascular ultrasound study of coronary arteries were performed.Results: MetS pigs compared with lean controls were morbidly obese, showed evidence of arterial hypertension, elevated cholesterol, low-density lipoprotein/high-density lipoprotein, and triglycerides, and insulin resistance. Platelets from MetS pigs were more sensitive to ADP-induced platelet aggregation than leans (EC50: 1.83 ± 1.3 µM vs 3.64 ± 2.2 µM; P = 0.02. MetS pigs demonstrated higher platelet aggregation in response to collagen than lean pigs (area under the curve: 286 ± 74 vs 198 ± 123; P = 0.037 and a trend for heightened response to AA (AUC: 260 ± 151 vs 178 ± 145; P = 0.13. No significant difference was found for platelet

  5. Long-term testosterone treatment in elderly men with hypogonadism and erectile dysfunction reduces obesity parameters and improves metabolic syndrome and health-related quality of life.

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    Yassin, Dany-Jan; Doros, Gheorghe; Hammerer, Peter G; Yassin, Aksam A

    2014-06-01

    Late-onset hypogonadism (LOH) is diagnosed when declining testosterone concentrations in the aging male cause unwanted symptoms such as erectile dysfunction (ED), reduced bone density and muscle strength, and increased visceral obesity. Testosterone deficiency is also associated with insulin resistance and the metabolic syndrome (MetS). Restoring testosterone to physiological concentrations has beneficial effects on many of these symptoms; however, it is not known whether these effects can be sustained in the long term. To investigate whether treatment with testosterone undecanoate (TU) has a long-term and sustained effect on parameters affected by the MetS in men with LOH and ED, to determine whether long-term testosterone treatment can improve the overall health-related quality of life in these men, and to establish the safety of long-term testosterone treatment. Two hundred sixty-one patients (mean age 59.5 ± 8.4 years) diagnosed with LOH and ED were treated with long-acting TU in a prospective, observational, and longitudinal registry study. Men received intramuscular injections of 1,000 mg TU at day 1, at week 6, and every 3 months thereafter. Parameters affected by the MetS, including obesity parameters (body weight, waist circumference, and body mass index [BMI]), total cholesterol, low-density lipoprotein (LDL), high-density lipoprotein (HDL), triglycerides, glucose, HbA1c (glycated hemoglobin), and blood pressure, as well as total testosterone levels and health-related quality of life, were assessed. We found TU significantly improved obesity parameters (body weight, waist circumference, and BMI) and lowered total cholesterol, LDL cholesterol, triglycerides, fasting blood glucose, HbA1c , and blood pressure over the 5-year study. HDL cholesterol was increased. TU treatment resulted in a sustained improvement in erectile function and muscle and joint pain, which contributed to an improvement in long-term health-related quality of life. Furthermore

  6. Increasing Self-Esteem in Children, 8-12 Years Old from Dysfunctional Families: A Twofold Solution to a Twofold Problem.

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    Riley, George M.

    This practicum was designed to increase the self-esteem of children between the ages of 8 and 12 from dysfunctional families. The strategies implemented involved working with the parents of these children to help increase positive communication and relationships between parents and their children. Based on the idea that self-esteem is a reciprocal…

  7. Association of bone morphogenetic protein 6 with exocrine gland dysfunction in patients with Sjögren's syndrome and in mice.

    Science.gov (United States)

    Yin, Hongen; Cabrera-Perez, Javier; Lai, Zhenan; Michael, Drew; Weller, Melodie; Swaim, William D; Liu, Xibao; Catalán, Marcelo A; Rocha, Eduardo M; Ismail, Nevien; Afione, Sandra; Rana, Noreen A; Di Pasquale, Giovanni; Alevizos, Ilias; Ambudkar, Indu; Illei, Gabor G; Chiorini, John A

    2013-12-01

    Primary Sjögren's syndrome (SS) is characterized by autoimmune activation and loss of function in secretory epithelia. The present study was undertaken to investigate and characterize changes in the epithelia associated with the loss of gland function in primary SS. To identify changes in epithelial gene expression, custom microarrays were probed with complementary RNA (cRNA) isolated from minor salivary glands (MSGs) of female patients with primary SS who had low focus scores and low salivary flow rates, and the results were compared with those obtained using cRNA from the MSGs of sex-matched healthy volunteers. The effect of bone morphogenetic protein 6 (BMP-6) on salivary gland function was tested using adeno-associated virus-mediated gene transfer to the salivary glands of C57BL/6 mice. A significant increase in expression of BMP-6 was observed in RNA isolated from SS patients compared with healthy volunteers. Overexpression of BMP-6 locally in the salivary or lacrimal glands of mice resulted in the loss of fluid secretion as well as changes in the connective tissue of the salivary gland. Assessment of the fluid movement in either isolated acinar cells from mice overexpressing BMP-6 or a human salivary gland cell line cultured with BMP-6 revealed a loss in volume regulation in these cells. Lymphocytic infiltration in the submandibular gland of BMP-6 vector-treated mice was increased. No significant changes in the production of proinflammatory cytokines or autoantibodies associated with SS (anti-Ro/SSA and anti-La/SSB) were found after BMP-6 overexpression. In addition to identifying BMP-6 expression in association with xerostomia and xerophthalmia in primary SS, the present results suggest that BMP-6-induced salivary and lacrimal gland dysfunction in primary SS is independent of the autoantibodies and immune activation associated with the disease. Published 2013. This article is a U.S. Government work and is in the public domain in the USA.

  8. Association of Bone Morphogenetic Protein 6 With Exocrine Gland Dysfunction in Patients With Sjögren’s Syndrome and in Mice

    Science.gov (United States)

    Yin, Hongen; Cabrera-Perez, Javier; Lai, Zhenan; Michael, Drew; Weller, Melodie; Swaim, William D.; Liu, Xibao; Catalán, Marcelo A.; Rocha, Eduardo M.; Ismail, Nevien; Afione, Sandra; Rana, Noreen A.; Di Pasquale, Giovanni; Alevizos, Ilias; Ambudkar, Indu; Illei, Gabor G.; Chiorini, John A.

    2014-01-01

    Objective Primary Sjögren’s syndrome (SS) is characterized by autoimmune activation and loss of function in secretory epithelia. The present study was undertaken to investigate and characterize changes in the epithelia associated with the loss of gland function in primary SS. Methods To identify changes in epithelial gene expression, custom microarrays were probed with complementary RNA (cRNA) isolated from minor salivary glands (MSGs) of female patients with primary SS who had low focus scores and low salivary flow rates, and the results were compared with those obtained using cRNA from the MSGs of sex-matched healthy volunteers. The effect of bone morphogenetic protein 6 (BMP-6) on salivary gland function was tested using adeno-associated virus–mediated gene transfer to the salivary glands of C57BL/6 mice. Results A significant increase in expression of BMP-6 was observed in RNA isolated from SS patients compared with healthy volunteers. Overexpression of BMP-6 locally in the salivary or lacrimal glands of mice resulted in the loss of fluid secretion as well as changes in the connective tissue of the salivary gland. Assessment of the fluid movement in either isolated acinar cells from mice overexpressing BMP-6 or a human salivary gland cell line cultured with BMP-6 revealed a loss in volume regulation in these cells. Lymphocytic infiltration in the submandibular gland of BMP-6 vector–treated mice was increased. No significant changes in the production of proinflammatory cytokines or autoantibodies associated with SS (anti-Ro/SSA and anti-La/SSB) were found after BMP-6 overexpression. Conclusion In addition to identifying BMP-6 expression in association with xerostomia and xerophthalmia in primary SS, the present results suggest that BMP-6–induced salivary and lacrimal gland dysfunction in primary SS is independent of the autoantibodies and immune activation associated with the disease. PMID:23982860

  9. Uric acid as a link between renal dysfunction and both pro-inflammatory and prothrombotic state in patients with metabolic syndrome and coronary artery disease.

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    Zapolski, Tomasz; Waciński, Piotr; Kondracki, Bartosz; Rychta, Elżbieta; Buraczyńska, Monika J; Wysokiński, Andrzej

    2011-01-01

    Hyperuricaemia has long been known to be associated with cardiovascular disease, and it is particularly common in patients with kidney disease, metabolic syndrome and diabetes mellitus. Metabolic syndrome is associated with pro-inflammatory and prothrombotic state. To examine the association between renal function, serum uric acid and markers of both pro-inflammatory and prothrombotic state in patients with diabetes mellitus (DM), metabolic syndrome and coronary artery disease. The study population consisted of 91 patients (58 men, 33 women) aged 57.6 ± 10.3 years with metabolic syndrome and type 2 DM. Patients were selected from a large group of patients scheduled for routine coronary angiography between 2006 and 2009. The patients were evaluated for the common risk factors for atherosclerosis: smoking, hypertension, DM, family history and hyperlipidaemia. Laboratory tests included complete blood counts, serum urea and creatinine, aminotransferases, C-reactive protein (CRP), fibrinogen, uric acid, total cholesterol, LDL-cholesterol, HDL-cholesterol, triglycerides, fasting glucose, glycated haemoglobin (HbA1c), glomerular filtration rate (GFR) and urinary protein. We also measured body mass, height, waist circumference, hip circumference and calculated body mass index (BMI) and waist-to-hip ratio (WHR). The following significant correlations were observed: body mass vs serum creatinine (r = 0.291; p = 0.009), WHR vs serum creatinine (r = 0.672; p uric acid (r = -0.341; p = 0.001), WHR vs uric acid (r = 0.295; p = 0.05), BMI vs CRP (r = 0.231; p = 0.031), WHR vs CRP (r = 0.236; p = 0.024), serum creatinine vs uric acid (r = 0.362; p uric acid (r = -0.341; p = 0.001), uric acid vs CRP (r = 0.251; p = 0.016), CRP vs fibrinogen (r = 0.470; p uric acid level was independently associated with WHR, GFR and CRP. In patients with ischaemic heart disease, DM and metabolic syndrome, obesity, particularly visceral obesity, is associated with renal dysfunction and elevated

  10. Female offspring born to obese and insulin-resistant dams are not at increased risk for obesity and metabolic dysfunction during early development.

    Science.gov (United States)

    Aburasayn, Hanin; Al Batran, Rami; Gopal, Keshav; Almutairi, Malak; Eshreif, Amina; Eaton, Farah; Ussher, John R

    2018-01-01

    The percentage of women who are obese at the time of conception or during pregnancy is increasing, with animal and human studies demonstrating that offspring born to obese dams or mothers are at increased risk for obesity and the metabolic syndrome. Our goal was to confirm in an experimental model of metabolic syndrome in the dam, whether the offspring would be at increased risk of obesity. Conversely, we observed that male offspring born to dams with metabolic syndrome had no alterations in their body mass profiles, whereas female offspring born to dams with metabolic syndrome were heavier at weaning, but exhibited no perturbations in energy metabolism. Moreover, they gained weight at a reduced rate versus female offspring born to healthy dams, and thus weighed less at study completion. Hence, our findings suggest that factors other than increased adiposity and insulin resistance during pregnancy are responsible for the increased risk of obesity in children born to obese mothers.

  11. Increased prevalence of nocturnal smoking in restless legs syndrome (RLS).

    Science.gov (United States)

    Provini, F; Antelmi, E; Vignatelli, L; Zaniboni, A; Naldi, G; Calandra-Buonaura, G; Vetrugno, R; Plazzi, G; Pizza, F; Montagna, P

    2010-02-01

    We investigated the prevalence of nocturnal smoking (NS) in patients with RLS. One hundred RLS patients living in Emilia-Romagna (Northern Italy) and 100 matched controls, randomly selected from the general population, underwent interviews for the presence of nocturnal smoking and for obsessive-compulsive traits, depression, excessive daytime sleepiness (EDS) and subjective sleep quality. NS was more prevalent in RLS patients than controls (lifetime prevalence: 12% vs. 2%, P=0.012). Patients with NS had more frequently Sleep-Related Eating Disorders (SRED) than patients without NS (83.3% vs. 26.1%, P=0.0002). Pathological and borderline Maudsley Obsessive-Compulsive Inventory (MOCI) values as well as pathological values at the Beck Depression Inventory (BDI) increased from controls to RLS patients without NS to RLS patients with NS (P=0.005 and P=0.01, respectively). We demonstrate an increased prevalence of NS in patients with RLS, in many cases associated with increased SRED. NS may be associated with psychopathological traits in RLS and may be relevant in the management of RLS patients. 2009 Elsevier B.V. All rights reserved.

  12. Prehospital immune responses and development of multiple organ dysfunction syndrome following traumatic injury: A prospective cohort study.

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    Jon Hazeldine

    2017-07-01

    Full Text Available Almost all studies that have investigated the immune response to trauma have analysed blood samples acquired post-hospital admission. Thus, we know little of the immune status of patients in the immediate postinjury phase and how this might influence patient outcomes. The objective of this study was therefore to comprehensively assess the ultra-early, within 1-hour, immune response to trauma and perform an exploratory analysis of its relationship with the development of multiple organ dysfunction syndrome (MODS.The immune and inflammatory response to trauma was analysed in 89 adult trauma patients (mean age 41 years, range 18-90 years, 75 males with a mean injury severity score (ISS of 24 (range 9-66, from whom blood samples were acquired within 1 hour of injury (mean time to sample 42 minutes, range 17-60 minutes. Within minutes of trauma, a comprehensive leukocytosis, elevated serum pro- and anti-inflammatory cytokines, and evidence of innate cell activation that included neutrophil extracellular trap generation and elevated surface expression of toll-like receptor 2 and CD11b on monocytes and neutrophils, respectively, were observed. Features consistent with immune compromise were also detected, notably elevated numbers of immune suppressive CD16BRIGHT CD62LDIM neutrophils (82.07 x 106/l ± 18.94 control versus 1,092 x 106/l ± 165 trauma, p < 0.0005 and CD14+HLA-DRlow/- monocytes (34.96 x 106/l ± 4.48 control versus 95.72 x 106/l ± 8.0 trauma, p < 0.05 and reduced leukocyte cytokine secretion in response to lipopolysaccharide stimulation. Exploratory analysis via binary logistic regression found a potential association between absolute natural killer T (NKT cell numbers and the subsequent development of MODS. Study limitations include the relatively small sample size and the absence of data relating to adaptive immune cell function.Our study highlighted the dynamic and complex nature of the immune response to trauma, with immune

  13. Ethinylestradiol30μg-drospirenone and metformin: could this combination improve endothelial dysfunction in polycystic ovary syndrome?

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    Ilie Ioana

    2012-06-01

    Full Text Available Abstract Background We are hereby investigating for the first time the effect of the association ethinylestradiol30μg-drospirenone 3mg (DRP/EE30μg plus metformin and weight loss on endothelial status and C-reactive protein (hsCRP levels in polycystic ovary syndrome (PCOS. Methods 25 young women with PCOS (mean age 22.76 ± 0.83 years, body mass index (BMI: 28.44 ± 6.23 who completed the study were prospectively evaluated. The oral contraceptive- DRP/EE30μg (21 days/month and metformin (1700 mg daily were administered for 6 months to the PCOS group. Additionally, the 15 overweight and obese patients (BMI > 25 kg/m2 were instructed in a diet of no more than 1500 cal daily. Primary outcome measures were surrogate markers of cardiovascular disease and included endothelial function, i.e. flow-mediated dilatation (FMD on the brachial artery and endothelin-1 levels, as well as hsCRP concentrations, body composition (measured by whole-body dual-energy X-ray-absorptiometry and insulin resistance. Variables were assessed at baseline, as well as after our medical intervention. Results The combination between DRP/EE30μg plus metformin combined with weight loss triggered a significant improvement in the FMD values (FMD-PCOSbasal 3.48 ± 1.00 vs FMD-PCOS6 months7.43 ± 1.04, p = 0.033, as well as body composition and insulin insensitivity (p 6months – PCOSbasal difference. Conclusion A 6-month course of metformin- DRP/EE30μg (associated with weight loss improves the endothelial dysfunction in PCOS and shows neutral effects on hsCRP concentrations as an inflammation marker. These data demand for reevaluation of the medical therapy in PCOS, particularly in women with additional metabolic and cardiovascular risk factors (ClinicalTrials.gov Identifier: NCT01459445.

  14. Chronic fatigue syndrome: assessment of increased oxidative stress and altered muscle excitability in response to incremental exercise.

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    Jammes, Y; Steinberg, J G; Mambrini, O; Brégeon, F; Delliaux, S

    2005-03-01

    Because the muscle response to incremental exercise is not well documented in patients suffering from chronic fatigue syndrome (CFS), we combined electrophysiological (compound-evoked muscle action potential, M wave), and biochemical (lactic acid production, oxidative stress) measurements to assess any muscle dysfunction in response to a routine cycling exercise. This case-control study compared 15 CFS patients to a gender-, age- and weight-matched control group (n=11) of healthy subjects. All subjects performed an incremental cycling exercise continued until exhaustion. We measured the oxygen uptake (VO2), heart rate (HR), systemic blood pressure, percutaneous O2 saturation (SpO2), M-wave recording from vastus lateralis, and venous blood sampling allowing measurements of pH (pHv), PO2 (PvO2), lactic acid (LA), and three markers of the oxidative stress (thiobarbituric acid-reactive substances, TBARS, reduced glutathione, GSH, and ascorbic acid, RAA). Compared with control, in CFS patients (i) the slope of VO2 versus work load relationship did not differ from control subjects and there was a tendency for an accentuated PvO2 fall at the same exercise intensity, indicating an increased oxygen uptake by the exercising muscles; (ii) the HR and blood pressure responses to exercise did not vary; (iii) the anaerobic pathways were not accentuated; (iv) the exercise-induced oxidative stress was enhanced with early changes in TBARS and RAA and enhanced maximal RAA consumption; and (v) the M-wave duration markedly increased during the recovery period. The response of CFS patients to incremental exercise associates a lengthened and accentuated oxidative stress together with marked alterations of the muscle membrane excitability. These two objective signs of muscle dysfunction are sufficient to explain muscle pain and postexertional malaise reported by our patients.

  15. Pacemaker syndrome with sub-acute left ventricular systolic dysfunction in a patient with a dual-chamber pacemaker: consequence of lead switch at the header.

    Science.gov (United States)

    Khurwolah, Mohammad Reeaze; Vezi, Brian Zwelethini

    In the daily practice of pacemaker insertion, the occurrence of atrial and ventricular lead switch at the pacemaker box header is a rare and unintentional phenomenon, with less than five cases reported in the literature. The lead switch may have dire consequences, depending on the indication for the pacemaker. One of these consequences is pacemaker syndrome, in which the normal sequence of atrial and ventricular activation is impaired, leading to sub-optimal ventricular filling and cardiac output. It is important for the attending physician to recognise any worsening of symptoms in a patient who has recently had a permanent pacemaker inserted. In the case of a dual-chamber pacemaker, switching of the atrial and ventricular leads at the pacemaker box header should be strongly suspected. We present an unusual case of pacemaker syndrome and right ventricular-only pacinginduced left ventricular systolic dysfunction in a patient with a dual-chamber pacemaker.

  16. Is disomic homozygosity at the APECED locus the cause of increased autoimmunity in Down's syndrome?

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    Shield, J.; Wadsworth, E.; Hassold, T.; Judis, L. A.; Jacobs, P.

    1999-01-01

    AIMS—To examine the age of onset of insulin dependent diabetes mellitus (IDDM) in children with Down's syndrome compared with non-trisomic individuals, and to assess whether differences might be related to disomic homozygosity at the autoimmune polyglandular disease type 1 (APECED) gene locus.
METHODS—Children with Down's syndrome and IDDM were identified through the Down's syndrome association newsletter and from paediatricians. DNA was extracted from mouthbrush preparations provided by the parents and patients using standard techniques. Mapping techniques were then used to identify areas of reduction to homozygosity, including a marker that overlaps the locus for APECED. The frequency of disomic homozygosity for all markers (n = 18) was compared with a control group of 99 patients with Down's syndrome and their parents. The families also answered a questionnaire concerning diabetes and related autoimmune conditions in the family. Details were compared with the British Paediatric Surveillance Group 1988diabetes study.
RESULTS—Children with Down's syndrome and IDDM were diagnosed significantly earlier than the general population (6.7 v 8.0 years) with a far higher proportion diagnosed in the first 2 years of life (22% v 7%). There was no evidence of increased disomic homozygosity in the region of the APECED locus in Down's syndrome patients with IDDM compared with simple Down's syndrome.
CONCLUSIONS—The natural history of IDDM in Down's syndrome is different from that of the general population. Although children with Down's syndrome have features similar to cases of APECED, disomic homozygosity in this region does not explain the predilection for autoimmune disease.

 PMID:10490523

  17. Gugulipid causes hypercholesterolemia leading to endothelial dysfunction, increased atherosclerosis, and premature death by ischemic heart disease in male mice.

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    Andrea Leiva

    Full Text Available For proper cholesterol metabolism, normal expression and function of scavenger receptor class B type I (SR-BI, a high-density lipoprotein (HDL receptor, is required. Among the factors that regulate overall cholesterol homeostasis and HDL metabolism, the nuclear farnesoid X receptor plays an important role. Guggulsterone, a bioactive compound present in the natural product gugulipid, is an antagonist of this receptor. This natural product is widely used globally as a natural lipid-lowering agent, although its anti-atherogenic cardiovascular benefit in animal models or humans is unknown. The aim of this study was to determine the effects of gugulipid on cholesterol homeostasis and development of mild and severe atherosclerosis in male mice. For this purpose, we evaluated the impact of gugulipid treatment on liver histology, plasma lipoprotein cholesterol, endothelial function, and development of atherosclerosis and/or ischemic heart disease in wild-type mice; apolipoprotein E knockout mice, a model of atherosclerosis without ischemic complications; and SR-B1 knockout and atherogenic-diet-fed apolipoprotein E hypomorphic (SR-BI KO/ApoER61h/h mice, a model of lethal ischemic heart disease due to severe atherosclerosis. Gugulipid administration was associated with histological abnormalities in liver, increased alanine aminotransferase levels, lower hepatic SR-BI content, hypercholesterolemia due to increased HDL cholesterol levels, endothelial dysfunction, enhanced atherosclerosis, and accelerated death in animals with severe ischemic heart disease. In conclusion, our data show important adverse effects of gugulipid intake on HDL metabolism and atherosclerosis in male mice, suggesting potential and unknown deleterious effects on cardiovascular health in humans. In addition, these findings reemphasize the need for rigorous preclinical and clinical studies to provide guidance on the consumption of natural products and regulation of their use in the

  18. Depletion of Tip60 from In Vivo Cardiomyocytes Increases Myocyte Density, Followed by Cardiac Dysfunction, Myocyte Fallout and Lethality.

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    Joseph B Fisher

    Full Text Available Tat-interactive protein 60 (Tip60, encoded by the Kat5 gene, is a member of the MYST family of acetyltransferases. Cancer biology studies have shown that Tip60 induces the DNA damage response, apoptosis, and cell-cycle inhibition. Although Tip60 is expressed in the myocardium, its role in cardiomyocytes (CMs is unclear. Earlier studies here showed that application of cardiac stress to globally targeted Kat5+/-haploinsufficient mice resulted in inhibition of apoptosis and activation of the CM cell-cycle, despite only modest reduction of Tip60 protein levels. It was therefore of interest to ascertain the effects of specifically and substantially depleting Tip60 from CMs using Kat5LoxP/-;Myh6-Cre mice in the absence of stress. We report initial findings using this model, in which the effects of specifically depleting Tip60 protein from ventricular CMs, beginning at early neonatal stages, were assessed in 2-12 week-old mice. Although 5'-bromodeoxyuridine immunostaining indicated that CM proliferation was not altered at any of these stages, CM density was increased in 2 week-old ventricles, which persisted in 4 week-old hearts when TUNEL staining revealed inhibition of apoptosis. By week 4, levels of connexin-43 were depleted, and its patterning was dysmorphic, concomitant with an increase in cardiac hypertrophy marker expression and interstitial fibrosis. This was followed by systolic dysfunction at 8 weeks, after which extensive apoptosis and CM fallout occurred, followed by lethality as mice approached 12 weeks of age. In summary, chronic depletion of Tip60 from the ventricular myocardium beginning at early stages of neonatal heart development causes CM death after 8 weeks; hence, Tip60 protein has a crucial function in the heart.

  19. Erectile dysfunction, loss of libido and low sexual frequency increase the risk of cardiovascular disease in men with low testosterone.

    Science.gov (United States)

    Ho, Chen-Hsun; Wu, Chia-Chang; Chen, Kuan-Chou; Jaw, Fu-Shan; Yu, Hong-Jeng; Liu, Shih-Ping

    2016-06-01

    Testosterone deficiency increases the cardiovascular disease (CVD) risk. To evaluate the effect of erectile dysfunction (ED), sexual frequency and hypogonadal symptoms on CVD risk. A total of 395 hypogonadal men aged 45-74 years were surveyed using the Androgen Deficiency in the Aging Male and the International Index of Erectile Function. The 10-year CVD risk was measured with the Framingham Risk Score. Logistic regression was performed to obtain the odds ratios of sexual function and hypogonadal symptoms for a 10-year CVD risk ≥20% (high risk). The mean age was 56.1 ± 6.7 years. The mean 10-year CVD risk of the whole cohort was 18.1% ± 11.4%, while 131 subjects (33.2%) were classified as high risk. Logistic regression revealed that ED severity was associated with CVD risk [OR = 2.37 (CI 1.24-4.51) for mild-to-moderate ED, OR = 4.39 (1.78-8.43) for moderate ED and OR = 12.81 (4.65-26.11) for severe ED]. Compared to sexual frequency libido [OR = 2.95 (1.91-4.12)] and less strong erection [OR = 3.87 (CI 2.11-4.95)] increased the risk of high CVD risk. All remained significant after adjustment for age and testosterone. ED, decreased sexual frequency and loss of libido predict a high 10-year CVD risk in hypogonadal men.

  20. Systemic inflammatory response syndrome increases immobility-induced neuromuscular weakness.

    Science.gov (United States)

    Fink, Heidrun; Helming, Marc; Unterbuchner, Christoph; Lenz, Andrea; Neff, Frauke; Martyn, J A Jeevendra; Blobner, Manfred

    2008-03-01

    Inflammation and immobility are comorbid etiological factors inducing muscle weakness in critically ill patients. This study establishes a rat model to examine the effect of inflammation and immobilization alone and in combination on muscle contraction, histology, and acetylcholine receptor regulation. Prospective, randomized, experimental study. Animal laboratory of a university hospital. Sprague-Dawley rats. To produce systemic inflammation, rats (n = 34) received three consecutive intravenous injections of Corynebacterium parvum on days 0, 4, and 8. Control rats (n = 21) received saline. Both groups were further divided to have one hind limb either immobilized by pinning of knee and ankle joints or sham-immobilized (surgical leg). The contralateral nonsurgical leg of each animal served as control (nonsurgical leg). After 12 days, body weight and muscle mass were significantly reduced in all C. parvum animals compared with saline-injected rats. Immobilization led to local muscle atrophy. Normalized to muscle mass, tetanic contraction was reduced in the surgical leg after immobilization (7.64 +/- 1.91 N/g) and after inflammation (8.71 +/- 2.0 N/g; both p < .05 vs. sham immobilization and saline injection, 11.03 +/- 2.26 N/g). Histology showed an increase in inflammatory cells in all C. parvum-injected animals. Immobilization in combination with C. parvum injection had an additive effect on inflammation. Acetylcholine receptors were increased in immobilized muscles and in all muscles of C. parvum-injected animals. The muscle weakness in critically ill patients can be replicated in our novel rat model. Inflammation and immobilization independently lead to muscle weakness.

  1. Postanesthetic temporomandibular joint dysfunction.

    Science.gov (United States)

    Knibbe, M. A.; Carter, J. B.; Frokjer, G. M.

    1989-01-01

    Internal derangements, myofascial pain dysfunction, and chronic dislocation of the temporomandibular joint (TMJ) are three common sequelae resulting from mandibular trauma. Etiologic factors include prolonged dental and otolaryngologic procedures, and intraoperative use of the laryngoscope and bronchoscope. Three cases are reported to document postanesthetic TMJ dysfunction arising from normal preoperative joints. Four types of TMJ dysfunction are discussed: anterior meniscus dislocation with reduction, anterior meniscus dislocation without reduction, dislocation/subluxation of the mandibular condyle, and myofascial pain dysfunction syndrome. Preoperative screening of mandibular function is recommended in identifying patients as either normal or having potential TMJ dysfunction. Failure to recognize postoperative TMJ dysfunction can lead to long-term symptoms that are difficult to alleviate. Litigation is a common sequel in these cases. Images Figure 3 PMID:2604053

  2. Increased Serum Levels of Uric Acid Are Associated with Sudomotor Dysfunction in Subjects with Type 2 Diabetes Mellitus

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    N. Papanas

    2011-01-01

    Full Text Available The aim of this paper was to assess serum uric acid (SUA levels in patients with type 2 diabetes mellitus (T2DM with or without sudomotor dysfunction (evaluated by the Neuropad test. We included 36 T2DM patients with sudomotor dysfunction (group A: mean age 63.1±2.6 years and 40 age-, gender-, renal function- and T2DM duration-matched patients without sudomotor dysfunction (group B: mean age 62.1±3.1 years. SUA was significantly higher in group A (P<0.001. There was a significant correlation between SUA and Neuropad time to colour change in both groups (group A: rs=0.819, P<0.001; group B: rs=0.774, P<0.001. There was also a significant positive correlation between SUA and CRP in both groups (group A: rs=0.947, P<0.001; group B: rs=0.848, P<0.001. In conclusion, SUA levels were higher in T2DM patients with sudomotor dysfunction than those without this complication. The potential role of SUA in sudomotor dysfunction merits further study.

  3. Chronic hyperandrogenemia and western-style diet beginning at puberty reduces fertility and increases metabolic dysfunction during pregnancy in young adult, female macaques.

    Science.gov (United States)

    Bishop, C V; Stouffer, R L; Takahashi, D L; Mishler, E C; Wilcox, M C; Slayden, O D; True, C A

    2018-02-01

    What are the impacts of elevated testosterone (T) and an obesogenic western-style diet (WSD), either independently or together, on fertility and metabolic adaptations of pregnancy in primates? Testosterone increases the time to achieve pregnancy, while a WSD reduces overall fertility, and the combination of testosterone and WSD additionally impairs glucose tolerance and causes pregnancy loss. Both hyperandrogenemia and obesity are hallmarks of polycystic ovary syndrome, which is a leading cause of infertility among women worldwide. Female macaques receiving T and WSD beginning at puberty show increased metabolic, ovarian and uterine dysfunction in the non-pregnant state by 3 years of treatment. The same cohort of female rhesus macaques continued treatments from the time of puberty (2.5 years) to 4 years, including this fertility trial. There were four groups (n = 9-10/group): controls (C), T-treated (T; average total serum level 1.35 ng/ml), WSD-treated, and combined T and WSD-treated (T + WSD) females. Females, which were typically having menstrual cycles, were paired for 4 days with a proven male breeder following the late follicular rise in circulating estradiol (≥100 pg/ml). The presence of sperm in the reproductive tract was used to confirm mating. Animals went through up to three successive rounds of mating until they became pregnant, as confirmed by a rise in circulating mCG during the late luteal phase and ultrasound evidence of a gestational sac at Day 30 post-mating (GD30). Placental vascular parameters were also measured at GD30. Metabolic measurements consisted of fasting levels of blood glucose and insulin at approximately GD30, 60, 90 and 115, as well as an intravenous (iv) glucose tolerance test (GTT) at GD115. While all animals in the C and T groups eventually became pregnant, T-treated females on average had a greater interval to achieve pregnancy (P C, T or WSD. Placental blood volume at GD30 was reduced in all treatments compared to the C group

  4. Diabetes and sexual dysfunction: current perspectives

    Directory of Open Access Journals (Sweden)

    Maiorino MI

    2014-03-01

    Full Text Available Maria Ida Maiorino,1 Giuseppe Bellastella,1 Katherine Esposito2 1Department of Medical, Surgical, Neurological, Metabolic and Geriatric Sciences, Second University of Naples, Naples, Italy; 2Department of Clinical and Experimental Medicine, Second University of Naples, Naples, Italy Abstract: Diabetes mellitus is one of the most common chronic diseases in nearly all countries. It has been associated with sexual dysfunction, both in males and in females. Diabetes is an established risk factor for sexual dysfunction in men, as a threefold increased risk of erectile dysfunction was documented in diabetic men, as compared with nondiabetic men. Among women, evidence regarding the association between diabetes and sexual dysfunction are less conclusive, although most studies have reported a higher prevalence of female sexual dysfunction in diabetic women as compared with nondiabetic women. Female sexual function appears to be more related to social and psychological components than to the physiological consequence of diabetes. Hyperglycemia, which is a main determinant of vascular and microvascular diabetic complications, may participate in the pathogenetic mechanisms of sexual dysfunction in diabetes. Moreover, diabetic people may present several clinical conditions, including hypertension, overweight and obesity, metabolic syndrome, cigarette smoking, and atherogenic dyslipidemia, which are themselves risk factors for sexual dysfunction, both in men and in women. The adoption of healthy lifestyles may reduce insulin resistance, endothelial dysfunction, and oxidative stress – all of which are desirable achievements in diabetic patients. Improved well-being may further contribute to reduce and prevent sexual dysfunction in both sexes. Keywords: diabetes mellitus, diabetes complications, erectile dysfunction, female sexual dysfunction, lifestyle changes

  5. Fitness attenuates the prevalence of increased coronary artery calcium in individuals with metabolic syndrome.

    Science.gov (United States)

    Ekblom-Bak, Elin; Ekblom, Örjan; Fagman, Erika; Angerås, Oskar; Schmidt, Caroline; Rosengren, Annika; Börjesson, Mats; Bergström, Göran

    2018-02-01

    Background The association between cardiorespiratory fitness, physical activity and coronary artery calcium (CAC) is unclear, and whether higher levels of fitness attenuate CAC prevalence in subjects with metabolic syndrome is not fully elucidated. The present study aims to: a) investigate the independent association of fitness on the prevalence of CAC, after adjustment for moderate-to-vigorous physical activity and sedentary time, and b) study the possible attenuation of increased CAC by higher fitness, in participants with metabolic syndrome. Design Cross-sectional. Methods In total 678 participants (52% women), 50-65 years old, from the SCAPIS pilot study were included. Fitness (VO 2 max) was estimated by submaximal cycle ergometer test and moderate-to-vigorous physical activity and sedentary time were assessed using hip-worn accelerometers. CAC score (CACS) was quantified using the Agatston score. Results The odds of having a significant CACS (≥100) was half in participants with moderate/high fitness compared with their low fitness counterparts. Further consideration of moderate-to-vigorous physical activity, sedentary time and number of components of the metabolic syndrome did only slightly alter the effect size. Those with metabolic syndrome had 47% higher odds for significant CAC compared with those without metabolic syndrome. However, moderate/high fitness seems to partially attenuate this risk, as further joint analysis indicated an increased odds for having significant CAC only in the unfit metabolic syndrome participants. Conclusions Being fit is associated with a reduced risk of having significant CAC in individuals with metabolic syndrome. While still very much underutilized, fitness should be taken into consideration in everyday clinical risk prediction in addition to the traditional risk factors of the metabolic syndrome.

  6. Myostatin dysfunction impairs force generation in extensor digitorum longus muscle and increases exercise-induced protein efflux from extensor digitorum longus and soleus muscles.

    Science.gov (United States)

    Baltusnikas, Juozas; Kilikevicius, Audrius; Venckunas, Tomas; Fokin, Andrej; Bünger, Lutz; Lionikas, Arimantas; Ratkevicius, Aivaras

    2015-08-01

    Myostatin dysfunction promotes muscle hypertrophy, which can complicate assessment of muscle properties. We examined force generating capacity and creatine kinase (CK) efflux from skeletal muscles of young mice before they reach adult body and muscle size. Isolated soleus (SOL) and extensor digitorum longus (EDL) muscles of Berlin high (BEH) mice with dysfunctional myostatin, i.e., homozygous for inactivating myostatin mutation, and with a wild-type myostatin (BEH+/+) were studied. The muscles of BEH mice showed faster (P < 0.01) twitch and tetanus contraction times compared with BEH+/+ mice, but only EDL displayed lower (P < 0.05) specific force. SOL and EDL of age-matched but not younger BEH mice showed greater exercise-induced CK efflux compared with BEH+/+ mice. In summary, myostatin dysfunction leads to impairment in muscle force generating capacity in EDL and increases susceptibility of SOL and EDL to protein loss after exercise.

  7. Endothelial Dysfunction Plays a Key Role in Increasing Cardiovascular Risk in Type 2 Diabetes The Hoorn Study

    NARCIS (Netherlands)

    van Sloten, T.T.; Henry, R.M.A.; Dekker, J.M.; Nijpels, G.; Unger, T.; Schram, M.T.; Stehouwer, C.D.A.

    2014-01-01

    In the pathogenesis of cardiovascular events, interaction between risk factors has seldom been identified. However, endothelial dysfunction on the one hand and type 2 diabetes mellitus, impaired glucose metabolism (IGM), and insulin resistance on the other may act synergistically (ie, interact) in

  8. Chronic pelvic floor dysfunction.

    Science.gov (United States)

    Hartmann, Dee; Sarton, Julie

    2014-10-01

    The successful treatment of women with vestibulodynia and its associated chronic pelvic floor dysfunctions requires interventions that address a broad field of possible pain contributors. Pelvic floor muscle hypertonicity was implicated in the mid-1990s as a trigger of major chronic vulvar pain. Painful bladder syndrome, irritable bowel syndrome, fibromyalgia, and temporomandibular jaw disorder are known common comorbidities that can cause a host of associated muscular, visceral, bony, and fascial dysfunctions. It appears that normalizing all of those disorders plays a pivotal role in reducing complaints of chronic vulvar pain and sexual dysfunction. Though the studies have yet to prove a specific protocol, physical therapists trained in pelvic dysfunction are reporting success with restoring tissue normalcy and reducing vulvar and sexual pain. A review of pelvic anatomy and common findings are presented along with suggested physical therapy management. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. Executive Dysfunction

    Science.gov (United States)

    Rabinovici, Gil D.; Stephens, Melanie L.; Possin, Katherine L.

    2015-01-01

    Purpose of Review: Executive functions represent a constellation of cognitive abilities that drive goal-oriented behavior and are critical to the ability to adapt to an ever-changing world. This article provides a clinically oriented approach to classifying, localizing, diagnosing, and treating disorders of executive function, which are pervasive in clinical practice. Recent Findings: Executive functions can be split into four distinct components: working memory, inhibition, set shifting, and fluency. These components may be differentially affected in individual patients and act together to guide higher-order cognitive constructs such as planning and organization. Specific bedside and neuropsychological tests can be applied to evaluate components of executive function. While dysexecutive syndromes were first described in patients with frontal lesions, intact executive functioning relies on distributed neural networks that include not only the prefrontal cortex, but also the parietal cortex, basal ganglia, thalamus, and cerebellum. Executive dysfunction arises from injury to any of these regions, their white matter connections, or neurotransmitter systems. Dysexecutive symptoms therefore occur in most neurodegenerative diseases and in many other neurologic, psychiatric, and systemic illnesses. Management approaches are patient specific and should focus on treatment of the underlying cause in parallel with maximizing patient function and safety via occupational therapy and rehabilitation. Summary: Executive dysfunction is extremely common in patients with neurologic disorders. Diagnosis and treatment hinge on familiarity with the clinical components and neuroanatomic correlates of these complex, high-order cognitive processes. PMID:26039846

  10. Increased inflammation and lower platelet 5-HT in depression with metabolic syndrome.

    Science.gov (United States)

    Silić, Ante; Karlović, Dalibor; Serretti, Alessandro

    2012-12-01

    Recent studies suggest comorbidity between major depressive disorder (MDD) and metabolic syndrome. For both disorders, impaired serotoninergic neurotransmission and inflammatory factors have been suggested. The objective of this study was to investigate the concentration of platelet serotonin, interleukin-6 (IL-6) and C-reactive protein (CRP) in MDD patients with and without metabolic syndrome. The second goal was to investigate the association of the concentrations of platelet serotonin, IL-6 and CRP with individual components of metabolic syndrome in MDD patients. A total of 145 MDD patients were included in the study (diagnosed according DSM IV TR criteria). The metabolic syndrome was defined according to the criteria of the American National Cholesterol Education Program-Treatment Panel III (ATP III). Inflammation factors (IL-6 and CRP) and platelet serotonin concentration were assessed by the enzyme-linked immunosorbent assay (ELISA). MDD patients with metabolic syndrome showed lower platelet serotonin and higher IL-6 and CRP concentrations when compared to MDD patients without metabolic syndrome. An inverse correlation was found between platelet serotonin and waist circumference and serum glucose levels. A positive correlation was found between IL-6 and glucose or triglyceride concentrations, while the correlation with HDL cholesterol was negative. Data on dietary habits or physical activity prior to hospitalisation were not collected. Also, the study was a cross-sectional without a prospective design. Metabolic syndrome in patients with MDD may be associated with reduced concentrations of platelet serotonin and increased concentrations of IL-6 and CRP. Copyright © 2012 Elsevier B.V. All rights reserved.

  11. Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome.

    NARCIS (Netherlands)

    Boparai, K.S.; Reitsma, J.B.; Lemmens, V.; Os, T.A. van; Mathus-Vliegen, E.M.H.; Koornstra, J.J.; Nagengast, F.M.; Hest, L.P. van; Keller, J.J.; Dekker, E. den

    2010-01-01

    INTRODUCTION: Hyperplastic polyposis syndrome (HPS) is characterised by the presence of multiple colorectal hyperplastic polyps and is associated with an increased colorectal cancer (CRC) risk. For first-degree relatives of HPS patients (FDRs) this has not been adequately quantified. Reliable

  12. Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome

    NARCIS (Netherlands)

    Boparai, K. S.; Lemmens, V.; van Os, T. A. M.; Mathus-Vliegen, E. M. H.; Koornstra, J. J.; Nagengast, F. M.; van Hest, L. P.; Keller, J. J.; Dekker, E.; Reitsma, J.

    Introduction Hyperplastic polyposis syndrome (HPS) is characterised by the presence of multiple colorectal hyperplastic polyps and is associated with an increased colorectal cancer (CRC) risk. For first-degree relatives of HPS patients (FDRs) this has not been adequately quantified. Reliable

  13. Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome

    NARCIS (Netherlands)

    Boparai, K. S.; Reitsma, J. B.; Lemmens, V.; van Os, T. A. M.; Mathus-Vliegen, E. M. H.; Koornstra, J. J.; Nagengast, F. M.; van Hest, L. P.; Keller, J. J.; Dekker, E.

    2010-01-01

    Introduction Hyperplastic polyposis syndrome (HPS) is characterised by the presence of multiple colorectal hyperplastic polyps and is associated with an increased colorectal cancer (CRC) risk. For first-degree relatives of HPS patients (FDRs) this has not been adequately quantified. Reliable

  14. Slow motor performance in girls with Turner syndrome is not related to increased neuromotor noise

    NARCIS (Netherlands)

    Nijhuis-Van der Sanden, M.W.G.; Asseldonk, E.H.F. van; Eling, P.A.T.M.; Galen, G.P. van

    2003-01-01

    This study examined the relationship between decreased speed-accuracy trade-off and increased neuromotor noise in girls with Turner Syndrome (TS). #$$# Fifteen TS girls and 15 age-matched controls performed isometric force contractions with both index fingers separately at five force levels based on

  15. Using Percentile Schedules to Increase Eye Contact in Children with Fragile X Syndrome

    Science.gov (United States)

    Hall, Scott S.; Maynes, Natalee P.; Reiss, Allan L.

    2009-01-01

    Aversion to eye contact is a common behavior of individuals diagnosed with Fragile X syndrome (FXS); however, no studies to date have attempted to increase eye-contact duration in these individuals. In this study, we employed a percentile reinforcement schedule with and without overcorrection to shape eye-contact duration of 6 boys with FXS.…

  16. Pioglitazone treatment increases spontaneous growth hormone (GH) secretion and stimulated GH levels in polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Glintborg, Dorte; Støving, René Klinkby; Hagen, Claus

    2005-01-01

    BACKGROUND: Low GH levels, probably due to insulin resistance and increased abdominal fat mass, are well described in polycystic ovary syndrome (PCOS). GH acts as an important ovarian cogonadotropin, and GH disturbances may be an additional pathogenic factor in PCOS. Decreased abdominal fat mass...

  17. A Combined Training Intervention Programme Increases Lean Mass in Youths with Down Syndrome

    Science.gov (United States)

    Gonzalez-Aguero, Alejandro; Vicente-Rodriguez, German; Gomez-Cabello, Alba; Ara, Ignacio; Moreno, Luis A.; Casajus, Jose A.

    2011-01-01

    Aim: The present study aimed to determine whether youths with Down syndrome (DS) are able to increase lean mass and decrease fat mass, after 21 weeks of conditioning combined with a plyometric jumps training program. Methods: Twenty-six participants with DS (15 males) aged 10-19 years joined the study. Participants were divided into two comparable…

  18. Human papillomavirus vaccines, complex regional pain syndrome, postural orthostatic tachycardia syndrome, and autonomic dysfunction - a review of the regulatory evidence from the European Medicines Agency

    DEFF Research Database (Denmark)

    Jefferson, Tom; Jørgensen, Lars

    2017-01-01

    Recent concerns about a possible association between exposure of young women to human papillomavirus (HPV) vaccines and two "dysautonomic syndromes" (a collection of signs and symptoms thought to be caused by autoimmunity) - complex regional pain syndrome (CRPS) and postural orthostatic tachycard...

  19. Does Restless Legs Syndrome increase cardiovascular risk in Attention-Deficit/Hyperactivity Disorder?

    Science.gov (United States)

    Angriman, Marco; Bruni, Oliviero; Cortese, Samuele

    2013-01-01

    Preliminary evidence suggests a possible association between Attention-Deficit/Hyperactivity Disorder and Restless Legs Syndrome with or without Periodic Limb Movements during Sleep. When comorbid, Restless Legs Syndrome/Periodic Limb Movements during Sleep might aggravate Attention-Deficit/Hyperactivity Disorder symptoms. Pharmacological treatment of Attention-Deficit/Hyperactivity Disorder may be associated, at least in some cases, with adverse cardiovascular events, including clinically significant elevation in heart rate and systemic blood pressure. However, the characteristics of patients with Attention-Deficit/Hyperactivity Disorder at risk for cardiovascular events during pharmacological treatment are poorly understood. Here, we hypothesize that Restless Legs Syndrome and/or Periodic Limb Movements during Sleep comorbid with Attention-Deficit/Hyperactivity Disorder increase cardiovascular risk via imbalance in activity of the autonomic nervous system. Such an imbalance of the could be related to alterations of sleep microarchitecture also detected by cyclic alternating pattern analysis. If empirical studies confirm our hypothesis, the clinician would be advised to systematically screen for and effectively treat Restless Legs Syndrome/Periodic Limb Movements during Sleep even before starting treatment with Attention-Deficit/Hyperactivity Disorder drugs. The management of Restless Legs Syndrome/Periodic Limb Movements during Sleep might reduce cardiovascular risk during pharmacological treatment of Attention-Deficit/Hyperactivity Disorder. Copyright © 2012 Elsevier Ltd. All rights reserved.

  20. [Change in gene expression of inflammation-related genes induced in multiple organ dysfunction syndrome induced by infection of injuries in rat].

    Science.gov (United States)

    Ban, Yu; Shen, Hong; Li, Tan-shi

    2007-03-01

    To study the changes in inflammation-related gene expression in liver tissue during the course of multiple organ dysfunction syndrome (MODS) induced by infection of injuries and its implication. The rats model with MODS following trauma and infection was reproduced in rat. Liver tissue was harvested. The differences of gene expressions between the simple trauma group and MODS group were detected by means of cDNA microarray. Comparison between the two groups, differentially expressed genes included enhanced expression of genes related both of tissue damage and repair. There was also up-regulation of expression of both inflammation-related and anti-inflammation related genes. A few genes appeared down-regulated. The differences of expression extent were significant. There were up-regulation of some genes related to apoptosis and fibrosis. Differential expressions of genes in the liver tissue include both that related to the inflammation and anti-inflammation, with down-regulation and up-regulation at the same time. There is a difference in the intensity. There is also an expression of genes related to intrinsic protection, as manifested by co-existence of systemic inflammatory response syndrome (SIRS) and compensation anti-inflammatory response syndrome (CARS) under the condition of MODS. There is an imbalance in inflammatory reaction. The simultaneous up-regulation of the tissue damage and repair related genes suggests that cellular injury is accompanied by repair in the organs during the course of MODS.

  1. Dysfunctional Epstein-Barr virus (EBV)-specific CD8(+) T lymphocytes and increased EBV load in HIV-1 infected individuals progressing to AIDS-related non-Hodgkin lymphoma

    NARCIS (Netherlands)

    van Baarle, D; Hovenkamp, E; Callan, M F; Wolthers, K C; Kostense, S; Tan, L C; Niesters, H G; Osterhaus, A D; McMichael, A J; van Oers, M H; Miedema, F

    2001-01-01

    Acquired immunodeficiency syndrome-related non-Hodgkin lymphomas (AIDS-NHL) are thought to arise because of loss of Epstein-Barr Virus (EBV)-specific cellular immunity. Here, an investigation was done to determine whether cellular immunity to EBV is lost because of physical loss or dysfunction of

  2. Increased dairy consumption differentially improves metabolic syndrome markers in male and female adults.

    Science.gov (United States)

    Dugan, Christine E; Barona, Jacqueline; Fernandez, Maria Luz

    2014-02-01

    Effects of dairy consumption on metabolic health and adiposity are inconsistent. Most clinical trials have investigated dairy intake, frequently during caloric restriction, in overweight or obese populations but not in a metabolic syndrome population. We investigated the effect of increased dairy intake without caloric restriction on anthropometrics, plasma lipids, and glucose in typically low-dairy consumers who met the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) metabolic syndrome criteria. Male (n=14) and female (n=23) adults (54.1 ± 9.7 years) with metabolic syndrome were randomized to consume low-fat dairy (LFD) (10 oz of 1% milk, 6 oz of nonfat yogurt, 4 oz of 2% cheese) or carbohydrate control (CNT) (1.5-oz granola bar and 12 oz of 100% juice) foods for 6 weeks in a crossover study design. Anthropometrics, metabolic syndrome parameters, insulin resistance, and parathyroid hormone were measured. Body composition was analyzed by a dual-energy X-ray absorptiometry scan for a subset of subjects (n=22). LFD modulated metabolic syndrome parameters differently according to gender. Following LFD, men had lower glucose (95.4 ± 9.1 vs. 98.9 ± 10.6 mg/dL, P=0.048), whereas women had lower body weight (BW), waist circumference, and body mass index (P<0.01) compared to CNT. Women also had lower energy intake following LFD compared to CNT. Increases in phosphorus (a dairy nutrient) were negatively correlated with decreases in BW (r=-0.537; P<0.01) and body fat in women (r=-0.593, P<0.025), whereas the decreases in energy intake had no correlation with anthropometrics. Three dairy servings/day promoted small but significant improvements differentially by gender in a metabolic syndrome population.

  3. The increasing incidence of initial steroid resistance in childhood nephrotic syndrome.

    Science.gov (United States)

    Banaszak, Beata; Banaszak, Paweł

    2012-06-01

    Recently, a number of reports have highlighted changes in the histopathology and response to corticosteroid treatment in childhood nephrotic syndrome; however, these involved ethnically mixed populations. For comparison, the purpose of our research was to search for changes in the characteristics of nephrotic syndrome in a homogeneous population of Caucasian children over two consecutive decades. Chart analysis was performed to identify children with new-onset nephrotic syndrome. The children were admitted to the Division of Pediatric Nephrology, Zabrze, during two periods: 1986-1995 (76 patients) and 1996-2005 (102 patients). Specifically, a comparison of clinical characteristics and morphology of nephrotic syndrome between the two groups was performed. Steroid resistance was defined as no remission within 8 weeks of corticosteroid treatment. Histopathology was available in 36.8% and 43.1% of patients respectively. There was a significant increase in primary steroid resistance in the latter decade: 15.8% vs 31.4% (P = 0.017). Changes in the histopathology did not reach the level of statistical significance: minimal change nephrotic syndrome 25% vs 9% (P = 0.095), mesangial proliferative glomerulonephritis 46.4% vs 61.3% (P = 0.21), focal segmental glomerulosclerosis 17.9% vs 20.4% (P = 0.78), membranoproliferative glomerulonephritis 7.1% vs 6.8% (P = 1.0), membranous glomerulonephritis 3.6% vs 0% (P = 0.39). Our results show the increasing incidence of primary steroid resistance in childhood nephrotic syndrome.

  4. Adipocyte dysfunction in a mouse model of polycystic ovary syndrome (PCOS: evidence of adipocyte hypertrophy and tissue-specific inflammation.

    Directory of Open Access Journals (Sweden)

    Joseph S Marino

    Full Text Available Clinical research shows an association between polycystic ovary syndrome (PCOS and chronic inflammation, a pathological state thought to contribute to insulin resistance. The underlying pathways, however, have not been defined. The purpose of this study was to characterize the inflammatory state of a novel mouse model of PCOS. Female mice lacking leptin and insulin receptors in pro-opiomelanocortin neurons (IR/LepR(POMC mice and littermate controls were evaluated for estrous cyclicity, ovarian and adipose tissue morphology, and body composition by QMR and CT scan. Tissue-specific macrophage infiltration and cytokine mRNA expression were measured, as well as circulating cytokine levels. Finally, glucose regulation during pregnancy was evaluated as a measure of risk for diabetes development. Forty-five percent of IR/LepR(POMC mice showed reduced or absent ovulation. IR/LepR(POMC mice also had increased fat mass and adipocyte hypertrophy. These traits accompanied elevations in macrophage accumulation and inflammatory cytokine production in perigonadal adipose tissue, liver, and ovary. These mice also exhibited gestational hyperglycemia as predicted. This report is the first to show the presence of inflammation in IR/LepR(POMC mice, which develop a PCOS-like phenotype. Thus, IR/LepR(POMC mice may serve as a new mouse model to clarify the involvement of adipose and liver tissue in the pathogenesis and etiology of PCOS, allowing more targeted research on the development of PCOS and potential therapeutic interventions.

  5. Association of increased triglyceride levels in metabolic syndrome with coronary artery disease

    International Nuclear Information System (INIS)

    Helvaci, M.R.; Kaya, H.; Gundogdu, M.

    2010-01-01

    Objective: We tried to understand significance of increased triglyceride (TG) values in metabolic syndrome and coronary artery disease (CAD). Methodology: Check up cases with a TG value lower than 60 mg/dL were collected into the first, between 60 and 99 mg/dL into the second, between 100 and 149 mg/dL into the third, between 150 and 199 into the fourth, and 200 mg/dL and greater into the fifth groups. Results: Study included 478 cases. Values of the mean age, weight, body mass index, TG, and low density lipoprotein cholesterol (LDL-C) and prevalence of smoking, white coat hypertension (WCH), hypertension (HT), type 2 diabetes mellitus (DM), and CAD increased gradually and significantly nearly in all steps from the first towards the fifth groups. Conclusion: Metabolic syndrome may be a progression step between complete physical health and irreversible end points, such as obesity, type 2 DM, HT, CAD, and stroke. Hypertriglyceridemia and White Coat Hypertension (WCH) may be the most significant reversible parameters of the syndrome, and it is better to have the lowest TG value as much as possible. The most significant increase was seen after the value of 100 mg/dL. The overweight, smoking, hypertriglyceridemia, hyperbetalipoproteinemia, and WCH may only be one of hundreds of parameters of the syndrome. Therefore, it is advisable that underlying etiologies rather than reversible parameters of the syndrome should be targeted for treatment. For example, increased TG and LDL-C values, and prevalence of WCH by aging may be secondary to decreased physical and mental stresses in elderly. (author)

  6. Extended daily veno-venous high-flux haemodialysis in patients with acute renal failure and multiple organ dysfunction syndrome using a single path batch dialysis system.

    Science.gov (United States)

    Lonnemann, G; Floege, J; Kliem, V; Brunkhorst, R; Koch, K M

    2000-08-01

    In the treatment of acute renal failure in patients with multiple organ dysfunction syndrome (MODS), continuous renal replacement therapies (CRRT) are increasingly used because of excellent volume control in the presence of improved cardiovascular stability. Patients with MODS, however, are frequently catabolic and have a high urea generation rate requiring either cost-intensive high-volume CRRT or additional intermittent haemodialysis to provide adequate clearance of small-molecular waste products. We tested the closed-loop batch haemodialysis system (called Genius((R))) for the treatment of acute renal failure in patients with MODS in the intensive care unit. Blood flow and countercurrent dialysate flow were reduced to 70 ml/min. Thus the 75 l dialysate tank of the Genius((R)) system lasts for 18 h of extended single-path high-flux haemodialysis (18 h-HFD) using polysulphous F60 S((R)) dialysers. Blood pressure, body temperature, and venous blood temperature in the extracorporeal circuit (no heating of the dialysate), ultrafiltration rate, serum urea levels, dialyser urea clearance, and total urea removal were monitored. In addition we tested the bacteriological quality of the spent dialysate at the end of 18-h treatments. Twenty patients with acute renal failure and MODS were investigated. Averaged dialyser urea clearance was 59.8 ml/min (equal to 3.6 l/h or 64.8 l/day). Total removal of urea was 14.1+/-6.5 g/day keeping serum levels of urea below 13 mmol/l. Mean arterial pressure remained stable during the 18-h treatments with a mean ultrafiltration rate of 120 ml/h. The temperature in the venous blood tubing dropped by 5+/-0.5 degrees C during the 18-h treatment (0.28 degrees C/h) in the presence of unchanged core temperature in the patients. There was no bacterial growth in 2.5 l of spent dialysate (dialysis using the Genius((R)) system combines the benefits of CRRT (good cardiovascular stability, sterile dialysate) with the advantages of intermittent

  7. Mucocele of the appendix in a 77-year-old man with calcinosis, Raynaud’s phenomenon, esophageal dysfunction, sclerodactyly and telangiectasias syndrome

    Directory of Open Access Journals (Sweden)

    Hanen Loukil

    2016-08-01

    Full Text Available Mucocele is an uncommon pathology of the vermiform appendix estimated to be seen in 0.2-0.3%. The term mucocele means dilation of the appendix due to mucus, caused either by a benign or a malignant process. Herein, we report the case of a 77-year-old man with Calcinosis, Raynaud’s phenomenon, Esophageal dysfunction, Sclerodactyly and Telangiectasias syndrome, a limited form of Scleroderma, who had presented an abdominal cyclical pain and in which abdominopelvic computed tomography scan concluded to the diagnosis of appendiceal mucocele. Surgery and histopathology confirmed the diagnosis of mucinous cystadenoma. This association appendiceal mucocele and scleoderma has not been previously reported. The clinical and radiological features of this unusual complication are reviewed.

  8. Co-administration of vancomycin and piperacillin-tazobactam is associated with increased renal dysfunction in adult and pediatric burn patients.

    Science.gov (United States)

    Hundeshagen, Gabriel; Herndon, David N; Capek, Karel D; Branski, Ludwik K; Voigt, Charles D; Killion, Elizabeth A; Cambiaso-Daniel, Janos; Sljivich, Michaela; De Crescenzo, Andrew; Mlcak, Ronald P; Kinsky, Michael P; Finnerty, Celeste C; Norbury, William B

    2017-12-20

    Burn patients are prone to infections which often necessitate broad antibiotic coverage. Vancomycin is a common antibiotic after burn injury and is administered alone (V), or in combination with imipenem-cilastin (V/IC) or piperacillin-tazobactam (V/PT). Sparse reports indicate that the combination V/PT is associated with increased renal dysfunction. The purpose of this study was to evaluate the short-term impact of the three antibiotic administration types on renal dysfunction. All pediatric and adult patients admitted to our centers between 2004 and 2016 with a burn injury were included in this retrospective review if they met the criteria of exposition to either V, V/IC, or V/PT for at least 48 h, had normal baseline creatinine, and no pre-existing renal dysfunction. Creatinine was monitored for 7 days after initial exposure; the absolute and relative increase was calculated, and patient renal outcomes were classified according to the Kidney Disease Improving Global Outcomes (KDIGO) criteria depending on creatinine increases and estimated creatinine clearance. Secondary endpoints (demographic and clinical data, incidences of septicemia, and renal replacement therapy) were analyzed. Antibiotic doses were modeled in logistic and linear multivariable regression models to predict categorical KDIGO events and relative creatinine increase. Out of 1449 patients who were screened, 718 met the inclusion criteria, 246 were adults, and 472 were children. Between the study cohorts V, V/IC, and V/PT, patient characteristics at admission were comparable. V/PT administration was associated with a statistically higher serum creatinine, and lower creatinine clearance compared to patients receiving V alone or V/IC in adults and children after burn injury. The incidence of KDIGO stages 1, 2, and 3 was higher after V/PT treatment. In children, the incidence of KDIGO stage 3 following administration of V/PT was greater than after V/IC. In adults, the incidence of renal replacement

  9. Evaluation of Salivary Gland Dysfunction Using Salivary Gland Scintigraphy in Sjoegren's Syndrome Patients and in Thyroid Cancer Patients after Radioactive Iodine Therapy

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Ji Yeon; Jang, Su Jin; Lee, Won Woo; Jang, Sung June; Lee, Yun Jong; Kim, Sang Eun [Seoul National Univ., Seoul (Korea, Republic of)

    2011-09-15

    Salivary gland scintigraphy (SGS) provides an objective means of diagnosing salivary gland dysfunction in Sjogren's syndrome (SS) patients and in thyroid cancer patients after radioactive iodine (RAI) therapy. In the present study, SGS was performed in SS patients and in thyroid cancer patients post RAI, and scintigraphic parameters were compared. Twenty eight SS patients (males:females=1:27, age 53.3{+-}11.9 years), 28 controls (males:females=3.25, age 54.1{+-}10.1 years), and 92 thyroid cancer patients (males:females=28:64, age 46.2{+-}12.9) who had undergone a session of high dose RAI therapy (mean dose, 5.2{+-}1.5 GBq) were included. SGS was performed using Tc 99m pertechnetate (925MBq). Scintigraphic parameters (parotid uptake ratio PU, submandibular uptake ratio SU, percent age parotid excretion %PE, and percentage submandibular excretion %SE) were measured and compared for SS, thyroid cancer post RAI, and control patients. PU, SU, %SE, and %PE were all significantly lower in SS than in post RAI thyroid cancer of control patients (p<0.05), whereas only %PE was significantly lower in post RAI thyroid cancer patients than in controls (P<0.05). SU and %SE were found to be correlated with the unstimulated whole salivary flow rate. Scintigraphic parameters derived from SGS can play a crucial role in the detection of salivary gland dysfunction in SS patients and in post RAI thyroid cancer patients.

  10. Increased systemic Th17 cytokines are associated with diastolic dysfunction in children and adolescents with diabetic ketoacidosis.

    Directory of Open Access Journals (Sweden)

    William H Hoffman

    Full Text Available Diastolic dysfunction suggestive of diabetic cardiomyopathy is established in children with T1DM, but its pathogenesis is not well understood. We studied the relationships of systemic inflammatory cytokines/chemokines and cardiac function in 17 children with T1DM during and after correction of diabetic ketoacidosis (DKA. Twenty seven of the 39 measured cytokines/chemokines were elevated at 6-12 hours into treatment of DKA compared to values after DKA resolution. Eight patients displayed at least one parameter of diastolic abnormality (DA during acute DKA. Significant associations were present between nine of the cytokine/chemokine levels and the DA over time. Interestingly, four of these nine interactive cytokines (GM-CSF, G-CSF, IL-12p40, IL-17 are associated with a Th17 mediated cell response. Both the DA and CCL7 and IL-12p40, had independent associations with African American patients. Thus, we report occurrence of a systemic inflammatory response and the presence of cardiac diastolic dysfunction in a subset of young T1DM patients during acute DKA.

  11. Inhibition of c-Jun-N-terminal kinase increases cardiac peroxisome proliferator-activated receptor alpha expression and fatty acid oxidation and prevents lipopolysaccharide-induced heart dysfunction.

    Science.gov (United States)

    Drosatos, Konstantinos; Drosatos-Tampakaki, Zoi; Khan, Raffay; Homma, Shunichi; Schulze, P Christian; Zannis, Vassilis I; Goldberg, Ira J

    2011-10-21

    Septic shock results from bacterial infection and is associated with multi-organ failure, high mortality, and cardiac dysfunction. Sepsis causes both myocardial inflammation and energy depletion. We hypothesized that reduced cardiac energy production is a primary cause of ventricular dysfunction in sepsis. The JNK pathway is activated in sepsis and has also been implicated in impaired fatty acid oxidation in several tissues. Therefore, we tested whether JNK activation inhibits cardiac fatty acid oxidation and whether blocking JNK would restore fatty acid oxidation during LPS treatment. LPS treatment of C57BL/6 mice and adenovirus-mediated activation of the JNK pathway in cardiomyocytes inhibited peroxisome proliferator-activated receptor α expression and fatty acid oxidation. Surprisingly, none of the adaptive responses that have been described in other types of heart failure, such as increased glucose utilization, reduced αMHC:βMHC ratio or induction of certain microRNAs, occurred in LPS-treated mice. Treatment of C57BL/6 mice with a general JNK inhibitor (SP600125) increased fatty acid oxidation in mice and a cardiomyocyte-derived cell line. JNK inhibition also prevented LPS-mediated reduction in fatty acid oxidation and cardiac dysfunction. Inflammation was not alleviated in LPS-treated mice that received the JNK inhibitor. We conclude that activation of JNK signaling reduces fatty acid oxidation and prevents the peroxisome proliferator-activated receptor α down-regulation that occurs with LPS.

  12. Loss of PKCδ results in characteristics of Sjögren’s syndrome including salivary gland dysfunction

    OpenAIRE

    Banninger, Gregg P.; Cha, Seunghee; Said, M Sherif; Pauley, Kaleb M.; Carter, Cristan J.; Ornate, Mairelys; Pauley, Brad A.; Anderson, Steven M.; Reyland, Mary E.

    2011-01-01

    Chronic infiltration of lymphocytes into the salivary and lacrimal glands of Sjögren’s Syndrome patients leads to destruction of acinar cells and loss of exocrine function. Protein kinase C-delta (PKCδ) is known to play a critical role in B cell maintenance. Mice in which the PKCδ gene has been disrupted have a loss of B cell tolerance, multiple organ lymphocytic infiltration, and altered apoptosis. To determine if PKCδ contributes to the pathogenesis of Sjögren’s Syndrome, we quantified chan...

  13. Study of a human immunodeficiency virus-associated multiple-tissue dysfunction syndrome in one boy: Analysis of multiple tissues using X-ray, computed tomography and magnetic resonance imaging

    Directory of Open Access Journals (Sweden)

    Xichao Xia

    2016-03-01

    Full Text Available In the previous study, reports of human immunodeficiency virus (HIV-associated multiple tissue dysfunction syndromes are limit. Now, multiple tissue lesions of one boy with AIDS were analyzed using X-ray, computed tomography (CT and magnetic resonance imaging (MRI. Results showed that obvious brain atrophy and several focus were detected by CT and MRI. Lung lymphoid inflammation and pulmonary lymphoplasia were observed by CT. A swelling with a slight low density in hepatic anterior region of right lobe and a large soft tissue neoplasm in right abdomen were obtained by CT. An obvious damage of intestinal duct and intestinal lymphomas were respectively observed by molybdenum contrast image and CT. X-ray showed a low density of thoracic bone and iliac bone, and irregular shapes of bone joint and epiphysis. Characterizations of HIV-associated multiple organ dysfunction syndromes in the case are benefit to understand features of children with acquired immune deficiency syndrome.

  14. Det hepatorenale syndrom

    DEFF Research Database (Denmark)

    Møller, S; Abrahamsen, J; Ring-Larsen, H

    1995-01-01

    Renal dysfunction and abnormal sodium-water handling are frequent in liver disease. The term hepatorenal syndrome (HRS) denotes a functional type of renal failure characterized by a progressive decrease in the glomerular filtration rate (GFR), greatly increased sodium retention, a high urine...

  15. A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies

    NARCIS (Netherlands)

    Bondurand, N.; Kuhlbrodt, K.; Pingault, V.; Enderich, J.; Sajus, M.; Tommerup, N.; Warburg, M.; Hennekam, R. C.; Read, A. P.; Wegner, M.; Goossens, M.

    1999-01-01

    The Yemenite deaf-blind hypopigmentation syndrome was first observed in a Yemenite sister and brother showing cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss. A second case, observed in a girl with similar skin symptoms and hearing loss but

  16. Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances

    NARCIS (Netherlands)

    van Ommen, C. H.; Peters, M.; Barth, P. G.; Vreken, P.; Wanders, R. J.; Jaeken, J.

    2000-01-01

    An 8-year-old boy is described with borderline cognitive impairment, cerebellar hypoplasia, a stroke-like episode, and venous thrombosis of the left leg after a period of immobilization. The pattern of multiple abnormalities in blood coagulation suggested carbohydrate-deficient glycoprotein syndrome

  17. Maladaptive Conflict Monitoring as Evidence for Executive Dysfunction in Children with Chromosome 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Bish, Joel P.; Ferrante, Samantha M.; McDonald-McGinn, Donna; Zackai, Elaine; Simon, Tony J.

    2005-01-01

    Using an adaptation of the Attentional Networks Test, we investigated aspects of executive control in children with chromosome 22q11.2 deletion syndrome (DS22q11.2), a common but not well understood disorder that produces non-verbal cognitive deficits and a marked incidence of psychopathology. The data revealed that children with DS22q11.2…

  18. Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction

    NARCIS (Netherlands)

    Itoh, Hideki; Berthet, Myriam; Fressart, Véronique; Denjoy, Isabelle; Maugenre, Svetlana; Klug, Didier; Mizusawa, Yuka; Makiyama, Takeru; Hofman, Nynke; Stallmeyer, Birgit; Zumhagen, Sven; Shimizu, Wataru; Wilde, Arthur A. M.; Schulze-Bahr, Eric; Horie, Minoru; Tezenas du Montcel, Sophie; Guicheney, Pascale

    2016-01-01

    Transmission distortion of disease-causing alleles in long QT syndrome (LQTS) has been reported, suggesting a potential role of KCNQ1 and KCNH2 in reproduction. This study sought to investigate parental transmission in LQTS families according to ethnicity, gene loci (LQT1-3: KCNQ1, KCNH2, and SCN5A)

  19. Association of Type D personality with increased vulnerability to depression: Is there a role for inflammation or endothelial dysfunction? - The Maastricht Study.

    Science.gov (United States)

    van Dooren, Fleur E P; Verhey, Frans R J; Pouwer, Frans; Schalkwijk, Casper G; Sep, Simone J S; Stehouwer, Coen D A; Henry, Ronald M A; Dagnelie, Pieter C; Schaper, Nicolaas C; van der Kallen, Carla J H; Koster, Annemarie; Schram, Miranda T; Denollet, Johan

    2016-01-01

    Type D personality - the combination of negative affectivity (NA) and social inhibition (SI) - has been associated with depression but little is known about underlying mechanisms. We examined whether (1) Type D is a vulnerability factor for depression in general, (2) Type D is associated with inflammation or endothelial dysfunction, and (3) these biomarkers alter the possible association between Type D and depression. In the Maastricht Study, 712 subjects underwent assessment of NA, SI and Type D personality (DS14), depressive disorder (Mini-International Neuropsychiatric Interview) and depressive symptoms (Patient Health Questionnaire-9). Plasma biomarkers of inflammation (hsCRP, SAA, sICAM-1, IL-6, IL-8, TNF-α) and endothelial dysfunction (sVCAM-1, sICAM-1, E-selectin, vWF) were measured with sandwich immunoassays or ELISA and combined into standardized sumscores. Regarding personality, 49% of the study population was low in NA and SI, 22% had SI only, 12% NA only and 17% had Type D. Depressive disorder and depressive symptoms were significantly more prevalent in Type D versus the other three personality subgroups. Multivariable regression analyses showed that Type D was associated with inflammation (β=0.228, p=0.014) and endothelial dysfunction (β=0.216, p=0.022). After adjustment for these biomarkers, Type D remained independently associated with increased vulnerability to depressive disorder (OR=13.20, ppersonality may be a vulnerability factor for depression, irrespective of levels of inflammation or endothelial dysfunction. Future research should examine possible underlying mechanisms. Copyright © 2015 Elsevier B.V. All rights reserved.

  20. Social Cognition Dysfunction in Adolescents with 22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome): Relationship with Executive Functioning and Social Competence/Functioning

    Science.gov (United States)

    Campbell, L. E.; McCabe, K. L.; Melville, J. L.; Strutt, P. A.; Schall, U.

    2015-01-01

    Background: Social difficulties are often noted among people with intellectual disabilities. Children and adults with 22q.11.2 deletion syndrome (22q11DS) often have poorer social competence as well as poorer performance on measures of executive and social-cognitive skills compared with typically developing young people. However, the relationship…

  1. Increased beta rhythm as an indicator of inhibitory mechanisms in tourette syndrome

    DEFF Research Database (Denmark)

    Niccolai, Valentina; van Dijk, Hanneke; Franzkowiak, Stephanie

    2016-01-01

    BACKGROUND: Inhibitory oscillatory mechanisms subserving tic compensation have been put forward in Tourette syndrome. Modulation of the beta rhythm (15-25 Hz) as the well-established oscillatory movement execution-inhibition indicator was tested during a cognitive-motor task in patients with Tour...... that stronger inhibitory compensation accompanies less tic severity. © 2016 International Parkinson and Movement Disorder Society.......BACKGROUND: Inhibitory oscillatory mechanisms subserving tic compensation have been put forward in Tourette syndrome. Modulation of the beta rhythm (15-25 Hz) as the well-established oscillatory movement execution-inhibition indicator was tested during a cognitive-motor task in patients...... in parieto-occipital brain regions contralaterally to the response hand. Average beta power and power gain correlated negatively with tic severity. CONCLUSIONS: Increased motor inhibitory as well as visuomotor attentional processes are likely to subserve tic compensation. Correlational results suggest...

  2. Relation of increased short-term variability of QT interval to congenital long-QT syndrome

    DEFF Research Database (Denmark)

    Hinterseer, Martin; Beckmann, Britt-Maria; Thomsen, Morten B

    2009-01-01

    Apart from clinical symptoms the diagnosis and risk stratification in long-QT syndrome (LQTS) is usually based on the surface electrocardiogram. Studies have indicated that not only prolongation of the QT interval but also an increased short-term variability of QT interval (STV(QT)) is a marker...... that an STV(QT) of 4.9 ms was the optimal cut-off value to predict mutation carriers. When incorporating an STV(QT) >4.9 ms for those whose QTc interval was within the normal limits, sensitivity to distinguish mutation carriers increased to 83% with a specificity of 68%, so that another 15 mutation carriers...

  3. Neurophysiological and histopathological evaluation of small fiber pathways as diagnostic characterization of neuropathic pain and autonom dysfunction syndromes

    OpenAIRE

    Devigli, Grazia

    2012-01-01

    This manuscript is made up of two individual not related articles about peripheral neuropathic pain syndrome. The first article reports the effect on pain relief in patients with peripheral neuropathic pain after brachial plexus lesions or distal peripheral nerve injury using an implanted peripheral nerve stimulator applied directly on nerve branch using a peculiar surgical technique. Seven patients with post-traumatic lesion of brachial plexus or peripheral nerve complaining severe intractab...

  4. A 21-Week Bone Deposition Promoting Exercise Programme Increases Bone Mass in Young People with Down Syndrome

    Science.gov (United States)

    Gonzalez-Aguero, Alejandro; Vicente-Rodriguez, German; Gomez-Cabello, Alba; Ara, Ignacio; Moreno, Luis A.; Casajus, Jose A.

    2012-01-01

    Aim: To determine whether the bone mass of young people with Down syndrome may increase, following a 21-week conditioning training programme including plyometric jumps. Method: Twenty-eight participants with Down syndrome (13 females, 15 males) aged 10 to 19 years were divided into exercise (DS-E; n = 14; eight females, six males mean age 13y 8mo,…

  5. Increased insulin sensitivity and reduced micro and macro vascular disease induced by 2-deoxy-D-glucose during metabolic syndrome in obese JCR: LA-cp rats.

    Science.gov (United States)

    Russell, J C; Proctor, S D

    2007-05-01

    The metabolic syndrome, characterized by obesity, insulin resistance and dyslipidemia, is a major cause of cardiovascular disease. The origins of the syndrome have been hypothesized to lie in continuous availability of energy dense foods in modern societies. In contrast, human physiology has evolved in an environment of sporadic food supply and frequent food deprivation. Intermittent food restriction in rats has previously been shown to lead to reduction of cardiovascular risk and a greater life span. The non-metabolizable glucose analogue, 2-deoxy-D-glucose (2-DG) is taken up by cells and induces pharmacological inhibition of metabolism of glucose. We hypothesized that intermittent inhibition of glucose metabolism, a metabolic deprivation, may mimic intermittent food deprivation and ameliorate metabolic and pathophysiological aspects of the metabolic syndrome. Insulin resistant, atherosclerosis-prone JCR:LA-cp rats were treated with 2-DG (0.3% w/w in chow) on an intermittent schedule (2 days treated, one day non-treated, two days treated and two days non-treated) or continuously at a dose to give an equivalent averaged intake. Intermittent 2-DG-treatment improved insulin sensitivity, which correlated with increased adiponectin concentrations. Further, intermittent treatment (but not continuous treatment) reduced plasma levels of leptin and the inflammatory cytokine IL-1 beta. Both 2-DG treatments reduced micro-vascular glomerular sclerosis, but only the intermittent schedule improved macro-vascular dysfunction. Our findings are consistent with reduction in severity of the metabolic syndrome and protection against end stage micro- and macro-vascular disease through intermittent metabolic deprivation at a cellular level by inhibition of glucose oxidation with 2-DG.

  6. Oral glucose tolerance test predicts increased carotid plaque burden in patients with acute coronary syndrome.

    Directory of Open Access Journals (Sweden)

    Thorarinn A Bjarnason

    Full Text Available Type 2 diabetes and prediabetes are established risk factors for atherosclerosis. The aim of this study was to evaluate the atherosclerotic plaque burden in the carotid arteries of patients with acute coronary syndrome according to their glycemic status.Patients with acute coronary syndrome and no previous history of type 2 diabetes were consecutively included in the study. Glucose metabolism was evaluated with fasting glucose in plasma, HbA1c and a standard two-hour oral glucose tolerance test. Atherosclerotic plaque in the carotid arteries was evaluated with a standardized ultrasound examination where total plaque area was measured and patients classified as having no plaque or a significant plaque formation.A total of 245 acute coronary syndrome patients (male 78%, 64 years (SD: 10.9 were included. The proportion diagnosed with normal glucose metabolism, prediabetes and type 2 diabetes was 28.6%, 64.1% and 7.3%, respectively. A significant atherosclerotic plaque was found in 48.5%, 66.9% and 72.2% of patients with normal glucose metabolism, prediabetes and type 2 diabetes, respectively. An incremental increase in total plaque area was found from normal glucose metabolism to prediabetes (25.5% and from normal glucose metabolism to type 2 diabetes (35.9% (p = 0.04. When adjusted for conventional cardiovascular risk factors the OR of having significant atherosclerotic plaque in the carotid arteries was 2.17 (95% CI 1.15-4.15 for patients with newly diagnosed dysglycemia compared to patients with normal glucose metabolism. When additionally adjusted for the 2-hour plasma glucose after glucose loading (2hPG the OR attenuated to 1.77 (95% CI 0.83-3.84.Newly detected dysglycemia is an independent predictor of significant atherosclerotic plaque in the carotid arteries with oral glucose tolerance test as a major determinant of carotid plaque burden in this group of individuals with acute coronary syndrome.

  7. Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD.

    Science.gov (United States)

    Hasegawa, Yukihiro; Ariyasu, Daisuke; Izawa, Masako; Igaki-Miyamoto, Junko; Fukuma, Mami; Hatano, Megumi; Yagi, Hiroko; Goto, Masahiro

    2017-02-27

    Estrogen replacement therapy in Turner syndrome should theoretically mimic the physiology of healthy girls. The objective of this study was to describe final height and bone mineral density (BMD) in a group of 17 Turner syndrome patients (group E) who started their ethinyl estradiol therapy with an ultra-low dosage (1-5 ng/kg/day) from 9.8-13.7 years. The subjects in group E had been treated with GH 0.35 mg/kg/week since the average age of 7.4 years. The 30 subjects in group L, one of the historical groups, were given comparable doses of GH, and conjugated estrogen 0.3125 mg/week ∼0.3125 mg/day was initiated at 12.2-18.7 years. The subjects in group S, the other historical group, were 21 patients who experienced breast development and menarche spontaneously. Final height (height gain Turner syndrome. The final height in group L was 148.5 ± 3.0 cm with a SD of 1.30 ± 0.55, which was significantly different from the values for group E. The volumetric BMD of group S (0.290 ± 0.026 g/cm 3 ) was significantly different from that of group L or E (0.262 or 0.262 g/cm 3 as a mean, respectively). This is the first study of patients with Turner syndrome where estrogen was administered initially in an ultra-low dose and then increased gradually. Our estrogen therapy in group E produced good final height but not ideal BMD.

  8. CLINICAL IMPORTANCE OF ENDOTHELIAL DYSFUNCTION AND INSULIN RESISTANCE SYNDROME IN PATIENTS WITH GOUT ASSOCIATED WITH ARTERIAL HYPERTENSION

    Directory of Open Access Journals (Sweden)

    N. N. Kushnarenko

    2015-09-01

    Full Text Available Aim. To study the endothelium status and determine the correlation between endothelial dysfunction and glucose metabolism in men with gout associated with arterial hypertension (HT.Material and methods. Patients (n=175, all are males with gout were enrolled into the study. Ambulatory blood pressure monitoring (ABPM was performed in all patients. Endothelial function was studied in tests with reactive hyperemia (endothelium-dependent reaction and nitroglycerin (endothelium independent reaction in brachial artery by ultrasonic Doppler examination. The level of nitrite-nitrate and endothelin-1 in blood serum was determined by ELISA technique. Fasting blood glucose and oral glucose tolerance tests were performed as well as fasting insulin blood level was determined by immunoenzyme method. Insulin-resistance index (HOMA-IR was calculated. Patients with HOMA- IR>2.77 were considered as insulin-resistant.Results. Patients with gout demonstrated endothelial deterioration associated with activation of nitroxid producing function, elevation in endothelin-1 serum level (1.36 fmol/ml [0.91; 2.32 fmol/ml] vs 0.19 fmol/ml [0.16; 0.27 fmol/ml] in controls, p<0.05 and impairments of endothelium-dependent vasodilation (6.4% [3.3; 7.3%] vs 17.8% [12.7; 23.9%] in controls, p<0.05. The revealed changes were the most marked in patients with gout associated with HT. The correlation between some endothelial dysfunction in- dices and glucose metabolism was observed.Conclusion. ABPM, brachial artery endothelium-dependent vasodilation and glucose metabolism status should be studied in patients with gout. Complex treatment of cardiovascular diseases in patients with gout should include ω-3 polyunsaturated fatty acids, angiotensin receptor antagonists should be used for antihypertensive therapy.

  9. Vascular Dysfunction in Horses with Endocrinopathic Laminitis.

    Science.gov (United States)

    Morgan, Ruth A; Keen, John A; Walker, Brian R; Hadoke, Patrick W F

    Endocrinopathic laminitis (EL) is a vascular condition of the equine hoof resulting in severe lameness with both welfare and economic implications. EL occurs in association with equine metabolic syndrome and equine Cushing's disease. Vascular dysfunction, most commonly due to endothelial dysfunction, is associated with cardiovascular risk in people with metabolic syndrome and Cushing's syndrome. We tested the hypothesis that horses with EL have vascular, specifically endothelial, dysfunction. Healthy horses (n = 6) and horses with EL (n = 6) destined for euthanasia were recruited. We studied vessels from the hooves (laminar artery, laminar vein) and the facial skin (facial skin arteries) by small vessel wire myography. The response to vasoconstrictors phenylephrine (10-9-10-5M) and 5-hydroxytryptamine (5HT; 10-9-10-5M) and the vasodilator acetylcholine (10-9-10-5M) was determined. In comparison with healthy controls, acetylcholine-induced relaxation was dramatically reduced in all intact vessels from horses with EL (% relaxation of healthy laminar arteries 323.5 ± 94.1% v EL 90.8 ± 4.4%, P = 0.01, laminar veins 129.4 ± 14.8% v EL 71.2 ± 4.1%, P = 0.005 and facial skin arteries 182.0 ± 40.7% v EL 91.4 ± 4.5%, P = 0.01). In addition, contractile responses to phenylephrine and 5HT were increased in intact laminar veins from horses with EL compared with healthy horses; these differences were endothelium-independent. Sensitivity to phenylephrine was reduced in intact laminar arteries (P = 0.006) and veins (P = 0.009) from horses with EL. Horses with EL exhibit significant vascular dysfunction in laminar vessels and in facial skin arteries. The systemic nature of the abnormalities suggest this dysfunction is associated with the underlying endocrinopathy and not local changes to the hoof.

  10. Vascular Dysfunction in Horses with Endocrinopathic Laminitis.

    Directory of Open Access Journals (Sweden)

    Ruth A Morgan

    Full Text Available Endocrinopathic laminitis (EL is a vascular condition of the equine hoof resulting in severe lameness with both welfare and economic implications. EL occurs in association with equine metabolic syndrome and equine Cushing's disease. Vascular dysfunction, most commonly due to endothelial dysfunction, is associated with cardiovascular risk in people with metabolic syndrome and Cushing's syndrome. We tested the hypothesis that horses with EL have vascular, specifically endothelial, dysfunction. Healthy horses (n = 6 and horses with EL (n = 6 destined for euthanasia were recruited. We studied vessels from the hooves (laminar artery, laminar vein and the facial skin (facial skin arteries by small vessel wire myography. The response to vasoconstrictors phenylephrine (10-9-10-5M and 5-hydroxytryptamine (5HT; 10-9-10-5M and the vasodilator acetylcholine (10-9-10-5M was determined. In comparison with healthy controls, acetylcholine-induced relaxation was dramatically reduced in all intact vessels from horses with EL (% relaxation of healthy laminar arteries 323.5 ± 94.1% v EL 90.8 ± 4.4%, P = 0.01, laminar veins 129.4 ± 14.8% v EL 71.2 ± 4.1%, P = 0.005 and facial skin arteries 182.0 ± 40.7% v EL 91.4 ± 4.5%, P = 0.01. In addition, contractile responses to phenylephrine and 5HT were increased in intact laminar veins from horses with EL compared with healthy horses; these differences were endothelium-independent. Sensitivity to phenylephrine was reduced in intact laminar arteries (P = 0.006 and veins (P = 0.009 from horses with EL. Horses with EL exhibit significant vascular dysfunction in laminar vessels and in facial skin arteries. The systemic nature of the abnormalities suggest this dysfunction is associated with the underlying endocrinopathy and not local changes to the hoof.

  11. Executive dysfunction and its association with personality and behaviour changes in the development of Alzheimer's disease in adults with Down syndrome and mild to moderate learning disabilities.

    Science.gov (United States)

    Ball, Sarah L; Holland, Anthony J; Treppner, Peter; Watson, Peter C; Huppert, Felicia A

    2008-03-01

    Recent research suggests that preclinical Alzheimer's disease (AD) in people with Down syndrome (DS) is characterized by changes in personality/behaviour and executive dysfunction that are more prominent than deterioration in episodic memory. This study examines the relationship between executive dysfunction and the clinical and preclinical features of AD in DS. To determine the specificity of this relationship, performance on executive function (EF) measures is contrasted with performance on memory measures. One hundred and three people with DS (mean age 49 years, range 36-72) with mild to moderate learning disabilities (LD) took part. Dementia diagnosis was based on the CAMDEX informant interview conducted with each participant's main carer. Reported changes in personality/behaviour and memory were recorded. Participants completed six EF and six memory measures (two of which also had a strong executive component) and the BPVS (as a measure of general intellectual ability). First, performance was compared between those with and without established dementia of Alzheimer's type (DAT), controlling for age and LD severity using ANCOVA. Next, the degree to which informant-reported changes predicted cognitive test performance was examined within the non-DAT group using multiple regression analyses. The DAT group (N=25) showed a consistent pattern of impaired performance relative to the non-DAT group (N=78), across all measures. Within the non-DAT group, number of informant-reported personality/behaviour changes was a significant predictor of performance on two EF and two 'executive memory' tests (but not on episodic memory tests). Informant-reported memory changes, however, were associated with impaired performance on a delayed recall task only. These findings provide further evidence for a specific impairment in frontal-lobe functioning in the preclinical stages of AD in DS. Implications for the assessment, diagnosis, and management of dementia in DS are discussed.

  12. Increased electroencephalographic high frequencies during the sleep onset period in patients with restless legs syndrome.

    Science.gov (United States)

    Ferri, Raffaele; Cosentino, Filomena I I; Manconi, Mauro; Rundo, Francesco; Bruni, Oliviero; Zucconi, Marco

    2014-08-01

    To analyze the electroencephalographic (EEG) spectral content in untreated patients with restless legs syndrome (RLS) during the sleep onset period (SOP) and during the quiet wakefulness preceding sleep, in order to test the hypothesis that a state of hyperarousal might be present during the SOP with RLS. Sleep Research Centre. Twenty-seven untreated consecutive patients with RLS (mean age = 53.6 y), 11 untreated consecutive patients with primary insomnia (mean age = 58.9 y), and 14 normal controls (mean age = 50.3 y). SOP was defined as the 10-min period centered with the occurrence of the first sleep spindle in the EEG, and then subdivided into SOP-1 (period of 5 min before the first spindle) and SOP-2 (period of 5 min following). Leg movements occurring during SOP were counted and used as a covariate in the statistical analysis. Also, one period of 1 min of artifact-free quiet wakefulness after lights off was identified. EEG spectral analysis was run during these periods using the C3/A2 or C4/A1 channel. Increased EEG alpha and beta bands and/or beta/delta ratio in RLS versus normal controls, during both wakefulness preceding sleep and SOP (both parts SOP-1 and SOP-2) were found, which were, however, smaller than the increases found in patients with insomnia. The results of this study support the hypothesis of the presence of a state of hyperarousal in restless legs syndrome (RLS) during the sleep onset period. Treatment for RLS might need to take these findings into consideration. Ferri R, Cosentino FI, Manconi M, Rundo F, Bruni O, Zucconi M. Increased electroencephalographic high frequencies during the sleep onset period in patients with restless legs syndrome.

  13. GASTROINTESTINAL MANIFESTATIONS OF MITOCHONDRIAL DYSFUNCTION

    Directory of Open Access Journals (Sweden)

    A. A. Ziganshina

    2016-01-01

    Full Text Available Objective: to highlight the current concepts of gastrointestinal manifestations of mitochondrial dysfunction. The data available in Russian and foreign literature on the gastrointestinal manifestations of mitochondrial dysfunction were analyzed. Functional digestive diseases are common in pediatric practice; however, their etiopathogenesis has not been adequately explored today. According to the literature, impaired cellular energy metabolism may underlie gastrointestinal motility disorders in cyclic vomiting syndrome, gastroesophageal reflux, gastric stasis, chronic diarrhea, constipation, intestinal pseudoobstruction, malabsorption syndrome, irritable bowel syndrome, as well as diseases of the liver and pancreas.

  14. Increased susceptibility of post-weaning rats on high-fat diet to metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Hong Sheng Cheng

    2017-11-01

    Full Text Available The present study aimed to examine the effects of the types of high-calorie diets (high-fat and high-fat-high-sucrose diets and two different developmental stages (post-weaning and young adult on the induction of metabolic syndrome. Male, post-weaning and adult (3- and 8-week old, respectively Sprague Dawley rats were given control, high-fat (60% kcal, and high-fat-high-sucrose (60% kcal fat + 30% sucrose water diets for eight weeks (n = 6 to 7 per group. Physical, biochemical, and transcriptional changes as well as liver histology were noted. Post-weaning rats had higher weight gain, abdominal fat mass, fasting glucose, high density lipoprotein cholesterol, faster hypertension onset, but lower circulating advanced glycation end products compared to adult rats. This is accompanied by upregulation of peroxisome proliferator-activated receptor (PPAR α and γ in the liver and receptor for advanced glycation end products (RAGE in the visceral adipose tissue. Post-weaning rats on high-fat diet manifested all phenotypes of metabolic syndrome and increased hepatic steatosis, which are linked to increased hepatic and adipocyte PPARγ expression. Adult rats on high-fat-high-sucrose diet merely became obese and hypertensive within the same treatment duration. Thus, it is more effective and less time-consuming to induce metabolic syndrome in male post-weaning rats with high-fat diet compared to young adult rats. As male rats were selectively included into the study, the results may not be generalisable to all post-weaning rats and further investigation on female rats is required.

  15. Lidocaine Test Increases the Success Rates of Corticosteroid Injection in Impingement Syndrome.

    Science.gov (United States)

    Kim, Sang Jun; Lee, Hyo Sun

    2016-10-01

    To determine whether lidocaine test injections would increase the success rate of corticosteroid injection for treatment of impingement syndrome. Two hundred thirty-nine patients diagnosed with impingement syndrome were allocated to the lidocaine test (LC) group (N = 139) and the subacromial (SA) group (N = 100). The LC group received 1 ml of 1% lidocaine injection into the subacromial bursa under ultrasound guidance and a second injection of the steroid solution into the subacromial bursa or glenohumeral joint according to the response. The SA group received the same amount of steroid injection into the subacromial bursa without a prior lidocaine injection. Categorical outcomes were utilized and subjects were grouped based on percentage pain relief. Clinical improvement was expressed in terms of the patient's global impression of change (PGIC) as 'not improved,' 'slightly improved,' and 'much improved. In the LC group, 76 of the 139 patients (54% [95 CI 46-63%]) showed '50-80% improvement' and 15 (11% [95% CI 6.6-17%]) patients showed 'more than 80% improvement' at 3 weeks after the injection. While in the SA group, 29 of the 100 patient (29% [95% CI 21-39%]) showed '50-80% improvement' and 13 (13% [95% CI 7.7-21%]) showed 'more than 80% 3 weeks after the injection (χ 2  = 15.073, P = 0.001). This difference persisted at 3 months (χ 2  =   8.015, P = 0.018). The chi-square test of PGIC at 3 weeks also showed significant differences (P lidocaine pre-injection increases the success rate of steroid injection in patients suspected of having impingement syndrome. © 2016 American Academy of Pain Medicine. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  16. Heroin-Related Compartment Syndrome: An Increasing Problem for Acute Care Surgeons.

    Science.gov (United States)

    Benns, Matthew; Miller, Keith; Harbrecht, Brian; Bozeman, Matthew; Nash, Nicholas

    2017-09-01

    Heroin use has been increasing in the United States with the rate of heroin overdose nearly quadrupling in the last 10 years. Heroin overdose can occasionally lead to compartment syndrome (CS) because of extended periods of immobility and pressure tissue injury. Heroin-related compartment syndrome (HRCS) has previously been described, but has been limited to isolated case reports. We sought to examine our experience with HRCS in the climate of rising rates of heroin use among the general population. Medical records of all patients undergoing operative decompression for a CS at our academic medical center over a six-year period (2010-2015) were examined. Patient demographics, operation performed, and etiology were recorded. Cases of HRCS were identified, and clinical outcomes examined. A total of 213 patients undergoing fasciotomy were identified. Twenty-two of these patients had HRCS. Heroin was the second most common etiology of CS after trauma. Only one case of HRCS presented during the first three years of the study period, with the remaining 95 per cent of cases occurring within the last three years. The most common single location for HRCSs was gluteal (31.8%); 36 per cent of HRCS patients needed dialysis and 27 per cent suffered complications such as tissue loss. The incidence of HRCS has increased dramatically over the past several years and is now the second most common etiology for CS in our patient population. Patients with HRCS may present with severe manifestations of CS and different body areas affected.

  17. Chronic complications of inhalation injury: chest HRCT findings and a correlation with the pulmonary function test in reactive airway dysfunction syndrome

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    Song, Ki Hyeok; Lee, In Sun; Jung, Eun Hee; Ji, Young Gu; Lee, Young Seok [Dankook University Hospital, Cheonan (Korea, Republic of)

    2007-09-15

    To evaluate the HRCT findings and to correlate the findings with the results of a pulmonary function test (PFT) in patients with reactive airway dysfunction syndrome (RADS). On March 2003, a fire at a boarding house of primary school soccer players caused a multiple casualty disaster. After 8 months, nine boys that presented with chronic cough and dyspnea were treated, and were subjected to follow-up evaluations. Eight patients underwent a chest radiograph, HRCT, and a PET. Two patients with severe symptoms received extended follow-up after 1 year. Two radiologists retrospectively reviewed the chest radiographs and the follow-up HRCT scans. We correlated the HRCT findings with the results of the PET. Six patients with an inhalation injury were diagnosed with RADS. On the chest radiographs, eight patients showed no abnormal findings. On an HRCT scan, four patients showed abnormal findings. The abnormal findings were mosaic air trapping (n = 4), bronchial wall thickening (n = 1), and parenchymal consolidation (n = 1). In all four patients that showed abnormal findings in the HRCT scan, abnormal results of the PET were also seen. The two patients that received extended follow-up showed an improvement of the clinical symptoms, as seen by the PFT, and had a decreased extent and degree of mosaic air trapping, as seen on HRCT. An HRCT scan is an essential modality for the diagnosis and follow-up of patients with RADS. Both a full expiratory and inspiratory HRCT scan must be performed for an accurate diagnosis.

  18. The effect of reduced disclusion time in the treatment of myofascial pain dysfunction syndrome using immediate complete anterior guidance development protocol monitored by digital analysis of occlusion.

    Science.gov (United States)

    Thumati, Prafulla; Manwani, Rakhi; Mahantshetty, Minal

    2014-10-01

    Chronic myofascial pain dysfunction syndrome (MPDS) has been a nightmare for patients suffering from it, who have been treated with various treatment options with varied outcomes. This population of patients has been neglected, due to nagging revisits to a clinician and decreased percentage of success. T-Scan-based immediate complete anterior guidance development (ICAGD) has been shown by a researcher to reduce the muscle hyperactivity consistent with MPDS. The purpose of this study is to evaluate the effect of reduced disclusion time in lateral excursions in treating the MPDS symptoms. Fifty-one myofascial pain patients with symptoms in the area of the head and neck region were treated with ICAGD. The quantified force and time data from T-Scan records were used to correct the prolonged disclusion time, and the subjects were assessed for the symptom relief. The Wilcoxon Signed Ranks Test was used for statistical analysis (P<0·05 denotes significant changes). The changes in disclusion time and intensity of various symptoms were found to be statistically significant (P<0·05) from Day 1 onwards, and patients were relieved of their symptoms after reduction of disclusion time of less than 0·5 seconds. The results clearly indicated that ICAGD protocol reduces musculoskeletal-based symptoms of MPDS patients, and this protocol can prove beneficial for the clinical treatment success.

  19. Brainstem dysfunction in patients with late-onset Lennox-Gastaut syndrome: Voxel-based morphometry and tract-based spatial statistics study

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    Kang Min Park

    2016-01-01

    Full Text Available Background: There have been a few reports of patients who developed Lennox-Gastaut syndrome (LGS in the second decades of their life. Objectives: The aim of this study was to investigate electroclinical presentation in patients with late-onset LGS. In addition, we evaluated structural abnormalities of the brain, which may give some clue about the common pathogenic pathway in LGS. Materials and Methods: We enrolled the patients with late-onset LGS. We collected electroclinical characteristics of the patients and evaluated structural abnormalities using voxel-based morphometry (VBM and tract-based spatial statistics (TBSS analysis. Results: The three subjects were diagnosed with late-onset LGS. The patients have no mental retardation and normal background activities on electroencephalography (EEG, and they had generalized paroxysmal fast activities on EEG, especially during sleep. The TBSS analysis revealed that fractional anisotropy values in the patients were significantly reduced in the white matter of brainstem compared with normal controls. However, VBM analysis did not show any significant difference between the patients and normal controls. Conclusions: Patients with late-onset LGS have different clinical and EEG characteristics from those with early-onset LGS. In addition, we demonstrated that brainstem dysfunction might contribute to the pathogenesis of late-onset LGS.

  20. The association of posttraumatic stress disorder and metabolic syndrome: a study of increased health risk in veterans

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    Hauger Richard L

    2009-01-01

    Full Text Available Abstract Background There is accumulating evidence for a link between trauma exposure, posttraumatic stress disorder (PTSD and diminished health status. To assess PTSD-related biological burden, we measured biological factors that comprise metabolic syndrome, an important established predictor of morbidity and mortality, as a correlate of long-term health risk in PTSD. Methods We analyzed clinical data from 253 male and female veterans, corresponding to five factors linked to metabolic syndrome (systolic and diastolic blood pressure, waist-to-hip ratio and fasting measures of high-density lipoprotein (HDL cholesterol, serum triglycerides and plasma glucose concentration. Clinical cut-offs were defined for each biological parameter based on recommendations from the World Health Organization and the National Cholesterol Education Program. Controlling for relevant variables including sociodemographic variables, alcohol/substance/nicotine use and depression, we examined the impact of PTSD on metabolic syndrome using a logistic regression model. Results Two-fifths (40% of the sample met criteria for metabolic syndrome. Of those with PTSD (n = 139, 43% met criteria for metabolic syndrome. The model predicted metabolic syndrome well (-2 log likelihood = 316.650, chi-squared = 23.731, p = 0.005. Veterans with higher severity of PTSD were more likely to meet diagnostic criteria for metabolic syndrome (Wald = 4.76, p = 0.03. Conclusion These findings provide preliminary evidence linking higher severity of PTSD with risk factors for diminished health and increased morbidity, as represented by metabolic syndrome.

  1. Increased subsequent risk of erectile dysfunction among middle and old age males with chronic osteomyelitis: a nationwide population-based cohort study.

    Science.gov (United States)

    Wang, H-Y; Chao, C-H; Lin, C-L; Tseng, C-H; Kao, C-H

    2016-07-01

    Chronic inflammation may cause endothelial dysfunction and atherosclerosis, resulting in subsequent erectile dysfunction (ED). We examined the relationship between chronic osteomyelitis, which is a chronic inflammatory disease, and ED. A retrospective cohort study was conducted using data from the National Health Insurance Research Database. After excluding patients <40 years of age, 677 male patients newly diagnosed with chronic osteomyelitis (COM) from 1 January 2000 to 31 December 2011 were identified for the study. The non-osteomyelitis comparison cohort consisted of 2706 male participants. The incidence of ED was 2.66-fold higher in the COM cohort than in the non-osteomyelitis cohort (4.01 vs 1.51 per 10 000 person-years). After adjusting for age and comorbidities of coronary heart disease, hypertension, hyperlipidemia, depression, stroke, diabetes, peripheral vascular disease, chronic kidney disease, chronic obstructive pulmonary disease and asthma, the patients with COM had a 2.82-fold risk of ED (95% confidence interval=1.44-5.56). The incidence of ED increased with that of comorbidities in both cohorts. The highest hazard ratio was in patients between 40 and 59 years of age who had COM. Our data showed, for the first time, that COM is a possible risk factor for the development of ED.

  2. Reverse-D-4F Increases the Number of Endothelial Progenitor Cells and Improves Endothelial Progenitor Cell Dysfunctions in High Fat Diet Mice.

    Science.gov (United States)

    Nana, Yang; Peng, Jiao; Jianlin, Zhang; Xiangjian, Zhang; Shutong, Yao; Enxin, Zhan; Bin, Li; Chuanlong, Zong; Hua, Tian; Yanhong, Si; Yunsai, Du; Shucun, Qin; Hui, Wang

    2015-01-01

    Although high density lipoprotein (HDL) improves the functions of endothelial progenitor cells (EPCs), the effect of HDL ApoAI mimetic peptide reverse-D-4F (Rev-D4F) on EPC mobilization and repair of EPC dysfunctions remains to be studied. In this study, we investigated the effects of Rev-D4F on peripheral blood cell subpopulations in C57 mice treated with a high fat diet and the mechanism of Rev-D4F in improving the function of EPCs impaired by tumor necrosis factor-α (TNF-α). The high fat diet significantly decreased the number of EPCs, EPC migratory functions, and the percentage of lymphocytes in the white blood cells. However, it significantly increased the number of white blood cells, the percentage of monocytes in the white blood cells, and the level of vascular endothelial growth factor (VEGF) and TNF-α in the plasma. Rev-D4F clearly inhibited the effect of the high fat diet on the quantification of peripheral blood cell subpopulations and cytokine levels, and increased stromal cell derived factor 1α (SDF-1α) in the plasma. We provided in vitro evidence that TNF-α impaired EPC proliferation, migration, and tube formation through inactive AKT and eNOS, which was restored by Rev-D4F treatment. In contrast, both the PI3-kinase (PI3K) inhibitor (LY294002) and AKT inhibitor (perifosine) obviously inhibited the restoration of Rev-4F on EPCs impaired by TNF-α. Our results suggested that Rev-D4F increases the quantity of endothelial progenitor cells through increasing the SDF-1α levels and decreasing the TNF-α level of peripheral blood in high fat diet-induced C57BL/6J mice, and restores TNF-α induced dysfunctions of EPCs partly through stimulating the PI3K/AKT signal pathway.

  3. Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration.

    Science.gov (United States)

    Busch, Albert; Hoffjan, Sabine; Bergmann, Frauke; Hartung, Birgit; Jung, Helena; Hanel, Daniela; Tzschach, Andeas; Kadar, Janos; von Kodolitsch, Yskert; Germer, Christoph-Thomas; Trobisch, Heiner; Strasser, Erwin; Wildenauer, René

    2016-08-03

    The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coagulation contribute to the challenge in treatment strategies. Until now there is little information about clotting characteristics that might influence hemostasis decisively and eventually worsen emergency situations. 22 vascular type EDS patients were studied for hemoglobin, platelet volume and count, Quick and activated partial thromboplastin time, fibrinogen, factor XIII, von Willebrand disease, vitamin D and platelet aggregation by modern standard laboratory methods. Results show a high prevalence of over 50 % for platelet aggregation disorders in vascular type EDS patients, especially for collagen and epinephrine induced tests, whereas the plasmatic cascade did not show any alterations. Additionally, more than half of the tested subjects showed low vitamin D serum levels, which might additionally affect vascular wall integrity. The presented data underline the importance of detailed laboratory screening methods in vascular type EDS patients in order to allow for targeted application of platelet-interacting substances that might be of decisive benefit in the emergency setting.

  4. Acute and long term effects of grape and pomegranate juice consumption on endothelial dysfunction in pediatric metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Roya Kelishadi

    2011-01-01

    Full Text Available Background: This study aimed to determine the short- and long-term effects of consumption of grape and pomegranate juices on markers of endothelial function and inflammation in adolescents with metabolic syndrome (MetS. Methods: In a non-pharmacologic randomized controlled trial, 30 individuals were randomly assigned to two groups of drinking natural grape or pomegranate juice for 1 month. Measurements of inflammatory factors [Hs-CRP, sE-selectin, sICAM-1, sVCAM, and interleukin 6 (IL-6] and flow-mediated dilation (FMD were made at baseline, 4 hours after first juice consumption and after one month of juice consumption. Results: The percent changes of FMD were significant in both groups in the short- and long-term. Hs-CRP had a nonsignificant decrease. sE selectin had a significant decrease after 4 hours in total and in the pomegranate juice group, followed by a significant decrease after 1 month in both groups. After 4 hours, sICAM-1 significantly decreased in the pomegranate juice group, and after 1 month it decreased in total and pomegranate juice group. Interleulkin-6 (IL-6 had a significant constant decrease at 4-hour and 1-month measurements after drinking pomegranate juice, and in both groups after 1 month. Significant negative correlations of changes in sICAM-1 and sE-selectin with changes in FMD were found in both periods of follow-up; and at 1 month for IL-6. Conclusions: Decline in inflammation was associated with improvement in FMD without changes in conventional risk factors. Daily consumption of natural antioxidants may improve endothelial function in adolescents with MetS.

  5. Intravenous inoculation of Staphylococcus aureus in pigs induces severe sepsis as indicated by increased hypercoagulability and hepatic dysfunction

    DEFF Research Database (Denmark)

    Leifsson, Pall S.; Iburg, Tine; Jensen, Henrik E.

    2010-01-01

    Nine pigs were inoculated intravenously once or twice with 108 Staphylococcus aureus per kilogram body weight and sacrificed 12, 24 and 48 h after inoculation. Three sham-infected pigs served as controls. Blood samples were taken for bacteriology, haematology and clinical chemistry. A necropsy...... was carried out and tissue samples were collected for bacteriology and histology. The onset of clinical disease was seen at 7-8 h after inoculation. The blood bacterial counts remained low throughout the study. All infected pigs developed sepsis characterized by fever, neutrophilia, increased levels of C......-reactive protein (CRP) and IL-6, and decreased levels of serum iron. The CRP and IL-6 levels peaked at 36 h, whereas IL-1 beta and tumour necrosis factor-alpha showed no obvious changes. Thromboelastography showed increasing hypercoagulability from 12 h and onwards, whereas the platelet numbers declined slightly...

  6. Upregulation of glycolytic enzymes, mitochondrial dysfunction and increased cytotoxicity in glial cells treated with Alzheimer's disease plasma.

    Directory of Open Access Journals (Sweden)

    Tharusha Jayasena

    Full Text Available Alzheimer's disease (AD is a neurodegenerative disorder associated with increased oxidative stress and neuroinflammation. Markers of increased protein, lipid and nucleic acid oxidation and reduced activities of antioxidant enzymes have been reported in AD plasma. Amyloid plaques in the AD brain elicit a range of reactive inflammatory responses including complement activation and acute phase reactions, which may also be reflected in plasma. Previous studies have shown that human AD plasma may be cytotoxic to cultured cells. We investigated the effect of pooled plasma (n = 20 each from healthy controls, individuals with amnestic mild cognitive impairment (aMCI and Alzheimer's disease (AD on cultured microglial cells. AD plasma and was found to significantly decrease cell viability and increase glycolytic flux in microglia compared to plasma from healthy controls. This effect was prevented by the heat inactivation of complement. Proteomic methods and isobaric tags (iTRAQ found the expression level of complement and other acute phase proteins to be altered in MCI and AD plasma and an upregulation of key enzymes involved in the glycolysis pathway in cells exposed to AD plasma. Altered expression levels of acute phase reactants in AD plasma may alter the energy metabolism of glia.

  7. Upregulation of Glycolytic Enzymes, Mitochondrial Dysfunction and Increased Cytotoxicity in Glial Cells Treated with Alzheimer’s Disease Plasma

    Science.gov (United States)

    Jayasena, Tharusha; Poljak, Anne; Braidy, Nady; Smythe, George; Raftery, Mark; Hill, Mark; Brodaty, Henry; Trollor, Julian; Kochan, Nicole; Sachdev, Perminder

    2015-01-01

    Alzheimer’s disease (AD) is a neurodegenerative disorder associated with increased oxidative stress and neuroinflammation. Markers of increased protein, lipid and nucleic acid oxidation and reduced activities of antioxidant enzymes have been reported in AD plasma. Amyloid plaques in the AD brain elicit a range of reactive inflammatory responses including complement activation and acute phase reactions, which may also be reflected in plasma. Previous studies have shown that human AD plasma may be cytotoxic to cultured cells. We investigated the effect of pooled plasma (n = 20 each) from healthy controls, individuals with amnestic mild cognitive impairment (aMCI) and Alzheimer’s disease (AD) on cultured microglial cells. AD plasma and was found to significantly decrease cell viability and increase glycolytic flux in microglia compared to plasma from healthy controls. This effect was prevented by the heat inactivation of complement. Proteomic methods and isobaric tags (iTRAQ) found the expression level of complement and other acute phase proteins to be altered in MCI and AD plasma and an upregulation of key enzymes involved in the glycolysis pathway in cells exposed to AD plasma. Altered expression levels of acute phase reactants in AD plasma may alter the energy metabolism of glia. PMID:25785936

  8. Egg intake improves carotenoid status by increasing plasma HDL cholesterol in adults with metabolic syndrome.

    Science.gov (United States)

    Blesso, Christopher N; Andersen, Catherine J; Bolling, Bradley W; Fernandez, Maria Luz

    2013-02-01

    Metabolic syndrome (MetS) is associated with reductions in plasma lutein and zeaxanthin, along with altered composition of their lipoprotein transporters which may affect disease risk. Egg yolk intake has been demonstrated to increase plasma lutein and zeaxanthin in other populations. The objective of this study was to investigate the effects of whole egg feeding on plasma and lipoprotein carotenoids in participants with MetS. Participants consumed 3 whole eggs per day (EGG, n = 20) or the equivalent amount of yolk-free egg substitute (SUB, n = 17), as part of a carbohydrate-restricted diet (CRD) for 12 weeks. Post-intervention, the EGG group had significant increases in plasma lutein (+21%), zeaxanthin (+48%), and β-carotene (+24%), while the SUB group had increases in plasma β-carotene (+55%) only. Significant enrichment of isolated HDL and LDL fractions in lutein (+20% HDL, +9% LDL) and zeaxanthin (+57% HDL, +46% LDL) was observed in the EGG group after 12 weeks. Increases in the proportion of plasma carotenoids carried by HDL was seen for lutein (P eggs, as part of a CRD, increased both plasma and lipoprotein lutein and zeaxanthin. Egg yolk may represent an important food source to improve plasma carotenoid status in a population at high risk for cardiovascular disease and type 2 diabetes.

  9. Increasing prevalence of metabolic syndrome in Korea: the Korean National Health and Nutrition Examination Survey for 1998-2007.

    Science.gov (United States)

    Lim, Soo; Shin, Hayley; Song, Jung Han; Kwak, Soo Heon; Kang, Seon Mee; Won Yoon, Ji; Choi, Sung Hee; Cho, Sung Il; Park, Kyong Soo; Lee, Hong Kyu; Jang, Hak Chul; Koh, Kwang Kon

    2011-06-01

    The number of people with metabolic syndrome is increasing worldwide, and changes in socioenvironmental factors contribute to this increase. Therefore, investigation of changes in metabolic syndrome and its components in South Korea, where rapid socioenvironmental changes have occurred in recent years, would be foundational in setting up an effective strategy for reducing this increasing trend. We compared the prevalence and pattern of metabolic syndrome among participants in the Korean National Health and Nutrition Examination Surveys for 1998, 2001, 2005, and 2007. In each survey, stratified, multistage, probability-sampling designs and weighting adjustments were conducted to represent the entire Korean population. The revised National Cholesterol Education Program criteria were used as the definition of metabolic syndrome. All biochemical parameters were measured in a central laboratory. A total of 6,907 (mean ± SE age 45.0 ± 0.2 years), 4,536 (45.5 ± 0.2), 5,373 (47.1 ± 0.2), and 2,890 (49.9 ± 0.3) Koreans over 20 years of age have participated in the studies in 1998, 2001, 2005, and 2007, respectively. The age-adjusted prevalence of metabolic syndrome increased significantly from 24.9% in 1998, 29.2% in 2001, and 30.4% in 2005 to 31.3% in 2007. Among the five components, the level of low HDL cholesterol increased the most, by 13.8% over the 10 years. Abdominal obesity and hypertriglyceridemia followed, with 8.7 and 4.9% increases, respectively. Because dyslipidemia and abdominal obesity were major factors in increasing the prevalence of metabolic syndrome in Koreans for the past 10 years, lifestyle interventions should be conducted at the national level to reduce the burden and consequences of metabolic syndrome.

  10. Left ventricular systolic dysfunction in asymptomatic Marfan syndrome patients is related to the severity of gene mutation: insights from the novel three dimensional speckle tracking echocardiography.

    Directory of Open Access Journals (Sweden)

    Mohamed Abd El Rahman

    Full Text Available In asymptomatic Marfan syndrome (MFS patients we evaluated the relationship between the types of fibrillin-1 (FBN1 gene mutation and possible altered left ventricular (LV function as assessed by three-dimensional speckle tracking echocardiography (3D-STE.Forty-five MFS patients (mean age 24 ± 15 years and 40 age-matched healthy controls were studied. Genetic evaluation for the FBN1 gene was carried on 32 MFS patients. Gene mutation (n = 15, 47% was classified as mild when the mutation resulted in nearly normally functioning protein, while mutations resulting in abnormally function protein were considered to be severe (n = 17, 53%. All patients and controls underwent 3D-STE for evaluation of LV function by an echocardiographer blinded to the results of the genetic testing. Compared to controls, MFS patients had significantly lower 3D-STE derived LV ejection fraction (EF, 57.43 ± 7.51 vs. 62.69 ± 4.76%, p = 0.0001, global LV longitudinal strain (LS, 14.85 ± 2.89 vs. 17.90 ± 2.01%, p = 0.0001, global LV circumferential strain (CS, 13.93 ± 2.81 vs. 16.82 ± 2.17%, p = 0.0001 and global LV area strain (AS, 25.76 ± 4.43 vs. 30.51 ± 2.61%, p = 0.0001. Apart from the global LV LS all these parameters were significantly lower in patients with severe gene mutation than in those with mild mutation (p < 0.05. In the multivariate linear regression analysis only the type of mutation had a significant influence on the 3D-STE derived LVEF (p = 0.017, global CS (p = 0.005 and global AS (p = 0.03.In asymptomatic MFS patients latent LV dysfunction can be detected using 3D STE. The LV dysfunction is mainly related to the severity of gene mutation, suggesting possible primary cardiomyopathy in MFS patients.

  11. Visual feedback of own tics increases tic frequency in patients with Tourette's syndrome.

    Science.gov (United States)

    Brandt, V C; Lynn, M T; Obst, M; Brass, M; Münchau, A

    2015-01-01

    Gilles de la Tourette syndrome (GTS) is characterized by motor and phonic tics. It is unknown how paying attention to one's own tics might modulate tic frequency. We determined tic frequency in freely ticcing GTS patients while they were being filmed. In Study 1, we investigated 12 patients (1) alone in a room (baseline); (2) alone in front of a mirror. In Study 2, we replicated these conditions in 16 patients and additionally examined how watching a video, in which the individual was shown not ticcing, affected their tic frequency. In both studies, tic frequency was significantly higher when patients watched themselves in a mirror compared to baseline. In contrast, tic frequency was significantly reduced in the video condition. Paying attention to one's own tics increases tic frequency when tics are not suppressed and appears to be specific for attention to tics, rather than attention to the self.

  12. Increasing the Understanding and Demonstration of Appropriate Affection in Children with Asperger Syndrome: A Pilot Trial

    Directory of Open Access Journals (Sweden)

    Kate Sofronoff

    2011-01-01

    Full Text Available The study was conducted to examine relationships between affectionate behavior in children with Asperger syndrome and variables likely to influence its expression (e.g., tactile sensitivity, social ability. It also evaluated the impact of a cognitive behavioral intervention that aimed to improve a child's understanding and expression of affection. Twenty-one children, aged 7 to 12 years, participated in the trial. The results showed significant correlations between measures of affection and tactile sensitivity and social ability. After attending the 5-week program, parents identified significant increases in the appropriateness of children's affectionate behavior both towards immediate family and people outside the immediate family, despite reporting no significant changes in their child's general difficulties with affectionate behavior. There was a significant improvement in children's understanding of the purpose of affection. The findings are discussed as well as the limitations of the study.

  13. Increasing the Understanding and Demonstration of Appropriate Affection in Children with Asperger Syndrome: A Pilot Trial

    Science.gov (United States)

    Sofronoff, Kate; Eloff, Johann; Sheffield, Jeanie; Attwood, Tony

    2011-01-01

    The study was conducted to examine relationships between affectionate behavior in children with Asperger syndrome and variables likely to influence its expression (e.g., tactile sensitivity, social ability). It also evaluated the impact of a cognitive behavioral intervention that aimed to improve a child's understanding and expression of affection. Twenty-one children, aged 7 to 12 years, participated in the trial. The results showed significant correlations between measures of affection and tactile sensitivity and social ability. After attending the 5-week program, parents identified significant increases in the appropriateness of children's affectionate behavior both towards immediate family and people outside the immediate family, despite reporting no significant changes in their child's general difficulties with affectionate behavior. There was a significant improvement in children's understanding of the purpose of affection. The findings are discussed as well as the limitations of the study. PMID:22937243

  14. Do patients with type 2 diabetes mellitus have an increased prevalence of Cushing's syndrome?

    DEFF Research Database (Denmark)

    Krarup, Therese; Krarup, Thure; Hagen, Claus

    2012-01-01

    Many clinical features are common for patients with type 2 diabetes mellitus (T2DM) and Cushing's syndrome (CS) such as central obesity, hypertension and dyslipidaemia. Patients with CS often have T2DM. Because T2DM is much more frequent than CS, it is possible that some patients with T2DM have...... increased production of cortisol and thus represent patients with CS. The aim of this review was to evaluate the prevalence of CS in patients with T2DM. A search was performed in PubMed and Medline. We found seven prospective studies, two case-control studies and two cross-sectional studies...... with T2DM varies widely between the different studies, ranging from 0-9.4%. This may be due to patient selection, differences in test methodology (including choice of test), cutoff values and different cortisol assays. The true prevalence of CS in T2DM has not been determined. We need more studies...

  15. Serious adverse neonatal outcomes such as 5-minute Apgar score of zero and seizures or severe neurologic dysfunction are increased in planned home births after cesarean delivery.

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    Amos Grünebaum

    Full Text Available The United States is with 37,451 home births in 2014 the country with the largest absolute number of home births among all developed countries. The purpose of this study was to examine the occurrence and risks of a 5-minute Apgar score of zero and neonatal seizures or serious neurologic dysfunction in women with a history of prior cesarean delivery for planned home vaginal birth after cesarean (VBAC, compared to hospital VBAC and hospital birth cesarean deliveries for term normal weight infants in the United States from 2007-2014. We report in this study outcomes of women who had one or more prior cesarean deliveries and included women who had a successful vaginal birth after a trial of labor after cesarean (TOLAC at home and in the hospital, and a repeat cesarean delivery in the hospital. We excluded preterm births (<37 weeks and infants weighing under 2500 g. Hospital VBACS were the reference. Women with a planned home birth VBAC had an approximately 10-fold and higher increase in adverse neonatal outcomes when compared to hospital VBACS and hospital repeat cesarean deliveries, a significantly higher incidence and risk of a 5-minute Apgar score of 0 of 1 in 890 (11.24/10,000, relative risk 9.04, 95% confidence interval 4-20.39, p<.0001 and an incidence of neonatal seizures or severe neurologic dysfunction of 1 in 814 (Incidence: 12.27/10,000, relative risk 11.19, 95% confidence interval 5.13-24.29, p<.0001. Because of the significantly increased neonatal risks, obstetric providers should therefore not offer or perform planned home TOLACs and for those desiring a VBAC should strongly recommend a planned TOLAC in the appropriate hospital setting. We emphasize that this stance should be accompanied by effective efforts to make TOLAC available in the appropriate hospital setting.

  16. Increased serum levels of hyaluronic acid in pregnancies complicated by preeclampsia or hemolysis, elevated liver enzymes, and low platelets syndrome.

    Science.gov (United States)

    Osmers, R G; Schütz, E; Diedrich, F; Wehry, B; Krauss, T; Oellerich, M; Kuhn, W

    1998-02-01

    Fifteen percent of patients who later have hemolysis, elevated liver enzymes, and low platelets syndrome develop initially have nonspecific symptoms. Early diagnosis could ensure adequate obstetric management; however, prognostic biochemical tests are lacking. We hypothesized that elevated hyaluronic acid serum levels might be an early indicator of hemolysis, elevated liver enzymes, and low platelets syndrome because it is known to be a sensitive marker of liver cell function. Hyaluronic acid in serum was measured in patients with normal pregnancies (n = 109) and in those patients with pregnancies complicated by preeclampsia (n = 14) or hemolysis, elevated liver enzymes, and low platelets syndrome (n = 11). A significant increase in hyaluronic acid serum concentrations was observed in patients with hemolysis, elevated liver enzymes, and low platelets syndrome or with preeclampsia (p hyaluronic acid serum levels in hemolysis, elevated liver enzymes, and low platelets syndrome correlated with the clinical severity of the individual course of disease as measured by intensive care unit time (r = 0.72; p hyaluronic acid in preeclampsia and hemolysis, elevated liver enzymes, and low platelets syndrome are significantly elevated and might play an important diagnostic and prognostic role in patients with hemolysis, elevated liver enzymes, and low platelets syndrome.

  17. Obesity, low testosterone levels and erectile dysfunction.

    Science.gov (United States)

    Diaz-Arjonilla, M; Schwarcz, M; Swerdloff, R S; Wang, C

    2009-01-01

    Obesity is an important risk factor for many common diseases including cardiovascular disease (CVD), type 2 diabetes, cancer and erectile dysfunction (ED). Adipose tissues produce a number of adipokines and cytokines, which affect endothelial and metabolic function resulting in insulin resistance and the metabolic syndrome (risks factors for CVD). Both ED and metabolic syndrome improve with a reduction in body mass index (BMI). The relationships among obesity, metabolic syndrome, ED, sex hormone-binding globulin (SHBG) and serum total and free testosterone levels are complex and often confusing to the physician. It is known that BMI is inversely proportional to serum total testosterone concentrations; low serum SHBG levels in obesity contribute to the low serum total testosterone. Recent studies show that BMI is also inversely proportional to free testosterone concentration. The characteristic low serum testosterone concentrations observed in obese men are also present in men with the metabolic syndrome and type 2 diabetes mellitus. A small proportion of men with ED have hypogonadism; however, the proportion increases if these men are obese with manifestations of the metabolic syndrome or type 2 diabetes mellitus. ED is a common symptom in patients with type 2 diabetes who also have low testosterone levels. This review describes the relationships between low serum testosterone concentrations and ED in obese patients and those with metabolic syndrome and type 2 diabetes mellitus.

  18. Reversible lacrimal gland-protective regulatory T-cell dysfunction underlies male-specific autoimmune dacryoadenitis in the non-obese diabetic mouse model of Sjögren syndrome

    Science.gov (United States)

    Lieberman, Scott M; Kreiger, Portia A; Koretzky, Gary A

    2015-01-01

    CD4+ CD25+ Foxp3+ regulatory T (Treg) cells are required to maintain immunological tolerance; however, defects in specific organ-protective Treg cell functions have not been demonstrated in organ-specific autoimmunity. Non-obese diabetic (NOD) mice spontaneously develop lacrimal and salivary gland autoimmunity and are a well-characterized model of Sjögren syndrome. Lacrimal gland disease in NOD mice is male-specific, but the role of Treg cells in this sex-specificity is not known. This study aimed to determine if male-specific autoimmune dacryoadenitis in the NOD mouse model of Sjögren syndrome is the result of lacrimal gland-protective Treg cell dysfunction. An adoptive transfer model of Sjögren syndrome was developed by transferring cells from the lacrimal gland-draining cervical lymph nodes of NOD mice to lymphocyte-deficient NOD-SCID mice. Transfer of bulk cervical lymph node cells modelled the male-specific dacryoadenitis that spontaneously develops in NOD mice. Female to female transfers resulted in dacryoadenitis if the CD4+ CD25+ Treg-enriched population was depleted before transfer; however, male to male transfers resulted in comparable dacryoadenitis regardless of the presence or absence of Treg cells within the donor cell population. Hormone manipulation studies suggested that this Treg cell dysfunction was mediated at least in part by androgens. Surprisingly, male Treg cells were capable of preventing the transfer of dacryoadenitis to female recipients. These data suggest that male-specific factors promote reversible dysfunction of lacrimal gland-protective Treg cells and, to our knowledge, form the first evidence for reversible organ-protective Treg cell dysfunction in organ-specific autoimmunity. PMID:25581706

  19. MRI suggests increased tonicity of the levator ani in women with interstitial cystitis/bladder pain syndrome.

    Science.gov (United States)

    Ackerman, A Lenore; Lee, Una J; Jellison, Forrest C; Tan, Nelly; Patel, Maitraya; Raman, Steven S; Rodriguez, Larissa V

    2016-01-01

    In interstitial cystitis/bladder pain syndrome (IC/BPS), pelvic floor dysfunction may contribute significantly to pelvic pain. To determine if pelvic floor hypertonicity manifests alterations on magnetic resonance imaging (MRI) in patients with IC/BPS, we retrospectively compared pelvic measurements between patients and controls. Fifteen women with IC/BPS and 15 age-matched controls underwent pelvic MRI. Two blinded radiologists measured the pelvic musculature, including the H- and M lines, vaginal length, urethral length and cross-sectional area, levator width and length, and posterior puborectalis angle. MRI measures and clinical factors, such as age, parity, and duration of symptoms, were compared using a paired, two-tailed t test. There were no significant differences in age, parity, or symptom duration between groups. Patients with IC/BPS exhibited shorter levator muscles (right: 5.0 ± 0.7 vs. 5.6 ± 0.8, left: 5.0 ± 0.8 vs. 5.7 ± 0.8 cm, P < 0.002) and a wider posterior puborectalis angle (35.0 ± 8.6 vs. 26.7 ± 7.9°, P < 0.01) compared with controls. The H line was shorter in patients with IC/BPS (7.8 ± 0.8 vs. 8.6 ± 0.9 cm, P < 0.02), while M line did not differ. Total urethral length was similar, but vaginal cuff and bladder neck distances to the H line were longer in patients with IC/BPS (5.7 ± 0.6 vs. 5.1 ± 0.9 cm, P < 0.02; 1.9 ± 0.4 vs. 1.4 ± 0.2 cm, P < 0.001, respectively). Patients with IC/BPS have pelvic floor hypertonicity on MRI, which manifests as shortened levator, increased posterior puborectalis angles, and decreased puborectal distances. We identified evidence of pelvic floor hypertonicity in patients with IC/BPS, which may contribute to or amplify pelvic pain. Future studies are necessary to determine the MRI utility in understanding pelvic floor hypertonicity in patients with IC/BPS.

  20. D1-like dopamine receptor dysfunction in the lateral habenula nucleus increased anxiety-like behavior in rat.

    Science.gov (United States)

    Chan, Jiangping; Ni, Yiling; Zhang, Pengyue; Zhang, Jichuan; Chen, Yanmei

    2017-01-06

    Lateral habenula (LHb) is important for emotional processing. It is a link node between forebrain and midbrain. LHb is reciprocally connected with ventral tegmental area, acting as a regulatory center for the dopaminergic system. However, the role of dopamine receptors in the LHb in emotional processing is less clear. In the present study, the expression of dopamine D1 and D2 receptors in LHb was testified by western blot. In addition, D1- or D2-like receptor agonist or antagonist was bilaterally administered into the LHb, anxiety-like and depressive-like behaviors were tested 15min later in rats. In addition, the effects of LHb dopamine receptor activation and inactivation on aversive learning and memory were assessed. Our results showed that: (1) activation and inhibition of D1R but not D2R in LHb increased anxiety-like behavior but decreased depressive-like behavior in rats. (2) D1R activation and inactivation in LHb impaired aversive memory acquisition but not consolidation in rats, D1R agonist also impaired aversive memory retrieval in rats. These results might provide new clues about how LHb was involved in emotional processing. Copyright © 2016 IBRO. Published by Elsevier Ltd. All rights reserved.

  1. Resveratrol prevents age-related memory and mood dysfunction with increased hippocampal neurogenesis and microvasculature, and reduced glial activation.

    Science.gov (United States)

    Kodali, Maheedhar; Parihar, Vipan K; Hattiangady, Bharathi; Mishra, Vikas; Shuai, Bing; Shetty, Ashok K

    2015-01-28

    Greatly waned neurogenesis, diminished microvasculature, astrocyte hypertrophy and activated microglia are among the most conspicuous structural changes in the aged hippocampus. Because these alterations can contribute to age-related memory and mood impairments, strategies efficacious for mitigating these changes may preserve cognitive and mood function in old age. Resveratrol, a phytoalexin found in the skin of red grapes having angiogenic and antiinflammatory properties, appears ideal for easing these age-related changes. Hence, we examined the efficacy of resveratrol for counteracting age-related memory and mood impairments and the associated detrimental changes in the hippocampus. Two groups of male F344 rats in late middle-age having similar learning and memory abilities were chosen and treated with resveratrol or vehicle for four weeks. Analyses at ~25 months of age uncovered improved learning, memory and mood function in resveratrol-treated animals but impairments in vehicle-treated animals. Resveratrol-treated animals also displayed increased net neurogenesis and microvasculature, and diminished astrocyte hypertrophy and microglial activation in the hippocampus. These results provide novel evidence that resveratrol treatment in late middle age is efficacious for improving memory and mood function in old age. Modulation of the hippocampus plasticity and suppression of chronic low-level inflammation appear to underlie the functional benefits mediated by resveratrol.

  2. Increased localization of APP-C99 in mitochondria-associated ER membranes causes mitochondrial dysfunction in Alzheimer disease.

    Science.gov (United States)

    Pera, Marta; Larrea, Delfina; Guardia-Laguarta, Cristina; Montesinos, Jorge; Velasco, Kevin R; Agrawal, Rishi R; Xu, Yimeng; Chan, Robin B; Di Paolo, Gilbert; Mehler, Mark F; Perumal, Geoffrey S; Macaluso, Frank P; Freyberg, Zachary Z; Acin-Perez, Rebeca; Enriquez, Jose Antonio; Schon, Eric A; Area-Gomez, Estela

    2017-11-15

    In the amyloidogenic pathway associated with Alzheimer disease (AD), the amyloid precursor protein (APP) is cleaved by β-secretase to generate a 99-aa C-terminal fragment (C99) that is then cleaved by γ-secretase to generate the β-amyloid (Aβ) found in senile plaques. In previous reports, we and others have shown that γ-secretase activity is enriched in mitochondria-associated endoplasmic reticulum (ER) membranes (MAM) and that ER-mitochondrial connectivity and MAM function are upregulated in AD We now show that C99, in addition to its localization in endosomes, can also be found in MAM, where it is normally processed rapidly by γ-secretase. In cell models of AD, however, the concentration of unprocessed C99 increases in MAM regions, resulting in elevated sphingolipid turnover and an altered lipid composition of both MAM and mitochondrial membranes. In turn, this change in mitochondrial membrane composition interferes with the proper assembly and activity of mitochondrial respiratory supercomplexes, thereby likely contributing to the bioenergetic defects characteristic of AD. © 2017 The Authors. Published under the terms of the CC BY 4.0 license.

  3. Endothelial Lipase Concentrations Are Increased in Metabolic Syndrome and Associated with Coronary Atherosclerosis.

    Directory of Open Access Journals (Sweden)

    2005-12-01

    Full Text Available BACKGROUND: Endothelial lipase (EL, a new member of the lipase family, has been shown to modulate high-density lipoprotein (HDL-C metabolism and atherosclerosis in mouse models. We hypothesized that EL concentrations would be associated with decreased HDL-C and increased atherosclerosis in humans. METHODS AND FINDINGS: Healthy individuals with a family history of premature coronary heart disease (n = 858 were recruited as part of the Study of the Inherited Risk of Atherosclerosis. Blood was drawn in the fasting state before and, in a subgroup (n = 510, after administration of a single dose of intravenous heparin. Plasma lipids were measured enzymatically, lipoprotein subclasses were assessed by nuclear magnetic resonance, and coronary artery calcification (CAC was quantified by electron beam computed tomography. Plasma EL mass was measured using a newly developed enzyme-linked immunosorbent assay. Median EL mass in pre-heparin plasma was 442 (interquartile range = 324-617 ng/ml. Median post-heparin mass was approximately 3-fold higher, 1,313 (888-1,927 ng/ml. The correlation between pre-heparin EL mass and post-heparin EL mass was 0.46 (p < 0.001. EL mass concentrations in both pre- and post-heparin plasma significantly correlated with all NCEP ATPIII-defined metabolic syndrome factors: waist circumference (r = 0.28 and 0.22, respectively, p < 0.001 for each, blood pressure (r = 0.18 and 0.24, p < 0.001 for each, triglycerides (r = 0.22, p < 0.001; and 0.13, p = 0.004, HDL cholesterol (r = -0.11, p = 0.002; and -0.18, p < 0.001, and fasting glucose (r = 0.11 and 0.16, p = 0.001 for both. EL mass in both routine (odds ratio [OR] = 1.67, p = 0.01 and post-heparin (OR = 2.42, p = 0.003 plasma was associated with CAC as determined by ordinal regression after adjustment for age, gender, waist circumference, vasoactive medications, hormone replacement therapy (women, and established cardiovascular risk factors. CONCLUSIONS: We report, to our knowledge

  4. Reversing dobutamine-induced tachycardia using ivabradine increases stroke volume with neutral effect on cardiac energetics in left ventricular post-ischaemia dysfunction.

    Science.gov (United States)

    Bakkehaug, J P; Naesheim, T; Torgersen Engstad, E; Kildal, A B; Myrmel, T; How, O-J

    2016-10-01

    Compensatory tachycardia can potentially be deleterious in acute heart failure. In this study, we tested a therapeutic strategy of combined inotropic support (dobutamine) and selective heart rate (HR) reduction through administration of ivabradine. In an open-chest pig model (n = 12) with left ventricular (LV) post-ischaemia dysfunction, cardiac function was assessed by LV pressure catheter and sonometric crystals. Coronary flow and blood samples from the coronary sinus were used to measure myocardial oxygen consumption (MVO2 ). LV energetics was assessed by comparing MVO2 with cardiac work at a wide range of workloads. In the post-ischaemia heart, dobutamine (5 μg kg(-1)  min(-1) ) increased cardiac output (CO) by increasing HR from 102 ± 21 to 131 ± 16 bpm (beats per min; P efficiency. Similar findings on efficiency and LV function were also seen using an ex vivo working mouse heart protocol. A combined infusion of dobutamine and ivabradine had a neutral effect on post-ischaemia LV efficiency and increased left ventricular output without an increase in HR. © 2016 Scandinavian Physiological Society. Published by John Wiley & Sons Ltd.

  5. Erectile Dysfunction in Chronic Prostatitis/Chronic Pelvic Pain Syndrome: Outcomes from a Multi-Center Study and Risk Factor Analysis in a Single Center.

    Directory of Open Access Journals (Sweden)

    Yadong Zhang

    Full Text Available The aim of this study was to investigate the prevalence of erectile dysfunction (ED in patients with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS and explore the influence of UPOINT domains, National Institutes of Health-CP symptom index (NIH-CPSI and other factors on ED prevalence. This was a prospective study of consecutive patients with CP/CPPS seen at 11 tertiary hospitals during January-July 2014. ED was diagnosed as a score of<21 on the International Index of Erectile Function (IIEF-5. Patients from one center were evaluated by the UPOINT system and NIH-CPSI. Each patient was assessed using clinical examination, asocio-demographic questionnaire, the Patient Health Questionnaire (PHQ, the Pain Catastrophizing Scale (PCS, NIH-CPSI and IIEF-5.1406 patients from 11 centers (mean age, 32.18 years; range 18-60 years were enrolled. ED was found in 638/1406 patients (45.4%, and was categorized as mild in 291(45.6%, moderate in 297(46.6% and severe in50(7.7%. 192 patients from one center(mean age,31.3 years; range 18-57 years were further studied.IIEF-5 score correlated negatively with NIH-CPSI(r = 0.251, PHQ (r = 0.355 and PCS (r = 0.322scores (P<0.001.PHQ score correlated positively with NIH-CPSI (r = 0.586 and PCS(r = 0.662 scores (P<0.001.NIH-CPSI, PHQ, PCS and IIEF-5 scores did not differ significantly between class IIIA and IIIB CP/CPPS. Multivariate logistic regression showed that UPOINT psychological (P domain and NIH-CPSI symptom severity were independent risk factors for ED in CP/CPPS. It is concluded that psychological factors and symptom severity are independent risk factors for ED in CP/CPPS.

  6. [Characteristics and treatment of multiple organ dysfunction syndrome in patients with trauma in the Wenchuan earthquake on 12th May, 2008].

    Science.gov (United States)

    Pu, Hong; Jin, Xiao-dong; Deng, Yi-yun; Kang, Yan; Xie, Xiao-qi; Liao, Xue-lian; Yang, Ling; Wang, Lan; Wang, Cun-zhen

    2009-01-01

    To analyze the characteristics and treatment of the multiple organ dysfunction syndrome (MODS) in patients in the Wenchuan earthquake on 12th May, 2008, in order to provide theoretical reference for future care for such patients. Characteristics of MODS in these patients were analyzed, differences between survivors and non-survivors were compared, and therapeutic measures, and the time of the treatment for MODS in patients with earthquake related injury or illness who were admitted to West China Hospital from 12th May to 20th June, 2008, were retrospectively analyzed. A total of 42 MODS patients were admitted to intensive care unit (ICU). Both the acute physiology and chronic health evaluation II (APACHE II) score and predicted death risk were lowering during the course of therapy. Fractures of bones of extremities were predominant in the earthquake related diseases, with an incidence of 45.2%. The actual mortality of MODS (33.3%) was lower than the predicted death risk (41.5%). The age, the time of receiving the first treatment in ICU after the earthquake, the Glasgow score, the oxygen index, blood creatinine level, platelet count, and vasoactive agent pumping velocity were significantly different between survivors and non-survivors (all Pearthquake. Fracture of bones of extremities are predominant injury in the earthquake related diseases, and the cause of death is closely associated with multiple trauma and ARF, systemic infection of large wound surfaces. The central nervous system, respiratory system, circulatory system, renal function, circulatory system should be monitored during the treatment. Adequate preparedness is essential in order to cope with the peak period of occurrence of serious complications after a disaster.

  7. Neuroimmune interactions in Sjögren's syndrome: relationship of exocrine gland dysfunction with autoantibodies to muscarinic acetylcholine receptor-3 and mental health status parameters.

    Science.gov (United States)

    Deák, Magdolna; Szvetnik, Attila; Balog, Attila; Sohár, Nicolette; Varga, Renáta; Pokorny, Gyula; Tóth, Gábor; Kiss, Mária; Kovács, László

    2013-01-01

    Antimuscarinic acetylcholine receptor-3 (m3AChR) autoantibodies have been described in primary Sjögren's syndrome (pSS). The aim of this study was to compare various methods for their detection and to assess the contributions of anti-m3AChR and other immunological and psychosocial factors to the pathomechanism of secondary SS (sSS). Sixty-five rheumatoid arthritis (RA) patients, 103 systemic lupus erythematosus (SLE) patients, 76 pSS patients and 50 controls were compared. Three immunodominant epitopes of m3AChR were synthesized and used in ELISA. Two extracellular epitopes were also prepared in fusion with glutathione-S-transferase and one in conjugation with bovine serum albumin. Mental health status was assessed with the 36-item Short-Form Health Survey and Functional Assessment of Chronic Illness Therapy fatigue scale. Correlations were evaluated between glandular function and anti-m3AChR positivities and specificities, features of SLE and RA, and mental health parameters. Fourteen RA and 27 SLE patients had sSS. The autoantibody levels to all epitopes of m3AChR were significantly higher in pSS and SLE patients than in the controls. The fusion protein forms discriminated RA from pSS and SLE; furthermore, the YNIP fusion protein also distinguished pSS from SLE. The prevalence and the mean levels of all autoantibodies did not differ statistically between sicca and non-sicca SLE or RA patients. Glandular dysfunction correlated with higher age in SLE and RA and an impaired health-related quality of life in SLE. The second and third extracellular loops of m3AChR are antigenic in pSS. Immunoassays with antigens as fusion peptides demonstrate the best performance. Sicca SLE patients have worse mental health status. Anti-m3AChR antibodies represent a peculiar example of neuroimmune interactions. Copyright © 2012 S. Karger AG, Basel.

  8. Serious adverse neonatal outcomes such as 5-minute Apgar score of zero and seizures or severe neurologic dysfunction are increased in planned home births after cesarean delivery.

    Science.gov (United States)

    Grünebaum, Amos; McCullough, Laurence B; Arabin, Birgit; Chervenak, Frank A

    2017-01-01

    The United States is with 37,451 home births in 2014 the country with the largest absolute number of home births among all developed countries. The purpose of this study was to examine the occurrence and risks of a 5-minute Apgar score of zero and neonatal seizures or serious neurologic dysfunction in women with a history of prior cesarean delivery for planned home vaginal birth after cesarean (VBAC), compared to hospital VBAC and hospital birth cesarean deliveries for term normal weight infants in the United States from 2007-2014. We report in this study outcomes of women who had one or more prior cesarean deliveries and included women who had a successful vaginal birth after a trial of labor after cesarean (TOLAC) at home and in the hospital, and a repeat cesarean delivery in the hospital. We excluded preterm births (cesarean deliveries, a significantly higher incidence and risk of a 5-minute Apgar score of 0 of 1 in 890 (11.24/10,000, relative risk 9.04, 95% confidence interval 4-20.39, p<.0001) and an incidence of neonatal seizures or severe neurologic dysfunction of 1 in 814 (Incidence: 12.27/10,000, relative risk 11.19, 95% confidence interval 5.13-24.29, p<.0001). Because of the significantly increased neonatal risks, obstetric providers should therefore not offer or perform planned home TOLACs and for those desiring a VBAC should strongly recommend a planned TOLAC in the appropriate hospital setting. We emphasize that this stance should be accompanied by effective efforts to make TOLAC available in the appropriate hospital setting.

  9. Thyroid function in adult Nigerians with metabolic syndrome ...

    African Journals Online (AJOL)

    Introduction: metabolic syndrome and thyroid dysfunction are two common disorders encountered in the metabolic clinic. Recently, there has been increased interest in the association between the two disorders because of the similarities between symptoms of hypothyroidism and components of the metabolic syndrome.

  10. Increased serum free tryptophan in patients with diarrhea-predominant irritable bowel syndrome.

    Science.gov (United States)

    Christmas, David M; Badawy, Abdulla A-B; Hince, Dana; Davies, Simon J C; Probert, Christopher; Creed, Tom; Smithson, John; Afzal, Muhammad; Nutt, David J; Potokar, John P

    2010-10-01

    Irregularities of serotonin function in irritable bowel syndrome (IBS) may be due to changes in the metabolism of the serotonin precursor l-tryptophan. Dietary alteration of tryptophan intake may impact upon the mood and bowel symptoms of IBS. We hypothesized that diarrhea-predominant irritable bowel syndrome (d-IBS) patients would exhibit an increase in plasma tryptophan due to alterations in tryptophan metabolism. We also hypothesized that a diet low in tryptophan would reverse this change and reduce symptoms. Thirteen patients with d-IBS had fasting serum free and total tryptophan, large neutral amino acids, and 6 kynurenine metabolites measured before and after 2 weeks of a strict dairy-free diet. Baseline tryptophan parameters were compared with an age- and sex-matched control group. Changes in the specific tryptophan parameters before and after dairy-free diet were correlated with symptoms of IBS and mood. Compared with the control group, d-IBS patients at baseline exhibited significantly higher free serum tryptophan (10.5 ± 4.35 vs 4.75 ± 2.43 μmol/L [means ± standard deviation], P = .006) and significantly lower tryptophan dioxygenase and total tryptophan oxidation as measured by the kynurenine to free tryptophan and total kynurenines to free tryptophan ratios (23.37 ± 10.12 vs 55.33 ± 16.02, P < .001 and 49.34 ± 17.84 vs 258.46 ± 98.67, P < .001, respectively). Dairy-free diet did not modulate metabolites of the kynurenine pathway or symptoms. Tryptophan metabolism along the kynurenine pathway is inhibited in d-IBS, and a dairy-free diet does not alter this. Our findings are consistent with possible enhanced serotonin activity in d-IBS. Copyright © 2010 Elsevier Inc. All rights reserved.

  11. Increased upper airway collapsibility in a mouse model of Marfan syndrome.

    Science.gov (United States)

    da Palma, Renata Kelly; Farré, Ramon; Montserrat, Josep Maria; Gorbenko Del Blanco, Darya; Egea, Gustavo; de Oliveira, Luís Vicente Franco; Navajas, Daniel; Almendros, Isaac

    2015-02-01

    Marfan syndrome (MFS) is a genetic disorder caused by mutations in the FBN1 gene that codifies for fibrilin-1. MFS affects elastic fiber formation and the resulting connective tissue shows abnormal tissue laxity and organization. Although an increased prevalence of obstructive sleep apnea among patients with MFS has been described, the potential effects of this genetic disease on the collapsible properties of the upper airway are unknown. The aim of this study was to assess the collapsible properties of the upper airway in a mouse model of MFS Fbn1((C1039G/+)) that is representative of most of the clinical manifestations observed in human patients. The upper airway in wild-type and Marfan mice was cannulated and its critical pressure (Pcrit) was measured in vivo by increasing the negative pressure through a controlled pressure source. Pcrit values from MFS mice were higher (less negative) compared to wild-type mice (-3.1±0.9cmH2O vs. -7.8±2.0cm H2O) suggesting that MFS increases the upper airway collapsibility, which could in turn explain the higher prevalence of OSA in MFS patients. Copyright © 2014 Elsevier B.V. All rights reserved.

  12. Metabolic Syndrome Increases the Risk of Sudden Sensorineural Hearing Loss in Taiwan: A Case-Control Study.

    Science.gov (United States)

    Chien, Chen-Yu; Tai, Shu-Yu; Wang, Ling-Feng; Hsi, Edward; Chang, Ning-Chia; Wu, Ming-Tsang; Ho, Kuen-Yao

    2015-07-01

    Sudden sensorineural hearing loss has been reported to be associated with diabetes mellitus, hypertension, and hyperlipidemia in previous studies. The aim of this study was to examine whether metabolic syndrome increases the risk of sudden sensorineural hearing loss in Taiwan. A case-control study. Tertiary university hospital. We retrospectively investigated 181 cases of sudden sensorineural hearing loss and 181 controls from the Department of Otorhinolaryngology, Kaohsiung Medical University Hospital, in southern Taiwan from 2010 to 2012, comparing their clinical variables. We analyzed the relationship between metabolic syndrome and sudden sensorineural hearing loss. Metabolic syndrome was defined according to the National Cholesterol Education Program Adult Treatment Panel III with Asian modifications. The demographic and clinical characteristics, audiometry results, and outcome were reviewed. Subjects with metabolic syndrome had a 3.54-fold increased risk (95% confidence interval [CI] = 2.00-6.43, P diabetes mellitus, hypertension, and hyperlipidemia. With increases in the number of metabolic syndrome components, the risk of sudden sensorineural hearing loss increased (P for trend Vertigo was associated with a poor outcome (P = .02; 95% CI = 1.13~5.13, adjusted odds ratio = 2.39). The hearing loss pattern may influence the outcome of sudden sensorineural hearing loss (P Vertigo and total hearing loss were indicators of a poor outcome in sudden sensorineural hearing loss. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2015.

  13. Progressive posterior cortical dysfunction

    Directory of Open Access Journals (Sweden)

    Fábio Henrique de Gobbi Porto

    Full Text Available Abstract Progressive posterior cortical dysfunction (PPCD is an insidious syndrome characterized by prominent disorders of higher visual processing. It affects both dorsal (occipito-parietal and ventral (occipito-temporal pathways, disturbing visuospatial processing and visual recognition, respectively. We report a case of a 67-year-old woman presenting with progressive impairment of visual functions. Neurologic examination showed agraphia, alexia, hemispatial neglect (left side visual extinction, complete Balint's syndrome and visual agnosia. Magnetic resonance imaging showed circumscribed atrophy involving the bilateral parieto-occipital regions, slightly more predominant to the right . Our aim was to describe a case of this syndrome, to present a video showing the main abnormalities, and to discuss this unusual presentation of dementia. We believe this article can contribute by improving the recognition of PPCD.

  14. Deranged Bioenergetics and Defective Redox Capacity in T Lymphocytes and Neutrophils Are Related to Cellular Dysfunction and Increased Oxidative Stress in Patients with Active Systemic Lupus Erythematosus

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    Ko-Jen Li

    2012-01-01

    Full Text Available Urinary excretion of N-benzoyl-glycyl-Nε-(hexanonyllysine, a biomarker of oxidative stress, was higher in 26 patients with active systemic lupus erythematosus (SLE than in 11 non-SLE patients with connective tissue diseases and in 14 healthy volunteers. We hypothesized that increased oxidative stress in active SLE might be attributable to deranged bioenergetics, defective reduction-oxidation (redox capacity, or other factors. We demonstrated that, compared to normal cells, T lymphocytes (T and polymorphonuclear neutrophils (PMN of active SLE showed defective expression of facilitative glucose transporters GLUT-3 and GLUT-6, which led to increased intracellular basal lactate and decreased ATP production. In addition, the redox capacity, including intracellular GSH levels and the enzyme activity of glutathione peroxidase (GSH-Px and γ-glutamyl-transpeptidase (GGT, was decreased in SLE-T. Compared to normal cells, SLE-PMN showed decreased intracellular GSH levels, and GGT enzyme activity was found in SLE-PMN and enhanced expression of CD53, a coprecipitating molecule for GGT. We conclude that deranged cellular bioenergetics and defective redox capacity in T and PMN are responsible for cellular immune dysfunction and are related to increased oxidative stress in active SLE patients.

  15. Metformin increases pressure pain threshold in lean women with polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Kiałka M

    2016-08-01

    Full Text Available Marta Kiałka,1 Tomasz Milewicz,1 Krystyna Sztefko,2 Iwona Rogatko,2 Renata Majewska3 1Department of Gynecological Endocrinology, Jagiellonian University, Medical College, Kraków, Poland; 2Department of Clinical Biochemistry, Jagiellonian University, Medical College, Kraków, Poland; 3Department of Epidemiology, Chair of Epidemiology and Preventive Medicine, Jagiellonian University Medical College, Kraków, Poland Background: Despite the strong preclinical rationale, there are only very few data considering the utility of metformin as a potential pain therapeutic in humans. The aim of this study was to determine the association between metformin therapy and pressure pain threshold (PPT in lean women with polycystic ovary syndrome (PCOS. We hypothesized that metformin therapy in lean PCOS women increases PPT. Materials and methods: Twenty-seven lean PCOS women with free androgen index phenotype >5 and 18 lean healthy controls were enrolled in the study. Fifteen of the PCOS women were randomly assigned to be treated with metformin 1,500 mg daily for 6 months. PPT and plasma β-endorphin levels were measured in all women at the beginning of the study and after 6 months of observation. Results: We observed an increase in PPT values measured on deltoid and trapezius muscle in the PCOS with metformin group after 6 months of metformin administration (4.81±0.88 kg/cm², P<0.001 on deltoid muscle, and 5.71±1.16 kg/cm² on trapezius muscle. We did not observe any significant changes in PPT values in the PCOS without treatment group and in controls. We did not observe any significant changes in serum β-endorphin levels in any studied groups during the 6-month observation. Conclusion: We conclude that metformin therapy increases PPT in lean PCOS women, without affecting plasma β-endorphin concentration. Our results may suggest the potential role of metformin in pain therapy. We propose that larger, randomized studies on metformin impact on pain

  16. Increased anxiety-like behavior is associated with the metabolic syndrome in non-stressed rats

    Science.gov (United States)

    Díaz, Daniel; Rico-Rosillo, Guadalupe; Vega-Robledo, Gloria Bertha; Zambrano, Elena

    2017-01-01

    Metabolic syndrome (MS) is a cluster of signs that increases the risk to develop diabetes mellitus type 2 and cardiovascular disease. In the last years, a growing interest to study the relationship between MS and psychiatric disorders, such as depression and anxiety, has emerged obtaining conflicting results. Diet-induced MS rat models have only examined the effects of high-fat or mixed cafeteria diets to a limited extent. We explored whether an anxiety-like behavior was associated with MS in non-stressed rats chronically submitted to a high-sucrose diet (20% sucrose in drinking water) using three different anxiety paradigms: the shock-probe/burying test (SPBT), the elevated plus-maze (EPM) and the open-field test (OFT). Behaviorally, the high-sucrose diet group showed an increase in burying behavior in the SPBT. Also, these animals displayed both avoidance to explore the central part of the arena and a significant increase in freezing behavior in the OFT and lack of effects in the EPM. Also, high-sucrose diet group showed signs of an MS-like condition: significant increases in body weight and body mass index, abdominal obesity, hypertension, hyperglycemia, hyperinsulinemia, and dyslipidemia. Plasma leptin and resistin levels were also increased. No changes in plasma corticosterone levels were found. These results indicate that rats under a 24-weeks high-sucrose diet develop an MS associated with an anxiety-like behavior. Although the mechanisms underlying this behavioral outcome remain to be investigated, the role of leptin is emphasized. PMID:28463967

  17. Aortic root pathology in Marfan syndrome increases the risk of migraine with aura

    DEFF Research Database (Denmark)

    Koppen, H; Vis, J C; Gooiker, D J

    2012-01-01

    To assess the lifetime prevalence of migraine in patients with Marfan syndrome (MFS) and to investigate a history of aortic root replacement (AR) as a possible risk factor.......To assess the lifetime prevalence of migraine in patients with Marfan syndrome (MFS) and to investigate a history of aortic root replacement (AR) as a possible risk factor....

  18. Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity

    DEFF Research Database (Denmark)

    Belling, Kirstine González-Izarzugaza; Russo, Francesco; Jensen, Anders Boeck

    2017-01-01

    Klinefelter syndrome (KS) (47,XXY) is the most common male sex chromosome aneuploidy. Diagnosis and clinical supervision remain a challenge due to varying phenotypic presentation and insufficient characterization of the syndrome. Here we combine health data-driven epidemiology and molecular level...

  19. Strategies to Increase the Physical Activity Participation of Young Adults with Asperger Syndrome in Community Programs

    Science.gov (United States)

    Hamm, Jessica; Driver, Simon

    2015-01-01

    Currently one in 50 American school-age children is diagnosed with Autism. Although Asperger Syndrome is no longer acknowledged as a separate diagnosis, this article refers to high-functioning individuals with Autism as having Asperger Syndrome, since it is a culturally relevant term. One of the most challenging times for individuals with Asperger…

  20. Increased Adipocyte Size, Macrophage Infiltration, and Adverse Local Adipokine Profile in Perirenal Fat in Cushing's Syndrome

    NARCIS (Netherlands)

    Roerink, S.H.P.P.; Wagenmakers, M.A.E.M.; Langenhuijsen, J.F.; Ballak, D.B.; Rooijackers, H.M.M.; D'Ancona, F.C.H.; Dielen, F.M. van; Smit, J.W.A.; Plantinga, T.S.; Netea-Maier, R.T.; Hermus, A.R.M.M.

    2017-01-01

    OBJECTIVE: To analyze changes in fat cell size, macrophage infiltration, and local adipose tissue adipokine profiles in different fat depots in patients with active Cushing's syndrome. METHODS: Subcutaneous (SC) and perirenal (PR) adipose tissue of 10 patients with Cushing's syndrome was compared to

  1. Dehydration at admission increased the need for dialysis in hemolytic uremic syndrome children.

    Science.gov (United States)

    Balestracci, Alejandro; Martin, Sandra Mariel; Toledo, Ismael; Alvarado, Caupolican; Wainsztein, Raquel Eva

    2012-08-01

    Oligoanuric forms of postdiarrheal hemolytic uremic syndrome (D+ HUS) usually have more severe acute stage and higher risk of chronic sequelae than nonoligoanuric forms. During the diarrheal phase, gastrointestinal losses could lead to dehydration with pre-renal injury enhancing the risk of oligoanuric D+ HUS. Furthermore, it had been shown that intravenous volume expansion during the prodromal phase could decrease the frequency of oligoanuric renal failure. Thus, we performed this retrospective study to determine whether dehydration on admission is associated with increased need for dialysis in D+ HUS patients. Data from 137 children was reviewed, which were divided into two groups according to their hydration status at admission: normohydrated (n = 86) and dehydrated (n = 51). Laboratory parameters of the dehydrated patients reflected expected deteriorations (higher urea, higher hematocrit and lower sodium, bicarbonate, and pH) than normohydrated ones. Likewise, the dehydrated group had a higher rate of vomiting and need for dialysis (70.6 versus 40.7 %, p = 0.0007). Our data suggests that dehydration at hospital admission might represent a concomitant factor aggravating the intrinsic renal disease in D+ HUS patients increasing the need for dialysis. Therefore, the early recognition of patients at risk of D+ HUS is encouraged to guarantee a well-hydrated status.

  2. Late renal dysfunction in adult survivors of bone marrow transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Lawton, C.A.; Cohen, E.P.; Barber-Derus, S.W.; Murray, K.J.; Ash, R.C.; Casper, J.T.; Moulder, J.E. (Medical College of Wisconsin Affiliated Hospitals, Milwaukee (USA))

    1991-06-01

    Until recently long-term renal toxicity has not been considered a major late complication of bone marrow transplantation (BMT). Late renal dysfunction has been described in a pediatric population status post-BMT which was attributable to the radiation in the preparatory regimen. A thorough review of adults with this type of late renal dysfunction has not previously been described. Fourteen of 103 evaluable adult patients undergoing allogeneic (96) or autologous (7) bone marrow transplantation, predominantly for leukemia and lymphomas, at the Medical College of Wisconsin (Milwaukee, WI) have had a syndrome of renal insufficiency characterized by increased serum creatinine, decreased glomerular filtration rate, anemia, and hypertension. This syndrome developed at a median of 9 months (range, 4.5 to 26 months) posttransplantation in the absence of specific identifiable causes. The cumulative probability of having this renal dysfunction is 20% at 1 year. Renal biopsies performed on seven of these cases showed the endothelium widely separated from the basement membrane, extreme thickening of the glomerular basement membrane, and microthrombi. Previous chemotherapy, antibiotics, and antifungals as well as cyclosporin may add to and possibly potentiate a primary chemoradiation marrow transplant renal injury, but this clinical syndrome is most analogous to clinical and experimental models of radiation nephritis. This late marrow transplant-associated nephritis should be recognized as a potentially limiting factor in the use of some intensive chemoradiation conditioning regimens used for BMT. Some selective attenuation of the radiation to the kidneys may decrease the incidence of this renal dysfunction.

  3. Diagnosis of temporomandibular dysfunction syndrome - image quality at 1.5 and 3.0 Tesla magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Schmid-Schwap, Martina; Bristela, Margit; Piehslinger, Eva [Bernhard Gottlieb University Clinic of Dentistry, Department of Fixed and Removable Prosthodontics, Vienna (Austria); Drahanowsky, Wolfgang; Robinson, Soraya [Diagnostic Center Urania, Vienna (Austria); Kundi, Michael [Medical University of Vienna, Institute of Environmental Health, Center for Public Health, Vienna (Austria)

    2009-05-15

    The purpose of this study was to examine the differences in expert ratings of quality of magnetic resonance images (MRI) of the temporomandibular joint in 24 patients with suspected anterior disc displacement examined in randomized order at 1.5 and 3.0 T. Parasagittal (closed and opened mouth) and paracoronal sections were performed with a surface coil. Two experienced examiners blinded to patient status and type of MRI diagnosed the images according to position of condyle, position and changes in the signal, and disc shape. In addition, perceptibility of position and disc shape were assessed. A highly significant difference in the perceptibility of disc shape (P < 0.001) and position (P < 0.001) was obtained. With comparable examination sequences and identical resolution, the 3.0 T MRI of the temporomandibular joint increases the perceptibility of joint structures. (orig.)

  4. Prenatal Maternal Smoking and Increased Risk for Tourette Syndrome and Chronic Tic Disorders.

    Science.gov (United States)

    Browne, Heidi A; Modabbernia, Amirhossein; Buxbaum, Joseph D; Hansen, Stefan N; Schendel, Diana E; Parner, Erik T; Reichenberg, Abraham; Grice, Dorothy E

    2016-09-01

    We assessed the role of prenatal maternal smoking in risk for Tourette syndrome and chronic tic disorder (TS/CT) and pediatric-onset obsessive-compulsive disorder (OCD). In an analysis of 73,073 singleton pregnancies from the Danish National Birth Cohort, we calculated incidence rates (IR) per 1,000 person-year for TS/CT and OCD. We then determined crude and adjusted hazard ratios and 95% CIs associated with prenatal maternal smoking, considering smoking as a dichotomous (yes/no) variable or a stratified variable (no smoking, light smoking, and heavy smoking [≥10 cigarettes/day]). Additional analyses examined the effect of maternal smoking on risk for TS/CT with other comorbid psychiatric conditions. In final adjusted analyses, heavy smoking was associated with a 66% increased risk for TS/CT (adjusted hazard ratio = 1.66, 95% CI = 1.17-2.35). In addition, heavy smoking was associated with a 2-fold increased risk for TS/CT with comorbid attention-deficit/hyperactivity disorder (ADHD), and both light and heavy smoking were associated with a more than 2-fold increased risk for TS/CT with any non-ADHD psychiatric comorbidity. Our parallel analyses of pediatric-onset OCD were likely underpowered but showed similar relationships. Prenatal maternal smoking was associated with increased risk for TS/CT as well as TS/CT with comorbid psychiatric conditions, even after adjustment for several important variables, including maternal psychiatric history, socioeconomic status, and partner smoking. Our findings point to a pathway linking prenatal tobacco exposure and altered brain development to TS/CT. Copyright © 2016 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

  5. Altered TGF-β endocytic trafficking contributes to the increased signaling in Marfan syndrome.

    Science.gov (United States)

    Siegert, Anna-Maria; Serra-Peinado, Carla; Gutiérrez-Martínez, Enric; Rodríguez-Pascual, Fernando; Fabregat, Isabel; Egea, Gustavo

    2018-02-01

    The main cardiovascular alteration in Marfan syndrome (MFS) is the formation of aortic aneurysms in which augmented TGF-β signaling is reported. However, the primary role of TGF-β signaling as a molecular link between the genetic mutation of fibrillin-1 and disease onset is controversial. The compartmentalization of TGF-β endocytic trafficking has been shown to determine a signaling response in which clathrin-dependent internalization leads to TGF-β signal propagation, and caveolin-1 (CAV-1) associated internalization leads to signal abrogation. We here studied the contribution of endocytic trafficking compartmentalization to increased TGF-β signaling in vascular smooth muscle cells (VSMC) from MFS patients. We examined molecular components involved in clathrin- (SARA, SMAD2) and caveolin-1- (SMAD7, SMURF2) dependent endocytosis. Marfan VSMC showed higher recruitment of SARA and SMAD2 to membranes and their increased interaction with TGF-β receptor II, as well as higher colocalization of SARA with the early endosome marker EEA1. We assessed TGF-β internalization using a biotinylated ligand (b-TGF-β), which colocalized equally with either EEA1 or CAV-1 in VSMC from Marfan patients and controls. However, in Marfan cells, colocalization of b-TGF-β with SARA and EEA1 was increased and accompanied by decreased colocalization with CAV-1 at EEA1-positive endosomes. Moreover, Marfan VSMC showed higher transcriptional levels and membrane enrichment of RAB5. Our results indicate that increased RAB5-associated SARA localization to early endosomes facilitates its TGF-β receptor binding and phosphorylation of signaling mediator SMAD2 in Marfan VSMC. This is accompanied by a reduction of TGF-β sorting into multifunctional vesicles containing cargo from both internalization pathways. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Tourette syndrome increases risk of bone fractures: a population-based cohort study.

    Science.gov (United States)

    Lu, Yuan-Yuan; Wang, Ming-Yu; Wei, I-Hua; Lin, Che-Chen; Huang, Chih-Chia

    2017-05-01

    This study assesses the risk of fractures among children with Tourette syndrome (TS), and identifies the effects of comorbidities and antipsychotics. We randomly sampled the claims data of 1 million enrollees in the National Health Insurance program of Taiwan, and identified 1258 children with TS diagnosed between 2000 and 2010. Additionally, 12,580 children without TS who were frequency matched for sex, age, residential area, parental occupation, and index year were identified for comparison. The children's cases were followed until December 31, 2010, or censored to ascertain incident fractures cases and associations with comorbidities of attention-deficit/hyperactivity disorder (ADHD) or obsessive-compulsive disorder (OCD) and treatments with antipsychotics, antidepressants, or clonidine. The TS cohort had a 1.27-fold higher incidence of fractures than did the comparison cohort (190.37 vs. 149.94 per 10,000 person-years), with an adjusted hazard ratio (HR) of 1.28 [95% confidence interval (CI) 1.06-1.55] based on multivariable Cox regression analysis. This increased risk of fractures was apparent for fractures of the skull, neck, and spine. Comorbid ADHD and OCD did not result in an additional risk of fractures. The children without both ADHD and OCD were also at a higher risk of fractures, indicating that TS alone increases the risk of fractures. The children taking antipsychotics had a reduced risk of fractures, and the adjusted HR decreased to 1.17 (95% CI 0.90-1.52). Children with TS have an increased risk of fractures. ADHD and OCD do not increase the risk further.

  7. Increase in Mexican and Latin American scientific articles on irritable bowel syndrome.

    Science.gov (United States)

    Porras, R; López-Colombo, A; Schmulson, M

    2015-01-01

    There is an implied perception that little scientific information on irritable bowel syndrome (IBS) comes out of Mexico and Latin America in the international medical literature, but the number and tendencies of articles from the region on IBS are not known. To determine the number and type of Mexican and Latin American articles on IBS published between 1990-2015. A systematic search of Medline was carried out employing the terms « Irritable Bowel Syndrome » or its abbreviation (IBS). Mexico and every other Latin American country were added to specify the search. The articles were selected if they were published in Mexico and/or the rest of Latin America, if they were international papers on IBS in the region, or if they were written by Mexican and/or Latin American authors. In addition, the articles were classified into the following categories: Reviews/Editorials/Letters to the Editor (REV/ED), Epidemiology/Quality of Life/Psychosocial Factors (EPI/QOL), Diagnostic (DX), Treatment (TX), and Translational/Pathophysiologic (TRANS) studies. A total of 66 articles from Mexico and 47 from Latin America were identified, but only 87.7 and 48.9%, respectively, fit the selection criteria. Category distribution was: EPI/QOL: 36.2%, REV/ED: 27.5%, TRANS: 18.8, TX: 10%, and DX: 7.5% and was similar between Mexico and Latin America (p=0.33). The year 2005 saw an increase in the number of articles in Mexico, with a peak in 2010. The figures for Latin American articles remained stable over the years, with a peak in 2012. A noticeable increase has been observed over the last decade in the research conducted on IBS in Mexico and Latin America. Even though the EPI/QOL studies predominate, the sophistication of research is reflected in the TRANS studies that are in third place of frequency. The information referred to herein demonstrates maturity in the field, making it possible to carry out consensuses based on local data. Copyright © 2015 Asociación Mexicana de

  8. Erectile Dysfunction

    Science.gov (United States)

    ... rigid. Medications The oral medications for erectile dysfunction, sildenafil (Viagra), tadalafil (Cialis), and vardenafil (Levitra), relax the muscles ... to begin working; the erection helping effects of sildenafil and vardenafil last for about 8 hours and ...

  9. Giant cell tumor of temporomandibular joint masquerading as temporomandibular joint pain dysfunction syndrome: a rare case report.

    Science.gov (United States)

    Sam, Jo Ee; Rachmat, Rullyandrianto Pan Nuriman; Melano, Cri Saiful Jordan; Wahab, Nasser Abdul

    2017-04-01

    Giant cell tumor (GCT) of the craniofacial bones has been reported but they are not common. This tumor occurs more often in women than in men and predominantly affects patients around the third to fifth decade of life. GCTs are generally benign but can be locally aggressive as well. We report a case of GCT involving the temporomandibular joint (TMJ), which was initially thought to be temporomandibular disorder (TMD). A 22-year-old female presented with swelling and pain over the right temporal region for 18 months associated with jaw locking and clicking sounds. On examination, her jaw deviated to the right during opening and there was a 2×2 cm swelling over the right temporal region. Despite routine treatment for TMD, the swelling increased in size. Computed tomography and magnetic resonance imaging of the brain and TMJ revealed an erosive tumor of the temporal bone involving the TMJ which was displacing the temporal lobe. Surgical excision was done and the tumor removed completely. Histopathological examination was consistent with a GCT. No clinical or radiological recurrence was detected 10 months post-surgery.

  10. Patients With Neurogenic Lower Urinary Tract Dysfunction Following Spinal Cord Injury Are at Increased Risk of Developing Type 2 Diabetes Mellitus: A Population-Based Cohort Study.

    Science.gov (United States)

    Lien, Wei-Chih; Kuan, Ta-Shen; Lin, Yu-Ching; Liang, Fu-Wen; Hsieh, Pei-Chun; Li, Chung-Yi

    2016-01-01

    To investigate whether patients with neurogenic lower urinary tract dysfunction (NLUTD) following spinal cord injury (SCI) are at increased risk of developing type 2 diabetes mellitus (T2DM).The retrospective cohort study used a subset of the Taiwan National Health Insurance Research Database (NHIRD) comprising information on 2 million beneficiaries randomly sampled from the general population. A total of 3515 patients with newly diagnosed SCI were identified during the period of 2001 to 2008. Among them, 170 developed NLUTD following SCI. The control group was consisted of 656 patients without NLUTD over the study period randomly selected by matching NLUTD cases on the date of NLUTD incidence, age, sex, and duration since diagnosis of SCI. The study groups were then followed to the end of 2009. T2DM was the end-point.The incidence rate ratios of T2DM were higher in the NLUTD group than in the control group (4.94 vs. 2.61 per 10,000 person-years), representing an adjusted hazard ratio (AHR) of 1.70 (95% confidence interval [CI] 1.11-2.61). Age-specific AHR was significantly elevated only in patients aged > = 60 years (AHR = 2.52 (95% CI 1.35-4.70)).This study showed that the NLUTD following SCI may significantly increase the risk of developing T2DM.

  11. Cardiac expression of human type 2 iodothyronine deiodinase increases glucose metabolism and protects against doxorubicin-induced cardiac dysfunction in male mice.

    Science.gov (United States)

    Hong, Eun-Gyoung; Kim, Brian W; Jung, Dae Young; Kim, Jong Hun; Yu, Tim; Seixas Da Silva, Wagner; Friedline, Randall H; Bianco, Suzy D; Seslar, Stephen P; Wakimoto, Hiroko; Berul, Charles I; Russell, Kerry S; Lee, Ki Won; Larsen, P Reed; Bianco, Antonio C; Kim, Jason K

    2013-10-01

    Altered glucose metabolism in the heart is an important characteristic of cardiovascular and metabolic disease. Because thyroid hormones have major effects on peripheral metabolism, we examined the metabolic effects of heart-selective increase in T3 using transgenic mice expressing human type 2 iodothyronine deiodinase (D2) under the control of the α-myosin heavy chain promoter (MHC-D2). Hyperinsulinemic-euglycemic clamps showed normal whole-body glucose disposal but increased hepatic insulin action in MHC-D2 mice as compared to wild-type (WT) littermates. Insulin-stimulated glucose uptake in heart was not altered, but basal myocardial glucose metabolism was increased by more than two-fold in MHC-D2 mice. Myocardial lipid levels were also elevated in MHC-D2 mice, suggesting an overall up-regulation of cardiac metabolism in these mice. The effects of doxorubicin (DOX) treatment on cardiac function and structure were examined using M-mode echocardiography. DOX treatment caused a significant reduction in ventricular fractional shortening and resulted in more than 50% death in WT mice. In contrast, MHC-D2 mice showed increased survival rate after DOX treatment, and this was associated with a six-fold increase in myocardial glucose metabolism and improved cardiac function. Myocardial activity and expression of AMPK, GLUT1, and Akt were also elevated in MHC-D2 and WT mice following DOX treatment. Thus, our findings indicate an important role of thyroid hormone in cardiac metabolism and further suggest a protective role of glucose utilization in DOX-mediated cardiac dysfunction.

  12. Increased prevalence of antibodies to thyroid peroxidase in dry eyes and mouth syndrome or sicca asthenia polyalgia syndrome.

    Science.gov (United States)

    Mavragani, Clio P; Skopouli, Fotini N; Moutsopoulos, Haralampos M

    2009-08-01

    A subset of patients presenting with sicca features suggestive of primary Sjögren's syndrome (pSS) do not fulfill diagnostic or histopathological criteria. This presentation was previously designated as dry eyes and mouth syndrome (DEMS) or sicca asthenia polyalgia syndrome (SAPS). We sought to define the underlying clinical, laboratory, and histological features of these patients. The study population consisted of 27 consecutive patients with DEMS/SAPS; 54 patients with pSS served as controls. Medical charts were retrospectively evaluated for clinical and serological data and frozen sera were tested for the presence of antibodies against HIV, hepatitis C virus, and thyroid antigens. Immunohistochemical analysis of paraffin embedded tissues was also performed. Sicca symptoms and nonspecific musculoskeletal pain were the commonest clinical features of patients with DEMS/SAPS; positive titers of antibodies against thyroid peroxidase was the main underlying abnormality found in 16 out of 27 (59.2%) of patients with DEMS/SAPS compared to 11 out of 54 (20.4%) of pSS controls (p = 0.0009). Histological analysis of the minor salivary gland (MSG) biopsies of patients with DEMS/SAPS disclosed a mild inflammatory infiltration of the interstitial tissue with a predominantly perivascular distribution. Patients with DEMS/SAPS present with sicca features and nonspecific musculoskeletal complaints, have high prevalence of antithyroid antibodies, and their MSG biopsies demonstrate a mild interstitial lymphocytic infiltration with a predominantly perivascular distribution. In the setting of clinical practice, we propose that in the presence of DEMS/SAPS testing for antithyroid antibody should be performed.

  13. Acute Kidney Injury in Heart Failure Revisited-The Ameliorating Impact of "Decongestive Diuresis" on Renal Dysfunction in Type 1 Acute Cardiorenal Syndrome: Accelerated Rising Pro B Naturetic Peptide Is a Predictor of Good Renal Prognosis.

    Science.gov (United States)

    Onuigbo, Macaulay Amechi Chukwukadibia; Agbasi, Nneoma; Sengodan, Mohan; Rosario, Karen Flores

    2017-08-29

    There is mounting evidence that forward heart failure as manifested by low cardiac output alone does not define the degree of renal dysfunction in cardiorenal syndrome. As a result, the term "congestive renal failure" was coined in 2012 by Ross to depict the role of renal venous hypertension in type 1 acute cardiorenal syndrome. If so, aggressive decongestive therapies, either through mechanical ultrafiltration with dialysis machines or pharmacologic ultrafiltration with potent diuretics, would lead to improved cardio and renal outcomes. Nevertheless, as recently as 2012, a review of this literature had concluded that a renal venous hypertension-directed approach using diuretics to manage cardio-renal syndrome was yet to be fully investigated. We, in this review, with three consecutive case series, describe our experience with pharmacologic decongestive diuresis in this paradigm of care and argue for studies of such therapeutic interventions in the management of cardiorenal syndrome. Finally, based on our observations in the Renal Unit, Mayo Clinic Health System, in Northwestern Wisconsin, we have hypothesized that patients with cardiorenal syndrome presenting with accelerated rising Pro B Naturetic Peptide levels appear to represent a group that would have good cardio- and renal-outcomes with such decongestive pharmacologic therapies.

  14. Empagliflozin Increases Short-Term Urinary Volume Output in Artificially Induced Syndrome of Inappropriate Antidiuresis

    Directory of Open Access Journals (Sweden)

    Julie Refardt

    2017-01-01

    Full Text Available Objective. Syndrome of inappropriate antidiuresis (SIADH is the predominant cause of hyponatremia, but treatment options are unsatisfying. SGLT2 inhibitors increase urinary glucose excretion with concomitant osmotic diuresis. We therefore hypothesized SGLT2-inhibitors as a novel treatment for SIADH. Design. Double-blind placebo-controlled randomised crossover study in 14 healthy volunteers. Methods. We induced an artificial SIADH model by administration of desmopressin and overhydration. Afterwards, empagliflozin 25 mg or placebo was given in random order. The main outcomes were total urinary excretion, glucosuria, and the area under the curve (AUC of serum sodium concentration. Outcome measures were obtained 2–8 hours after administration of study drug. Results. 14 participants (64% males, BMI 23 kg/m2 (±2.4, aged 28.6 years (±9, completed the study. Empagliflozin led to significantly increased total urinary excretion (579.3 ml (±194.8 versus 367.3 ml (±158.8; treatment effect 158 ml (CI 48.29, 267.74, p=0.017 due to glucosuria (74.18 mmol (±22.3 versus 0.12 mmol (±0.04; treatment effect (log scale 2.85 (CI 2.75, 2.96, p<0.001. There was no difference in the AUC of serum sodium concentration (treatment effect 0.2 (CI −7.38, 6.98, p=0.96. Conclusion. In our SIADH model, empagliflozin increased urinary excretion due to osmotic diuresis. Due to the short treatment duration, serum sodium levels remained unchanged. Real-live studies are needed to further examine empagliflozin as a new treatment for SIADH.

  15. Adolescent Metabolic Syndrome Risk Is Increased with Higher Infancy Weight Gain and Decreased with Longer Breast Feeding

    Directory of Open Access Journals (Sweden)

    Kim Khuc

    2012-01-01

    Full Text Available Background. Prevalence of the metabolic syndrome is increasing in pediatric age groups worldwide. Meeting the criteria for the metabolic syndrome puts children at risk for later cardiovascular and metabolic disease. Methods. Using linear regression, we examined the association between infant weight gain from birth to 3 months and risk for the metabolic syndrome among 16- to 17-year-old Chilean adolescents (n=357, accounting for the extent of breastfeeding in infancy and known covariates including gender, birth weight, and socioeconomic status. Results. Participants were approximately half male (51%, born at 40 weeks of gestation weighing 3.5 kg, and 48% were exclusively breastfed for ≥90 days. Factors independently associated with increased risk of metabolic syndrome in adolescence were faster weight gain in the first 3 months of life (B=0.16, P<0.05 and male gender (B=0.24, P<0.05. Breastfeeding as the sole source of milk for ≥90 days was associated with significantly decreased risk of metabolic syndrome (B=−0.16. Conclusion. This study adds to current knowledge about early infant growth and breastfeeding and their long-term health effects.

  16. The Metabolic Syndrome and Inflammation: Role of Insulin Resistance and Increased Adiposity

    Directory of Open Access Journals (Sweden)

    Wajiha Farooq

    2015-03-01

    Full Text Available Objectives: We sought to determine the role of obesity and insulin resistance (IR in the pathogenesis of inflammation in metabolic syndrome (MetS. Methods: Our study included 100 patients with MetS and 100 age and gender matched control patients who attended a tertiary care laboratory in Rawalpindi, Pakistan. Anthropometric data was obtained including height and weight to calculate body mass index. A record of patient’s blood pressure (BP, waist circumference (WC and hip circumference (HC was made. Biochemical analysis included measurements of fasting glucose, triglycerides (TG, high-density lipoprotein cholesterol (HDL-c, insulin, and high-sensitivity C reactive protein (hsCRP. IR was determined by the homeostasis mode assessment insulin resistance (HOMA-IR method. Results: The levels of hs-CRP were found to be elevated in all patients with MetS where it correlated significantly with all its components including measures of obesity, fasting insulin and glucose levels, IR, TG and HDL-c. However, on linear regression analysis only WC, fasting insulin, and HOMA-IR remained significantly correlated with hs-CRP. Conclusion: MetS is a condition characterized by chronic low-grade inflammation, which arises because of increased abdominal adiposity and IR. Large multicenter studies are needed to gain insight into its pathogenesis and derive treatment strategies.

  17. Subacromial Anesthetics Increase Proprioceptive Deficit in the Shoulder and Elbow in Patients With Subacromial Impingement Syndrome

    Directory of Open Access Journals (Sweden)

    Lucas R Ettinger

    2017-06-01

    Full Text Available Shoulder proprioception gives information regarding arm joint position and movement direction. Several studies have investigated shoulder proprioceptive acuity in patients with subacromial impingement syndrome (SIS; however, differences in protocols and between-subjects designs have limited scientific inferences regarding proprioception and SIS. We aimed to determine within-subject differences in shoulder and elbow proprioceptive acuity in 17 patients with stage 2 SIS following treatment of a local anesthetic injection. In addition, we used 17 healthy, age-, sex-, and arm dominance–matched controls to determine the magnitude of differences after treatment. Joint position sense (JPS was measured before and after treatment in both groups in the sagittal plane for the shoulder and elbow. Our results indicate that patients with SIS have less sensitivity to angular position and tended to overshoot their targets with greater variability during angle-matching tasks for the shoulder (1.8° difference, P  = .042 and elbow (5.6° difference, P  = .001 than controls. The disparities in JPS found in patients with SIS were not resolved following subacromial injection; in fact, the magnitude of the errors increased after treatment where postinjection errors were significantly greater ( P  = .046 than controls, with an average difference of 2.4°. These findings suggest that patients with SIS have decrements in either the signaling or processing of proprioceptive information and may use pain to reduce these inequalities.

  18. Increased HCN channel driven inward rectification in benign cramp fasciculation syndrome.

    Science.gov (United States)

    Czesnik, Dirk; Howells, James; Negro, Francesco; Wagenknecht, Melanie; Hanner, Susanne; Farina, Dario; Burke, David; Paulus, Walter

    2015-11-01

    Muscle cramps are a common complaint associated with sudden painful involuntary contractions of a muscle. The mechanisms responsible for muscle cramps are still not clear. Axonal excitability and multi-unit electromyography studies were performed in 20 patients suffering from benign cramp fasciculation syndrome, not currently on medication. The measures of axonal excitability suggested greater inward rectification, indicative of an increase in Ih. Mathematical modelling suggested that the data were best explained by depolarization of the voltage dependence of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels. Parameters associated with polarization of resting membrane potential were not changed. These findings suggest that a role for HCN channels may become apparent during the rhythmic discharge associated with a voluntary contraction. Consistent with this view, patients had higher motor unit discharge rates than healthy controls during maximal voluntary effort. © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  19. White-nose syndrome increases torpid metabolic rate and evaporative water loss in hibernating bats.

    Science.gov (United States)

    McGuire, Liam P; Mayberry, Heather W; Willis, Craig K R

    2017-12-01

    Fungal diseases of wildlife typically manifest as superficial skin infections but can have devastating consequences for host physiology and survival. White-nose syndrome (WNS) is a fungal skin disease that has killed millions of hibernating bats in North America since 2007. Infection with the fungus Pseudogymnoascus destructans causes bats to rewarm too often during hibernation, but the cause of increased arousal rates remains unknown. On the basis of data from studies of captive and free-living bats, two mechanistic models have been proposed to explain disease processes in WNS. Key predictions of both models are that WNS-affected bats will show 1 ) higher metabolic rates during torpor (TMR) and 2 ) higher rates of evaporative water loss (EWL). We collected bats from a WNS-negative hibernaculum, inoculated one group with P. destructans , and sham-inoculated a second group as controls. After 4 mo of hibernation, TMR and EWL were measured using respirometry. Both predictions were supported, and our data suggest that infected bats were more affected by variation in ambient humidity than controls. Furthermore, disease severity, as indicated by the area of the wing with UV fluorescence, was positively correlated with EWL, but not TMR. Our results provide the first direct evidence that heightened energy expenditure during torpor and higher EWL independently contribute to WNS pathophysiology, with implications for the design of potential treatments for the disease. Copyright © 2017 the American Physiological Society.

  20. Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.

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    Dixon, J; Brakebusch, C; Fässler, R; Dixon, M J

    2000-06-12

    Treacher Collins syndrome (TCS) is an autosomal dominant disorder of human craniofacial development that results from loss-of-function mutations in the gene TCOF1. Although this gene has been demonstrated to encode the nucleolar phosphoprotein treacle, the developmental mechanism underlying TCS remains elusive, particularly as expression studies have shown that the murine orthologue, Tcof1, is widely expressed. To investigate the molecular pathogenesis of TCS, we replaced exon 1 of Tcof1 with a neomycin-resistance cassette via homologous recombination in embryonic stem cells. Tcof1 heterozygous mice die perinatally as a result of severe craniofacial anomalies that include agenesis of the nasal passages, abnormal development of the maxilla, exencephaly and anophthalmia. These defects arise due to a massive increase in the levels of apoptosis in the prefusion neural folds, which are the site of the highest levels of Tcof1 expression. Our results demonstrate that TCS arises from haploinsufficiency of a protein that plays a crucial role in craniofacial development and indicate that correct dosage of treacle is essential for survival of cephalic neural crest cells.

  1. Salivary testosterone and immunoglobulin A were increased by resistance training in adults with Down syndrome

    Directory of Open Access Journals (Sweden)

    G. Fornieles

    2014-04-01

    Full Text Available This study was designed to assess the influence of resistance training on salivary immunoglobulin A (IgA levels and hormone profile in sedentary adults with Down syndrome (DS. A total of 40 male adults with DS were recruited for the trial through different community support groups for people with intellectual disabilities. All participants had medical approval for participation in physical activity. Twenty-four adults were randomly assigned to perform resistance training in a circuit with six stations, 3 days per week for 12 weeks. Training intensity was based on functioning in the eight-repetition maximum (8RM test for each exercise. The control group included 16 age-, gender-, and BMI-matched adults with DS. Salivary IgA, testosterone, and cortisol levels were measured by ELISA. Work task performance was assessed using the repetitive weighted-box-stacking test. Resistance training significantly increased salivary IgA concentration (P=0.0120; d=0.94 and testosterone levels (P=0.0088; d=1.57 in the exercising group. Furthermore, it also improved work task performance. No changes were seen in the controls who had not exercised. In conclusion, a short-term resistance training protocol improved mucosal immunity response as well as salivary testosterone levels in sedentary adults with DS.

  2. The effect of increased intracranial pressure on vestibular evoked myogenic potentials in superior canal dehiscence syndrome.

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    Janky, Kristen L; Zuniga, M Geraldine; Schubert, Michael C; Carey, John P

    2015-04-01

    To determine if vestibular evoked myogenic potential (VEMP) responses change during inversion in patients with superior canal dehiscence syndrome (SCDS) compared to controls. Sixteen subjects with SCDS (mean: 43, range 30-57 years) and 15 age-matched, healthy subjects (mean: 41, range 22-57 years) completed cervical VEMP (cVEMP) in response to air conduction click stimuli and ocular VEMP (oVEMP) in response to air conduction 500 Hz tone burst stimuli and midline tap stimulation. All VEMP testing was completed in semi-recumbent and inverted conditions. SCDS ears demonstrated significantly larger oVEMP peak-to-peak amplitudes in comparison to normal ears in semi-recumbency. While corrected cVEMP peak-to-peak amplitudes were larger in SCDS ears; this did not reach significance in our sample. Overall, there was not a differential change in o- or cVEMP amplitude with inversion between SCDS and normal subjects. Postural-induced changes in o- and cVEMP responses were measured in the steady state regardless of whether the labyrinth was intact or dehiscent. VEMP responses are blunted during inversion. Although steady-state measurements of VEMPs during inversion do not increase diagnostic accuracy for SCDS, the findings suggest that inversion may provide more general insights into the equilibration of pressures between intracranial and intralabyrinthine fluids. Copyright © 2014 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

  3. Metabolic Syndrome Is Associated with Increased Breast Cancer Risk: A Systematic Review with Meta-Analysis

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    Ruchi Bhandari

    2014-01-01

    Full Text Available Background. Although individual metabolic risk factors are reported to be associated with breast cancer risk, controversy surrounds risk of breast cancer from metabolic syndrome (MS. We report the first systematic review and meta-analysis of the association between MS and breast cancer risk in all adult females. Methods. Studies were retrieved by searching four electronic reference databases [PubMed, Cumulative Index to Nursing and Allied Health Literature (CINAHL, Web of Science, and ProQuest through June 30, 2012] and cross-referencing retrieved articles. Eligible for inclusion were longitudinal studies reporting associations between MS and breast cancer risk among females aged 18 years and older. Relative risks and 95% confidence intervals were calculated for each study and pooled using random-effects models. Publication bias was assessed quantitatively (Trim and Fill and qualitatively (funnel plots. Heterogeneity was examined using Q and I2 statistics. Results. Representing nine independent cohorts and 97,277 adult females, eight studies met the inclusion criteria. A modest, positive association was observed between MS and breast cancer risk (RR: 1.47, 95% CI, 1.15–1.87; z=3.13; p=0.002; Q=26.28, p=0.001; I2=69.55%. No publication bias was observed. Conclusions. MS is associated with increased breast cancer risk in adult women.

  4. Subacromial Anesthetics Increase Proprioceptive Deficit in the Shoulder and Elbow in Patients With Subacromial Impingement Syndrome.

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    Ettinger, Lucas R; Shapiro, Matthew; Karduna, Andrew

    2017-01-01

    Shoulder proprioception gives information regarding arm joint position and movement direction. Several studies have investigated shoulder proprioceptive acuity in patients with subacromial impingement syndrome (SIS); however, differences in protocols and between-subjects designs have limited scientific inferences regarding proprioception and SIS. We aimed to determine within-subject differences in shoulder and elbow proprioceptive acuity in 17 patients with stage 2 SIS following treatment of a local anesthetic injection. In addition, we used 17 healthy, age-, sex-, and arm dominance-matched controls to determine the magnitude of differences after treatment. Joint position sense (JPS) was measured before and after treatment in both groups in the sagittal plane for the shoulder and elbow. Our results indicate that patients with SIS have less sensitivity to angular position and tended to overshoot their targets with greater variability during angle-matching tasks for the shoulder (1.8° difference, P = .042) and elbow (5.6° difference, P = .001) than controls. The disparities in JPS found in patients with SIS were not resolved following subacromial injection; in fact, the magnitude of the errors increased after treatment where postinjection errors were significantly greater ( P = .046) than controls, with an average difference of 2.4°. These findings suggest that patients with SIS have decrements in either the signaling or processing of proprioceptive information and may use pain to reduce these inequalities.

  5. Increased pain sensitivity is not associated with electrodiagnostic findings in women with carpal tunnel syndrome.

    Science.gov (United States)

    de la Llave-Rincón, Ana Isabel; Fernández-de-las-Peñas, César; Laguarta-Val, Sofia; Alonso-Blanco, Cristina; Martínez-Perez, Almudena; Arendt-Nielsen, Lars; Pareja, Juan A

    2011-01-01

    To determine the differences in widespread pressure pain and thermal hypersensitivity in women with minimal, moderate, and severe carpal tunnel syndrome (CTS) and healthy controls. A total of 72 women with CTS (19 with minimal, 18 with moderate, and 35 with severe) and 19 healthy