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Sample records for central hypoventilation syndrome

  1. Peripheral chemoreceptors in congenital central hypoventilation syndrome.

    Science.gov (United States)

    Perez, Iris A; Keens, Thomas G

    2013-01-01

    Congenital central hypoventilation syndrome is a rare disorder caused by a mutation in the PHOX2B gene resulting in hypoventilation that is worse during sleep. Human physiologic studies show that patients with CCHS have absent or decreased rebreathing ventilatory responses to hypercapnia and hypoxemia during sleep as well as during wakefulness. Some ventilatory responses to hypoxia and hyperoxia can be demonstrated using a step change in inspired oxygen. However, these suggest that both central and peripheral chemoreceptor functions are generally defective in all states in children with CCHS. The defect in CCHS may lie in central nervous system pathways regulating ventilation, whose development and function are controlled by PHOX2B. Moreover, the retrotrapezoid nucleus (RTN) may be the major defect in CCHS, where central and peripheral inputs converge. Human physiological studies predicted that the defect in CCHS lies in central integration of the central and peripheral chemoreceptor signals. New evidence suggests the RTN may be the respiratory controller where chemoreceptor inputs are integrated. In this review we present the clinical presentation of CCHS, revisit results of human physiologic studies, and discuss the findings in light of new knowledge about the role of PHOX2B and RTN in CCHS.

  2. Diaphragm pacers as a treatment for congenital central hypoventilation syndrome.

    Science.gov (United States)

    Chen, Maida Lynn; Tablizo, Mary Anne; Kun, Sheila; Keens, Thomas G

    2005-09-01

    Congenital central hypoventilation syndrome is a rare syndrome present from birth, and is defined as the failure of automatic control of breathing. All patients with congenital central hypoventilation syndrome require life-long ventilatory support during sleep, although approximately a third of patients require ventilatory support 24 h per day. Diaphragm pacers offer a modality of ventilatory support that affords congenital central hypoventilation syndrome patients with maximal mobility for full-time ventilatory patients, and they may allow for a more normal lifestyle in the appropriate patient. They may permit tracheostomy decannulation in those requiring only support during sleep. Diaphragm pacing entails surgical placement of an electrode onto the phrenic nerve, connected to a subcutaneous receiver. There is an external battery-operated transmitter and antenna placed on the skin over the receiver. The transmitter emits energy, similar to radio transmission, which is converted into an electrical current by the receiver. This stimulates the phrenic nerve resulting in a diaphragmatic contraction. Settings on the transmitter include respiratory rate and electrical voltage, and are adjusted to give enough tidal volume to allow for adequate oxygenation and ventilation. Therefore, diaphragm pacing is an attractive alternative mode of mechanically assisted ventilation for many patients with congenital central hypoventilation syndrome.

  3. Congenital central hypoventilation syndrome: diagnostic and management challenges

    OpenAIRE

    Kasi, Ajay; Perez,Iris; Kun,Sheila; Keens, Thomas

    2016-01-01

    Ajay S Kasi,1 Iris A Perez,1,2 Sheila S Kun,1 Thomas G Keens1,2 1Division of Pediatric Pulmonology and Sleep Medicine, Children’s Hospital Los Angeles, 2Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA Abstract: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder with failure of central control of breathing and of the autonomic nervous system function due to a mutation in the paired-like homeobox 2B (PHOX2B) gene. Affec...

  4. Respiratory and autonomic dysfunction in congenital central hypoventilation syndrome.

    Science.gov (United States)

    Moreira, Thiago S; Takakura, Ana C; Czeisler, Catherine; Otero, Jose J

    2016-08-01

    The developmental lineage of the PHOX2B-expressing neurons in the retrotrapezoid nucleus (RTN) has been extensively studied. These cells are thought to function as central respiratory chemoreceptors, i.e., the mechanism by which brain Pco2 regulates breathing. The molecular and cellular basis of central respiratory chemoreception is based on the detection of CO2 via intrinsic proton receptors (TASK-2, GPR4) as well as synaptic input from peripheral chemoreceptors and other brain regions. Murine models of congenital central hypoventilation syndrome designed with PHOX2B mutations have suggested RTN neuron agenesis. In this review, we examine, through human and experimental animal models, how a restricted number of neurons that express the transcription factor PHOX2B play a crucial role in the control of breathing and autonomic regulation. PMID:27226447

  5. Congenital central hypoventilation syndrome: diagnostic and management challenges

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    Kasi AS

    2016-08-01

    Full Text Available Ajay S Kasi,1 Iris A Perez,1,2 Sheila S Kun,1 Thomas G Keens1,2 1Division of Pediatric Pulmonology and Sleep Medicine, Children’s Hospital Los Angeles, 2Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA Abstract: Congenital central hypoventilation syndrome (CCHS is a rare genetic disorder with failure of central control of breathing and of the autonomic nervous system function due to a mutation in the paired-like homeobox 2B (PHOX2B gene. Affected patients have absent or negligible ventilatory sensitivity to hypercapnia and hypoxemia, and they do not exhibit signs of respiratory distress when challenged with hypercarbia or hypoxia. The diagnosis of CCHS must be confirmed with PHOX2B gene mutation. Generally, the PHOX2B mutation genotype can aid in anticipating the severity of the phenotype. They require ventilatory support for life. Home assisted ventilation options include positive pressure ventilation via tracheostomy, noninvasive positive pressure ventilation, and diaphragm pacing via phrenic nerve stimulation, but each strategy has its associated limitations and challenges. Since all the clinical manifestations of CCHS may not manifest at birth, periodic monitoring and early intervention are necessary to prevent complications and improve outcome. Life-threatening arrhythmias can manifest at different ages and a normal cardiac monitoring study does not exclude future occurrences leading to the dilemma of timing and frequency of cardiac rhythm monitoring and treatment. Given the rare incidence of CCHS, most health care professionals are not experienced with managing CCHS patients, particularly those with diaphragm pacers. With early diagnosis and advances in home mechanical ventilation and monitoring strategies, many CCHS children are surviving into adulthood presenting new challenges in their care. Keywords: congenital central hypoventilation syndrome, PHOX2B, home mechanical ventilation, diaphragm

  6. Hippocampal volume reduction in congenital central hypoventilation syndrome.

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    Paul M Macey

    Full Text Available Children with congenital central hypoventilation syndrome (CCHS, a genetic disorder characterized by diminished drive to breathe during sleep and impaired CO(2 sensitivity, show brain structural and functional changes on magnetic resonance imaging (MRI scans, with impaired responses in specific hippocampal regions, suggesting localized injury.We assessed total volume and regional variation in hippocampal surface morphology to identify areas affected in the syndrome. We studied 18 CCHS (mean age+/-std: 15.1+/-2.2 years; 8 female and 32 healthy control (age 15.2+/-2.4 years; 14 female children, and traced hippocampi on 1 mm(3 resolution T1-weighted scans, collected with a 3.0 Tesla MRI scanner. Regional hippocampal volume variations, adjusted for cranial volume, were compared between groups based on t-tests of surface distances to the structure midline, with correction for multiple comparisons. Significant tissue losses emerged in CCHS patients on the left side, with a trend for loss on the right; however, most areas affected on the left also showed equivalent right-sided volume reductions. Reduced regional volumes appeared in the left rostral hippocampus, bilateral areas in mid and mid-to-caudal regions, and a dorsal-caudal region, adjacent to the fimbria.The volume losses may result from hypoxic exposure following hypoventilation during sleep-disordered breathing, or from developmental or vascular consequences of genetic mutations in the syndrome. The sites of change overlap regions of abnormal functional responses to respiratory and autonomic challenges. Affected hippocampal areas have roles associated with memory, mood, and indirectly, autonomic regulation; impairments in these behavioral and physiological functions appear in CCHS.

  7. Obesity hypoventilation syndrome (OHS)

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

  8. Obesity Hypoventilation Syndrome

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih- ... NHLBI Research Featured in HBO Documentary Series on Obesity Hear people talk about their challenges and successes ...

  9. Ethical considerations with the management of congenital central hypoventilation syndrome.

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    Massie, John; Gillam, Lynn

    2015-05-01

    Congenital central hypoventilation syndrome (CCHS) is a well-recognized disorder of the autonomic nervous system caused by mutations in the PHOX2B gene. The most characteristic feature is failure of ventilatory control, resulting in the need for respiratory support while asleep, and in some cases when awake also. Most cases present in infancy or early childhood. Technological advances allow patients with mild to moderate phenotypesto receive adequate support by non-invasive ventilation (NIV), or diaphragm pacing (or combination of the two) avoiding the need for long-term ventilation by tracheostomy. Daytime functioning of patients with CCHS who require sleep-time ventilation only is expected to be good, with some additional surveillance to ensure they don't accidentally fall asleep without respiratory support available. Some children with CCHS have other complications, such as Hirschprung's disease, learning difficulties, and cardiac arrhythmias (leading in some instances to heart block and the requirement for a pacemaker). In a few cases, patients can develop neurogenic malignancies. Parents bear a significant burden for the care of their child with CCHS including provision of NIV at home, close monitoring, and regular surveillance for complications. Information about patients with CCHS comes from databases in the United States and Europe, but these don't include infants or children for whom ventilator support was not offered. In this paper we use a case study to explore the ethical issues of provision of treatment, or non-treatment, of children with CCHS.

  10. PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome

    Institute of Scientific and Technical Information of China (English)

    Siu-Fong June Or; Ming-for Tony Tong; Fai-Man Ivan Lo; Chi-Wai Law; Ting-Yat Miu; Delphine Trochet; Tak-Sum Stephen Lam

    2006-01-01

    @@ Congenital central hypoventilation syndrome(CCHS, OMIM #209880) is a rare autosomal dominant disorder of the autonomic nervous system(ANS) characterized by an abnormal autonomic ventilatory response to progressive hypercarbia and sustained hypoxemia. Patients typically present in the newborn period with hypoventilation or apnea asleep, awake, or both, without any associated cardiac, pulmonary, neuromuscular or brainstem lesions. Rarely, some patients may present at a later age and are diagnosed to have late onset central hypoventilation syndrome (LOCHS).1 Other features of ANS dysfunction such as feeding difficulty due to oesophageal dysmotility, severe constipation in the absence of Hirschsprung disease, poor regulation of basal body temperature, episodes of profuse sweating, pupillary and ocular abnormalities,decreased beat-to-beat variability of heart rate,attenuated response of heart rate to exercise,abnormal fluctuation of blood pressure, decreased perception to pain, and decreased perception to anxiety may be variably present but not essential for diagnosis.

  11. Obesity hypoventilation syndrome (OHS)

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    Obesity hypoventilation syndrome (OHS) is a condition in some obese people in which poor breathing leads to ... Maintain a healthy weight and avoid obesity. Use your CPAP or BiPAP treatment as your provider prescribed.

  12. Obesity hypoventilation syndrome

    Directory of Open Access Journals (Sweden)

    Al Dabal Laila

    2009-01-01

    Full Text Available Obesity is becoming a major medical concern in several parts of the world, with huge economic impacts on health- care systems, resulting mainly from increased cardiovascular risks. At the same time, obesity leads to a number of sleep-disordered breathing patterns like obstructive sleep apnea and obesity hypoventilation syndrome (OHS, leading to increased morbidity and mortality with reduced quality of life. OHS is distinct from other sleep- related breathing disorders although overlap may exist. OHS patients may have obstructive sleep apnea/hypopnea with hypercapnia and sleep hypoventilation, or an isolated sleep hypoventilation. Despite its major impact on health, this disorder is under-recognized and under-diagnosed. Available management options include aggressive weight reduction, oxygen therapy and using positive airway pressure techniques. In this review, we will go over the epidemiology, pathophysiology, presentation and diagnosis and management of OHS.

  13. Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.

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    Shimokaze, Tomoyuki; Sasaki, Ayako; Meguro, Toru; Hasegawa, Hisaya; Hiraku, Yuka; Yoshikawa, Tetsushi; Kishikawa, Yumiko; Hayasaka, Kiyoshi

    2015-09-01

    Examine the genotype-phenotype relationship in Japanese congenital central hypoventilation syndrome (CCHS) patients and estimate the incidence of CCHS in Japan. Subjects were 92 Japanese patients with PHOX2B mutations; 19 cases carried 25 polyalanine repeat expansion mutations (PARMs); 67 cases carried 26 or more PARMs; and 6 had non-PARMs (NPARMs). We collected clinical data in all patients and estimated the development or intelligent quotients only in the patients carrying 25 PARM. The estimated incidence of CCHS was greater than one case per 148 000 births. Polyhydramnios was observed in three cases. Twelve infants exhibited depressed respiration at birth. In 19 cases carrying 25 PARM, the male-to-female ratio was ~3, no cases had Hirschsprung disease; 7 cases (37%) developed hypoventilation after the neonatal period, and 8 cases (42%) had mental retardation. In other 73 cases carrying 26 or more PARMs or NPARMs, male-to-female ratio was equal; patients frequently complicated with Hirschsprung disease and constipation, and all patients presented with hypoventilation in the neonatal period. Clinical symptoms were severe in most patients carrying long PARMs and NPARMs. In 25 PARM, additional genetic and/or epigenetic factors were required for CCHS development and male sex is likely a predisposing factor. The patients carrying 25 PARM frequently had mental retardation likely because they were not able to receive appropriate ventilation support following a definitive diagnosis owing to subtle and or irregular hypoventilation. Molecular diagnosis provides a definitive diagnosis and enables to receive appropriate ventilator support. PMID:26063465

  14. An assistive device for congenital central hypoventilation syndrome outpatients during sleep.

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    Biffi, Emilia; Piazza, Caterina; Cavalleri, Matteo; Taddeo, Peter; Carcano, Alessandro; Morandi, Francesco; Reni, Gianluigi

    2014-10-01

    Congenital Central Hypoventilation Syndrome is a genetic disease characterized by alveolar hypoventilation and autonomic dysregulation. Patients have hypoventilations, especially during sleep, conditioning hypercapnia which can lead to neurological damage and death. They therefore need mechanical ventilators, that provide sufficient gas exchange, and pulse-oximeters that monitor oxy-hemoglobin blood concentration. Due to the restrictions regarding domiciliary assistive devices, the presence of a caregiver is required all night long. Currently, the only alarm systems available are the ones integrated in the ventilators and monitoring systems. During the night, multiple false alarms may occur, interrupting the sleep and causing anxiety. In this work we describe an assistive device that acquires real-time data from a pulse-oximeter, provides a multisensory stimulation if oxygen saturation falls under a certain threshold, and wakes up the patient if the hypoxia is severe. Tests on healthy subjects have shown that the device guarantees rapid awakenings, with a stimulator-dependent efficacy, and that it does not affect sleep efficiency. The purpose of the device is to determine a gentle awakening if mild hypoxia conditions persist, and to assure rapid awakening when a severe hypoxia occurs, reducing false alarms, improving the quality of sleep and increasing the self-sufficiency of the patients. PMID:25069973

  15. Impaired Neural Structure and Function Contributing to Autonomic Symptoms in Congenital Central Hypoventilation Syndrome

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    Ronald M Harper

    2015-10-01

    Full Text Available Congenital central hypoventilation syndrome (CCHS patients show major autonomic alterations in addition to their better-known breathing deficiencies. The processes underlying CCHS, mutations in the PHOX2B gene, target autonomic neuronal development, with frame shift extent contributing to symptom severity. Many autonomic characteristics, such as impaired pupillary constriction and poor temperature regulation, reflect parasympathetic alterations, and can include disturbed alimentary processes, with malabsorption and intestinal motility dyscontrol. The sympathetic nervous system changes can exert life-threatening outcomes, with dysregulation of sympathetic outflow leading to high blood pressure, time-altered and dampened heart rate and breathing responses to challenges, cardiac arrhythmia, profuse sweating, and poor fluid regulation. The central mechanisms contributing to failed autonomic processes are readily apparent from structural and functional magnetic resonance imaging studies, which reveal substantial cortical thinning, tissue injury, and disrupted functional responses in hypothalamic, hippocampal, posterior thalamic, and basal ganglia sites and their descending projections, as well as insular, cingulate, and medial frontal cortices, which influence subcortical autonomic structures. Midbrain structures are also compromised, including the raphe system and its projections to cerebellar and medullary sites, the locus coeruleus, and medullary reflex integrating sites, including the dorsal and ventrolateral medullary nuclei. The damage to rostral autonomic sites overlaps metabolic, affective and cognitive regulatory regions, leading to hormonal disruption, anxiety, depression, behavioral control, and sudden death concerns. The injuries suggest that interventions for mitigating hypoxic exposure and nutrient loss may provide cellular protection, in the same fashion as interventions in other conditions with similar malabsorption, fluid turnover

  16. The cerebral cost of breathing: an FMRI case-study in congenital central hypoventilation syndrome.

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    Sharman, Mike; Gallea, Cécile; Lehongre, Katia; Galanaud, Damien; Nicolas, Nathalie; Similowski, Thomas; Cohen, Laurent; Straus, Christian; Naccache, Lionel

    2014-01-01

    Certain motor activities--like walking or breathing--present the interesting property of proceeding either automatically or under voluntary control. In the case of breathing, brainstem structures located in the medulla are in charge of the automatic mode, whereas cortico-subcortical brain networks--including various frontal lobe areas--subtend the voluntary mode. We speculated that the involvement of cortical activity during voluntary breathing could impact both on the "resting state" pattern of cortical-subcortical connectivity, and on the recruitment of executive functions mediated by the frontal lobe. In order to test this prediction we explored a patient suffering from central congenital hypoventilation syndrome (CCHS), a very rare developmental condition secondary to brainstem dysfunction. Typically, CCHS patients demonstrate efficient cortically-controlled breathing while awake, but require mechanically-assisted ventilation during sleep to overcome the inability of brainstem structures to mediate automatic breathing. We used simultaneous EEG-fMRI recordings to compare patterns of brain activity between these two types of ventilation during wakefulness. As compared with spontaneous breathing (SB), mechanical ventilation (MV) restored the default mode network (DMN) associated with self-consciousness, mind-wandering, creativity and introspection in healthy subjects. SB on the other hand resulted in a specific increase of functional connectivity between brainstem and frontal lobe. Behaviorally, the patient was more efficient in cognitive tasks requiring executive control during MV than during SB, in agreement with her subjective reports in everyday life. Taken together our results provide insight into the cognitive and neural costs of spontaneous breathing in one CCHS patient, and suggest that MV during waking periods may free up frontal lobe resources, and make them available for cognitive recruitment. More generally, this study reveals how the active

  17. Positive Pressure for Obesity Hypoventilation Syndrome

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    Arijit Chanda

    2012-01-01

    Full Text Available Obesity is increasing world-wide; obesity hypoventilation syndrome (OHS, formerly Pickwickian syndrome, has increased in parallel. Despite its prevalence, OHS has not been studied well, but there is abundant evidence that it is tightly linked with sleep-disordered breathing, most commonly obstructive sleep apnea. This article reviews the pathophysiology of OHS as well as the literature regarding the benefits of treating this disorder with positive airway pressure. We also emphasize that while positive pressure treatments may temporize cardiopulmonary disease progression, simultaneous pursuit of weight reduction is central to long-term management of this condition.

  18. Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome.

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    Armstrong, Amy E; Weese-Mayer, Debra E; Mian, Amir; Maris, John M; Batra, Vandana; Gosiengfiao, Yasmin; Reichek, Jennifer; Madonna, Mary Beth; Bush, Jonathan W; Shore, Richard M; Walterhouse, David O

    2015-11-01

    Neuroblastoma in patients with congenital central hypoventilation syndrome (CCHS) as part of a neurocristopathy syndrome is a rare finding and has only been associated with paired-like homeobox 2b (PHOX2B) non-polyalanine-repeat-expansion mutations. To the best of our knowledge, we report the first case of a child with CCHS and Hirschsprung disease who had a PHOX2B polyalanine-repeat-expansion mutation (PARM) (genotype 20/33) and developed high-risk neuroblastoma. We further describe his treatment including chemotherapy and therapeutic I(131) -metaiodobenzylguanidine. This case highlights the need to consider neuroblastoma in patients with CCHS and the longest PHOX2B PARMs and to individualize treatment based on co-morbidities.

  19. Congenital Central Hypoventilation Syndrome

    Science.gov (United States)

    ... 12/2016 Symptoms Symptoms Listen The Human Phenotype Ontology (HPO) provides the following list of features that ... The in-depth resources contain medical and scientific language that may be hard to understand. You may ...

  20. Gender differences in patients with obesity hypoventilation syndrome.

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

    2016-08-01

    The role of gender and menopause in obstructive sleep apnoea is well known; however, no study has reported the impact of gender on the clinical presentation and the nocturnal respiratory events in patients with obesity hypoventilation syndrome. Therefore, this study prospectively evaluated differences in the clinical characteristics of women and men with obesity hypoventilation syndrome in a large cohort of patients with obstructive sleep apnoea. During the study period, a total of 1973 patients were referred to the sleep clinic with clinical suspicion of obstructive sleep apnoea. All patients underwent overnight polysomnography, during which time spirometry, arterial blood samples and thyroid tests were routinely obtained. Among 1973 consecutive patients, 1693 (617 women) were diagnosed with obstructive sleep apnoea, among whom 144 suffered from obesity hypoventilation syndrome (96 women). The prevalence of obesity hypoventilation syndrome among women and men was 15.6% and 4.5%, respectively (P duration of SpO2 sleep disorders clinic for evaluation of obstructive sleep apnoea, obesity hypoventilation syndrome is more prevalent in women than men, and that women with obesity hypoventilation syndrome suffer from significantly more co-morbidities. Post-menopausal women with obstructive sleep apnoea have the highest prevalence of obesity hypoventilation syndrome. PMID:26990045

  1. Association of misoprostol, moebius syndrome and congenital central alveolar hypoventilation: case report Associação de misoprostol, síndrome de Moebius e hipoventilação central congênita: relato de caso

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    MAGDA LAHORGUE NUNES

    1999-03-01

    Full Text Available We report a case showing the association of Moebius syndrome, the use of misoprostol during pregnancy and the development of central congenital alveolar hypoventilation. Pathophysiological aspects of these three diseases are discussed and also the unfavorable prognosis of this association.Descrevemos o caso de um paciente com Síndrome de Moebius associada ao uso de misoprostol durante a gestação. A criança necessitou de suporte ventilatório desde o primeiro dia de vida e evoluiu com quadro de hipoventilação alveolar central congênita, persistindo dependente de ventilação mecânica. São discutidos aspectos fisiopatológicos que poderiam justificar a comorbidade destes três eventos, assim como o prognóstico reservado desta associação.

  2. Ventilatory support and pharmacological treatment of patients with central apnoea or hypoventilation during sleep

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    D. Pevernagie

    2007-12-01

    Full Text Available The concept of central sleep apnoea or hypoventilation encompasses hypercapnic central hypoventilation, such as obesity hypoventilation syndrome and eucapnic or hypocapnic central sleep apnoea. Among subjects with eucapnic or hypocapnic central sleep apnoea, several therapeutic options are available for those with Cheyne–Stokes respiration (CSR. CSR is frequent in patients with New York Heart Association stage III and IV chronic heart failure, and in various neurological disorders. In these patients, treatment modalities include optimising cardiac condition and drugs, such as theophylline, acetazolamide and/or oxygen. Ventilatory support, such as nasal continuous positive airway pressure (CPAP, bi-level pressure support, or adaptive servo-ventilation (ASV, has been shown to improve CSR in patients with cardiac failure; however, convincing evidence that nasal CPAP improves life expectancy in these patients is lacking. Nevertheless, the treatment of associated obstructive sleep-disordered breathing is indicated per se, as it may improve cardiac function. There is currently no proof that bi-level ventilation is superior to nasal CPAP. The few available studies that have focused on ASV have shown satisfactory control of CSR in cardiac failure patients. While ASV is not a first-line treatment choice, it appears to be superior to oxygen, CPAP and bi-level pressure ventilation in controlling the apnoea/hypopnea index and probably sleep fragmentation. As yet there are no data on mortality and, as such, firm conclusions cannot be drawn as to the role of ASV in the management of cardiac failure patients suffering from CSR. Obesity-related hypoventilation has increased dramatically over recent decades due to the epidemic increase in obesity in the developed countries. Obesity hypoventilation syndrome predisposes to the development of pulmonary hypertension and cor pulmonale. Noninvasive home ventilation is increasingly applied in obese patients with

  3. Vocal cord collapse during phrenic nerve-paced respiration in congenital central hypoventilation syndrome [v1; ref status: indexed, http://f1000r.es/Sh1pwj

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    Mark C Domanski

    2012-11-01

    Full Text Available Objective: Phrenic nerve pacing can be used to treat congenital central hypoventilation syndrome (CCHS. We report how the lack of normal vocal cord tone during phrenic paced respiration can result in passive vocal cord collapse and produce obstructive symptoms. Methods: We describe a case of passive vocal cord collapse during phrenic nerve paced respiration in a patient with CCHS. As far as we know, this is the first report of this etiology of airway obstruction. The patient, a 7-year-old with CCHS and normal waking vocal cord movement, continued to require nightly continuous positive airway pressure (CPAP despite successful utilization of phrenic nerve pacers. On direct laryngoscopy, the patient’s larynx was observed while the diaphragmatic pacers were sequentially engaged. Results: No abnormal vocal cord stimulation was witnessed during engaging of either phrenic nerve stimulator. However, the lack of normal inspiratory vocal cord abduction during phrenic nerve-paced respiration resulted in vocal cord collapse and partial obstruction due to passive adduction of the vocal cords through the Bernoulli effect. Bilateral phrenic nerve stimulation resulted in more vocal cord collapse than unilateral stimulation. Conclusions: The lack of vocal cord abduction on inspiration presents a limit to phrenic nerve pacers.

  4. Eclampsia as a cause of secondary non-obstructive central sleep hypoventilation.

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    Štourač, P; Hradilová, T; Straževská, E; Turčáni, P; Štouračová, A; Janků, P; Skřičková, J; Gál, R

    2015-01-01

    The central alveolar hypoventilation of Ondine's curse is a disorder characterized by absent or diminished ventilatory response to hypercapnia, hypoxia or both, with parallel decrease in saturation to 50%. The secondary form may begin mainly after insult that affects the brain stem. We present a case of a 24-years old primipara in the 41st gestational week with an uncomplicated course of pregnancy and with secondary non-obstructive sleeping hypoventilation which occurred after eclamptic seizure. This obstetric case provides evidence for the benefit of home BiPAP use for patients with secondary Ondine's curse. PMID:25723073

  5. Genetics Home Reference: congenital central hypoventilation syndrome

    Science.gov (United States)

    ... face and skull, and other tissue and cell types. Mutations are believed to interfere with the PHOX2B protein's role in promoting neuron formation and differentiation, especially in the autonomic nervous ...

  6. Respiratory mechanics and ventilatory control in overlap syndrome and obesity hypoventilation

    OpenAIRE

    Verbraecken, Johan; Walter T. McNicholas

    2013-01-01

    The overlap syndrome of obstructive sleep apnoea (OSA) and chronic obstructive pulmonary disease (COPD), in addition to obesity hypoventilation syndrome, represents growing health concerns, owing to the worldwide COPD and obesity epidemics and related co-morbidities. These disorders constitute the end points of a spectrum with distinct yet interrelated mechanisms that lead to a considerable health burden. The coexistence OSA and COPD seems to occur by chance, but the combination can contribut...

  7. Obesity hypoventilation syndrome%肥胖低通气综合征

    Institute of Scientific and Technical Information of China (English)

    焦俊; 张睢扬; 宋云熙

    2012-01-01

    Obesity hypoventilation syndrome is the association between obesity and the development of chronic daytime alveolar hypoventilation. This syndrome caused by the a complex interaction between sleep-disordered breathing, diminished respiratory drive and obesity-related respiratory impairment,and is associated with significant morbidity and mortality. Therapy directed toward reversing these abnormalities and to improved daytime breathing,with available treatment options including positive pressure therapy,weight loss,and pharmacological management.However,due to the lack of large-scale,well-designed studies evaluating these various therapies has limited the development of evidence-based treatment recommendations. Although treatment directed toward improving sleepdisordered breathing is usually effective,not all patients tolerate mask ventilation and awake hypercapnia may persist despite effective use.In the longer term,weight loss is desirable,but data on the success and sustainability of this approach in obesity hypoventilation are still insufficient.This abstract outlines the main mechanisms, clinical presentations and current therapy options of the obesity hypoventilation syndrome.%肥胖低通气综合征是指由肥胖导致的日间的慢性通气不足.其发病机制包括睡眠呼吸紊乱,呼吸驱动力减低以及与肥胖相关的呼吸系统受损等,并有显著的发病率和病死率.治疗方法主要包括正压通气、减肥及药物治疗等.但是,由于缺乏大规模的研究对各种疗法进行评估,限制了循证推荐治疗的发展进程.针对改善睡眠呼吸紊乱的治疗通常是有效的,但并非所有患者都能够忍受面罩通气,且尽管有效,但清醒状态下的高碳酸血症可能会持续存在.从更长远的角度来说,减肥是可取的,但是缺乏其在治疗肥胖肺通气不足的成功率和持续性的数据.这篇文章主要阐述肥胖低通气综合征的主要机制、临床表现及目前的治疗方案.

  8. [Noninvasive ventilation: efficacy of a new ventilatory mode in patients with obesity-hypoventilation syndrome].

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    Couillard, A; Pepin, J-L; Rabec, C; Cuvelier, A; Portmann, A; Muir, J-F

    2015-03-01

    Noninvasive ventilation is recommended to correct the nocturnal hypoventilation and relieve the symptoms of patients with the obesity-hypoventilation syndrome (OHS). The benefits of fixed pressure ventilation (S/T technology) are recognized but limited on account of the variability of nocturnal ventilatory requirements. The new technique AVAPS-AE (automatic EPAP) allows adjustment of the pressure according to the volume currently targeted. Its efficacy has not yet been evaluated. Our objectives are to evaluate firstly, whether AVAPS-AE optimizes the benefits of S/T technology on sleep architecture and quality, secondly, whether these benefits are associated with an improvement in gas exchange, symptoms, exercise tolerance, level of physical activity and quality of life of patients with OHS. In this multicenter trial, 60 newly diagnosed patients with OHS will be randomized to the control (S/T) and trial (AVAPS-AE) groups. A standardized titration procedure will be followed for the calibration of the ventilators. Functional evaluations (polysomnography, blood gases, impedance measurements and walking tests), questionnaires (physical activity, quality of life, quality of sleep and daytime somnolence) visual scales (fatigue, headaches) and a recording of activity will be undertaken after two months of ventilation. PMID:25847207

  9. Non-invasive ventilation in obesity hypoventilation syndrome without severe obstructive sleep apnoea

    Science.gov (United States)

    Masa, Juan F; Corral, Jaime; Caballero, Candela; Barrot, Emilia; Terán-Santos, Joaquin; Alonso-Álvarez, Maria L; Gomez-Garcia, Teresa; González, Mónica; López-Martín, Soledad; De Lucas, Pilar; Marin, José M; Marti, Sergi; Díaz-Cambriles, Trinidad; Chiner, Eusebi; Egea, Carlos; Miranda, Erika; Mokhlesi, Babak; García-Ledesma, Estefanía; Sánchez-Quiroga, M-Ángeles; Ordax, Estrella; González-Mangado, Nicolás; Troncoso, Maria F; Martinez-Martinez, Maria-Ángeles; Cantalejo, Olga; Ojeda, Elena; Carrizo, Santiago J; Gallego, Begoña; Pallero, Mercedes; Ramón, M Antonia; Díaz-de-Atauri, Josefa; Muñoz-Méndez, Jesús; Senent, Cristina; Sancho-Chust, Jose N; Ribas-Solís, Francisco J; Romero, Auxiliadora; Benítez, José M; Sanchez-Gómez, Jesús; Golpe, Rafael; Santiago-Recuerda, Ana; Gomez, Silvia; Bengoa, Mónica

    2016-01-01

    Background Non-invasive ventilation (NIV) is an effective form of treatment in patients with obesity hypoventilation syndrome (OHS) who have concomitant severe obstructive sleep apnoea (OSA). However, there is a paucity of evidence on the efficacy of NIV in patients with OHS without severe OSA. We performed a multicentre randomised clinical trial to determine the comparative efficacy of NIV versus lifestyle modification (control group) using daytime arterial carbon dioxide tension (PaCO2) as the main outcome measure. Methods Between May 2009 and December 2014 we sequentially screened patients with OHS without severe OSA. Participants were randomised to NIV versus lifestyle modification and were followed for 2 months. Arterial blood gas parameters, clinical symptoms, health-related quality of life assessments, polysomnography, spirometry, 6-min walk distance test, blood pressure measurements and healthcare resource utilisation were evaluated. Statistical analysis was performed using intention-to-treat analysis. Results A total of 365 patients were screened of whom 58 were excluded. Severe OSA was present in 221 and the remaining 86 patients without severe OSA were randomised. NIV led to a significantly larger improvement in PaCO2 of −6 (95% CI −7.7 to −4.2) mm Hg versus −2.8 (95% CI −4.3 to −1.3) mm Hg, (p<0.001) and serum bicarbonate of −3.4 (95% CI −4.5 to −2.3) versus −1 (95% CI −1.7 to −0.2 95% CI)  mmol/L (p<0.001). PaCO2 change adjusted for NIV compliance did not further improve the inter-group statistical significance. Sleepiness, some health-related quality of life assessments and polysomnographic parameters improved significantly more with NIV than with lifestyle modification. Additionally, there was a tendency towards lower healthcare resource utilisation in the NIV group. Conclusions NIV is more effective than lifestyle modification in improving daytime PaCO2, sleepiness and polysomnographic parameters. Long

  10. Central Pain Syndrome

    Science.gov (United States)

    ... Enhancing Diversity Find People About NINDS NINDS Central Pain Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

  11. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature

    OpenAIRE

    Chew, H B; Ngu, L H; Keng, W.T.

    2011-01-01

    A rare syndrome of rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) has been recently described. We report the first patient with this syndrome in Southeast Asia and review reported cases to date. Our patient was good health with normal development until the age of 2. He then developed hyperphagic obesity, hypersomnolence, seizures, alveolar hypoventilation, central hypothyroidism, sodium and water dysregulation, gastrointestinal dysmotil...

  12. Alveolar hypoventilation treated with medroxyprogesterone.

    OpenAIRE

    Milerad, J; Lagercrantz, H.; Löfgren, O

    1985-01-01

    Two children aged 1 and 20 months developed alveolar hypoventilation syndrome. They suffered severe apnoeic episodes and periodically required assisted ventilation. Their ventilatory response to carbon dioxide was lower than that of normal children and the transcutaneous oxygen tension during sleep was well below the normal range. Treatment with medroxyprogesterone acetate resulted in an improved response to carbon dioxide, and assisted ventilation was no longer needed. Oxygen and carbon diox...

  13. [Central anticholinergic syndrome].

    Science.gov (United States)

    Fernández Urretavizcaya, P; Cenoz Osinaga, J C; Jáuregui Garía, M L; Gállego Culleré, J

    1991-10-01

    Two new cases of anticolinergic central syndrome are described. The first case, a 8 year old girl, suffered a severe encefalopathy after topical application of mydriatic cholirio as an aid in a rutine study of ocular refraction. The second case, 67 year old man presented a severe neurological picture after accidental intake of a silvester plantground (Atropa belladonna). His neurological condition returned quickly to normal whith administration of physostigmine. Differents aspects of the etiology, clinical picture and diagnosis are discussed with special emphasis in patients with delirium or acute confusional states. Finally, attention is drawn in the necessity of a properly use of anticholinergic drugs overcoat in aged or children.

  14. Chiari malformation and central sleep apnea syndrome: efficacy of treatment with adaptive servo-ventilation

    Directory of Open Access Journals (Sweden)

    Jorge Marques do Vale

    2014-10-01

    Full Text Available The Chiari malformation type I (CM-I has been associated with sleep-disordered breathing, especially central sleep apnea syndrome. We report the case of a 44-year-old female with CM-I who was referred to our sleep laboratory for suspected sleep apnea. The patient had undergone decompressive surgery 3 years prior. An arterial blood gas analysis showed hypercapnia. Polysomnography showed a respiratory disturbance index of 108 events/h, and all were central apnea events. Treatment with adaptive servo-ventilation was initiated, and central apnea was resolved. This report demonstrates the efficacy of servo-ventilation in the treatment of central sleep apnea syndrome associated with alveolar hypoventilation in a CM-I patient with a history of decompressive surgery.

  15. 无创正压通气治疗肥胖低通气综合征并发心力衰竭的探讨%NONINVASIVE POSITIVE PRESSURE VENTILATION ON PATIENTS WITH OBESITY HYPOVENTILATION SYNDROME COMPLICATED BY HEART FAILURE

    Institute of Scientific and Technical Information of China (English)

    宋琼珠; 欧阳松云; 孙培宗; 陈瑞英

    2014-01-01

    目的:探讨肥胖低通气综合征( obesity hypoventilation syndrome,OHS)并发心力衰竭的有效治疗方法。方法回顾性分析120例OHS合并心力衰竭患者,无创正压通气( noninvasive positive pressure ventilation,NPPV)组60例采用NPPV加常规抗心力衰竭药物治疗,对照组60例常规抗心力衰竭药物治疗,比较2组治疗前、治疗6个月后相关指标。结果对照组治疗后动脉血气分析、脑利钠肽( brain natriuretic peptide,BNP)、心脏彩超、多导睡眠监测(polysomnography,PSG)均恶化(P﹤0.05或﹤0.01)。NPPV组治疗后体质量指数(body mass index,BMI)下降,动脉血气分析、BNP、心脏彩超、PSG均明显好转( P﹤0.01)。治疗后与对照组比较,NPPV组BMI、动脉血气分析、BNP、心脏彩超、PSG均明显好转( P﹤0.01)。结论 OHS并发心力衰竭常规抗心力衰竭疗效不佳,及早行NPPV治疗预后良好。%Objective To explore effective treatments for patients with obesity hypoventilation syndrome complicated by heart failure. Methods Retrospective analysis was performed on 120 patients with obesity hypoventilation syndrome complicated by heart failure. Noninvasive positive pressure ventilation( NPPV)group(60 cases)was treated with NPPV and medications,and the control group(60 cases)only with medications. The related indicators and curative effects before treatment,6 months after treatment were compared between two groups. Results Arterial blood gas analysis,brain natriuretic peptide( BNP ),echocardiography and polysomnography( PSG ) the control group after treatment all worsened(P﹤0. 05 or ﹤0. 01). Body mass index(BMI)decreased,arterial blood gas analysis,BNP, echocardiography and PSG of NPPV group after treatment all improved significantly( P ﹤ 0 . 01 ). Compared with control group after treatment,NPPV group improved significantly in BMI,arterial blood gas analysis,BNP,echocardiography and PSG( P ﹤0

  16. Imaging central pain syndromes.

    Science.gov (United States)

    Veldhuijzen, Dieuwke S; Greenspan, Joel D; Kim, Jong H; Coghill, Robert C; Treede, Rolf-Detlef; Ohara, Shinji; Lenz, Frederick A

    2007-06-01

    Anatomic, functional, and neurochemical imaging studies have provided new investigative tools in the study of central pain. High-resolution imaging studies allow for precise determination of lesion location, whereas functional neuroimaging studies measure pathophysiologic consequences of injury to the central nervous system. Additionally, magnetic resonance spectroscopy evaluates lesion-induced neurochemical changes in specific brain regions that may be related to central pain. The small number of studies to date precludes definitive conclusions, but the recent findings provide information that either supports or refutes current hypotheses and can serve to generate new ideas.

  17. Respiratory failure associated with hypoventilation in a patient with severe hypothyroidism

    OpenAIRE

    Fukusumi, Munehisa; Iidaka, Toshiko; Mouri, Atsuto; Hamamoto, Yoichiro; Kamimura, Mitsuhiro

    2014-01-01

    A 70-year-old Japanese man was admitted to hospital because of decreased consciousness due to type II respiratory failure. Severe hypothyroidism was diagnosed and considered to be associated with hypoventilation due to respiratory muscle dysfunction and sleep apnea syndrome. His status was improved partially by replacement of thyroid hormone. Despite maintaining a euthyroid state, improvement of respiratory muscle dysfunction was incomplete.

  18. Vasculitis Syndromes of the Central and Peripheral Nervous Systems

    Science.gov (United States)

    ... About NINDS Vasculitis Syndromes of the Central and Peripheral Nervous Systems Fact Sheet See a list of all NINDS ... 496-5717 "Vasculitis Syndromes of the Central and Peripheral Nervous Systems Fact Sheet", NINDS, Publication date July 2011. NIH ...

  19. Metabolic syndrome and central retinal artery occlusion

    Directory of Open Access Journals (Sweden)

    Kosanović-Jaković Natalija

    2005-01-01

    Full Text Available Background. The accumulation of risk factors for central retinal artery occlusion can be seen in a single person and might be explained by the metabolic syndrome. Case report. We presented the case of a 52-year-old man with no light perception in his right eye. The visual loss was monocular and painless, fundoscopy showed central retinal artery occlusion and the laboratory investigation showed the raised erythrocyte sedimentation rate of 105 mm/h and the raised C-reactive protein of 22 mg/l. Specific laboratory investigations and fluorescein angiography excluded the presence of vasculitis, collagen vascular diseases, hypercoagulable state and antiphospholipid syndrome. Conclusion. The patient met all the five of the National Cholesterol Education Program (NCEP criteria for the metabolic syndrome: hypertension, abnormal lipid profile, abnormal glucose metabolism, obesity and hyperuricemia. Measurement of C-reactive protein is useful for the assessment of therapeutic systemic effect on any abnormality in the metabolic syndrome. Individual therapy for all risk factors in the metabolic syndrome is necessary to prevent complications such as cardiovascular, retinal vascular diseases and stroke.

  20. Solitary median maxillary central incisor (SMMCI) syndrome

    OpenAIRE

    Hall Roger K

    2006-01-01

    Abstract Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th–38th day(s) from conception. It is estimated to occur in 1:50,000 live births. Aetiology is uncertain. Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. The SMMCI tooth differs from the normal central incisor, in that the crown form is symmetric; i...

  1. Metabolic syndrome and central retinal artery occlusion

    OpenAIRE

    Kosanović-Jaković Natalija; Petrović Lidija; Risimić Dijana; Milenković Svetislav; Matić Danica

    2005-01-01

    Background. The accumulation of risk factors for central retinal artery occlusion can be seen in a single person and might be explained by the metabolic syndrome. Case report. We presented the case of a 52-year-old man with no light perception in his right eye. The visual loss was monocular and painless, fundoscopy showed central retinal artery occlusion and the laboratory investigation showed the raised erythrocyte sedimentation rate of 105 mm/h and the raised C-reactive protein of 22 mg/l. ...

  2. Contemporary Insights and Novel Treatment Approaches to Central Sleep Apnea Syndrome in Heart Failure

    OpenAIRE

    Grayburn, Ryan L.; Kaka, Yaquta; Wilson Tang, W. H.

    2014-01-01

    Central sleep apnea (CSA) is a common and under-diagnosed condition commonly associated with Cheyne-Stokes respiration. It is particularly prevalent in the heart failure population affecting up to 40% of all patients with heart failure. The pathophysiology associated with CSA is based on the underlying effects of hypoventilation and hyperventilation, with neurologic dysregulation of respiratory control as the primary defect. However, therapeutic options are limited due to the prevailing perce...

  3. HOXA1 mutations are not a common cause of Möbius syndrome.

    Science.gov (United States)

    Rankin, Jessica K; Andrews, Caroline; Chan, Wai-Man; Engle, Elizabeth C

    2010-02-01

    The HOXA1-related syndromes result from autosomal-recessive truncating mutations in the homeobox transcription factor, HOXA1. Limited horizontal gaze and sensorineural deafness are the most common features; affected individuals can also have facial weakness, mental retardation, autism, motor disabilities, central hypoventilation, carotid artery, and/or conotruncal heart defects. Möbius syndrome is also phenotypically heterogeneous, with minimal diagnostic criteria of nonprogressive facial weakness and impaired ocular abduction; mental retardation, autism, motor disabilities, additional eye movements restrictions, hearing loss, hypoventilation, and craniofacial, lingual, and limb abnormalities also occur. We asked, given the phenotypic overlap between these syndromes and the variable expressivity of both disorders, whether individuals with Möbius syndrome might harbor mutations in HOXA1. Our results suggest that HOXA1 mutations are not a common cause of sporadic Möbius syndrome in the general population. PMID:20227628

  4. HOXA1 mutations are not a common cause of Möbius syndrome

    OpenAIRE

    Rankin, Jessica K.; Andrews, Caroline; Chan, Wai-man; Engle, Elizabeth C

    2010-01-01

    The HOXA1-related syndromes result from autosomal recessive truncating mutations in the homeobox transcription factor, HOXA1. Limited horizontal gaze and sensorineural deafness are the most common features; affected individuals can also have facial weakness, mental retardation, autism, motor disabilities, central hypoventilation, carotid artery and/or conotruncal heart defects. Möbius syndrome is also phenotypically heterogeneous, with minimal diagnostic criteria of nonprogressive facial weak...

  5. A Review of Select Centralized Pain Syndromes

    Directory of Open Access Journals (Sweden)

    David R. Spiegel

    2015-01-01

    Full Text Available Pain can be broadly divided into 3 classes, including nociceptive or inflammatory pain (protective, neuropathic (pathological, occurring after damage to the nervous system, or centralized (pathological, due to abnormal function but with no damage or inflammation to the nervous system. The latter has been posited to occur when descending analgesic pathways are attenuated and/or glutamatergic transmission is facilitated. Additionally, this “pain prone phenotype” can be associated with early life trauma and a suboptimal response to opiates. This article will review the relationships between centralized pain syndromes (ie, fibromyalgia, chronic low back pain, childhood sexual abuse, and opiate misuse. Finally, treatment implications, potentially effecting primary care physicians, will be discussed.

  6. A case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat PHOX2B mutation.

    Science.gov (United States)

    Low, K J; Turnbull, A R; Smith, K R; Hilliard, T N; Hole, L J; Meecham Jones, D J; Williams, M M; Donaldson, A

    2014-10-01

    We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non-polyalanine repeat mutation. This family demonstrates extreme phenotypic variability and autosomal dominant transmission over three generations not previously reported in the wider literature. Novel findings also inclue a history of recurrent second trimester miscarriage. Pediatr Pulmonol. 2014; 49:E140-E143. © 2014 Wiley Periodicals, Inc.

  7. Solitary median maxillary central incisor (SMMCI) syndrome.

    Science.gov (United States)

    Hall, Roger K

    2006-01-01

    Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th-38th day(s) from conception. It is estimated to occur in 1:50,000 live births. Aetiology is uncertain. Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. The SMMCI tooth differs from the normal central incisor, in that the crown form is symmetric; it develops and erupts precisely in the midline of the maxillary dental arch in both primary and permanent dentitions. Congenital nasal malformation (choanal atresia, midnasal stenosis or congenital pyriform aperture stenosis) is positively associated with SMMCI. The presence of an SMMCI tooth can predict associated anomalies and in particular the serious anomaly holoprosencephaly. Common congenital anomalies associated with SMMCI are: severe to mild intellectual disability, congenital heart disease, cleft lip and/or palate and less frequently, microcephaly, hypopituitarism, hypotelorism, convergent strabismus, oesophageal and duodenal atresia, cervical hemivertebrae, cervical dermoid, hypothyroidism, scoliosis, absent kidney, micropenis and ambiguous genitalia. Short stature is present in half the children. Diagnosis should be made by eight months of age, but can be made at birth and even prenatally at 18-22 weeks from the routine mid-trimester ultrasound scan. Management depends upon the individual anomalies present. Choanal stenosis requires emergency surgical treatment. Short stature may require growth hormone therapy. SMMCI tooth itself is mainly an aesthetic problem, which is ideally managed by combined orthodontic, prosthodontic and oral surgical treatment; alternatively, it can be left untreated. PMID:16722608

  8. Solitary median maxillary central incisor (SMMCI syndrome

    Directory of Open Access Journals (Sweden)

    Hall Roger K

    2006-04-01

    Full Text Available Abstract Solitary median maxillary central incisor syndrome (SMMCI is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s operating in utero about the 35th–38th day(s from conception. It is estimated to occur in 1:50,000 live births. Aetiology is uncertain. Missense mutation in the SHH gene (I111F at 7q36 may be associated with SMMCI. The SMMCI tooth differs from the normal central incisor, in that the crown form is symmetric; it develops and erupts precisely in the midline of the maxillary dental arch in both primary and permanent dentitions. Congenital nasal malformation (choanal atresia, midnasal stenosis or congenital pyriform aperture stenosis is positively associated with SMMCI. The presence of an SMMCI tooth can predict associated anomalies and in particular the serious anomaly holoprosencephaly. Common congenital anomalies associated with SMMCI are: severe to mild intellectual disability, congenital heart disease, cleft lip and/or palate and less frequently, microcephaly, hypopituitarism, hypotelorism, convergent strabismus, oesophageal and duodenal atresia, cervical hemivertebrae, cervical dermoid, hypothyroidism, scoliosis, absent kidney, micropenis and ambiguous genitalia. Short stature is present in half the children. Diagnosis should be made by eight months of age, but can be made at birth and even prenatally at 18–22 weeks from the routine mid-trimester ultrasound scan. Management depends upon the individual anomalies present. Choanal stenosis requires emergency surgical treatment. Short stature may require growth hormone therapy. SMMCI tooth itself is mainly an aesthetic problem, which is ideally managed by combined orthodontic, prosthodontic and oral surgical treatment; alternatively, it can be left untreated.

  9. Radiofrequency Plasma Ablation at Multi Spots for Obstructive Sleep Apnea Hypoventilation Syndrome%多部位射频等离子消融术治疗阻塞性睡眠呼吸暂停低通气综合征

    Institute of Scientific and Technical Information of China (English)

    汪永干; 蔡强; 史前妹; 胡春玖; 林忠明; 汪延宏; 胡联国; 毕永华; 谢芳; 周具华

    2011-01-01

    Objective To investigate the efficacy of radiofrequency plasma ablation at multi sites for the treatment of obstructive sleep apnea hypoventilation syndrome (OSAHS). Methods From August 2003 to May 2009, 30 cases of mild,moderate and severe OSAHS were treated under local anesthesia. ENT Coblator with Reflex45 and Reflex55 knifes were adopted to ablate the head of the middle-inferior turbinate, soft palate, uvula, root of tongue, and tonsil with the assistance by H-UPPP. A11 the cases were followed up for one year by polysomnography monitoring at 6th and 12th month to evaluate curative effect. Results No serious complications occurred in our cases. In the patients, 21 received once ablation at the middle-inferior turbinate, soft palate,uvula, root of tongue, and tonsil, 6 received twice, and 3 underwent trice. In 6 months after the operation, 7 cases were cured, 16 were markedly improved, 5 were improved, and 2 were not improved, and the effective rate was 93.3% (28/30). In 12 months after the operation, 5 cases were cured ( 16.7% ) , 13 cases were markedly improved (43.3%) , 7 cases were improved (23.3%) , and 5 were not improved ( 16.7% ), the effective rate was 83.3% (25/30). Conclusion Low-temperature plasma radiofrequency ablation at multi sites is safe and effective for patients with OSAHS, who are easy to accept and repeat the treatment, but its long-term efficacy needs to be further observed.%目的 探讨多部位射频等离子消融术治疗阻塞性睡眠呼吸暂停低通气综合征(obstructive sleep apnea hypoventilation syndrome,OSAHS)的疗效.方法 2003年8月~2009年5月对30例轻、中、重度OSAHS,局麻下采用ENT Coblator等离子手术系统治疗仪和Reflex45、Reflex55刀头,分别对阻塞部位的下鼻甲、软腭、悬雍垂、舌根、扁桃体等进行消融术和射频等离子辅助下H-UPPP.术后6、12个月复查多导睡眠监测,判定疗效.结果 中下鼻甲、肥厚咽侧索、扁桃体

  10. 阻塞性睡眠呼吸暂停低通气综合征患者膈肌肌电图的变化及意义%Change of diaphragm electromyograms in patients with obstructive sleep apnea-hypoventilation syndrome and its significance

    Institute of Scientific and Technical Information of China (English)

    侯宇虹; 陈荣昌; 罗远明; 钟南山

    2009-01-01

    Objective To explore change of diaphragm electromyograms in patients with obstructive sleep apnea-hypoventilation syndrome (OSAHS) before and after nocturnal sleep, as well as effective nasal continuous positive airway pressure (n-CPAP) ventilation treatment for more than two months. Methods Diaphragm electromyogram was recorded with chest surface electrodes in 22 patients with moderate and severe OSAHS and 24 normal people, and phrenic nerve conduction time (PNCT) and diaphragm compound muscle action potential (CMAP) provoked by unilateral magnetic stimulation (UMS) were measured for them before and after sleep. Measurements were repeated for five patients with severe OSAHS after effective OSAHS patients before and after nocturnal sleep than that in normal people bilaterally, (8.4±0. 6)ms and (8.4±0. 9)ms vs (7. 3±0. 8)ms and (7. 3±0. 8) ms for the left side; and (8.4±1.3) ms and (8. 9 ± 0. 8) ms vs (7.2 ± 0. 8) ms and (7.2 ± 0. 8 ) ms for the right side ( P 0.05).5例重度OSAHS患者经有效经鼻持续气道正压通气治疗超过2个月后,双侧PNCT较治疗前显著缩短[左侧为(8.6±0.7)ms与(7.4±0.5)ms,右侧为(7.8±0.6)ms与(6.4±0.6)ms,均P<0.05].结论 OSAHA患者膈神经传导和膈肌功能减弱,可能与长期夜间缺氧和(或)睡眠结构紊乱有关.

  11. Sjogrens Syndrome Presenting with Central Nervous System Involvement

    Directory of Open Access Journals (Sweden)

    Tülay Terzi

    2012-01-01

    Full Text Available Sjogren’s syndrome is a slowly progressive autoimmune disease. Neurological involvement occurs in approximately 20-25% cases in Sjogren’s syndrome. 87% of the neurological involvement is peripheral nervous system, almost 13% in the form of central nervous system involvement. Affected central nervous system may show similar clinical and radiological findings as in multiple sclerosis (MS. In this paper, a 43-year-old patient is discussed who was referred with the complaint of dizziness, there was MS- like lesions in brain imaging studies and was diagnosed with Sjogren’s syndrome. MS- like clinical and radiologic tables can be seen, albeit rarely in Sjogren’s syndrome. In these cases, early diagnosis and early treatment for the sjögren has a great importance for the prognosis of the disease.

  12. Paraneoplastic Syndromes of the Central Nervous System

    NARCIS (Netherlands)

    J.W.B. Moll (Wibe)

    1996-01-01

    textabstractIn recent years a continuous stream of new information on clinical, pathological and immunological aspects of paraneoplastic neurological syndromes has been published. In this survey, we will discuss current opinions on the value of anti-neuronal antibody detection for establishing a dia

  13. The central anticholinergic syndrome in the postoperative period

    NARCIS (Netherlands)

    J. Rupreht (Joze); B. Dworacek (B.)

    1990-01-01

    markdownabstractRésumé Le syndrome anticholinergique central (SAC) comporte des signes centraux (somnolence, confusion, amnésie, agitation, hallucination, dysarthrie, ataxie, délire, stupeur, coma) et des signes périphériques (sécheresse buccale et/ou cutanée, tachycardie, troubles visuels et mict

  14. Masquerade Syndrome of Multicentre Primary Central Nervous System Lymphoma

    Directory of Open Access Journals (Sweden)

    Silvana Guerriero

    2011-01-01

    Full Text Available Purpose. In Italy we say that the most unlucky things can happen to physicians when they get sick, despite the attention of colleagues. To confirm this rumor, we report the sad story of a surgeon with bilateral vitreitis and glaucoma unresponsive to traditional therapies. Methods/Design. Case report. Results. After one year of steroidal and immunosuppressive therapy, a vitrectomy, and a trabeculectomy for unresponsive bilateral vitreitis and glaucoma, MRI showed a multicentre primary central nervous system lymphoma, which was the underlying cause of the masquerade syndrome. Conclusions. All ophthalmologists and clinicians must be aware of masquerade syndromes, in order to avoid delays in diagnosis.

  15. Rare association of central pontine myelinolysis with infantile tremor syndrome

    Directory of Open Access Journals (Sweden)

    Kalpana Datta

    2012-01-01

    Full Text Available Central pontine myelinolysis (CPM is an acute demyelination within the central basis pontis. Though exact mechanism is not known it is seen commonly with rapid correction of hyponatremia and also with pontine ischemia or infarction, demyelinating diseases, pontine neoplasm and different metabolic diseases. We report a rare association of CPM in a patient of Infantile Tremor Syndrom (ITS. ITS is a syndrome of tremor, mental and physical retardation, pigmentary changes of hair and skin and anemia in malnourished children. Though first reported in Indian subcontinent many identical cases were reported from around the world. Our case is a 15 month old child with generalized tremor, mild hepatosplenomegaly with features of grade II malnutrition including skin and hair changes. All the signs and symtoms of tremor improved after treatment with the World Health Organization (WHO protocol for protein energy malnutrition (PEM and administration of propranolol without any side effects.

  16. [Two cases of solitary median maxillary central incisor syndrome].

    Science.gov (United States)

    Catania, P; Conti, C; Poggi, G M; Bardelli, T; Lasagni, D; De Martino, M

    2010-02-01

    Solitary median maxillary central incisor syndrome (SMMCI) syndrome is a unique developmental abnormality arising from an unknown event occurring between the 35th and 38th days in utero, and involving mieline structure of the head including the cranial bones, the maxilla and its container dentition (specifically the central incisor tooth germ), together with other midline structures of the body. The SMMCI tooth may be possibly occur as an isolated trait or in association with many other midline developmental anomalies. It is estimated to occur in 1:50000 live births. There is a wide variability in the phenotypic spectrum. SMMCI is considered one of the most minimal expressions of the holoprosencephaly spectrum. Mutation in the Sonic Hedgehog homolog (SHH) gene may be associated with SSMMCI, but recent studies suggests the existence of several other candidate genes. We described two patients with SMMCI. They presented a solitary median maxillary incisor, short stature, hipotelorism and corpus callosus anomalies found on magnetic resonance imaging (MRI). They also present severe hiponatremia. At the best of our knowledge, this is the first report of cases of SMMCI with hiponatremia. We suggest that the sodium disorder may be secondary to syndrome of inappropriate secretion of antidiuretic hormone (SIADH). PMID:20212404

  17. Clinical observations of metabolic disturbance in patients with obstructive sleep apnea-hypoventilation syndrome%阻塞性睡眠呼吸暂停低通气综合征患者代谢紊乱的临床观察

    Institute of Scientific and Technical Information of China (English)

    常桂娟; 祖菲亚; 张德莲; 李南方

    2008-01-01

    Objectives To investigate the relationship between obstructive sleep apnea hypoventilation syndrome (OSAHS), insulin resistance (IR) and metabolic syndrome (MS), as well as to explore the possible mechanism of MS caused by OSAHS. Methods We recruited 186 hospitalized patients with hypertensions, who were divided into four groups based on their nocturnal polygraphs recordings, 35 as controls (group Ⅰ), 61 with mild (group Ⅱ), 52 with moderate (group Ⅲ) and 38 with severe OSAHS (group Ⅳ). They all underwent measurements including body height, body weight, waist circumference (WC), systolic and diastolic blood pressure (SBP and DBP), serum uric acid, creatinine, fasting plasma glucose, fasting plasma insulin, serum total cholesterol, high-density lipoprotein-cholesterul, low-density lipoprotein-cholesterol and triglyceride. Results One hundred and two patients with OSAHS (67.6 percent) also suffered of MS, 33 (86.8 percent) of them with severe OSAHS. There was no significant difference in age, gender, fasting plasma glucose, total cholesterol, high-density lipoprutein-cholesterul, low-density lipoprotein-cholesterol and triglyceride among the four groups (P>0.05). Body mass index (BMI), WC, ratio of serum uric acid to creatinine and DBP were all significantly higher in patients with severe OSAHS than those in patients with mild and moderate OSAHS and controls (P<0.01). SBP was significantly higher in patients with severe OSAHS than that in those with mild and moderate OSAHS (P<0.01). Insulin resistance was significantly severer in patients with severe OSAHS than that in those with mild OSAHS and controls (P<0.01). Results of multivariate linear regression analysis showed that insulin resistance was correlated with BMI and reversely correlated with minimal blood oxygen saturation, and minimal blood oxygen saturation reversely correlated with WC and ratio of uric acid to creatinine. Condusions Hypoxemia and obesity may promote development of insulin resistance

  18. Pseudo-piano playing motions and nocturnal hypoventilation in anti-NMDA receptor encephalitis: response to prompt tumor removal and immunotherapy.

    Science.gov (United States)

    Uchino, Akiko; Iizuka, Takahiro; Urano, Yoshiaki; Arai, Masahide; Hara, Atsuko; Hamada, Junichi; Hirose, Ryuichi; Dalmau, Josep; Mochizuki, Hideki

    2011-01-01

    Tumor resection is recommended in anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, however it is often difficult during an early stage of the disease. We report here the efficacy of early tumor removal in a patient with anti-NMDAR encephalitis. This 21-year-old woman was admitted to another hospital with rapidly progressive psychiatric symptoms, a decreased level of consciousness, and seizures. Abdominal CT showed a pelvic mass. On day 1 of admission to our center, she developed hypoventilation requiring mechanical support. She had orofacial dyskinesias with well-coordinated, pseudo-piano playing involuntary finger movements. Based on these clinical features, she was immediately scheduled for tumor resection on day 3. While awaiting surgery, she began to receive high-dose intravenous methylprednisolone. After tumor removal, she received plasma exchange, followed by intravenous immunoglobulin and additional high-dose methylprednisolone. Two weeks after tumor removal, she started following simple commands and progressive improvement, although she remained on mechanical ventilation for 10 weeks due to nocturnal central hypoventilation. Anti-NMDAR antibodies in serum/CSF were detected. Pathological examination showed immature teratoma with foci of infiltrates of B- and T-cells. Early tumor resection with immunotherapy facilitates recovery from this disease, but central hypoventilation may require long mechanical support. Non-jerky elaborate finger movements suggest antibody-mediated disinhibition of the cortico-striatal systems. PMID:21422691

  19. A not very essential obesity: the Rohhad Syndrome. Description of two cases and review of the literature

    Directory of Open Access Journals (Sweden)

    V. Ramistella

    2013-08-01

    Full Text Available Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD is a rare and complex pediatric disorder . Children typically show ROHHAD after the first years of life with rapid weight gain and subsequently autonomic nervous system dysregulation (altered pain perception, pupillary dysfunction, hypothermia and bradycardia; alveolar hypoventilation with risk of cardiorespiratory arrest and hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, growth hormone and corticotrophin deficiency. Tumours of neural crest origin, such as ganglioneuroblastoma and ganglioneuronoma, are reported in 33% of the patients and may be found in the chest or abdomen. Here we describe two girls who presented with rapid weight gain, at the age of 5 and 9 years respectively. The first was admitted due to obesity and central hypothyroidism. After two months she rapidly developed a clinical picture characterized by thermal dysregulation, hypodipsia and severe hypernatriemia, hypertrigliceridemia, alveolar hypoventilation supported by mechanical ventilation. The second presented with rapid-onset obesity and a mild hyperprolactinemia. After three months of follow- up she was admitted due to a clinical picture of hypothermia, seizures and hyponatremia. Subsequentely she developed altered water balance (severe hypernatremia and severe hypoventilation . Chest CT and MR imaging showed a posterior mediastinal mass. Endocrinological investigation showed corticotrophin deficiency and central hypothyroidism treated with specific replacement therapies. Conclusions: On the basis of our experiences we can infer that it is necessary perform specific further investigations of hypothalamic function in all the children with rapid onset obesity in order to early prevent the catastrophic consequences that may occur in this syndrome.

  20. Disease: H00916 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00916 Congenital central hypoventilation syndrome (CCHS) Congenital central hypoventilation...zumi T, Kusuda S, Ogawa Y, Tuchiya K, Yamamoto W, Nakamura T, Hayasaka K Molecular analysis of congenital central hypoventilation...oradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation

  1. Risk factors for sexual dysfunction in male patients with obstructive sleep apnea and hypoventilation syndrome%阻塞性睡眠呼吸暂停低通气综合征引起男性性功能障碍危险因素分析

    Institute of Scientific and Technical Information of China (English)

    刘松; 陈颖; 郝钢跃; 贺正一

    2013-01-01

    目的 探讨男性阻塞性睡眠呼吸暂停低通气综合征(OSAHS)患者性功能障碍的危险因素.方法 采用国际勃起功能指数量表(IIEF-5)评估121例男性22~50岁OSAHS患者性功能,分为性功能正常组(65例)和性功能障碍组(56例).比较两组患者临床资料和多导睡眠图监测结果.部分性功能障碍患者进行持续气道正压(CPAP)治疗后再次以IIEF-5评价性功能.结果 性功能障碍组患者体质量指数(BMI)显著高于性功能正常组[(31.5±3.9) kg/m2与(30.1±3.5) kg/m2,t=6.897,P<0.01],有糖尿病病史者显著多于性功能正常组(18例与10例,x2=4.750,P<0.05),晨间血压升高者显著多于性功能正常组(38例与27例,x2 =8.381,P<0.01);性功能障碍组患者多导睡眠图监测显示,呼吸紊乱指数(RDI)、最长呼吸暂停时间(Tmax)、最低脉搏血氧饱和度(LSp02)、脉搏血氧饱和度低于90%时间占总睡眠(TST)时间比(T90%)、浅睡眠(S1+S2)占ST比、深睡眠(S3+S4)占TST比、快动眼睡眠(REM)占TST比等指标与性功能正常组之间差异有统计学意义(t值分别为5.290、2.253、3.770、7.536、6.599、3.935和5.536,P均<0.05).多因素Logistic回归分析显示,糖尿病病史、多导睡眠图监测中S1 +S2占TST比、RDI和LSp02对男性OSAHS患者出现性功能障碍有统计学意义,其OR值(95%可信区间)分别为2.10(1.17 ~5.01)、3.52(1.33 ~ 5.97)、1.45(1.08 ~2.95)和0.86(0.67~0.93),P均<0.05.20例性功能障碍患者持续气道正压治疗2个月后14例经IIEF-5评分(>21分)正常.结论 具有糖尿病病史,睡眠结构紊乱S1 +S2占TST比增多、RDI较高和LSpO2较低是男性OSAHS患者发生性功能障碍的独立危险因素.持续气道正压治疗可以显著改善男性OSAHS患者性功能.%Objective To investigate the risk factors of sexual dysfunction in male patients with obstructive sleep apnea and hypoventilation syndrome (OSAHS).Methods One hundred and twenty-one OSAHS male

  2. Capnography for Assessing Nocturnal Hypoventilation and Predicting Compliance with Subsequent Noninvasive Ventilation in Patients with ALS

    OpenAIRE

    Sung-Min Kim; Kyung Seok Park; Hyunwoo Nam; Suk-Won Ahn; Suhyun Kim; Jung-Joon Sung; Kwang-Woo Lee

    2011-01-01

    BACKGROUND: Patients with amyotrophic lateral sclerosis (ALS) suffer from hypoventilation, which can easily worsen during sleep. This study evaluated the efficacy of capnography monitoring in patients with ALS for assessing nocturnal hypoventilation and predicting good compliance with subsequent noninvasive ventilation (NIV) treatment. METHODS: Nocturnal monitoring and brief wake screening by capnography/pulse oximetry, functional scores, and other respiratory signs were assessed in 26 patien...

  3. Acute traumatic central cord syndrome: MRI-pathological correlations

    International Nuclear Information System (INIS)

    The acute traumatic central cord syndrome (ATCCS) is commonly stated to result from an injury which affects primarily the center of the spinal cord and is frequently hemorrhagic. To test the validity of this widely disseminated hypothesis, the magnetic resonance images [MRI] of 11 consecutive cases of ATCCS caused by closed injury to the spine were analyzed and correlated with the gross pathological and histological features of 3 cervical spinal cords obtained at post mortem from patients with ATCCS, including 2 of patients studied by MRI. In this study, the MRI and pathological observations indicate that ATCCS is predominantly a white matter injury and that intramedullary hemorrhage is not a necessary feature of the syndrome; indeed, it is probably an uncommon event in ATCCS. We suggest that the most common mechanism of injury in ATCCS may be direct compression of the cervical spinal cord by buckling of the ligamenta flava into an already narrowed cervical spinal canal; this would explain the predominance of axonal injury in the white matter of the lateral columns. (orig./GDG)

  4. Central poststroke pain: somatosensory abnormalities and the presence of associated myofascial pain syndrome

    OpenAIRE

    de Oliveira Rogério Adas; de Andrade Daniel; Machado André Guelman; Teixeira Manoel

    2012-01-01

    Abstract Background Central post-stroke pain (CPSP) is a neuropathic pain syndrome associated with somatosensory abnormalities due to central nervous system lesion following a cerebrovascular insult. Post-stroke pain (PSP) refers to a broader range of clinical conditions leading to pain after stroke, but not restricted to CPSP, including other types of pain such as myofascial pain syndrome (MPS), painful shoulder, lumbar and dorsal pain, complex regional pain syndrome, and spasticity-related ...

  5. The dystrophic hamster: an animal model of alveolar hypoventilation.

    Science.gov (United States)

    Schlenker, E H; Burbach, J A

    1991-11-01

    The BIO 14.6 dystrophic hamster (DH) is a genetically determined animal model of alveolar hypoventilation (AH) that exhibits a ventilatory control pattern of compensation and then decompensation similar to that in progressive forms of muscular dystrophy and nonprogressive congenital myopathies in humans. Possible causes of AH in the DH include respiratory muscle weakness, ventilation-to-perfusion inequalities, and an inadequate drive to breathe. Histochemical and contractile abnormalities of the diaphragm, reduced lung surface area available for gas exchange, abnormal pulmonary microvascular reactivity to hypoxia, altered levels of neurochemicals, and abnormal cellular regulation of calcium are among the specific factors that may contribute to the development of AH. The potential role of hypothyroidism in the development of AH is reviewed because many hypothyroid patients exhibit AH and other ventilatory dysfunctions, hypothyroidism is present in human patients and animals with muscular dystrophy, and thyroid status is known to influence lung architecture, myocyte function, and neural activity. Additional studies linking neurohormonal signals, transcellular signal processing, and control of ventilation in the DH may help us understand the etiology of AH in human disease. PMID:1684789

  6. Solitary median maxillary central incisor in association with Goldenhar's syndrome: a case report.

    Science.gov (United States)

    Garcia de Paula e Silva, Francisco Wanderley; de Carvalho, Fabricio Kitazono; Diaz-Serrano, Kranya Victória; de Freitas, Aldevina Campos; Borsatto, Maria Cristina; de Queiroz, Alexandra Mussolino

    2007-01-01

    Goldenhar's syndrome is a rare disorder characterized by several anomalies that include dermal epibulbar cysts, auricular appendices and malformations and vertebral anomalies. In this article, the authors report a case of Goldenhar's syndrome in a 10-year-old child who presented with the classical signs of this condition and a solitary median maxillary central incisor (SMMCI). PMID:17658185

  7. The Great Deceiver: A Case of Central Sensitization Presenting as Carcinoid Syndrome.

    Science.gov (United States)

    Ramos, Juan A

    2016-06-01

    Central sensitization defines a state of amplified sensory input within the nervous system across many organ systems; it overlaps syndromes as fibromyalgia, chronic fatigue, irritable bowel, and interstitial cystitis. Commonly, individuals will experience multiple syndromes during the course of their lifetime. A 62-year-old patient presented for evaluation of multiple medically unexplained symptoms postsurgically including chronic left chest wall and flank pain with concomitant diarrhea, abdominal pain, and facial flushing. After extensive multidisciplinary evaluations, he was diagnosed as having central sensitization in which the initial presentation mimicked carcinoid syndrome. He was subsequently treated with extensive multidisciplinary pain rehabilitation, and it did well. PMID:27144900

  8. Central nervous system involvement in primary Sjogren`s syndrome manifesting as multiple sclerosis.

    Science.gov (United States)

    Liu, Jing-Yao; Zhao, Teng; Zhou, Chun-Kui

    2014-04-01

    Central nervous system symptoms in patients with primary Sjogren`s syndrome are rare. They can present as extraglandular manifestations and require a differential diagnosis from multiple sclerosis. Due to a variety of presentations, Sjogren`s syndrome with neurologic involvement may be difficult to diagnose. Here, we report a case of a 75-year-old woman who was first diagnosed with multiple sclerosis in 2010, but who was subsequently diagnosed with primary Sjogren`s syndrome 2 years later after showing signs of atypical neurologic manifestations. Therefore, primary Sjogren`s syndrome should be suspected in patients who present with atypical clinical and radiologic neurologic manifestations.

  9. The Relationship between Obstructive Sleep Apnea Hypoventilation Syndrome and Components of Metabolic Syndrome%阻塞型睡眠呼吸暂停低通气综合征与代谢综合征组分关系探讨

    Institute of Scientific and Technical Information of China (English)

    史艳明; 陈晶; 张弛; 李华珠; 杨晓春; 周桂莲; 王敏; 吴文宇; 熊璞; 王霞

    2011-01-01

    目的:探讨阻塞型睡眠呼吸暂停低通气综合征(OSAHS)与代谢综合征(MS)组分关系.方法:对我院2003年1月至2010年7月39例诊断为OSAHS住院患者进行回顾性调查,30例同期住院病人为对照组,均记录年龄、性别,测量身高、体重、血压,检测空腹血糖、血脂,分析OSAHS患者合并MS组分情况.结果:1.OSAHS组与对照组比较,体重指数(BMI)、血压、血清甘油三酯、总胆固醇、低密度脂蛋白胆固醇、载脂蛋白A1升高,高密度脂蛋白胆固醇降低(P<0.05);2.OSAHS组与对照组相比较,无MS组分比例低于对照组,差异有统计学意义(P<0.05);3.OSAHS组与对照组相比较,OSAHS组合并MS组分,包括BMI≥ 25Kg/m2,血脂紊乱的比例,均高于对照组,差异有统计学意义(P<0.05).结论:OSAHS患者易合并代谢综合征组分.%Objective: To explore the relationship between obstructive sleep apnea hypopnea syndrome (OSAHS) and components of metabolic syndrome (MS). Methods: 39 cases of hospitalized patients diagnosed with OSAHS were studied retrospectively from January 2003 to July 2010. 30 cases of hospitalized patients at the same time with no OSAHS were collected as control group. Age, sex, body height, body weight, blood pressure, fasting blood glucose, lipid profile were recorded. Results: 1. The body mass index (BMI), blood pressure, serum triglyceride, total cholesterol, low-density lipoprotein cholesterol, apolipoprotein A1 were higher and low-density lipoprotein cholesterol were lower in patients with OSAHS than in controls (P<0.05). 2. The prevalence of those without any components of MS in OSAHS was lower than controls (PO.05). 3. The prevalence of those with combined components of MS, including BMIS 25kg/m2 and lipid disorders was higher in OSAHS group than in control group. (P<0.05). Conclusions: Patients wtith OSAHS were proned to develop components of MS.

  10. Capnography for assessing nocturnal hypoventilation and predicting compliance with subsequent noninvasive ventilation in patients with ALS.

    Directory of Open Access Journals (Sweden)

    Sung-Min Kim

    Full Text Available BACKGROUND: Patients with amyotrophic lateral sclerosis (ALS suffer from hypoventilation, which can easily worsen during sleep. This study evaluated the efficacy of capnography monitoring in patients with ALS for assessing nocturnal hypoventilation and predicting good compliance with subsequent noninvasive ventilation (NIV treatment. METHODS: Nocturnal monitoring and brief wake screening by capnography/pulse oximetry, functional scores, and other respiratory signs were assessed in 26 patients with ALS. Twenty-one of these patients were treated with NIV and had their treatment compliance evaluated. RESULTS: Nocturnal capnography values were reliable and strongly correlated with the patients' respiratory symptoms (R(2 = 0.211-0.305, p = 0.004-0.021. The duration of nocturnal hypercapnea obtained by capnography exhibited a significant predictive power for good compliance with subsequent NIV treatment, with an area-under-the-curve value of 0.846 (p = 0.018. In contrast, no significant predictive values for nocturnal pulse oximetry or functional scores for nocturnal hypoventilation were found. Brief waking supine capnography was also useful as a screening tool before routine nocturnal capnography monitoring. CONCLUSION: Capnography is an efficient tool for assessing nocturnal hypoventilation and predicting good compliance with subsequent NIV treatment of ALS patients, and may prove useful as an adjunctive tool for assessing the need for NIV treatment in these patients.

  11. Solitary median maxillary central incisor syndrome associated with unique cleft palate: a rare case report.

    Science.gov (United States)

    Holla, Goda; Ramakrishna, Yeluri; Holla, Anup; Munshi, Autar Krishen

    2014-01-01

    Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly that affects 1:50,000 live births. SMMCI syndrome is characterized by the presence of a single central incisor located on the maxillary midline in both primary and permanent dentitions. It may occur as an isolated finding or in association with developmental defects and systemic involvement. Congenital anomalies associated with SMMCI syndrome can include short stature, mild forms of deviation in craniofacial morphology, mild to severe intellectual disability, congenital heart disease, and cleft lip and/or palate. This report describes a clinical case of a 7-year-old girl with SMMCI syndrome--in addition to bilateral residual cleft and associated nasal regurgitation--that was treated with a removable maxillary obturator. PMID:24598504

  12. The Frequency of Exfoliation Syndrome in the Central Anatolia Region of Turkey

    Directory of Open Access Journals (Sweden)

    Raşit Kılıç

    2014-01-01

    Full Text Available Aim. The aim of this study was to investigate the frequency of exfoliation syndrome in the Central Anatolia region of Turkey and to evaluate its relationship with cardiovascular and ocular diseases. Methods. Patients over the age of 45 years who presented to the clinic were included in the study. All cases underwent a comprehensive ophthalmology examination. Exfoliation syndrome was diagnosed with the presence of exfoliative material on the lens anterior capsule or iris on slit lamp examination. The patients were divided into two groups as the exfoliation syndrome group and nonexfoliation syndrome group according to the presence of exfoliative material. Results. Exfoliative material was found in one or both eyes of 212 of the 2103 patients (10.1% evaluated within the scope of the study. A significant relationship was found between exfoliation syndrome and increasing age and male gender. A significant relationship was found between exfoliation syndrome and glaucoma, cataracts, age-related macular degeneration, and phacodonesis. While no relationship was found between exfoliation syndrome and hypertension or diabetes mellitus, a significant relationship was found with coronary artery disease. Conclusion. The unilateral or bilateral exfoliation syndrome frequency was 10.1% in this hospital-based study. A statistically significant relationship was found between exfoliation syndrome and advancing age, gender, and coronary artery disease.

  13. Myelodysplastic syndrome complicated by central diabetes insipidus and cerebral salt wasting syndrome with peculiar change in magnetic resonance images.

    Science.gov (United States)

    Sano, Soichi; Yamagami, Keiko; Morikawa, Takashi; Yoshioka, Katsunobu

    2010-01-01

    Central diabetes insipidus (CDI) could occurs in patients with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML), because of infiltration of leukemic cells into the neurohypophysis or some other reason and it is closely associated with abnormalities of chromosome 7. We report a case of MDS with abnormalities of chromosome 7, presenting as CDI followed by deterioration of polyuria and hyponatremia with a decreased extracellular fluid volume. Magnetic resonance imaging (MRI) revealed symmetrically enhanced lesions in the hypothalamus. Fludrocortisone treatment normalized his serum sodium level and cerebral salt wasting syndrome (CSWS) was suspected.

  14. Outcome after incomplete spinal cord injury: central cord versus Brown-Sequard syndrome

    OpenAIRE

    Wirz, M.; Zörner, B; Rupp, R; Dietz, V.

    2010-01-01

    Study design : A retrospective analysis of prospectively collected data.Objective:A hemisection of the spinal cord is a frequently used animal model for spinal cord injury (SCI), the corresponding human condition, that is, the Brown-Sequard syndrome (BS), is relatively rare as compared with the central cord syndrome (CC). The time course of neurological deficit, functional recovery, impulse conductivity and rehabilitation length of stay in BS and CC subjects were compared.Setting:Nine Europea...

  15. Isolated Richter's syndrome in central nervous system: case report Sindrome de Richter isolada em sistema nervoso central: relato de caso

    Directory of Open Access Journals (Sweden)

    Lucilene S.R. Resende

    2005-06-01

    Full Text Available Diffuse large cell non Hodgkin's lymphoma associated with chronic lymphoid leukemia (CLL, or Richter's syndrome, is a rare and serious complication. Isolated Richter's syndrome in the central nervous system is very rare; only 12 cases have been reported. We describe a 74-year-old patient with diffuse large cell non Hodgkin's lymphoma in the right frontal region with the appearance of multiform glioblastoma.Linfoma não Hodgkin difuso de grandes células em paciente portador de leucemia linfóide crônica (LLC, ou síndrome de Richter, é complicação rara e grave nesta leucemia. Síndrome de Richter isolada no sistema nervoso central é muito rara, tendo sido encontrados apenas 12 casos descritos. Descrevemos paciente de 74 anos, que apresentou linfoma não Hodgkin difuso de grandes células em região frontal direita, simulando glioblastoma multiforme.

  16. Central Sensitization in Functional Chronic Pain Syndromes: Overview and Clinical Application.

    Science.gov (United States)

    Bettini, Liz; Moore, Ki

    2016-10-01

    The purpose of this review and clinical application article is to offer nurses up-to-date knowledge on peripheral and central sensitization in chronic functional pain syndromes, and to discuss therapies that have shown efficacy in treating various aspects of these disorders. Central sensitization is a result of changes in the peripheral and central nervous system due to noxious stimuli, such as illness or trauma. Once these changes occur, treatment for the associated syndromes requires a multimodal approach that includes behavioral pain psychology, physical therapy, and pharmacological agents that specifically target neuroinflammation, pain modulation, and amplification of pain pathways. More research needs to be conducted on the basis and patient perception of functional pain syndromes to reduce the morbidity and significant disability associated with these illnesses. Nurses have the opportunity to be at the forefront of this research because of their holistic and multidimensional approach to patient care, assessment, and symptom management. PMID:27553129

  17. Non-stroke Central Neurologic Manifestations in Antiphospholipid Syndrome.

    Science.gov (United States)

    Yelnik, Cécile M; Kozora, Elizabeth; Appenzeller, Simone

    2016-02-01

    Thrombotic manifestations of antiphospholipid syndrome (APS) are well known, and various non-stroke neuro-psychiatric manifestations (NPMs) have also been consistently described, but their place in APS remains unclear. Some syndromes, such as migraine or cognitive dysfunction, are frequently described in APS, whereas others, like seizure, multiple sclerosis-like symptoms, transverse myelitis, movement disorders, or psychiatric symptoms, are rarely found. Overlap with other autoimmune diseases, in particular with systemic lupus erythematosus, the lack of large sample size prospective studies, and discrepancies in antiphospholipid antibody (aPL) determinations complicate the study of the relationship between those disorders and aPL/APS. This review article aimed to summarize updated data on pathophysiologic, epidemiologic, and radiologic findings about non-stroke NPM described in primary APS and aPL-positive patients without overlap of other autoimmune diseases. PMID:26923254

  18. Combined central diabetes insipidus and cerebral salt wasting syndrome in children.

    Science.gov (United States)

    Lin, Jainn-Jim; Lin, Kuang-Lin; Hsia, Shao-Hsuan; Wu, Chang-Teng; Wang, Huei-Shyong

    2009-02-01

    Central diabetes insipidus, a common consequence of acute central nervous system injury, causes hypernatremia; cerebral salt wasting syndrome can cause hyponatremia. The two conditions occurring simultaneous are rarely described in pediatric patients. Pediatric cases of combined diabetes insipidus and cerebral salt wasting after acute central nervous system injury between January 2000 and December 2007 were retrospectively reviewed, and clinical characteristics were systemically assessed. Sixteen patients, aged 3 months to 18 years, met study criteria: 11 girls and 5 boys. The most common etiologies were severe central nervous system infection (n = 7, 44%) and hypoxic-ischemic event (n = 4, 25%). In 15 patients, diabetes insipidus was diagnosed during the first 3 days after acute central nervous system injury. Onset of cerebral salt wasting syndrome occurred 2-8 days after the onset of diabetes insipidus. In terms of outcome, 13 patients died (81%) and 3 survived under vegetative status (19%). Central diabetes insipidus and cerebral salt wasting syndrome may occur after acute central nervous system injury. A combination of both may impede accurate diagnosis. Proper differential diagnoses are critical, because the treatment strategy for each entity is different.

  19. Central obesity measurements predict metabolic syndrome in a retrospective cohort study of postmenopausal women

    Directory of Open Access Journals (Sweden)

    Manuel Rosety-Rodríguez

    2013-12-01

    Full Text Available Introduction: The various diagnostic classifications in the literature concur as regards the important role of abdominal obesity in the onset and progression of metabolic syndrome. Accordingly, this study was aimed at clarifying whether central obesity measurements assessed by dual X-ray absorptiometry (DXA may predict metabolic syndrome in Spanish postmenopausal women. Material and methods: This historical cohort study included a total of 1326 postmenopausal women aged > 45 years old who had routinely undergone DXA to measure their bone mineral density between january 2006 and january 2011. The regions of interest (ROI envisaged in our study by using DXA were the lumbar regions L1-L4 and L4-L5. At the same time, they underwent a complete medical examination including personal medical history assessment, biochemical blood analysis, blood pressure measurement and anthropometrical evaluation. Metabolic syndrome was diagnosed attending to the criteria established by National Cholesterol Education Program Adult Treatment Panel III (NECP-ATP-III. Results: During the observation period, 537 women, representing 40.5% of the total studied, met the diagnostic criteria for metabolic syndrome. L1-L4 and L4-L5 abdominal fat mass determinations were associated with the development of metabolic syndrome in all regression models tested, showing an increasing gradient from the lowest to highest quintile. Conclusion: Central adiposity measurements assessed by DXA, especially L1-L4 region of interest, could be considered a powerful predictor of metabolic syndrome in postmenopausal women.

  20. Catheter-directed Thrombolysis in Acute Superior Vena Cava Syndrome Caused by Central Venous Catheters.

    Science.gov (United States)

    Cui, Jie; Kawai, Tasuo; Irani, Zubin

    2015-01-01

    Indwelling central venous catheters have been reported to increase the risk of superior venous cava (SVC) syndrome. This case report describes the development of acute SVC syndrome in a 28-year-old woman with end-stage renal disease implanted with a left-side hemodialysis reliable outflow graft and a right-side double lumen hemodialysis catheter via internal jugular veins. Her symptoms were not alleviated after catheter removal and systemic anticoagulation therapy. She was eventually treated with catheter-directed thrombolysis and a predischarge computer tomographic venogram on postthrombolytic procedure day 7 showed patent central veins and patient remained asymptomatic. This case demonstrates that catheter-directed thrombolysis can be safely employed to treat refractory catheter-induced acute SVC syndrome in end-stage renal disease patients.

  1. Effects of acute hypoventilation and hyperventilation on exhaled carbon monoxide measurement in healthy volunteers

    Directory of Open Access Journals (Sweden)

    Di Donato Michele

    2009-12-01

    Full Text Available Abstract Background High levels of exhaled carbon monoxide (eCO are a marker of airway or lung inflammation. We investigated whether hypo- or hyperventilation can affect measured values. Methods Ten healthy volunteers were trained to achieve sustained end-tidal CO2 (etCO2 concentrations of 30 (hyperventilation, 40 (normoventilation, and 50 mmHg (hypoventilation. As soon as target etCO2 values were achieved for 120 sec, exhaled breath was analyzed for eCO with a photoacoustic spectrometer. At etCO2 values of 30 and 40 mmHg exhaled breath was sampled both after a deep inspiration and after a normal one. All measurements were performed in two different environmental conditions: A ambient CO concentration = 0.8 ppm and B ambient CO concentration = 1.7 ppm. Results During normoventilation, eCO mean (standard deviation was 11.5 (0.8 ppm; it decreased to 10.3 (0.8 ppm during hyperventilation (p 2 changes (hyperventilation: 10% Vs 25% decrease; hypoventilation 3% Vs 25% increase. Taking a deep inspiration before breath sampling was associated with lower eCO values (p Conclusions eCO measurements should not be performed during marked acute hyperventilation, like that induced in this study, but the influence of less pronounced hyperventilation or of hypoventilation is probably negligible in clinical practice

  2. Cerebral salt wasting syndrome in children with acute central nervous system injury.

    Science.gov (United States)

    Jiménez, Raquel; Casado-Flores, Juan; Nieto, Monserrat; García-Teresa, María Angeles

    2006-10-01

    The purpose of this investigation was to describe the causes, clinical pattern, and treatment of cerebral salt wasting syndrome in children with acute central nervous system injury. This retrospective study focused on patientscerebral salt wasting syndrome, over a period of 7 years, in the pediatric intensive care unit of a tertiary care hospital. Selection criteria included evidence of hyponatremia (serum sodium120 mEq/L), and volume depletion. Fourteen patients were identified with cerebral salt wasting syndrome, 12 after a neurosurgical procedure (8 brain tumor, 4 hydrocephalus) and 2 after severe brain trauma. In 11 patients the cerebral salt wasting syndrome was diagnosed during the first 48 hours of admission. Prevalence of cerebral salt wasting syndrome in neurosurgical children was 11.3/1000 surgical procedures. The minimum sodium was 122+/-7 mEq/L, the maximum urine osmolarity 644+/-59 mOsm/kgH2O. The maximum sodium supply was 1 mEq/kg/h (range, 0.1-2.4). The mean duration of cerebral salt wasting syndrome was 6+/-5 days (range 1-9). In conclusion, cerebral salt wasting syndrome can complicate the postoperative course of children with brain injury; it is frequently present after surgery for brain tumors and hydrocephalus and in patients with severe head trauma. Close monitoring of salt and fluid balance is essential to prevent severe neurologic and hemodynamic complications.

  3. Variation of serum interleukin-6 and C-reactive protein levels in obstructive sleep apnea hypoventilation syndrome with or without accompanying CAD%血清白细胞介素-6 C反应蛋白在阻塞性睡眠呼吸暂停通气综合征及其合并冠心病患者体内的水平变化

    Institute of Scientific and Technical Information of China (English)

    张敏艳; 刘卓拉; 张秀兰

    2011-01-01

    目的 通过检测阻塞性睡眠呼吸暂停低通气综合征(OSAHS)及OSAHS合并冠心病(CAD)患者血清白细胞介素-6(IL-6)及C反应蛋白(CRP)水平的变化,研究两者与OSAHS及OSAHS合并CAD的相关性,旨在探讨OSAHS合并冠心病的发病机制.方法 随机选择经多导睡眠图(PSG)监测确诊的OSAHS患者60例,其中单纯OSAHS患者40例,OSAHS合并CAD患者20例.另选择我院同期健康体检者30名.于睡眠呼吸监测次日晨起采取空腹肘静脉血3 ml,采用放射免疫法测定IL-6,酶联免疫吸附试验测定CRP,并记录睡眠呼吸监测相关指标,对其结果进行分析.结果 单纯OSAHS组、OSAHS合并CAD组与健康对照组相比血清IL-6、CRP浓度均升高,差异有统计学意义(P<0.01).OSAHS合并CAD组血清IL-6、CRP浓度均高于单纯OSAHS组,差异有统计学意义(P<0.01).OSAHS合并CAD组与单纯OSAHS组相比,睡眠呼吸暂停低通气指数(AHI)升高,差异有统计学意义(P<0.01);最低血氧饱和度(SaO2)及平均SaO2均降低,差异有统计学意义(P<0.01);但最长呼吸暂停时间及最长低通气时间差异均无统计学意义(P>0.05).单纯OSAHS组与OSAHS合并CAD组2组患者血清IL-6和CRP均呈正相关(r分别为0.941与0.922,P<0.01).不论单纯OSAHS组还是OSAHS合并CAD组,血清IL-6、CRP水平均与AHI呈正相关,与最低SaO2呈负相关,而与最长呼吸暂停时间及最长低通气时间无相关性.结论 OSAHS可能存在着一个慢性炎症过程,它在OSAHS合并CAD的发生发展中起着重要作用.%Objective To detect the variation of serum interleukin-6 (IL-6) and C-reactive protein (CRP) levels in patients with obstructive sleep apnea hypoventilation syndrome (OSAHS) and in those with accompanying coronary artery disease (CAD) (OSAHS+CAD), and to study the correlation between the two biomarkers, OSAHS and OSAHS+CAD, in order to explore the pathogenesis of OSAHS+CAD. Methods Sixty patients confirmed with OSAHS by polysomnography

  4. The primary Maxillary Central Incisor in the Solitary Median Maxillary Central Incisor syndrome

    DEFF Research Database (Denmark)

    Kjaer, I; Balslev-Olesen, M

    2012-01-01

    Solitary Median Maxillary Central Incisor (SMMCI) is a developmental anomaly in the permanent dentition with one single central incisor in the maxilla, positioned exactly in the midline. This condition has been associated with extra- and intraoral malformations in the frontonasal segment of the c...

  5. Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome.

    Science.gov (United States)

    Hall, R K; Bankier, A; Aldred, M J; Kan, K; Lucas, J O; Perks, A G

    1997-12-01

    This article describes a series of 21 consecutive cases, each involving a solitary median maxillary central incisor; the patients were seen in the Department of Dentistry or the Victorian Clinical Genetics Unit, Murdoch Institute, at the Royal Children's Hospital, Melbourne, from 1966 to 1997. The spectrum of anomalies and associated features present in these cases--solitary median maxillary central incisor, choanal atresia, and holoprosencephaly--is described, and the literature related to the features, including genetic studies in these conditions, is reviewed. We relate our findings in these cases to current knowledge of developmental embryology. It is hoped that the findings, together with our interpretation of them, will help to clarify understanding of solitary median maxillary central incisor syndrome. This syndrome was previously considered a simple midline defect of the dental lamina, but it is now recognized as a possible predictor of holoprosencephalies of varying degrees in the proband, in members of the proband's family, and in the family's descendants. PMID:9431535

  6. Central nervous system syndromes in solid organ transplant recipients.

    Science.gov (United States)

    Wright, Alissa J; Fishman, Jay A

    2014-10-01

    Solid organ transplant recipients have a high incidence of central nervous system (CNS) complications, including both focal and diffuse neurologic deficits. In the immunocompromised host, the initial clinical evaluation must focus on both life-threatening CNS infections and vascular or anatomic lesions. The clinical signs and symptoms of CNS processes are modified by the immunosuppression required to prevent graft rejection. In this population, these etiologies often coexist with drug toxicities and metabolic abnormalities that complicate the development of a specific approach to clinical management. This review assesses the multiple risk factors for CNS processes in solid organ transplant recipients and establishes a timeline to assist in the evaluation and management of these complex patients.

  7. Preschool Weight and Body Mass Index in Relation to Central Obesity and Metabolic Syndrome in Adulthood

    DEFF Research Database (Denmark)

    Graversen, Lise; Sørensen, Thorkild I A; Petersen, Liselotte;

    2014-01-01

    BACKGROUND: If preschool measures of body size routinely collected at preventive health examinations are associated with adult central obesity and metabolic syndrome, a focused use of these data for the identification of high risk children is possible. The aim of this study was to test...... the associations between preschool weight and body mass index (BMI) and adult BMI, central obesity and metabolic alterations. METHODS: The Northern Finland Birth Cohort 1966 (NFBC1966) (N = 4111) is a population-based cohort. Preschool weight (age 5 months and 1 year) and BMI (age 2-5 years) were studied...... of adult obesity of 6.2(95% CI:4.2-9.3), of adult central obesity of 2.4(95% CI:2.0-2.9), and of early onset adult metabolic syndrome of 2.5(95% CI:1.7-3.8). CONCLUSIONS: High preschool BMI is consistently associated with adult obesity, central obesity and early onset metabolic syndrome. Routinely...

  8. Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

    Science.gov (United States)

    Moore, S W

    2012-11-01

    Hirschsprung's disease (HSCR) is a fairly frequent cause of intestinal obstruction in children. It is characterized as a sex-linked heterogonous disorder with variable severity and incomplete penetrance giving rise to a variable pattern of inheritance. Although Hirschsprung's disease occurs as an isolated phenotype in at least 70% of cases, it is not infrequently associated with a number of congenital abnormalities and associated syndromes, demonstrating a spectrum of congenital anomalies. Certain of these syndromic phenotypes have been linked to distinct genetic sites, indicating underlying genetic associations of the disease and probable gene-gene interaction, in its pathogenesis. These associations with HSCR include Down's syndrome and other chromosomal anomalies, Waardenburg syndrome and other Dominant sensorineural deafness, the Congenital Central Hypoventilation and Mowat-Wilson and other brain-related syndromes, as well as the MEN2 and other tumour associations. A number of other autosomal recessive syndromes include the Shah-Waardenburg, the Bardet-Biedl and Cartilage-hair hypoplasia, Goldberg-Shprintzen syndromes and other syndromes related to cholesterol and fat metabolism among others. The genetics of Hirschsprung's disease are highly complex with the majority of known genetic sites relating to the main susceptibility pathways (RET an EDNRB). Non-syndromic non-familial, short-segment HSCR appears to represent a non-Mendelian condition with variable expression and sex-dependent penetrance. Syndromic and familial forms, on the other hand, have complex patterns of inheritance and being reported as autosomal dominant, recessive and polygenic patterns of inheritance. The phenotypic variability and incomplete penetrance observed in Hirschsprung's disease could also be explained by the involvement of modifier genes, especially in its syndromic forms. In this review, we look at the chromosomal and Mendelian associations and their underlying signalling pathways

  9. DiGeorge syndrome associated with solitary median maxillary central incisor.

    Science.gov (United States)

    Yang, Huai-Chih; Shyur, Shyh-Dar; Huang, Li-Hsin; Chang, Yi-Chi; Wen, Da-Chin; Liang, Pei-Hsuan; Lin, Mao-Tsair

    2005-01-01

    DiGeorge syndrome is a primary immunodeficiency disease characterized by dysgenesis of the thymus and parathyroid glands, conotruncal cardiac anomalies, and other dysmorphic features. Although most patients have a common microscopic deletion in chromosome 22q11.2, marked clinical variability exists. A solitary median maxillary central incisor (SMMCI) is a rare dental anomaly which may be an isolated occurrence or associated with congenital nasal airway abnormalities or holoprosencephaly. We report a patient with DiGeorge syndrome who was diagnosed at nearly 1 month of age and was later found to have a solitary median central incisor. Initially, the patient presented with recurrent episodes of respiratory distress attributed to partial airway obstruction, one of the phenotypic features of SMMCI. A fluorescence in situ hybridization study showed a chromosome 22q11.2 deletion. PMID:16252847

  10. Ramsay Hunt Syndrome Associated with Central Nervous System Involvement in an Adult.

    Science.gov (United States)

    Chan, Tommy L H; Cartagena, Ana M; Bombassaro, Anne Marie; Hosseini-Moghaddam, Seyed M

    2016-01-01

    Ramsay Hunt syndrome associated with varicella zoster virus reactivation affecting the central nervous system is rare. We describe a 55-year-old diabetic female who presented with gait ataxia, right peripheral facial palsy, and painful vesicular lesions involving her right ear. Later, she developed dysmetria, fluctuating diplopia, and dysarthria. Varicella zoster virus was detected in the cerebrospinal fluid by polymerase chain reaction. She was diagnosed with Ramsay Hunt syndrome associated with spread to the central nervous system. Her facial palsy completely resolved within 48 hours of treatment with intravenous acyclovir 10 mg/kg every 8 hours. However, cerebellar symptoms did not improve until a tapering course of steroid therapy was initiated. PMID:27366189

  11. Two uncommon manifestations of leptospirosis:Sweet’s syndrome and central nervous system vasculitis

    Institute of Scientific and Technical Information of China (English)

    Peter George

    2011-01-01

    To leptospirosis is the commonest spirocheatal infection in the tropical and temperate countries of Indian sub-continent and Africa and the most common zoonosis worldwide. The protean manifestation of this infectious disease is a challenge for practising clinicians across the world. In poor developing countries, at most clinical suspicion it is essential in the diagnosis of this disease. In this report, we are able to document two uncommon manifestations of leptospirosis, namely Sweet’s syndrome and central nervous system vasculitis.

  12. MAGNETIC RESONANCE IMAGING OF ACUTE CENTRAL CORD SYNDROME: CORRELATION WITH PROGNOSIS

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Objective. To report the magnetic resonance imaging (MRI) findings of acute cervical central cord syndrome and to determine their correlation with the prognosis. Methods. MRI findings of 35 patients with acute central cord syndrome were studied and compared with the recovery rate of ASIA score at presentation and in follow-up. Results. MRI data demonstrated spinal cord compression for 32 patients, spinal cord swelling for 16 patients, and abnormal signal intensity within the spinal cord for 19 patients, including 14 with edema and 3 with hematoma. No significant difference of the recovery rate was noted between the patients treated nonoperatively and operatively (P >0.05). There was a significant inverse correlation between the recovery rate and the degree of spinal cord compression as shown in MRI scans (P<0.01). The presence of hematoma in MRI scans was associated with poor prognosis, as demonstrated by a significant difference of the recovery rate (P< 0.01) among the patients with normal intensity, edema and hematoma within the spinal cord. Conclusions. MRI scans provide an efficient assistance for decision-making and accurate prognostic information regarding neurological function, and therefore should routinely be performed within the early phase of acute central cord syndrome.

  13. Diagnostic reliability of magnetic resonance imaging for central nervous system syndromes in systemic lupus erythematosus: a prospective cohort study

    OpenAIRE

    Nishimura Katsuji; Kanno Tokiko; Soejima Makoto; Fukasawa Chikako; Kawaguchi Yasushi; Harigai Masayoshi; Katsumata Yasuhiro; Yamada Takayuki; Yamanaka Hisashi; Hara Masako

    2010-01-01

    Abstract Background Previous studies of magnetic resonance imaging (MRI) as a diagnostic tool for central nervous system (CNS) syndromes in systemic lupus erythematosus (SLE) contained several limitations such as study design, number of enrolled patients, and definition of CNS syndromes. We overcame these problems and statistically evaluated the diagnostic values of abnormal MRI signals and their chronological changes in CNS syndromes of SLE. Methods We prospectively studied 191 patients with...

  14. A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia.

    Science.gov (United States)

    Blackmore, Kate; Wynne, David M

    2010-08-01

    Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities. It may present with life threatening respiratory distress in the neonate secondary to nasal malformations. These include pyriform aperture stenosis and choanal atresia. We present the first reported case of simultaneous choanal atresia and pyriform aperture stenosis in a neonate with solitary median maxillary central incisor syndrome. The clinical presentation and the management of congenital pyriform aperture stenosis are discussed. PMID:20627328

  15. Editorial review: an update on central sensitivity syndromes and the issues of nosology and psychobiology.

    Science.gov (United States)

    Yunus, Muhammad B

    2015-01-01

    Central sensitization (CS), simply defined as an amplified response of the central nervous system to peripheral input, is a concept of great importance in clinical medicine. It has helped to explain aspects of the pathophysiology of common diseases, e.g. fibromyalgia syndrome (FMS), irritable bowel syndrome, vulvodynia, headaches, chronic pelvic pain and other overlapping conditions (collectively called central sensitivity syndromes, or CSS). It also applies to pain of complex regional pain syndrome, osteoarthritis (OA), rheumatoid arthritis (RA) and post-operative pain. The pathology-pain gap in CSS is readily explained by CS. Many FMS and other CSS patients have peripheral pathology, e.g. nociceptive areas in the muscles, arthritis, small fiber neuropathy and inflammation. Pro-inflammatory cytokines are elevated in some patients. Identification of CS in patients with structural pathology, e.g. OA and RA, has helped to explain why not all patients benefit from nonsteroidal anti-inflammatory drugs or joint replacement surgery, and require therapy directed at CS. Glial cells are important in pain processing. Remarkable advances have been achieved in neuroimaging, including visualization of grey matter and white matter, not only during provoked pain but also pain at rest. Based on CS mechanisms, targeted individual therapy may now be possible. Appropriate nosology is important particularly for effective patient care. Dichotomy of neurochemical-structural ("functional") and structural ("organic") pathology should be abandoned; many patients have both. Psychobiology is also biology. Patient-blaming terms like somatization, somatizer and catastrophizing should be avoided. For therapy, both pharmacological and non- pharmacological approaches are important, including recognition of subgroups and person/patient-centered care.

  16. Central Diabetes Insipidus and Cisplatin-Induced Renal Salt Wasting Syndrome: A Challenging Combination.

    Science.gov (United States)

    Cortina, Gerard; Hansford, Jordan R; Duke, Trevor

    2016-05-01

    We describe a 2-year-old female with a suprasellar primitive neuroectodermal tumor and central diabetes insipidus (DI) who developed polyuria with natriuresis and subsequent hyponatremia 36 hr after cisplatin administration. The marked urinary losses of sodium in combination with a negative sodium balance led to the diagnosis of cisplatin-induced renal salt wasting syndrome (RSWS). The subsequent clinical management is very challenging. Four weeks later she was discharged from ICU without neurological sequela. The combination of cisplatin-induced RSWS with DI can be confusing and needs careful clinical assessment as inaccurate diagnosis and management can result in increased neurological injury.

  17. Reduction of central neuropathic pain with ketamine infusion in a patient with Ehlers–Danlos syndrome: a case report

    Science.gov (United States)

    Lo, Tony Chung Tung; Yeung, Stephen Tung; Lee, Sujin; Skavinski, Kira; Liao, Solomon

    2016-01-01

    Objective Ehlers–Danlos syndrome frequently causes acute and chronic pain because of joint subluxations and dislocations secondary to hypermobility. Current treatments for pain related to Ehlers–Danlos syndrome and central pain syndrome are inadequate. This case report discusses the therapeutic use of ketamine intravenous infusion as an alternative. Case report A 27-year-old Caucasian female with a history of Ehlers–Danlos syndrome and spinal cord ischemic myelopathy resulting in central pain syndrome, presented with severe generalized body pain refractory to multiple pharmacological interventions. After a 7-day course of ketamine intravenous infusion under controlled generalized sedation in the intensive care unit, the patient reported a dramatic reduction in pain levels from 7–8 out of 10 to 0–3 out of 10 on a numeric rating scale and had a significant functional improvement. The patient tolerated a reduction in her pain medication regimen, which originally included opioids, gabapentin, pregabalin, tricyclic antidepressants, and nonsteroidal anti-inflammatory drugs. Conclusion Ketamine infusion treatment has been used in various pain syndromes, including central neuropathic pain, ischemic pain, and regional pain syndrome. Reports have suggested that ketamine modulates pain by the regression of N-methyl-D-aspartate receptor to a resting state. As such, propagation of nociceptive signal to brain is interrupted allowing for the restoration of physiological balance between pain inhibition and facilitation. The present report shows that this treatment option can be used in patients with refractory central pain syndrome in the setting of spinal cord myelopathy secondary to Ehlers–Danlos syndrome. In addition, as seen in this case, this protocol can potentially decrease the chronic use of pain medication, such as opioids.

  18. Clinical course, management and in-hospital outcomes of acute coronary syndrome in Central Asian women

    Directory of Open Access Journals (Sweden)

    Ravshanbek Kurbanov

    2011-03-01

    Full Text Available The paper describes features history, risk factors and hospital management of acute coronary syndrome (ACS in women of the Central Asia (829 ACS patients are included, and also comparison of hospital outcomes of ACS in groups of men and women.ACS in women in the Central Asia comprises features as more non Q-wave myocardial infarction frequency, smaller adherence to treatment of dyslipidemia, more obesity degrees. Women arrive to hospital average in 4 hours after men; have more percent of the atypical form. In-hospital outcomes in men and women significantly did not differ because of general tendency to late arriving to the hospital and small quantity of revascularization procedures. The reasons of differences between men and women in the region are mostly connected to social sphere (late arriving, non-treated dyslipidemia than to physiological peculiarities.

  19. Central poststroke pain: somatosensory abnormalities and the presence of associated myofascial pain syndrome

    Directory of Open Access Journals (Sweden)

    de Oliveira Rogério Adas

    2012-09-01

    Full Text Available Abstract Background Central post-stroke pain (CPSP is a neuropathic pain syndrome associated with somatosensory abnormalities due to central nervous system lesion following a cerebrovascular insult. Post-stroke pain (PSP refers to a broader range of clinical conditions leading to pain after stroke, but not restricted to CPSP, including other types of pain such as myofascial pain syndrome (MPS, painful shoulder, lumbar and dorsal pain, complex regional pain syndrome, and spasticity-related pain. Despite its recognition as part of the general PSP diagnostic possibilities, the prevalence of MPS has never been characterized in patients with CPSP patients. We performed a cross-sectional standardized clinical and radiological evaluation of patients with definite CPSP in order to assess the presence of other non-neuropathic pain syndromes, and in particular, the role of myofascial pain syndrome in these patients. Methods CPSP patients underwent a standardized sensory and motor neurological evaluation, and were classified according to stroke mechanism, neurological deficits, presence and profile of MPS. The Visual Analogic Scale (VAS, McGill Pain Questionnaire (MPQ, and Beck Depression Scale (BDS were filled out by all participants. Results Forty CPSP patients were included. Thirty-six (90.0% had one single ischemic stroke. Pain presented during the first three months after stroke in 75.0%. Median pain intensity was 10 (5 to 10. There was no difference in pain intensity among the different lesion site groups. Neuropathic pain was continuous-ongoing in 34 (85.0% patients and intermittent in the remainder. Burning was the most common descriptor (70%. Main aggravating factors were contact to cold (62.5%. Thermo-sensory abnormalities were universal. MPS was diagnosed in 27 (67.5% patients and was more common in the supratentorial extra-thalamic group (P Conclusions The presence of MPS is not an exception after stroke and may present in association with CPSP

  20. Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.

    Science.gov (United States)

    Nicita, Francesco; Garone, Giacomo; Papetti, Laura; Consoli, Federica; Magliozzi, Monia; De Luca, Alessandro; Spalice, Alberto

    2015-01-01

    Myoclonic status in nonprogressive encephalopathy (MSNE) is an early-onset, drug-resistant epileptic syndrome characterized by occurrence of continuous diffuse epileptiform abnormalities, associated with positive and/or negative phenomena and accompanied by transient and recurring motor, cognitive, and behavioral impairment. MSNE has been reported in Angelman syndrome (AS) secondary to 15q11-13 deletions or UBE3A mutations but not to paternal uniparental disomy (UPD). We describe the case of a male patient with AS caused by UPD who developed a myoclonic status (MS) associated with long-lasting fever of central origin, both promptly regressed with introduction of levetiracetam. Only three descriptions of thermal dysregulation in AS exist, and none of the previously reported cases were associated with MS or with UPD. Association of MS and central fever expands the spectrum of epileptic and non-epileptic features in UPD-related AS and provides a further evidence of hypothalamus involvement in the pathogenesis of this neurodevelopmental disorder. PMID:26559560

  1. Reduction of central neuropathic pain with ketamine infusion in a patient with Ehlers–Danlos syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Lo TC

    2016-09-01

    Full Text Available Tony Chung Tung Lo,1,* Stephen Tung Yeung,2,* Sujin Lee,1 Kira Skavinski,3 Solomon Liao,4 1Department of Physical Medicine and Rehabilitation, University of California Irvine, Orange, CA, 2Department of Immunology, University of Connecticut School of Medicine, Farmington, CT, 3Department of Palliative Medicine, University of California San Diego, La Jolla, 4Department of Palliative Medicine, University of California Irvine, Orange, CA, USA *These authors contributed equally to this work Objective: Ehlers–Danlos syndrome frequently causes acute and chronic pain because of joint subluxations and dislocations secondary to hypermobility. Current treatments for pain related to Ehlers–Danlos syndrome and central pain syndrome are inadequate. This case report discusses the therapeutic use of ketamine intravenous infusion as an alternative. Case report: A 27-year-old Caucasian female with a history of Ehlers–Danlos syndrome and spinal cord ischemic myelopathy resulting in central pain syndrome, presented with severe generalized body pain refractory to multiple pharmacological interventions. After a 7-day course of ketamine intravenous infusion under controlled generalized sedation in the intensive care unit, the patient reported a dramatic reduction in pain levels from 7–8 out of 10 to 0–3 out of 10 on a numeric rating scale and had a significant functional improvement. The patient tolerated a reduction in her pain medication regimen, which originally included opioids, gabapentin, pregabalin, tricyclic antidepressants, and nonsteroidal anti-inflammatory drugs. Conclusion: Ketamine infusion treatment has been used in various pain syndromes, including central neuropathic pain, ischemic pain, and regional pain syndrome. Reports have suggested that ketamine modulates pain by the regression of N-methyl-D-aspartate receptor to a resting state. As such, propagation of nociceptive signal to brain is interrupted allowing for the restoration of

  2. The trisomy 18 syndrome

    Directory of Open Access Journals (Sweden)

    Cereda Anna

    2012-10-01

    Full Text Available Abstract The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600 due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%. Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects . The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care. Upper airway

  3. Central leptin resistance and hypothalamic inflammation are involved in letrozole-induced polycystic ovary syndrome rats.

    Science.gov (United States)

    Lian, Yuling; Zhao, Fangui; Wang, Wenjun

    2016-08-01

    Accumulating evidence indicates that leptin acts as an important mediator in energy homeostasis and reproduction. Since dysfunction of reproduction and metabolism are major characteristics of polycystic ovarian syndrome (PCOS), the role of leptin in pathogenesis of PCOS needs further research. Many studies have shown that central leptin resistance existed in obesity rats through leptin intracerebroventricular (icv) injection; however, central leptin resistance in PCOS rats has not been reported. This study aimed to investigate whether there was a state of central leptin resistance in PCOS rats, as well as explore the possible association of hypothalamic inflammation with central leptin resistance. First, letrozole was used to induce the PCOS model, 24 h food intake, 24 h body weight changes and the expression of p-STAT3 were determined following leptin or artificial cerebrospinal fluid (aCSF) icv injection in rats. Second, we further evaluated the expressions of IL-1β, IL-6, TNF-α, p-IKKβ, NF-κB, p-NF-κB, IκBα, p-IκBα and SOCS3 in hypothalamus. The results showed that 24 h food intake and body weight were decreased, while the expression of p-STAT3 was increased in control group rats following leptin icv injection compared with aCSF icv injection; however, both of them showed no significant difference in PCOS rats. Furthermore, inflammatory markers were upregulated in the hypothalami of PCOS rats. Taken together, our data indicated that there was a state of chronic low-grade inflammation in hypothalamus which might be the possible mechanism for central leptin resistance in PCOS rats. PMID:27233601

  4. Lack of differential pattern in central adiposity and metabolic syndrome in Barrett's esophagus and gastroesophageal reflux disease.

    LENUS (Irish Health Repository)

    Healy, L A

    2012-02-01

    Obesity is an established risk factor for esophageal adenocarcinoma, although the mechanism is unclear. A pathway from reflux to inflammation through metaplasia is the dominant hypothesis, and an added role relating to visceral adiposity and the metabolic syndrome has been mooted in Barrett\\'s esophagus (BE) patients. Whether BE differs from gastroesophageal reflux disease (GERD) in obesity and metabolic syndrome profiles is unclear, and this was the focus of this study. Patients with proven BE or GERD were randomly selected from the unit data registry and invited to attend for metabolic syndrome screening, anthropometry studies including segmental body composition analysis, and laboratory tests including fasting lipids, insulin, and C-reactive protein. Metabolic syndrome was defined using the National Cholesterol Education Program (NCEP) and the International Diabetes Federation (IDF) criteria. One hundred and eighteen BE patients and 113 age- and sex-matched GERD controls were studied. The incidence of obesity (body mass index >30 kg\\/m(2)) was 36% and 38%, respectively, with the pattern of fat deposition predominantly central and an estimated trunk fat mass of 13 and 14 kg, respectively. Using the NCEP criteria, metabolic syndrome was significantly more common in the BE cohort (30% vs 20%, P < 0.05), but there was no significant difference using IDF criteria (42% vs 37%, P= 0.340). Central obesity and the metabolic syndrome are common in both Barrett\\'s and GERD cohorts, but not significantly different, suggesting that central obesity and the metabolic syndrome does not per se impact on the development of BE in a reflux population. In BE, the importance of obesity and the metabolic syndrome in disease progression merits further study.

  5. Diagnostic reliability of magnetic resonance imaging for central nervous system syndromes in systemic lupus erythematosus: a prospective cohort study

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    Nishimura Katsuji

    2010-01-01

    Full Text Available Abstract Background Previous studies of magnetic resonance imaging (MRI as a diagnostic tool for central nervous system (CNS syndromes in systemic lupus erythematosus (SLE contained several limitations such as study design, number of enrolled patients, and definition of CNS syndromes. We overcame these problems and statistically evaluated the diagnostic values of abnormal MRI signals and their chronological changes in CNS syndromes of SLE. Methods We prospectively studied 191 patients with SLE, comparing those with (n = 57 and without (n = 134 CNS syndrome. CNS syndromes were characterized using the American College of Rheumatology case definitions. Results Any abnormal MRI signals were more frequently observed in subjects in the CNS group (n = 25 than in the non-CNS group (n = 32 [relative risk (RR, 1.7; 95% confidence interval (CI, 1.1-2.7; p = 0.016] and the positive and negative predictive values for the diagnosis of CNS syndrome were 42% and 76%, respectively. Large abnormal MRI signals (ø ≥ 10 mm were seen only in the CNS group (n = 7; RR, 3.7; CI, 2.9-4.7; p = 0.0002, whereas small abnormal MRI signals (ø p = 0.029, whereas small signals did not (p = 1.000. Conclusions Abnormal MRI signals, which showed statistical associations with CNS syndrome, had insufficient diagnostic values. A large MRI signal was, however, useful as a diagnostic and surrogate marker for CNS syndrome of SLE, although it was less common.

  6. A Case of Turner Syndrome with Concomitant Transient Hypogammaglobulinaemia of Infancy and Central Diabetes Insipidus

    Science.gov (United States)

    Korkmaz, Hüseyin Anıl; Özkan, Behzat; Hazan, Filiz; Büyükinan, Muammer; Çelik, Tanju

    2013-01-01

    Turner syndrome (TS) is a genetic disorder that affects development in females and is characterized by the complete or partial absence of the second sex chromosome, or monosomy X. TS is associated with abnormalities in lymphatic and skeletal development, in growth, and in gonadal function. Cardiac and renal malformations and a number of specific cognitive findings may also be encountered in these patients. An increased risk for hypothyroidism, sensorineural hearing loss, hypertension, and other problems has also been reported. We present the case of a patient with TS accompanied by transient hypogammaglobulinaemia of infancy (THI) and central diabetes insipidus, which we believe is the first reported TS patient with these concomitant disorders. Conflict of interest:None declared. PMID:23419422

  7. Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues.

    Science.gov (United States)

    Bohlega, Saeed; Al-Ajlan, Huda; Al-Saif, Amr

    2014-05-01

    Fibulin-1 is an extracellular matrix protein that has an important role in the structure of elastic fibers and basement membranes of various tissues. Using homozygosity mapping and exome sequencing, we discovered a missense mutation, p.(Cys397Phe), in fibulin-1 in three patients from a consanguineous family presented with a novel syndrome of syndactyly, undescended testes, delayed motor milestones, mental retardation and signs of brain atrophy. The mutation discovered segregated with the phenotype and was not found in 374 population-matched alleles. The affected cysteine is highly conserved across vertebrates and its mutation is predicted to abolish a disulfide bond that defines the tertiary structure of fibulin-1. Our findings emphasize the crucial role fibulin-1 has in development of the central nervous system and various connective tissues.

  8. A Case of Central Pontine Myelinolysis Caused by Hypophosphatemia Secondary to Refeeding Syndrome.

    Science.gov (United States)

    Yamashita, Chikara; Shigeto, Hiroshi; Maeda, Norihisa; Torii, Takako; Ohyagi, Yasumasa; Kira, Jun-Ichi

    2015-01-01

    Central pontine myelinolysis (CPM), which was originally considered to be the result of rapid correction of chronic hyponatremia, is not necessarily accompanied by hyponatremia or drastic changes in serum sodium level. Here, we report a case of an anorexic 55-year-old male with a history of pharyngo-laryngo-esophagogastrectomy, initially hospitalized with status epilepticus. Although his consciousness gradually recovered as we were controlling his convulsion, it deteriorated again with new onset of anisocoria, and magnetic resonance imaging (MRI) at this point revealed CPM. Rapid change of serum sodium or osmolarity, which is often associated with CPM, had not been apparent throughout his hospitalization. Instead, a review of the serum biochemistry test results showed that serum phosphate had drastically declined the day before the MRI first detected CPM. In this case, we suspect that hypophosphatemia induced by refeeding syndrome greatly contributed to the occurrence of CPM.

  9. A Case of Central Pontine Myelinolysis Caused by Hypophosphatemia Secondary to Refeeding Syndrome

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    Chikara Yamashita

    2015-10-01

    Full Text Available Central pontine myelinolysis (CPM, which was originally considered to be the result of rapid correction of chronic hyponatremia, is not necessarily accompanied by hyponatremia or drastic changes in serum sodium level. Here, we report a case of an anorexic 55-year-old male with a history of pharyngo-laryngo-esophagogastrectomy, initially hospitalized with status epilepticus. Although his consciousness gradually recovered as we were controlling his convulsion, it deteriorated again with new onset of anisocoria, and magnetic resonance imaging (MRI at this point revealed CPM. Rapid change of serum sodium or osmolarity, which is often associated with CPM, had not been apparent throughout his hospitalization. Instead, a review of the serum biochemistry test results showed that serum phosphate had drastically declined the day before the MRI first detected CPM. In this case, we suspect that hypophosphatemia induced by refeeding syndrome greatly contributed to the occurrence of CPM.

  10. Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome.

    Science.gov (United States)

    Szakszon, Katalin; Felszeghy, Enikő; Csízy, István; Józsa, Tamás; Káposzta, Rita; Balogh, Erzsébet; Oláh, Eva; Balogh, István; Berényi, Ervin; Knegt, Alida C; Ilyés, István

    2012-02-01

    Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a rare malformation syndrome consisting of multiple, mainly midline defects. Some authors suggest that it is a mild manifestation of the wide spectrum of holoprosencephaly, others classify it rather as a distinct entity. Authors report a case of SMMCI presenting with growth retardation, mild intellectual disability and absence of puberty. Cytogenetic and molecular cytogenetic investigations could identify no abnormalities. The presence of a single maxillary incisor called for further investigations to clarify hidden anomalies, these were empty sella, panhypopituitarism, hypothyroidism, and hypoplasia of the inner genitals. Based on the above findings, growth hormone, estrogen, and L-thyroxine substitution was introduced, which resulted in satisfactory longitudinal growth and onset of sexual maturation. We suggest genetic counselling and if needed, invasive investigations in female patients with short stature and absent/delayed puberty, with or without sex chromosomal anomalies, as the adequate therapy and even the quality of life of patient depends largely on the knowledge of their anatomical and endocrine status. PMID:22138217

  11. Neurological involvement in primary Sjogren syndrome: a focus on central nervous system.

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    Manuela Morreale

    Full Text Available OBJECTIVES: Sjögren syndrome is an autoimmune disease involving mainly salivary and lacrimal glands. Beyond widely described PNS involvement, high variable prevalence of CNS manifestations ranging from 2.5 and 60% of all pSS patients has been reported, without specific syndrome definition. The aim of this cohort study was to evaluate the prevalence of CNS signs and symptoms in pSS patients and to identify possible biomarkers of CNS damage. METHODS: 120 patients with pSS diagnosis according to the 2002 American-European Consensus Group criteria were enrolled after exclusion of secondary causes. All patients underwent to a wide neurological, neuropsychological, psychiatric, neuroradiological and ultrasonographic evaluation. RESULTS: Central and peripheral nervous system involvement was observed in 81 patients with a prevalence of 67.5%. The prevalence of CNS involvement was significantly higher than PNS disease (p 0.001. 68 patients (84% shown non-focal CNS symptoms and 64 (79% focal CNS deficits with headache as the most common feature (46.9%, followed by cognitive (44.4% and mood disorders (38.3%. Particularly, we observed a high prevalence of migraine without aura, subcortical frontal executive functions and verbal memory impairment and apathy/alexythimia. MR spectroscopy revealed a reduction of NAA levels or NAA/Cr ratio decrease in subcortical frontal and basal ganglia white matter, while ultrasonography showed an impairment of microvasculature response. At multivariate analysis, headache, cognitive disorders and psychiatric symptoms was significantly associated to serological markers (anti-SSA, MRS and ultrasonographic features. CONCLUSIONS: The higher prevalence of MWO-mimic headache, cognitive dys-executive syndrome and mood disorders observed in this series confirmed previous evidences of a higher diffused CNS compromission rather than focal involvement such as SM-like clinical course or NMO-like syndrome. The association with

  12. Imaging Findings of Central Nervous System Vasculitis Associated with Goodpasture's Syndrome: a Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jee Young; Ahn, Kook Jin; Jung, Jung Im; Jung, So Lyung; Kim, Bum Soo; Hahn, Seong Tae [College of Medicine, The Catholic University of Korea, Seoul (Korea, Republic of)

    2007-12-15

    We report a rare case of CNS vasculitis associated with Goodpasture's syndrome in a 34-year-old man, who presented with a seizure and sudden onset of right sided weakness. He also had recurrent hemoptysis of one month's duration. Goodpasture's syndrome is histologically diagnosed by intense linear deposits of IgG along the glomerular basement membrane in both renal and lung tissues. oodpasture's syndrome is a rare disease, characterized by rapidly progressive glomerulonephritis, diffuse pulmonary hemorrhage and circulating antiglomerular basement membrane antibody (anti-GBM antibody). Central nervous system (CNS) manifestations in Goodpasture's syndrome are extremely rare, with only a few cases having been reported in the literature (8 10). Therefore, we present our imaging findings of CNS vasculitis associated with Goodpasture's syndrome, together with a review of the relevant literature. In summary, CNS vasculitis associated with Goodpasture's syndrome is extremely rare. Awareness of the imaging findings, as well as the clinical significance of CNS vasculitis associated with Goodpasture's syndrome, can be helpful in making the correct diagnosis and subsequent management of this rare condition.

  13. Evaluation of the Endothelial Cell Density and the Central Corneal Thickness in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

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    Bożydar T. Tomaszewski

    2014-01-01

    Full Text Available Purpose. Evaluation of central corneal thickness (CCT and endothelial cell density (ECD in patients with senile cataract and coexisting pseudoexfoliation (PEX syndrome with glaucoma (PEXG and without glaucoma using specular microscopy. Participants and Methods. The study included 122 patients (217 eyes. In this group of patients we identified 133 eyes with PEX syndrome (65 with glaucoma, 68 without glaucoma and 84 eyes without PEX syndrome. ECD and CCT were measured in each eye by specular microscopy. Results. ECD in eyes with PEX syndrome without glaucoma (2297 ± 359 cell/mm2 and in eyes with PEXG (2241 ± 363 cell/mm2 was lower than in the control group (2503 ± 262 cell/mm2 (P<0.001. CCT in eyes with PEXG (508.2 ± 32.6 μm was thinner than in eyes with PEX syndrome without glaucoma (529.7 ± 30.3 μm and control group (527.7 ± 29.4 μm (P<0.001. Conclusions. This research shows that in eyes with PEX syndrome, both with and without glaucoma, ECD was statistically significantly lower than in the control group. In patients with PEXG, CCT was statistically significantly thinner than in the PEX syndrome and control group.

  14. Bilateral Central Retinal Vein Occlusions Combined with Artery Occlusions in A Patient with Acquired Immune Deficiency Syndrome

    Institute of Scientific and Technical Information of China (English)

    Feng Wen; Xuemei Chen; Haitai Li; Ruiduan Liao; Dezheng Wu

    2002-01-01

    Purpose: This is the first report of a bilateral nonischemic central retinal vein occlusionscombined with artery occlusions in a patient with acquired immune deficiency syndrome(AIDS). Methods: Case report. Results: A 22-year-old Chinese(male) with a positive human immunodeficiency virus(HIV) infection developed bilateral nonischemic central retinal vein occlusions combinedwith artery occlusions and severe vision loss. The manifestations of the fundus andfluorescein angiography were similar in both eyes.Conclusion: This case report provides the evidences that central retinal vein and arteryocclusions are probably part of the spectrum of AIDS vascular diseases.

  15. Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: an overview of Down syndrome, autism, Fragile X and Rett syndrome.

    Science.gov (United States)

    Valenti, Daniela; de Bari, Lidia; De Filippis, Bianca; Henrion-Caude, Alexandra; Vacca, Rosa Anna

    2014-10-01

    Clinical manifestations typical of mitochondrial diseases are often present in various genetic syndromes associated with intellectual disability, a condition leading to deficit in cognitive functions and adaptive behaviors. Until now, the causative mechanism leading to intellectual disability is unknown and the progression of the condition is poorly understood. We first report latest advances on genetic and environmental regulation of mitochondrial function and its role in brain development. Starting from the structure, function and regulation of the oxidative phosphorylation apparatus, we review how mitochondrial biogenesis and dynamics play a central role in neurogenesis and neuroplasticity. We then discuss how dysfunctional mitochondria and alterations in reactive oxygen species homeostasis are potentially involved in the pathogenesis of various neurodevelopmental syndromes with a special focus on Down, Rett, Fragile X syndromes and autism spectrum disorders. Finally, we review and suggest novel therapeutic approaches aimed at improving intellectual disability by activating mitochondrial function and reducing oxidative stress to amiliorate the quality of life in the subjects affected.

  16. Systemic 5-fluorouracil treatment causes a syndrome of delayed myelin destruction in the central nervous system

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    Han Ruolan

    2008-04-01

    Full Text Available Abstract Background Cancer treatment with a variety of chemotherapeutic agents often is associated with delayed adverse neurological consequences. Despite their clinical importance, almost nothing is known about the basis for such effects. It is not even known whether the occurrence of delayed adverse effects requires exposure to multiple chemotherapeutic agents, the presence of both chemotherapeutic agents and the body's own response to cancer, prolonged damage to the blood-brain barrier, inflammation or other such changes. Nor are there any animal models that could enable the study of this important problem. Results We found that clinically relevant concentrations of 5-fluorouracil (5-FU; a widely used chemotherapeutic agent were toxic for both central nervous system (CNS progenitor cells and non-dividing oligodendrocytes in vitro and in vivo. Short-term systemic administration of 5-FU caused both acute CNS damage and a syndrome of progressively worsening delayed damage to myelinated tracts of the CNS associated with altered transcriptional regulation in oligodendrocytes and extensive myelin pathology. Functional analysis also provided the first demonstration of delayed effects of chemotherapy on the latency of impulse conduction in the auditory system, offering the possibility of non-invasive analysis of myelin damage associated with cancer treatment. Conclusions Our studies demonstrate that systemic treatment with a single chemotherapeutic agent, 5-FU, is sufficient to cause a syndrome of delayed CNS damage and provide the first animal model of delayed damage to white-matter tracts of individuals treated with systemic chemotherapy. Unlike that caused by local irradiation, the degeneration caused by 5-FU treatment did not correlate with either chronic inflammation or extensive vascular damage and appears to represent a new class of delayed degenerative damage in the CNS.

  17. Similar deficits of central histaminergic system in patients with Down syndrome and Alzheimer disease.

    Science.gov (United States)

    Schneider, C; Risser, D; Kirchner, L; Kitzmüller, E; Cairns, N; Prast, H; Singewald, N; Lubec, G

    1997-02-01

    In order to study whether Alzheimer-like neuropathological changes involve the central histaminergic system we measured the concentration of histamine, its precursor histidine as well as the activity of histidine decarboxylase (HDC) and histamine-N-methyl-transferase (HMT) in frontal cortex of aging Down syndrome (DS) patients, Alzheimer patients and control individuals. The study populations were also investigated for choline acetyltransferase (ChAT) activity, since reduced ChAT activity is an established biochemical hallmark in DS and Alzheimer disease (AD). HDC and ChAT activity were reduced in brains of both DS and Alzheimer patients versus control patients. Additionally, we observed a significant decrease of histamine levels in the DS group. Histamine levels in AD brains tended to be decreased. Histidine concentrations and HMT activities were comparable between the three groups. Thus, our results for the first time show histaminergic deficits in brains of patients with DS resembling the neurochemical pattern in AD. Neuropathological changes may be responsible for similar neurochemical alterations of the histaminergic system in both dementing disorders.

  18. Anterior cervical surgery methods for central cord syndrome without radiographic spinal fracture-dislocation

    Institute of Scientific and Technical Information of China (English)

    Chengwei JING; Qin FU; Xiaojun XU

    2009-01-01

    This study was aimed to explore the anterior cervical surgery methods to treat central cord syndrome without radiographic spinal fracture-dislocation (CCSWORFD), retrospectively analyze the cases of CCSWORFD, and evaluate the curative effect of anterior cervical surgery methods for CCSWORFD. Twenty four cases of CCSWORFD (19 males and 5 females), all suffering from cervical hyperextension injury, between 45-68 (average 59) years old, were operated on by anterior cervical surgery methods. Among these, 18 cases had been followed up for 6-24 (average 15) months; 18 cases, who had anterior decompression and plate fixation with titanium mesh bone grafting or iliac bone grafting achieved reliable effects based on the Japanese Orthopedics Association (JOA) evaluation (improved scores of cases with titanium mesh bone grafting, t = 2.800, P0.05). Most of these cases had degeneration of cervical vertebra. The decompression which relieves the oppression to the spinal cord can help lessen edema of the spinal cord, and early fixation for stability of cervical vertebra is better for the recovery of spinal cord injury. Anterior operation with titanium mesh bone grafting or iliac bone grafting are both reliable curative methods for CCSWORFD, and titanium mesh bone grafting can avoid the trauma of the supplying graft. Mesh bone grafting can also shorten hospital stay.

  19. Endocrine management of children with Prader–Willi syndrome

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    Medeiros CB

    2013-10-01

    Full Text Available Clarice Borschiver Medeiros,1 Ana Paula Bordallo,1 Flavio Moutinho Souza,2 Paulo Ferrez Collett-Solberg1,31Endocrinology Unit, Departamento de Medicina Interna, Faculdade de Ciências Médicas, Universidade do Estado do Rio de Janeiro (UERJ, Rio de Janeiro, Brazil; 2Pediatric Endocrinology Unit, Departamento de Pediatria, Hospital Federal Cardoso Fontes – Ministério da Saúde do Brasil, Brasília, Brazil; 3Laboratório de Pesquisas Clínicas e Experimentais em Biologia Vascular (BioVasc, Universidade do Estado do Rio de Janeiro (UERJ, Rio de Janeiro, BrazilAbstract: Prader–Willi syndrome is a rare genetic condition afflicting nearly 1/15,000 live births. Clinical features include neonatal hypotonia, poor weight gain in early infancy followed by binge eating from childhood to adulthood, severe obesity, developmental delay, short stature, and hypogonadism of both central and peripheral etiology. Central hypothyroidism and adrenal insufficiency may occur. Sleep disordered breathing, by obstruction of upper airways associated with central hypoventilation, is a common feature. Most of these characteristics are assumed to be the result of a hypothalamic dysfunction. The most important complication and the most difficult to manage is the obesity. This review aims at discussing the most recent strategies to manage the endocrine complications of Prader–Willi syndrome patients, with a special approach on the treatment of obesity, hypogonadism, and short stature. We summarize the indication and effects of recombinant human growth hormone therapy on growth, cognitive development, and body composition, and discuss the effects of recombinant human growth hormone therapy on the resulting sleep disorders.Keywords: Prader–Willi syndrome, obesity, hypogonadism, growth hormone, sleep disorder

  20. Gait kinematic analysis in patients with a mild form of central cord syndrome

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    Crespo-Ruiz Beatriz

    2011-02-01

    Full Text Available Abstract Background Central cord syndrome (CCS is considered the most common incomplete spinal cord injury (SCI. Independent ambulation was achieved in 87-97% in young patients with CCS but no gait analysis studies have been reported before in such pathology. The aim of this study was to analyze the gait characteristics of subjects with CCS and to compare the findings with a healthy age, sex and anthropomorphically matched control group (CG, walking both at a self-selected speed and at the same speed. Methods Twelve CCS patients and a CG of twenty subjects were analyzed. Kinematic data were obtained using a three-dimensional motion analysis system with two scanner units. The CG were asked to walk at two different speeds, at a self-selected speed and at a slower one, similar to the mean gait speed previously registered in the CCS patient group. Temporal, spatial variables and kinematic variables (maximum and minimum lower limb joint angles throughout the gait cycle in each plane, along with the gait cycle instants of occurrence and the joint range of motion - ROM were compared between the two groups walking at similar speeds. Results The kinematic parameters were compared when both groups walked at a similar speed, given that there was a significant difference in the self-selected speeds (p Conclusions The gait pattern of CCS patients showed a decrease of knee and ankle sagittal ROM during level walking and an increase in hip abduction to increase base of support. The findings of this study help to improve the understanding how CCS affects gait changes in the lower limbs.

  1. The central role of cognitive processes in the perpetuation of chronic fatigue syndrome.

    NARCIS (Netherlands)

    Knoop, H.; Prins, J.B.; Moss-Morris, R.; Bleijenberg, G.

    2010-01-01

    OBJECTIVE: Chronic fatigue syndrome (CFS) is considered to be one of the functional somatic syndromes (FSS). Cognitions and behavior are thought to perpetuate the symptoms of CFS. Behavioral interventions based on the existing models of perpetuating factors are quite successful in reducing fatigue a

  2. Sleep hypoventilation and daytime hypercapnia in stable chronic obstructive pulmonary disease

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    Holmedahl NH

    2014-02-01

    Full Text Available Nils Henrik Holmedahl,1 Britt Øverland,2 Ove Fondenes,3 Ivar Ellingsen,1 Jon Andrew Hardie4 1Glittreklinikken LHL Helse as, Hakadal, Norway; 2Lovisenberg Diakonale Hospital, ENT Department, Oslo, Norway; 3Norwegian National Centre of Excellence in Home Mechanical Ventilation, Haukeland University Hospital, Bergen, Norway; 4Department of Clinical Science, University of Bergen, Norway Purpose: To explore the associations between sleep hypoventilation (SH and daytime arterial pressures of carbon dioxide (PaCO2, sleep stages, and sleep apneas/hypopneas (AHI in subjects with chronic obstructive pulmonary disease (COPD. SH has previously been found in COPD-subjects with chronic hypercapnic respiratory failure (CHRF using supplementary oxygen (LTOT, and has been proposed as a possible predictor for CHRF. Patients and methods: A prospectively designed observational study in a pulmonary rehabilitation hospital of 100 (39 male stable COPD inpatients with a mean forced expiratory volume in 1 second (FEV1 of 1.1 L (42% of predicted and a mean age of 64 years, using polysomnography with transcutaneous measurement of carbon dioxide pressure increase (ΔPtcCO2. Results: SH as defined by the American Academy of Sleep Medicine (AASM was found in 15 of the subjects, seven of whom used LTOT. However, six had SH despite being normocapnic during the daytime (only one on LTOT. Subjects with SH had a greater ΔPtcCO2 increase from nonrapid eye movement (NREM to rapid eye movement (REM sleep stages compared to non-SH subjects (mean [standard deviation] between-groups difference =0.23(0.20 kPa, P<0.0005. Subjects with apnea/hypopnea index ≥15 (overlap, N=27 did not differ from those with COPD alone (AHI <5, N=25 in sleep ΔPtcCO2 or daytime PaCO2. A regression model with the variables FEV1, LTOT, and sleep maximum ΔPtcCO2 explained 56% of the variance in daytime PaCO2 (F(3, 94 =40.37, P<0.001. Conclusion: In stable COPD, SH as defined by the AASM was found both in

  3. Unilateral central retinal artery occlusion as the sole presenting sign of Susac syndrome in a young man: case report

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    Samira Luiza dos Apóstolos-Pereira

    2013-06-01

    Full Text Available We report the case of a 24-year-old man presenting with sudden visual loss in the left eye from a central retinal artery occlusion. An extensive clinical investigation revealed no etiology. Three weeks later, however, the patient developed hearing loss followed by encephalopathy and multiple branch retinal artery occlusions in the right eye. Fluorescein angiography confirmed retinal vascular occlusions with no sign of vasculitis. The neurological examination revealed a diffuse encephalopathy while the MRI scan disclosed several small areas of infarcts in the brain. Bilateral sensorineural hearing loss was confirmed on audiometry. The patient was diagnosed with Susac syndrome and treated with methylprednisolone and cyclophosphamide, resulting in slight improvement and stabilization. This case shows that Susac syndrome may be diagnosed late due to the absence at onset of one or more of the symptoms of the classic triad (encephalopathy, multiple branch retinal artery occlusions and hearing loss. This case also serves to emphasize that Susac syndrome should be considered in the differential diagnosis of central retinal artery occlusion, even in apparently healthy young men.

  4. Dispersal syndromes related to edge distance in cerrado sensu stricto fragments of central-western Brazil

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    André Vitor Fleuri Jardim

    2009-10-01

    Full Text Available The main selective forces affecting the fruiting strategies are related to the environment in which plants occur. As a savanna, microclimatic conditions should not vary in relation to distance from edge in cerrado sensu stricto fragments. Thus, we postulated that the importance of different dispersal syndromes would not vary towards the fragment core. Our aim was to test in four cerrado sensu stricto fragments in central Brazil whether the absolute density of anemo-, auto-, and zoochorous individuals varied in relation to edge distance. According to results, the absolute density of anemo-and autochorous individuals did not vary, whereas those of zoochorous individuals increased with edge distance, pointing out that there were other factors rather than abiotic conditions shifting zoochorous species to the interior of cerrado sensu stricto fragments.As principais forças seletivas que afetam as estratégias de frutificação estão relacionadas ao ambiente em que as plantas ocorrem. Como fragmentos de cerrado sensu stricto são savânicos, as condições microclimáticas não devem variar em relação à distância da borda. Assim, postulamos que a importância das diferentes síndromes de dispersão não varia da borda ao interior de um fragmento de vegetação. O objetivo deste trabalho foi testar, em quatro fragmentos de cerrado sensu stricto (centro-oeste do Brasil, se a densidade absoluta de indivíduos anemo, auto e zoocóricos variava em função da distância da borda. Segundo nossos resultados, a densidade absoluta de indivíduos anemo e autocóricos não variou significativamente borda em direção ao interior dos fragmentos, enquanto que a dos indivíduos zoocóricos aumentou, indicando que existem outros fatores, que não as condições abióticas, deslocando as espécies zoocóricas para o interior dos fragmentos de cerrado sensu stricto.

  5. Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome.

    Directory of Open Access Journals (Sweden)

    Agnieszka Zmyslowska

    Full Text Available Wolfram syndrome (WFS is inherited as an autosomal recessive disease with main clinical features of diabetes mellitus, optic atrophy, diabetes insipidus and deafness. However, various neurological defects may also be detected. The aim of this study was to evaluate aspects of brain structure and function using PET-CT (positron emission tomography and computed tomography and MRI (magnetic resonance imaging in pediatric patients with WFS. Regional changes in brain glucose metabolism were measured using standardized uptake values (SUVs based on images of (18F fluorodeoxyglucose (FDG uptake in 7 WFS patients aged 10.1-16.0 years (mean 12.9±2.4 and in 20 healthy children aged 3-17.9 years (mean 12.8±4.1. In all patients the diagnosis of WFS was confirmed by DNA sequencing of the WFS1 gene. Hierarchical clustering showed remarkable similarities of glucose uptake patterns among WFS patients and their differences from the control group. SUV data were subsequently standardized for age groups 13 years old to account for developmental differences. Reduced SUVs in WFS patients as compared to the control group for the bilateral brain regions such as occipital lobe (-1.24±1.20 vs. -0.13±1.05; p = 0.028 and cerebellum (-1.11±0.69 vs. -0.204±1.00; p = 0.036 were observed and the same tendency for cingulate (-1.13±1.05 vs. -0.15±1.12; p = 0.056, temporal lobe (-1.10±0.98 vs. -0.15±1.10; p = 0.057, parietal lobe (-1.06±1.20 vs. -0.08±1.08; p = 0.058, central region (-1.01±1.04 vs. -0.09±1.06; p = 0.060, basal ganglia (-1.05±0.74 vs. -0.20±1.07; p = 0.066 and mesial temporal lobe (-1.06±0.82 vs. -0.26±1.08; p = 0.087 was also noticed. After adjusting for multiple hypothesis testing, the differences in glucose uptake were non-significant. For the first time, regional differences in brain glucose metabolism among patients with WFS were shown using PET-CT imaging.

  6. Animal models of Central Diabetes Insipidus: Human relevance of acquired beyond hereditary syndromes and the role of oxytocin.

    Science.gov (United States)

    Bernal, Antonio; Mahía, Javier; Puerto, Amadeo

    2016-07-01

    The aim of this study was to review different animal models of Central Diabetes Insipidus, a neurobiological syndrome characterized by the excretion of copious amounts of diluted urine (polyuria), a consequent water intake (polydipsia), and a rise in the serum sodium concentration (hypernatremia). In rodents, Central Diabetes Insipidus can be caused by genetic disorders (Brattleboro rats) but also by various traumatic/surgical interventions, including neurohypophysectomy, pituitary stalk compression, hypophysectomy, and median eminence lesions. Regardless of its etiology, Central Diabetes Insipidus affects the neuroendocrine system that secretes arginine vasopressin, a neurohormone responsible for antidiuretic functions that acts trough the renal system. However, most Central Diabetes Insipidus models also show disorders in other neurobiological systems, specifically in the secretion of oxytocin, a neurohormone involved in body sodium excretion. Although the hydromineral behaviors shown by the different Central Diabetes Insipidus models have usually been considered as very similar, the present review highlights relevant differences with respect to these behaviors as a function of the individual neurobiological systems affected. Increased understanding of the relationship between the neuroendocrine systems involved and the associated hydromineral behaviors may allow appropriate action to be taken to correct these behavioral neuroendocrine deficits.

  7. Animal models of Central Diabetes Insipidus: Human relevance of acquired beyond hereditary syndromes and the role of oxytocin.

    Science.gov (United States)

    Bernal, Antonio; Mahía, Javier; Puerto, Amadeo

    2016-07-01

    The aim of this study was to review different animal models of Central Diabetes Insipidus, a neurobiological syndrome characterized by the excretion of copious amounts of diluted urine (polyuria), a consequent water intake (polydipsia), and a rise in the serum sodium concentration (hypernatremia). In rodents, Central Diabetes Insipidus can be caused by genetic disorders (Brattleboro rats) but also by various traumatic/surgical interventions, including neurohypophysectomy, pituitary stalk compression, hypophysectomy, and median eminence lesions. Regardless of its etiology, Central Diabetes Insipidus affects the neuroendocrine system that secretes arginine vasopressin, a neurohormone responsible for antidiuretic functions that acts trough the renal system. However, most Central Diabetes Insipidus models also show disorders in other neurobiological systems, specifically in the secretion of oxytocin, a neurohormone involved in body sodium excretion. Although the hydromineral behaviors shown by the different Central Diabetes Insipidus models have usually been considered as very similar, the present review highlights relevant differences with respect to these behaviors as a function of the individual neurobiological systems affected. Increased understanding of the relationship between the neuroendocrine systems involved and the associated hydromineral behaviors may allow appropriate action to be taken to correct these behavioral neuroendocrine deficits. PMID:27118135

  8. Assessment of central chemosensitivity and cardiac sympathetic nerve activity using I-123 MIBG imaging in central sleep apnea syndrome in patients with dilated cardiomyopathy

    International Nuclear Information System (INIS)

    Iodine-123 m-iodobenzylguanidine (MIBG) imaging has been used to study cardiac sympathetic function in various cardiac diseases. Central sleep apnea syndrome (CSAS) occurs frequently in patients with chronic heart failure (CHF) and is reported to be associated with a poor prognosis. One of the mechanisms of its poor prognosis may be related to impaired cardiac sympathetic activity. However, the relationship between chemosensitivity to carbon dioxide, which is reported to correlate with the severity of CSAS, and cardiac sympathetic activity has not been investigated. Therefore, this study was undertaken to assess cardiac sympathetic function and chemosensitivity to carbon dioxide in CHF patients. The oxygen desaturation index (ODI) was evaluated in 21 patients with dilated cardiomyopathy (male/female: 19/2, left ventricular ejection fraction (LVEF)5 times/h underwent polysomnography. Patients with an apnea hypopnea index >15/h but without evidence of obstructive apnea were defined as having CSAS. Early (15 min) and delayed (4 hr) planar MIBG images were obtained from these patients. The mean counts in the whole heart and the mediastinum were obtained. The heart-to-mediastinum count ratio of the delayed image (H/M) and the corrected myocardial washout rate (WR) were also calculated. The central chemoreflex was assessed with the rebreathing method using a hypercapnic gas mixture (7% CO2 and 93% O2). Ten of the 21 patients had CSAS. The H/M ratio was similar in patients both with and without CSAS (1.57±0.18 vs. 1.59±0.14, p=0.82). However, the WR was higher in patients with CSAS than in patients without CSAS (40±8% vs. 30±12%, p<0.05). ODI significantly correlated with central chemosensitivity to carbon dioxide. Moreover, there was a highly significant correlation between WR and central chemosensitivity (r=0.65, p<0.05). However, there was no correlation between ODI and the WR (r=0.36, p=0.11). Cardiac sympathetic nerve activity in patients with CHF and CSAS is

  9. Síndrome do incisivo central superior solitário: relato de caso Solitary median maxillary central incisor syndrome: case report

    Directory of Open Access Journals (Sweden)

    Eduardo Machado

    2010-08-01

    Full Text Available INTRODUÇÃO: a presença de um incisivo central superior solitário é um evento bastante incomum na população. A prevalência da chamada Síndrome do Incisivo Central Superior Solitário (SICSS é verificada em 1:50.000 nascimentos, sendo registrado um maior acometimento no sexo feminino. Essa alteração no desenvolvimento da oclusão dentária é caracterizada por más formações estruturais, sobretudo na região de linha média do paciente. O diagnóstico precoce e o tratamento adequado dessa síndrome são de grande importância, pois essa condição talvez seja um indicativo de que o paciente pode apresentar outras más formações congênitas severas, não devendo ser a SICSS considerada uma simples anomalia dentária. Os procedimentos ortodônticos, nesses casos, variam dependendo do grau de comprometimento das estruturas ósseas da maxila, da oclusão em si, e principalmente da sutura palatina mediana. OBJETIVO: discutir, baseado em evidências científicas, aspectos importantes relacionados à SICSS, bem como apresentar um caso clínico de paciente do sexo feminino com SICSS, que foi submetida a tratamento ortodôntico na Clínica Odontológica Integrada Infantil da Universidade Federal de Santa Maria / RS. CONCLUSÃO: pela análise crítica da literatura, verifica-se ser muito importante o diagnóstico correto e precoce acerca dessa síndrome, visto que há possibilidade da mesma estar associada a outros problemas de desenvolvimento. Além disso, o paciente acometido pela SICSS deve ser assistido por uma equipe multidisciplinar de saúde, de forma a otimizar os resultados clínicos e devolver-lhe qualidade de vida.INTRODUCTION: The presence of a single median maxillary central incisor is an uncommon event in the population. The prevalence of the Solitary Median Maxillary Central Incisor (SMMCI syndrome is about 1:50,000 live births, occurring more in women. This alteration in the development of the dental occlusion is

  10. [Solitary median maxillary central incisor syndrome:a case of report].

    Science.gov (United States)

    Kang, Li-ying; Liu, Xin-qiang

    2014-04-01

    Solitary median maxillary central incisor (SMMCI) is a rare dental anomaly characterized by a symmetric central incisor of normal size, developed and erupted precisely in the midline of the maxilla in both primary and permanent dentitions. SMMCI may occur alone or be associated with other midline structures defects of the body or other systemic disorders. The best known association is holoprosencephaly (HPE). This paper reported a case of SMMCI that companied with other midline structures defects of the body. PMID:24935855

  11. Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhauser syndrome and central corneal thickness.

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    Alice E Davidson

    Full Text Available We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1. Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glaucoma (PCG. Megalocornea is also a feature of Neuhäuser or megalocornea-mental retardation (MMR syndrome, a rare condition of unknown etiology. In a male patient diagnosed with MMR, we performed targeted and whole exome sequencing (WES and identified a novel missense mutation in CHRDL1 that accounts for his MGC1 phenotype but not his non-ocular features. This finding suggests that MMR syndrome, in some cases, may be di- or multigenic. MGC1 patients have reduced central corneal thickness (CCT; however no X-linked loci have been associated with CCT, possibly because the majority of genome-wide association studies (GWAS overlook the X-chromosome. We therefore explored whether variants on the X-chromosome are associated with CCT. We found rs149956316, in intron 6 of CHRDL1, to be the most significantly associated single nucleotide polymorphism (SNP (p = 6.81×10(-6 on the X-chromosome. However, this association was not replicated in a smaller subset of whole genome sequenced samples. This study highlights the importance of including X-chromosome SNP data in GWAS to identify potential loci associated with quantitative traits or disease risk.

  12. Metabolic syndrome in the rural population of Wardha, Central India: An exploratory factor analysis

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    Pradeep R Deshmukh

    2013-01-01

    Full Text Available Background and Objectives: Metabolic syndrome - a plausible precondition for type II diabetes and cardiovascular diseases is also on rise. To understand the mechanistic complexity of metabolic syndrome it is imperative to study the specific contribution of the determinants of metabolic syndrome. Such study can help to identify the most significant factor which may be of use in early detection as well as prevention efforts. Such information is scarcely available from India and especially from rural India. Hence, the present study was undertaken to explore for such factor which might be considered crucial for development of such pathogenesis particularly in rural population of Wardha. Methods: A cross-sectional study comprising of 300 subjects was carried out in rural area of Primary Health Center, attached to medical college with approximate 31,000 populations. The anthropometric parameters such as height, weight, waist circumference were measured. Overnight fasting samples were collected for lipid profile (total cholesterol, triglyceride, high density lipoproteins, low density lipoproteins, very low density lipoproteins and fasting blood glucose levels. The National Cholesterol Education Programme Adult Treatment Panel, ATP-III guidelines were used to categorize the study subjects. As many of the variables are highly intercorrelated, exploratory factor analysis was carried out to reduce the data to a smaller number of independent factors that accounts for the most of the variances in the data. Principal component analysis was used as a method of extraction. Results: For both sexes, three factors were extracted accounting for about 71% variance in the measured variables. An adiposity factor which accounted for highest explained variance (28%, was the initial factor extracted. It was loaded positively by waist circumference, triglyceride, and very low density lipoprotein and negatively loaded by high density lipoprotein. Second factor extracted

  13. Nevirapine-induced Stevens-Johnson syndrome from a tertiary care hospital in Central India

    Directory of Open Access Journals (Sweden)

    Vandana Badar

    2014-04-01

    Full Text Available A 42 year old man, a known case of AIDS receiving antiretroviral therapy – stavudine, lamivudine, and nevirapine since 4 weeks, was admitted with erythematous rash, with blisters, and abnormal liver function test. A diagnosis of Steven-Johnson syndrome was made excluding other opportunistic infection and differential diagnosis. Nevirapine was discontinued until the patient recovered. After recovery patient was started with stavudine, lamivudine, and efavirenz treatment without re-challenge with nevirapine. [Int J Basic Clin Pharmacol 2014; 3(2.000: 408-409

  14. The Effects of Lamotrigine on Pain, Sleep, and Mood in Refractory Form of Central Post-Stroke Pain Syndrome

    Directory of Open Access Journals (Sweden)

    Peyman Petramfar

    2010-12-01

    Full Text Available Background: Central post-stroke pain (CPSP is a distressingpain syndrome, sometimes become refractory to the conventionalpain managements. Anticonvulsants have been used toalleviate different central pains. Lamotrigine is a novel anticonvulsantand its proper dosage and its efficacy have notbeen well studied yet. The aim of this study was to evaluatethe effect of 100 mg lamotrigine on refractory form of CPSP.Methods: The medical files of 17 patients with CPSP who hadnot responded to the other drugs and were treated with lamotriginewere studied. Using Brief Pain Inventory, pain, sleepand mood were assessed before, and after 8 and 24 weeks oftreatment.Results: After 24 weeks, 70.5 % of the patients responded tolamotrigine, and there was an improvement of 2.41 in themean score of average pain (P=0.001.Conclusion: Lamotrigine 100 mg daily was effective in thetreatment of refractory CPSP, and might be prescribed beforeplanning for more aggressive surgical managements.Iran J Med Sci 2010; 35(4: 299-303.

  15. Pathology of tissue loss (white syndrome) in Acropora sp. corals from the Central Pacific

    Science.gov (United States)

    Work, Thierry M.; Aeby, Greta S.

    2011-01-01

    We performed histological examination of 69 samples of Acropora sp. manifesting different types of tissue loss (Acropora White Syndrome-AWS) from Hawaii, Johnston Atoll and American Samoa between 2002 and 2006. Gross lesions of tissue loss were observed and classified as diffuse acute, diffuse subacute, and focal to multifocal acute to subacute. Corals with acute tissue loss manifested microscopic evidence of necrosis sometimes associated with ciliates, helminths, fungi, algae, sponges, or cyanobacteria whereas those with subacute tissue loss manifested mainly wound repair. Gross lesions of AWS have multiple different changes at the microscopic level some of which involve various microorganisms and metazoa. Elucidating this disease will require, among other things, monitoring lesions over time to determine the pathogenesis of AWS and the potential role of tissue-associated microorganisms in the genesis of tissue loss. Attempts to experimentally induce AWS should include microscopic examination of tissues to ensure that potentially causative microorganisms associated with gross lesion are not overlooked.

  16. Central nervous system mechanisms contributing to the cachexia-anorexia syndrome.

    Science.gov (United States)

    Plata-Salamán, C R

    2000-10-01

    The cachexia-anorexia syndrome occurs in chronic pathophysiologic processes including cancer, infection with human immunodeficiency virus, bacterial and parasitic diseases, inflammatory bowel disease, liver disease, obstructive pulmonary disease, cardiovascular disease, and rheumatoid arthritis. Cachexia makes an organism susceptible to secondary pathologies and can result in death. Cachexia-anorexia may result from pain, depression or anxiety, hypogeusia and hyposmia, taste and food aversions, chronic nausea, vomiting, early satiety, malfunction of the gastrointestinal system (delayed digestion, malabsorption, gastric stasis and associated delayed emptying, and/or atrophic changes of the mucosa), metabolic shifts, cytokine action, production of substances by tumor cells, and/or iatrogenic causes such as chemotherapy and radiotherapy. The cachexia-anorexia syndrome also involves metabolic and immune changes (mediated by either the pathophysiologic process, i.e., tumor, or host-derived chemical factors, e.g., peptides, neurotransmitters, cytokines, and lipid-mobilizing factors) and is associated with hypertriacylglycerolemia, lipolysis, and acceleration of protein turnover. These changes result in the loss of fat mass and body protein. Increased resting energy expenditure in weight-losing cachectic patients can occur despite the reduced dietary intake, indicating a systemic dysregulation of host metabolism. During cachexia, the organism is maintained in a constant negative energy balance. This can rarely be explained by the actual energy and substrate demands by tumors in patients with cancer. Overall, the cachectic profile is significantly different than that observed during starvation. Cachexia may result not only from anorexia and a decreased caloric intake but also from malabsorption and losses from the body (ulcers, hemorrhage, effusions). In any case, the major deficit of a cachectic organism is a negative energy balance. Cytokines are proposed to participate

  17. Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.

    Science.gov (United States)

    Garavelli, Livia; Zanacca, C; Caselli, G; Banchini, G; Dubourg, C; David, V; Odent, S; Gurrieri, F; Neri, G

    2004-05-15

    Solitary median maxillary central incisor (SMMCI) is a rare dental anomaly. It is usually considered as a minor manifestation of holoprosencephaly (HPE). Some reported families had severe cases of HPE in some members and SMMCI in others. Mutations of Sonic Hedgehog (SHH) have been documented in these families. SMMCI has also been found as an isolated finding or together with other anomalies such as microcephaly, short stature, endocrine pathology, and choanal atresia. We describe a patient with SMMCI and a novel SHH mutation: Val332Ala. PMID:15103725

  18. Role of central histaminergic system in lorazepam withdrawal syndrome in rats.

    Science.gov (United States)

    Nath, C; Gupta, M B

    2001-04-01

    Effects of histaminergic agonists and antagonists were investigated on withdrawal signs in lorazepam-dependent rats. Physical dependence was developed by giving lorazepam admixed with the food in the following dose schedule (in mg/kg given daily x days): 10 x 4, 20 x 4, 40 x 4, 80 x 4, and 120 x 7. The parameters observed during the periods of administration of lorazepam and after its withdrawal were spontaneous locomotor activity (SLA), reaction time to pain, foot shock aggression (FSA), and audiogenic seizures. During the withdrawal period, the rats were divided into groups of 10 each. Control-withdrawal group did not receive any drug. The drugs (in mg/kg administered intramuscularly)--L-histidine (50), histamine-N-methyl (2), promethazine (10), pheniramine (10), astemizole (10), and thioperamide (1)--were given separately in other groups daily during the withdrawal period. The withdrawal signs in control group were hyperkinesia, hyperaggression, and audiogenic seizures. L-Histidine, precursor of histamine, and thioperamide, antagonist of H3 receptor, potentiated hyperkinesia, hyperaggression, and audiogenic seizures. Histamine-N-methyl, agonist of H3 receptor, and H1 receptor antagonists, promethazine and pheniramine, blocked all the withdrawal signs. Astemizole, a peripheral antagonist of H1 receptor, could not affect any withdrawal sign. It may be concluded that histamine H1 receptors are facilitatory and H3 receptors are inhibitory for benzodiazepine (BZD) withdrawal syndrome.

  19. Ictal central apnea and bradycardia in temporal lobe epilepsy complicated by obstructive sleep apnea syndrome

    Directory of Open Access Journals (Sweden)

    Yoko Nishimura

    2015-01-01

    Full Text Available We describe the case of a 12-year-old boy who developed temporal lobe epilepsy (TLE with daily complex partial seizures (CPS and monthly generalized seizures. Moreover, he frequently snored while asleep since early childhood. Polysomnography (PSG revealed severe obstructive sleep apnea with apnea–hypopnea index (AHI of 37.8/h. Video-PSG with simultaneous electroencephalography (EEG recording captured two ictal apneic episodes during sleep, without any motor manifestations. The onset of rhythmic theta activity in the midtemporal area on EEG was preceded by the onset of apnea by several seconds and disappeared soon after cessation of central apnea. One episode was accompanied by ictal bradycardia of <48 beats/min which persisted for 50 s beyond the end of epileptic activity. After treatment with carbamazepine and tonsillectomy/adenoidectomy, the seizures were well controlled and AHI decreased to 2.5/h. Paroxysmal discharges also disappeared during this time. Uncontrolled TLE complicated by sleep apnea should be evaluated for the presence of ictal central apnea/bradycardia.

  20. Central Anticholinergic Syndrome due to Hypoxia-Induced Bradycardia in a Child with Difficult Intubation Undergoing Complete Dental Restoration: A Case Report.

    Science.gov (United States)

    Gharavifard, Mohamad; Razavi, Majid; Ghandehari Motlagh, Mehdi; Ziyaeifard, Mohsen

    2014-09-01

    Central anticholinergic syndrome (CAS) following general anesthesia (GA) is a well known syndrome in children and adults. Many cases of CAS have been previously reported in the literature. However, there are only two reports of post resuscitation CAS after administration of small doses of atropine. Hereby, we report a case of CAS in a child undergoing complete dental restoration under GA after receiving a small dose of atropine to reverse hypoxia induced bradycardia. Intraoperative events such as hypoxia or cardiac arrest may play a role as triggers for CAS. However, we cannot establish a causal relationship between the occurrence of CAS and such critical events.

  1. Central Anticholinergic Syndrome due to Hypoxia-Induced Bradycardia in a Child with Difficult Intubation Undergoing Complete Dental Restoration: A Case Report.

    Directory of Open Access Journals (Sweden)

    Mohamad Gharavifard

    2014-10-01

    Full Text Available Central anticholinergic syndrome (CAS following general anesthesia (GA is a well known syndrome in children and adults. Many cases of CAS have been previously reported in the literature. However, there are only two reports of post resuscitation CAS after administration of small doses of atropine. Hereby, we report a case of CAS in a child undergoing complete dental restoration under GA after receiving a small dose of atropine to reverse hypoxia induced bradycardia. Intraoperative events such as hypoxia or cardiac arrest may play a role as triggers for CAS. However, we cannot establish a causal relationship between the occurrence of CAS and such critical events.

  2. Implanted central venous catheter-related acute superior vena cava syndrome: management by metallic stent and endovascular repositioning of the catheter tip

    Energy Technology Data Exchange (ETDEWEB)

    Qanadli, S.D.; Mesurolle, B.; Sissakian, J.F.; Chagnon, S.; Lacombe, P. [Service de Radiologie, Hopital Ambroise Pare, 92 - Boulogne (France)

    2000-08-01

    We describe a case of a 49-year-old woman with stage-IIIB lung adenocarcinoma who experienced an acute superior vena cava syndrome related to an implanted central venous catheter without associated venous thrombosis. The catheter was surgically implanted for chemotherapy. Superior vena cava syndrome appeared after the procedure and was due to insertion of the catheter through a subclinical stenosis of the superior vena cava. Complete resolution of the patient's symptoms was obtained using stent placement and endovascular repositioning of the catheter tip. (orig.)

  3. Acute Cerebrovascular Radiation Syndrome: Radiation Neurotoxicity , mechanisms of CNS radiation injury, advanced countermeasures for Radiation Protection of Central Nervous System.

    Science.gov (United States)

    Popov, Dmitri; Jones, Jeffrey; Maliev, Slava

    Key words: Cerebrovascular Acute Radiation Syndrome (Cv ARS), Radiation Neurotoxins (RNT), Neurotransmitters, Radiation Countermeasures, Antiradiation Vaccine (ArV), Antiradiation Blocking Antibodies, Antiradiation Antidote. Psychoneuroimmunology, Neurotoxicity. ABSTRACT: To review the role of Radiation Neurotoxins in triggering, developing of radiation induced central nervous system injury. Radiation Neurotoxins - rapidly acting blood toxic lethal agent, which activated after irradiation and concentrated, circulated in interstitial fluid, lymph, blood with interactions with cell membranes, receptors and cell compartments. Radiation Neurotoxins - biological molecules with high enzymatic activity and/or specific lipids and activated or modified after irradiation. The Radiation Neurotoxins induce increased permeability of blood vessels, disruption of the blood-brain barrier, blood-cerebrospinal fluid (CSF) barrier and developing severe disorder of blood macro- and micro-circulation. Principles of Radiation Psychoneuro-immunology and Psychoneuro-allergology were applied for determination of pathological processes developed after irradiation or selective administration of Radiation Neurotoxins to radiation naïve mammals. Effects of radiation and exposure to radiation can develop severe irreversible abnormalities of Central Nervous System, brain structures and functions. Antiradiation Vaccine - most effective, advanced methods of protection, prevention, mitigation and treatment and was used for of Acute Radiation Syndromes and elaboration of new technology for immune-prophylaxis and immune-protection against ϒ, Heavy Ion, Neutron irradiation. Results of experiments suggested that blocking, antitoxic, antiradiation antibodies can significantly reduce toxicity of Radiation Toxins. New advanced technology include active immune-prophylaxis with Antiradiation Vaccine and Antiradiation therapy that included specific blocking antibodies to Radiation Neurotoxins

  4. BURNOUT SYNDROME, JOB SATISFACTION LEVELS AND RELATED FACTORS IN CENTRAL TRABZON PROVINCE PRIMARY HEALTH CENTER WORKERS

    Directory of Open Access Journals (Sweden)

    Asuman YAVUZYILMAZ

    2007-02-01

    Full Text Available Burnout manifests itself in individuals working in professions involving face-to-face contact with the public in depersonalization towards others, feelings of emotional exhaustion, and reduced feelings of personal achievement and adequacy. The objective in this study was to determine burnout and job satisfaction levels and related factors in primary health center personnel in the central part of the Turkish province of Trabzon. A total of 227 people working in central Trabzon province primary health centers participated in this cross-sectional study, a level of 90.4%. The Maslach Burnout Inventory was used to determine burnout level and the Job Satisfaction Inventory for job satisfaction. Burnout levels in health personnel were high among women (15.06±5.57, married individuals (14.80±5.65 and those dissatisfied with their working conditions (16.80±5.81; physicians (5.00±2.79, those without children (5.19±2.54, those whose spouses were not working (4.69±2.70 and smokers (4.71±3.29 had a high level of depersonalization; and married individuals were determined to have a low personal achievement level (10.24±4.14 (p=0.020, p=0.028, p=0.011, p=0.038, p=0.028, p=0.012 and p=0.010, respectively. In conclusion, gender, marital status, age, satisfaction with working conditions and income level were determined to be related to burnout and job satisfaction. [TAF Prev Med Bull 2007; 6(1.000: 41-50

  5. BURNOUT SYNDROME, JOB SATISFACTION LEVELS AND RELATED FACTORS IN CENTRAL TRABZON PROVINCE PRIMARY HEALTH CENTER WORKERS

    Directory of Open Access Journals (Sweden)

    Murat TOPBAS

    2007-02-01

    Full Text Available Burnout manifests itself in individuals working in professions involving face-to-face contact with the public in depersonalization towards others, feelings of emotional exhaustion, and reduced feelings of personal achievement and adequacy. The objective in this study was to determine burnout and job satisfaction levels and related factors in primary health center personnel in the central part of the Turkish province of Trabzon. A total of 227 people working in central Trabzon province primary health centers participated in this cross-sectional study, a level of 90.4%. The Maslach Burnout Inventory was used to determine burnout level and the Job Satisfaction Inventory for job satisfaction. Burnout levels in health personnel were high among women (15.06±5.57, married individuals (14.80±5.65 and those dissatisfied with their working conditions (16.80±5.81; physicians (5.00±2.79, those without children (5.19±2.54, those whose spouses were not working (4.69±2.70 and smokers (4.71±3.29 had a high level of depersonalization; and married individuals were determined to have a low personal achievement level (10.24±4.14 (p=0.020, p=0.028, p=0.011, p=0.038, p=0.028, p=0.012 and p=0.010, respectively. In conclusion, gender, marital status, age, satisfaction with working conditions and income level were determined to be related to burnout and job satisfaction. [TAF Prev Med Bull. 2007; 6(1: 41-50

  6. Magnetic resonance imaging: early detection of central nervous system involvement in acquired immunodeficiency syndrome (AIDS)

    International Nuclear Information System (INIS)

    Central Nervous System (CNS) involvement, whether primary by the Human Immunodeficiency Virus - HIV - itself, or secondary (toxoplasmosis or lymphoma) is remarkably frequent in AIDS, in 40 to 70% of cases, depending upon the author. In order to study the natural history of this illness, a cohort of 25 asymptomatic seropositive patients have been established. Every 6 months these patients undergo biological and clinical examinations, as well as Magnetic Resonance brain scans. After two examinations at a 6 month's interval, the first results are reported. Out of these 25 cases, 9 present anomalies: One patient with diffuse cerebral atrophy and 8 others with high signal intensity areas on T2 weighted sequences, like those of the Multiple Sclerosis. No relationship could be demonstrated between the existence of these lesions and various criteria such as age, sex, risk factors and T4 cells count. The nature of these lesions is not lear. They certainly indicate early involvement of the CNS after primary infection by the HIV virus. They may either represent scars of the primary infection or early alterations announcing developing encephalopathy

  7. Central obesity and atherogenic dyslipidemia in metabolic syndrome are associated with increased risk for colorectal adenoma in a Chinese population

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    Lin Tsann

    2010-05-01

    Full Text Available Abstract Background Metabolic syndrome (MetS is composed of cardiovascular risk factors including insulin resistance, obesity, dyslipidemia, and hypertension. Most of the components of MetS have been linked to the development of neoplasm. The purpose of this study was to evaluate the relationship between individual components of MetS and colorectal adenoma. Methods The study subjects were recruited from a pool of 4872 individuals who underwent a health check-up examination during the period January 2006 to May 2008. Each participant fulfilled a structured questionnaire. MetS was defined based on the America Heart Association and National Heart Lung Blood Institute criteria. Subjects with history of colon cancer, colon polyps, colitis, or prior colonic surgery were excluded. Results A total of 4122 subjects were included for final analysis (2367 men and 1755 women; mean age, 49.6 ± 11.7 years. Of them, MetS was diagnosed in 708 men (29.9% and in 367 women (20.9%. Among the patients with MetS, 34.6% had adenoma, 31.7% had hyperplastic polyps and 23.3% were polyp-free (p Conclusions Of the components of MetS analyzed in this study, central obesity and dyslipidemia are independent risk factors for colorectal adenoma. With regard to the prevention of colorectal neoplasm, life-style modification such as weight reduction is worthwhile.

  8. Sternoplasty and rib distraction in neonatal Jeune syndrome.

    LENUS (Irish Health Repository)

    Conroy, Eimear

    2010-09-01

    A 12-week-old boy with Jeune syndrome (asphyxiating thoracic dystrophy) was referred to the orthopaedic unit with progressive respiratory failure, recurrent respiratory tract infections, and recurrent admissions to the intensive care unit for ventilatory support. His chest x-ray revealed a small and narrow thoracic cage with short broad ribs and abnormal costal cartilages. His chest expansion was impaired by the short, horizontally positioned ribs resulting in alveolar hypoventilation. Without surgical intervention to expand his thoracic cage, he would die of respiratory failure.

  9. Dental trauma clinically mimicking single central incisor syndrome = Traumatismo dentário mimetizando clinicamente a síndrome do incisivo central único

    OpenAIRE

    Moreira, Rafaela Nogueira

    2012-01-01

    Objetivo: Apresentar um caso clínico de ausência de um incisivo central perdido por traumatismo e encaminhado ao ortodontista com suspeita de apresentar síndrome do incisivo central único (SMMCI). Descrição do caso: Paciente gênero feminino, 12 anos com queixa da aparência de seus dentes. Ao exame intrabucal observou-se a presença de um incisivo central único localizado na linha média sem espaçamentos em relação aos incisivos laterais superiores. A paciente relatou dois episódios de avulsã...

  10. Imbalance between thyroid hormones and the dopaminergic system might be central to the pathophysiology of restless legs syndrome: a hypothesis

    Directory of Open Access Journals (Sweden)

    Jose Carlos Pereira Jr.

    2010-01-01

    Full Text Available Data collected from medical literature indicate that dopaminergic agonists alleviate Restless Legs Syndrome symptoms while dopaminergic agonists antagonists aggravate them. Dopaminergic agonists is a physiological regulator of thyroid-stimulating hormone. Dopaminergic agonists infusion diminishes the levels of thyroid hormones, which have the ability to provoke restlessness, hyperkinetic states, tremors, and insomnia. Conditions associated with higher levels of thyroid hormones, such as pregnancy or hyperthyroidism, have a higher prevalence of Restless Legs Syndrome symptoms. Low iron levels can cause secondary Restless Legs Syndrome or aggravate symptoms of primary disease as well as diminish enzymatic activities that are involved in dopaminergic agonists production and the degradation of thyroid hormones. Moreover, as a result of low iron levels, dopaminergic agonists diminishes and thyroid hormones increase. Iron therapy improves Restless Legs Syndrome symptoms in iron deprived patients. Medical hypothesis. To discuss the theory that thyroid hormones, when not counterbalanced by dopaminergic agonists, may precipitate the signs and symptoms underpinning Restless Legs Syndrome. The main cause of Restless Legs Syndrome might be an imbalance between the dopaminergic agonists system and thyroid hormones.

  11. Imbalance between thyroid hormones and the dopaminergic system might be central to the pathophysiology of restless legs syndrome: a hypothesis.

    Science.gov (United States)

    Pereira, Jose Carlos; Pradella-Hallinan, Marcia; Lins Pessoa, Hugo de

    2010-05-01

    Data collected from medical literature indicate that dopaminergic agonists alleviate Restless Legs Syndrome symptoms while dopaminergic agonists antagonists aggravate them. Dopaminergic agonists is a physiological regulator of thyroid-stimulating hormone. Dopaminergic agonists infusion diminishes the levels of thyroid hormones, which have the ability to provoke restlessness, hyperkinetic states, tremors, and insomnia. Conditions associated with higher levels of thyroid hormones, such as pregnancy or hyperthyroidism, have a higher prevalence of Restless Legs Syndrome symptoms. Low iron levels can cause secondary Restless Legs Syndrome or aggravate symptoms of primary disease as well as diminish enzymatic activities that are involved in dopaminergic agonists production and the degradation of thyroid hormones. Moreover, as a result of low iron levels, dopaminergic agonists diminishes and thyroid hormones increase. Iron therapy improves Restless Legs Syndrome symptoms in iron deprived patients. Medical hypothesis. To discuss the theory that thyroid hormones, when not counterbalanced by dopaminergic agonists, may precipitate the signs and symptoms underpinning Restless Legs Syndrome. The main cause of Restless Legs Syndrome might be an imbalance between the dopaminergic agonists system and thyroid hormones. PMID:20535374

  12. Effect of electroacupuncture on P2X3 receptor regulation in the peripheral and central nervous systems of rats with visceral pain caused by irritable bowel syndrome

    OpenAIRE

    Weng, Z. J.; L. Y. Wu; Zhou, C. L.; Dou, C. Z.; Shi, Y; H. R. Liu; Wu, H. G.

    2015-01-01

    The aim of this study is to investigate the role of the purinergic receptor P2X3 in the peripheral and central nervous systems during acupuncture treatment for the visceral pain of irritable bowel syndrome (IBS). A total of 24 8-day-old Sprague–Dawley (SD) neonatal male rats (SPF grade) were stimulated using colorectal distention (CRD) when the rats were awake. The modeling lasted for 2 weeks with one stimulation per day. After 6 weeks, the rats were randomly divided into three groups of eigh...

  13. A Systematic Review of Peripheral and Central Nervous System Involvement of Rheumatoid Arthritis, Systemic Lupus Erythematosus, Primary Sjögren’s Syndrome, and Associated Immunological Profiles

    Directory of Open Access Journals (Sweden)

    Anastasia Bougea

    2015-01-01

    Full Text Available Both central (CNS and peripheral nervous system (PNS complications are frequent and varied in connective tissue diseases. A systematic review was conducted between 1989 and 2014 in the databases Medline, Scopus, and Cochrane Library using the search terms, peripheral and central nervous complications and immunological profiles, to identify studies in specific connective tissue disorders such as rheumatoid arthritis, systemic lupus erythematosus, and primary Sjögren’s syndrome. A total of 675 references were identified, of which 118 were selected for detailed analysis and 22 were included in the final review with a total of 2338 participants. Our search focused only on studies upon connective tissue disorders such as rheumatoid arthritis, systemic lupus erythematosus, and primary Sjögren’s syndrome associated with seroimmunological data. The reported prevalence of CNS involvement ranges from 9 to 92% across the reported studies. However, the association between CNS and PNS manifestations and seroimmunological profiles remains controversial. Τo date, no laboratory test has been shown as pathognomonic neither for CNS nor for PNS involvement.

  14. Síndrome do incisivo central superior solitário: relato de caso Solitary median maxillary central incisor syndrome: case report

    OpenAIRE

    Eduardo Machado; Patricia Machado; Betina Grehs; Renésio Armindo Grehs

    2010-01-01

    INTRODUÇÃO: a presença de um incisivo central superior solitário é um evento bastante incomum na população. A prevalência da chamada Síndrome do Incisivo Central Superior Solitário (SICSS) é verificada em 1:50.000 nascimentos, sendo registrado um maior acometimento no sexo feminino. Essa alteração no desenvolvimento da oclusão dentária é caracterizada por más formações estruturais, sobretudo na região de linha média do paciente. O diagnóstico precoce e o tratamento adequado dessa síndrome são...

  15. Imbalance between thyroid hormones and the dopaminergic system might be central to the pathophysiology of restless legs syndrome: a hypothesis

    OpenAIRE

    Jose Carlos Pereira Jr.; Marcia Pradella-Hallinan; Hugo de Lins Pessoa

    2010-01-01

    Data collected from medical literature indicate that dopaminergic agonists alleviate Restless Legs Syndrome symptoms while dopaminergic agonists antagonists aggravate them. Dopaminergic agonists is a physiological regulator of thyroid-stimulating hormone. Dopaminergic agonists infusion diminishes the levels of thyroid hormones, which have the ability to provoke restlessness, hyperkinetic states, tremors, and insomnia. Conditions associated with higher levels of thyroid hormones, such as pregn...

  16. Stiff-person syndrome (SPS) and anti-GAD-related CNS degenerations: protean additions to the autoimmune central neuropathies.

    Science.gov (United States)

    Ali, Fatima; Rowley, Merrill; Jayakrishnan, Bindu; Teuber, Suzanne; Gershwin, M Eric; Mackay, Ian R

    2011-09-01

    Stiff Person Syndrome (SPS) is a rare autoimmune neurological disease attributable to autoantibodies to glutamic acid decarboxylase (anti-GAD) more usually associated with the islet beta cell destruction of autoimmune type 1 diabetes (T1D). SPS is characterized by interference in neurons with the synthesis/activity of the inhibitory neurotransmitter gamma amino butyric acid (GABA) resulting in the prototypic progressive spasmodic muscular rigidity of SPS, or diverse neurological syndromes, cerebellar ataxia, intractable epilepsy, myoclonus and several others. Remarkably, a single autoantibody, anti-GAD, can be common to widely different disease expressions, i.e. T1D and SPS. One explanation for these data is the differences in epitope engagement between the anti-GAD reactivity in SPS and T1D: in both diseases, anti-GAD antibody reactivity is predominantly to a conformational epitope region in the PLP- and C-terminal domains of the 65 kDa isoform but, additionally in SPS, there is reactivity to conformational epitope(s) on GAD67, and short linear epitopes in the C-terminal region and at the N-terminus of GAD65. Another explanation for disease expressions in SPS includes ready access of anti-GAD to antigen sites due to immune responsiveness within the CNS itself according to intrathecal anti-GAD-specific B cells and autoantibody. Closer study of the mysterious stiff-person syndrome should enhance the understanding of this disease itself, and autoimmunity in general. PMID:21680149

  17. Metabolic Syndrome in Italian Obese Children and Adolescents: Stronger Association with Central Fat Depot than with Insulin Sensitivity and Birth Weight

    Directory of Open Access Journals (Sweden)

    Claudia Brufani

    2011-01-01

    Full Text Available Aim. To evaluate whether body fat distribution, birth weight, and family history for diabetes (FHD were associated with metabolic syndrome (MetS in children and adolescents. Methods. A total of 439 Italian obese children and adolescents (5–18 years were enrolled. Subjects were divided into 2 groups: prepubertal and pubertal. MetS was diagnosed according to the adapted National Cholesterol Education Program criteria. Birth weight percentile, central obesity index (measured by dual-energy X-ray absorptiometry, insulin sensitivity (ISI, and disposition index were evaluated. Multivariate logistic regression models were used to determine variables associated with MetS. Results. The prevalence of MetS was 17%, with higher percentage in adolescents than in children (21 versus 12%. In the overall population, central obesity index was a stronger predictor of MetS than insulin sensitivity and low birth weight. When the two groups were considered, central fat depot remained the strongest predictor of MetS, with ISI similarly influencing the probability of MetS in the two groups and birth weight being negatively associated to MetS only in pubertal individuals. Neither FHD nor degree of fatness was a significant predictor of MetS. Conclusion. Simple clinical parameters like increased abdominal adiposity and low birth weight could be useful tools to identify European obese adolescents at risk for metabolic complications.

  18. Trombose de veia central da retina bilateral associada à síndrome de hiperviscosidade sanguínea: relato de caso Bilateral central retinal vein occlusion associated with blood hyperviscosity syndrome: case report

    Directory of Open Access Journals (Sweden)

    John Helal Jr

    2005-02-01

    Full Text Available Relato de caso de um paciente masculino de 16 anos de idade com queixa inicial de baixa da acuidade visual e que no exame oftalmológico foi encontrado edema de papila bilateral, que evoluiu para trombose da veia central da retina em ambos os olhos. Na investigação laboratorial, foi feito diagnóstico de um mieloma múltiplo tipo IgA que cursava com síndrome de hiperviscosidade sanguínea, o que explicava o quadro oftalmológico. Após tratamento específico, o paciente apresentou melhora tanto da acuidade visual quanto do aspecto fundoscópico. O achado de oclusão de veia central da retina bilateral pode levar ao diagnóstico de importantes doenças sistêmicas. os achados fundoscópicos podem servir de parâmetro na avaliação do tratamento.The authors report the case of a 16-year-old male patient who presented with blurred vision and bilateral optic disc edema, then developing bilateral central retinal vein occlusion. On laboratory work-up, he was found to have multiple myeloma IgA along with hyperviscosity syndrome, which led to the ophthalmological features. After proper treatment, the patient recovered visual acuity and normalized his eye fundus changes. Bilateral central retinal vein occlusion finding may yield the diagnosis of major systemic diseases. Fundoscopic features may serve as parameters on treatment evaluation.

  19. Sleep apnea syndrome: central sleep apnea and pulmonary hypertension worsened during treatment with auto-CPAP, but improved by adaptive servo-ventilation.

    Science.gov (United States)

    Ono, Hiroshi; Fujimoto, Hiroyuki; Kobayashi, Yoshinori; Kudoh, Shoji; Gemma, Akihiko

    2010-01-01

    In this 71-year-old man diagnosed as obstructive sleep apnea syndrome initially, the apnea-hypopnea index in polysomnography was 31.3/hour. He started auto-adjusted continuous positive airway pressure (auto-CPAP) treatment in July 2005 but developed congestive heart failure in December 2007. Pulmonary arterial pressure (PAP), estimated by echocardiography, was 71 mmHg. In January 2008, during simplified sleep examination with a breath-movement sensor under auto-CPAP, many central-type apneas were recognized. After replacing auto-CPAP with adaptive servo-ventilation (ASV), the apnea-hypopnea index was 5.3/hour and PAP became 36 mmHg after 3 months. It was thought that the increase of PAP was due to long-term inadequate use of auto-CPAP.

  20. Unified-planning, graded-administration, and centralized-controlling: a management modality for treating acquired immune deficiency syndrome with Chinese medicine in Henan Province of China.

    Science.gov (United States)

    Xu, Li-Ran; Guo, Hui-jun; Liu, Zhi-bin; Li, Qiang; Yang, Ji-ping; He, Ying

    2015-04-01

    Henan Province in China has a major epidemic of human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS). Chinese medicine (CM) has been used throughout the last decade, and a management modality was developed, which can be described by unified-planning, graded-administration, and centralized-controlling (UGC). The UGC modality has one primary concept (patient-centered medicine from CM theory), four basic foundations (classifying administrative region, characteristics of CM on disease treatment, health resource conditions, and distribution of patients living with HIV), six important relationships (the "three uniformities and three combinations," and the six relationships therein guide the treatment of AIDS with CM), and four key sections (management, operation, records, and evaluation). In this article, the authors introduce the UGC modality, which could be beneficial to developing countries or resource-limited areas for the management of chronic infectious disease. PMID:25877652

  1. Unified-planning, graded-administration, and centralized-controlling: a management modality for treating acquired immune deficiency syndrome with Chinese medicine in Henan Province of China.

    Science.gov (United States)

    Xu, Li-Ran; Guo, Hui-jun; Liu, Zhi-bin; Li, Qiang; Yang, Ji-ping; He, Ying

    2015-04-01

    Henan Province in China has a major epidemic of human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS). Chinese medicine (CM) has been used throughout the last decade, and a management modality was developed, which can be described by unified-planning, graded-administration, and centralized-controlling (UGC). The UGC modality has one primary concept (patient-centered medicine from CM theory), four basic foundations (classifying administrative region, characteristics of CM on disease treatment, health resource conditions, and distribution of patients living with HIV), six important relationships (the "three uniformities and three combinations," and the six relationships therein guide the treatment of AIDS with CM), and four key sections (management, operation, records, and evaluation). In this article, the authors introduce the UGC modality, which could be beneficial to developing countries or resource-limited areas for the management of chronic infectious disease.

  2. Immune reconstitution inflammatory syndrome involving the central nervous system in a patient with HIV infection: a case report and review of literature.

    Science.gov (United States)

    Zaffiri, Lorenzo; Verma, Rajanshu; Struzzieri, Kevin; Monterroso, Joanne; Batts, Donald H; Loehrke, Mark E

    2013-01-01

    IRIS is described as a paradoxical deterioration of clinical status upon initiation of combined anti-retroviral therapy (cART) in patients with HIV infection. Immune reconstitution inflammatory syndrome (CNS-IRIS) involving the central nervous system is rarely reported. We describe the case of 57-year-old man who developed a fatal case of CNS- IRIS. A rapid deterioration of neurological status was associated with progression of patchy T2-weighted hyperintensities involving different vascular territories on brain MRI. Diagnosis of CNS-IRIS is based of laboratory and radiologic findings, however brain biopsy is supportive. Despite immune restoration being involved in clinical deterioration, discontinuation of cART is not recommended. The use of corticosteroids is highly controversial. Prompt recognition of CNS-IRIS is crucial for preventing neurological complications and ensuing sequelae. PMID:23435821

  3. [Case of neuromyelitis optica spectrum disorder associated with central pontine and extrapontine myelinolysis preceded by syndrome of inappropriate antidiuretic hormone secretion].

    Science.gov (United States)

    Sakai, Waka; Matsui, Naoko; Fujita, Koji; Izumi, Yuishin; Nishida, Yoshihiko; Takahashi, Toshiyuki; Kanbayashi, Takashi; Kaji, Ryuji

    2014-01-01

    A 36-year-old woman complained of general malaise. She presented with hyponatremia and plasma osmotic pressure was lower than urinary osmotic pressure. In addition, serum antidiuretic hormone level was higher than the measurement sensitivity. She was diagnosed with the syndrome of inappropriate antidiuretic hormone secretion (SIADH). She fell into a coma despite correction of serum sodium level. Brain magnetic resonance imaging (MRI) revealed high signal intensities in the cerebral cortex, striatum, thalamus, hypothalamus, midbrain, and pons in fluid-attenuated inversion recovery images. Spinal MRI revealed a longitudinally extending lesion in the cervical cord. Serum sample was positive for anti-aquaporin-4 antibody, supporting the diagnosis of neuromyelitis optica spectrum disorder (NMOSD) combined with central pontine and extrapontine myelinolysis. In patients with NMOSD, the immune reaction can gradually cause destructive changes of the hypothalamus and lead to unstable ADH secretion in the absence of immunomodulatory treatment. PMID:25087556

  4. Central nervous determination of food storage--a daily switch from conservation to expenditure: implications for the metabolic syndrome.

    Science.gov (United States)

    Kreier, Felix; Kalsbeek, Andries; Ruiter, Marieke; Yilmaz, Ajda; Romijn, Johannes A; Sauerwein, Hans P; Fliers, Eric; Buijs, Ruud M

    2003-11-01

    Here, we present a neuroendocrine concept to review the circularly interacting energy homeostasis system between brain and body. Body-brain interaction is circular because the brain immediately integrates an input to an output, and because part of this response may be that the brain modulates the sensitivity of this perception. First, we describe how the brain senses the body through neurons and blood-borne factors. Direct neuronal connections report the state of various organs. In addition, humoral factors are perceived by the blood-brain barrier and circumventricular organs. We describe how circulating energy carriers are sensed and what signals reach the brain during food intake, exercise and an immune response. We describe that the brain regulates the homeostatic process at two fundamentally different levels during the active and inactive states. The unbalanced output of the brain in the metabolic syndrome is discussed in relation with such circadian rhythms and with regional activity of the autonomic nervous system. In line with the above, we suggest a new approach for the diagnosis and therapy of the metabolic syndrome.

  5. Moderate voluntary exercise attenuates the metabolic syndrome in melanocortin-4 receptor-deficient rats showing central dopaminergic dysregulation

    Directory of Open Access Journals (Sweden)

    Silvana Obici

    2015-10-01

    Conclusions: Central dopamine dysregulation during VWR reinforces the link between MC4R function and molecular and behavioral responding to rewards. The data also suggest that exercise can be a successful lifestyle intervention in MC4R-haploinsufficient individuals despite reduced positive reinforcement during exercise training.

  6. [Bilateral diaphragmatic paralysis due to Parsonage-Turner syndrome].

    Science.gov (United States)

    Tissier-Ducamp, D; Martinez, S; Alagha, K; Charpin, D; Chanez, P; Palot, A

    2015-09-01

    We report the case of a 49-years-old patient who presented to the accident and emergency department with sudden onset dyspnea associated with acute shoulder pain. He was breathless at rest with supine hypoxemia. He had an amyotrophic left shoulder with localized paresis of the shoulder. Both hemi-diaphragms were elevated on chest X-rays. Pulmonary function tests showed a restrictive pattern and both phrenic nerve conduction velocities were decreased. At night, alveolar hypoventilation was evidenced by elevated mean capnography (PtcCO2: 57mmHg). Neuralgic amyotrophy, Parsonage-Turner syndrome was the final diagnosis. This syndrome is a brachial plexus neuritis with a predilection for the suprascapular and axillary nerves. Phrenic nerve involvement is rare but where present can be the most prominent clinical feature as in our case report.

  7. [Bilateral diaphragmatic paralysis due to Parsonage-Turner syndrome].

    Science.gov (United States)

    Tissier-Ducamp, D; Martinez, S; Alagha, K; Charpin, D; Chanez, P; Palot, A

    2015-09-01

    We report the case of a 49-years-old patient who presented to the accident and emergency department with sudden onset dyspnea associated with acute shoulder pain. He was breathless at rest with supine hypoxemia. He had an amyotrophic left shoulder with localized paresis of the shoulder. Both hemi-diaphragms were elevated on chest X-rays. Pulmonary function tests showed a restrictive pattern and both phrenic nerve conduction velocities were decreased. At night, alveolar hypoventilation was evidenced by elevated mean capnography (PtcCO2: 57mmHg). Neuralgic amyotrophy, Parsonage-Turner syndrome was the final diagnosis. This syndrome is a brachial plexus neuritis with a predilection for the suprascapular and axillary nerves. Phrenic nerve involvement is rare but where present can be the most prominent clinical feature as in our case report. PMID:25534571

  8. Central leptin insufficiency syndrome: an interactive etiology for obesity, metabolic and neural diseases and for designing new therapeutic interventions

    OpenAIRE

    Kalra, Satya P.

    2007-01-01

    This review critically reappraises recent scientific evidence concerning central leptin insufficiency versus leptin resistance formulations to explain metabolic and neural disorders resulting from subnormal or defective leptin signaling in various sites in the brain. Research at various fronts to unravel the complexities of the neurobiology of leptin is surveyed to provide a comprehensive account of the neural and metabolic effects of environmentally-imposed fluctuations in leptin availabilit...

  9. The acute radiation syndrome

    International Nuclear Information System (INIS)

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

  10. [Pathology of the internal organs and central nervous system in acquired immunodeficiency syndrome (with special reference to opportunistic infections)].

    Science.gov (United States)

    Masini, T; Chinaglia, D; Riviera, L; Capricci, E; Gullotta, F; Spigolon, G; Bauer, A L

    1990-01-01

    Extracerebral and cerebral pathology in AIDS (with particular emphasis on the opportunistic infections). The Authors present the extracerebral pathology of 27 cases of AIDS observed at the Department of Pathology of Milan and the cerebral pathology of 80 cases of AIDS collected by three Institutes (Department of Pathology of Milan, Department of Pathology of Rimini and Department of Neuropathology of Münster) with particular emphasis on the pathology of the opportunistic infections. In the adults' group, the most frequent infections are the protozoan ones (T. gondii) followed with equal incidence by the viral and fungal diseases. In the pediatric group the viral diseases are the most frequently seen. Almost all of the adults show multiple infections in the same organ or in different organs. Diffuse lesions with heavy pathologic fields were observed also without tissue reaction. As to cerebral pathology AIDS' patients with opportunistic infections show focal symptoms, whereas the so called "subacute microglial encephalitis" generally appears as a demential syndrome. In cases with progressive multifocal leukoencephalopathy JC virus was always found and in one case also SV 40 - and BK virus. The diffuse demyelinization in some cases of HIV-Encephalopathy is aspecific. In HIV-positive newborns with cerebral signs, the lesions are characterized by oedema, spongiosis and microcalcifications of the basal ganglia; these are aspecific lesions which can be found in toxic and infectious encephalopathies.

  11. Long-lasting beneficial effects of central serotonin receptor 7 stimulation in female mice modeling Rett syndrome

    Directory of Open Access Journals (Sweden)

    Bianca eDe Filippis

    2015-04-01

    Full Text Available Rett syndrome (RTT is a rare neurodevelopmental disorder, characterized by severe behavioral and physiological symptoms. Mutations in the methyl CpG binding protein 2 gene (MECP2 cause more than 95% of classic cases, and currently there is no cure for this devastating disorder. Recently we have demonstrated that specific behavioral and brain molecular alterations can be rescued in MeCP2-308 male mice, a RTT mouse model, by pharmacological stimulation of the brain serotonin receptor 7 (5-HT7R. This member of the serotonin receptor family – crucially involved in the regulation of brain structural plasticity and cognitive processes – can be stimulated by systemic repeated treatment with LP-211, a brain-penetrant selective 5-HT7R agonist. The present study extends previous findings by demonstrating that the LP-211 treatment (0.25 mg/kg, once per day for 7 days rescues RTT-related phenotypic alterations, motor coordination (Dowel test, spatial reference memory (Barnes maze test and synaptic plasticity (hippocampal long-term-potentiation in MeCP2-308 heterozygous female mice, the genetic and hormonal milieu that resembles that of RTT patients. LP-211 also restores the activation of the ribosomal protein S6, the downstream target of mTOR and S6 kinase, in the hippocampus of RTT female mice. Notably, the beneficial effects on neurobehavioral and molecular parameters of a seven-day long treatment with LP-211 were evident up to two months after the last injection, thus suggesting long-lasting effects on RTT-related impairments. Taken together with our previous study, these results provide compelling preclinical evidence of the potential therapeutic value for RTT of a pharmacological approach targeting the brain 5-HT7R.

  12. Long-lasting beneficial effects of central serotonin receptor 7 stimulation in female mice modeling Rett syndrome.

    Science.gov (United States)

    De Filippis, Bianca; Chiodi, Valentina; Adriani, Walter; Lacivita, Enza; Mallozzi, Cinzia; Leopoldo, Marcello; Domenici, Maria Rosaria; Fuso, Andrea; Laviola, Giovanni

    2015-01-01

    Rett syndrome (RTT) is a rare neurodevelopmental disorder, characterized by severe behavioral and physiological symptoms. Mutations in the methyl CpG binding protein 2 gene (MECP2) cause more than 95% of classic cases, and currently there is no cure for this devastating disorder. Recently we have demonstrated that specific behavioral and brain molecular alterations can be rescued in MeCP2-308 male mice, a RTT mouse model, by pharmacological stimulation of the brain serotonin receptor 7 (5-HT7R). This member of the serotonin receptor family-crucially involved in the regulation of brain structural plasticity and cognitive processes-can be stimulated by systemic repeated treatment with LP-211, a brain-penetrant selective 5-HT7R agonist. The present study extends previous findings by demonstrating that the LP-211 treatment (0.25 mg/kg, once per day for 7 days) rescues RTT-related phenotypic alterations, motor coordination (Dowel test), spatial reference memory (Barnes maze test) and synaptic plasticity (hippocampal long-term-potentiation) in MeCP2-308 heterozygous female mice, the genetic and hormonal milieu that resembles that of RTT patients. LP-211 also restores the activation of the ribosomal protein (rp) S6, the downstream target of mTOR and S6 kinase, in the hippocampus of RTT female mice. Notably, the beneficial effects on neurobehavioral and molecular parameters of a seven-day long treatment with LP-211 were evident up to 2 months after the last injection, thus suggesting long-lasting effects on RTT-related impairments. Taken together with our previous study, these results provide compelling preclinical evidence of the potential therapeutic value for RTT of a pharmacological approach targeting the brain 5-HT7R.

  13. Development of central nervous system autoimmunity is impaired in the absence of Wiskott-Aldrich syndrome protein.

    Directory of Open Access Journals (Sweden)

    Marita Bosticardo

    Full Text Available Wiskott-Aldrich Syndrome protein (WASP is a key regulator of the actin cytoskeleton in hematopoietic cells. Defective expression of WASP leads to multiple abnormalities in different hematopoietic cells. Despite severe impairment of T cell function, WAS patients exhibit a high prevalence of autoimmune disorders. We attempted to induce EAE, an animal model of organ-specific autoimmunity affecting the CNS that mimics human MS, in Was(-/- mice. We describe here that Was(-/- mice are markedly resistant against EAE, showing lower incidence and milder score, reduced CNS inflammation and demyelination as compared to WT mice. Microglia was only poorly activated in Was(-/- mice. Antigen-induced T-cell proliferation, Th-1 and -17 cytokine production and integrin-dependent adhesion were increased in Was(-/- mice. However, adoptive transfer of MOG-activated T cells from Was(-/- mice in WT mice failed to induce EAE. Was(-/- mice were resistant against EAE also when induced by adoptive transfer of MOG-activated T cells from WT mice. Was(+/- heterozygous mice developed an intermediate clinical phenotype between WT and Was(-/- mice, and they displayed a mixed population of WASP-positive and -negative T cells in the periphery but not in their CNS parenchyma, where the large majority of inflammatory cells expressed WASP. In conclusion, in absence of WASP, T-cell responses against a CNS autoantigen are increased, but the ability of autoreactive T cells to induce CNS autoimmunity is impaired, most probably because of an inefficient T-cell transmigration into the CNS and defective CNS resident microglial function.

  14. Effets de l'inhibition du système sympathique central sur les paramètres métaboliques et microcirculatoires chez les rats obèses avec syndrome métabolique

    OpenAIRE

    Nascimento, Alessandro

    2013-01-01

    Cardiovascular and metabolic risk factors that characterize the metabolic syndrome (MS), including high blood pressure, obesity and glucose intolerance, are accompanied by sympathetic hyperactivity. In this study, we investigated the effects of a chronic oral antihypertensive treatment using centrally-acting sympatho-inhibitory drugs on the metabolic and microvascular parameters in rats under long-term high-fat diet with salt supplementation. For that, fifty male adult Wistar rats were mainta...

  15. Central neurobiological mechanism of liver depression and spleen deficiency syndrome based on chronic stress: a review%从慢性应激探讨肝郁脾虚证的中枢神经生物学机制

    Institute of Scientific and Technical Information of China (English)

    李晓红; 李晶晶; 刘玥芸; 陈家旭

    2012-01-01

    Some researchers focus on research of the nature of syndromes. The methods of combining traditional Chinese medicine syndrome and diseases and the correspondence between formulas and syndromes may be used in research of the nature of syndromes. According to combined theories of zang-organ state and seven emotions in traditional Chinese medicine with stress theory in modern medicine, the authors applied the methods of chronic immobilization stress to induce liver depression and spleen deficiency syndrome in rats based on the thinking of relativity on formula and syndrome. The research showed that the central neurobiology mechanism of liver depression and spleen deficiency syndrome closely correlates to the hypo-thalamic-pituitary-adrenal axis, brain-gut axis, myriad central neurotrophic factors, neurotransmitters, neuropep-tides and hormones and their receptors, involving in many encephalic regions such as the hypothalamus, hippocampus, cortex, amygdale, etc. The authors will combine their previous work with multi-disciplinary research, such as genomics, proteomics, metabolomics and bioinformatics in future studies, to reveal the scientific connotations of liver depression and spleen deficiency syndrome.%证实质的研究一直是很多学者研究的重点方向,可利用中医病证结合、方证相关的研究思路来探寻证候的生物学基础.从现代应激理论入手,结合中医脏象理论和七情学说,运用中医方证相关的研究思路,通过慢性束缚应激的方法复制肝郁脾虚证大鼠模型,前期实验结果提示肝郁脾虚证的中枢神经生物学机制与下丘脑-垂体-肾上腺轴、脑肠轴以及中枢多种神经营养因子、神经递质、神经肽、激素及其受体密切相关,涉及下丘脑、海马、皮层、杏仁核等多个脑区.今后将结合基因组学、蛋白质组学、代谢组学,并与生物信息学等多学科结合,以期揭示肝郁脾虚证的科学内涵.

  16. Distribution of Traditional Chinese Medicine Syndromes in Psoriasis in Central China%华中地区银屑病中医证候分布情况研究

    Institute of Scientific and Technical Information of China (English)

    李隽; 徐丽敏; 周飞红; 姜一化; 张天柱; 李东升; 周登远

    2011-01-01

    目的 探讨华中地区银屑病中医证候的分布情况.方法 通过填写"银屑病中医证候调查表",采集500例华中地区银屑病患者中医证候四诊资料,确立中医证候,采用Epidata3.1软件包对调查资料进行录入、核查,再转换成SPSS11.5统计软件包进行统计,得出在不同性别、不同年龄组、不同病期、家族史及舌象方面的证候分布情况.结果 银屑病以血热证、血瘀证、血燥证、血热血瘀证、血热血燥证、血瘀血燥证为主要证候,不同性别、不同年龄组、不同病期、家族史及舌质的中医证候分布不同(P<0.05),在舌苔中差异无统计学意义(P>0.05).结论 本研究进一步验证了对"血"的辨证应是银屑病的主要辨证方法,中医证候在不同性别、不同年龄组、不同病情分期、有无家族史及舌质方面分布不同,而在舌苔方面差异无统计学意义.%Objective To explore distribution of traditional chinese medicine(TCM) syndromes in psoriasis in central China.Methods By completing "Questionnaires syndromes of traditional Chinese medicine (TCM) with psoriasis", 500 cases of patients with psoriasis in Huazhong area of TCM syndrome the four diagnostic material were collected and established syndromes.Epidata3.1 package was used to survey data entry and check. And then SPSS11.5 software package was used to statistics, concluded with different gender, different age groups, different disease period, family history and tongue presence of syndromes distribution.Results The main syndrome including blood-heat syndrome, blood-stasis syndrome, blood-dryness syndrome, syndrome of blood stasis and heat, syndrome of blood heat and dryness as well as syndrome of blood stasis and dryness. Distribution of TCM syndrome was different in different gender, different age groups, different disease period, family history and tongue qualitative (P< 0.05). TCM syndrome in tongue coating had no statistical significant (P> 0

  17. Effect of electroacupuncture on P2X3 receptor regulation in the peripheral and central nervous systems of rats with visceral pain caused by irritable bowel syndrome.

    Science.gov (United States)

    Weng, Z J; Wu, L Y; Zhou, C L; Dou, C Z; Shi, Y; Liu, H R; Wu, H G

    2015-09-01

    The aim of this study is to investigate the role of the purinergic receptor P2X3 in the peripheral and central nervous systems during acupuncture treatment for the visceral pain of irritable bowel syndrome (IBS). A total of 24 8-day-old Sprague-Dawley (SD) neonatal male rats (SPF grade) were stimulated using colorectal distention (CRD) when the rats were awake. The modeling lasted for 2 weeks with one stimulation per day. After 6 weeks, the rats were randomly divided into three groups of eight each: (1) the normal group (NG, n = 8); (2) the model group (MG, n = 8); and (3) the model + electroacupuncture group (EA, n = 8) that received electroacupuncture at a needling depth of 5 mm at the Shangjuxu (ST37, bilateral) and Tianshu (ST25, bilateral) acupoints. The parameters of the Han's acupoint nerve stimulator (HANS) were as follows: sparse-dense wave with a frequency of 2/100 Hz, current of 2 mA, 20 min/stimulation, and one stimulation per day; the treatment was provided for seven consecutive days. At the sixth week after the treatment, the abdominal withdrawal reflex (AWR) score was determined; immunofluorescence and immunohistochemistry were used to measure the expression of the P2X3 receptor in myenteric plexus neurons, prefrontal cortex, and anterior cingulate cortex; and, a real-time PCR assay was performed to measure the expression of P2X3 messenger RNA (mRNA) in the dorsal root ganglion (DRG) and spinal cord. After stimulation with CRD, the expression levels of the P2X3 receptor in the inter-colonic myenteric plexus, DRG, spinal cord, prefrontal cortex, and anterior cingulate cortex were upregulated, and the sensitivity of the rats to IBS visceral pain was increased. Electroacupuncture (EA) could downregulate the expression of the P2X3 receptor and ease the sensitivity to visceral pain. The P2X3 receptor plays an important role in IBS visceral pain. The different levels of P2X3 in the peripheral enteric nervous system and central nervous system mediate the

  18. Central centrifugal cicatricial alopecia

    OpenAIRE

    Collin Blattner; Dennis C Polley; Frank Ferritto; Elston, Dirk M

    2013-01-01

    Central centrifugal cicatricial alopecia is a common cause of progressive permanent apical alopecia. This unique form of alopecia includes entities previously know as “hot comb alopecia,” “follicular degeneration syndrome,” “pseudopelade” in African Americans and “central elliptical pseudopelade” in Caucasians. The etiology appears to be multifactorial and the condition occurs in all races.

  19. Antiphospholipid syndrome.

    Science.gov (United States)

    Ruiz-Irastorza, Guillermo; Crowther, Mark; Branch, Ware; Khamashta, Munther A

    2010-10-30

    The antiphospholipid syndrome causes venous, arterial, and small-vessel thrombosis; pregnancy loss; and preterm delivery for patients with severe pre-eclampsia or placental insufficiency. Other clinical manifestations are cardiac valvular disease, renal thrombotic microangiopathy, thrombocytopenia, haemolytic anaemia, and cognitive impairment. Antiphospholipid antibodies promote activation of endothelial cells, monocytes, and platelets; and overproduction of tissue factor and thromboxane A2. Complement activation might have a central pathogenetic role. Of the different antiphospholipid antibodies, lupus anticoagulant is the strongest predictor of features related to antiphospholipid syndrome. Therapy of thrombosis is based on long-term oral anticoagulation and patients with arterial events should be treated aggressively. Primary thromboprophylaxis is recommended in patients with systemic lupus erythematosus and probably in purely obstetric antiphospholipid syndrome. Obstetric care is based on combined medical-obstetric high-risk management and treatment with aspirin and heparin. Hydroxychloroquine is a potential additional treatment for this syndrome. Possible future therapies for non-pregnant patients with antiphospholipid syndrome are statins, rituximab, and new anticoagulant drugs. PMID:20822807

  20. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen

    1986-01-01

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

  1. The clinical analysis of central neurological dysfunctions in primary Sjogren's syndrome: 4 cases report%原发性干燥综合征中枢神经系统损害4例分析

    Institute of Scientific and Technical Information of China (English)

    姚晓萍; 李智文; 林仕芳

    2012-01-01

    目的 探讨原发性干燥综合征中枢神经系统损害的临床特点,以提高其早期诊断、治疗效果.方法 回顾性分析4例原发性干燥综合征中枢神经系统损害患者的临床特征、诊疗情况,并结合国内外相关文献进行分析.结果 4例患者均为女性,年龄30~52岁.3例患者中枢神经系统损害表现先于干燥综合征诊断,1例患者先诊断干燥综合征后出现中枢神经系统损害.1例患者出现脊髓损害表现,2例患者为脑实质损害表现,1例具有脊髓、脑、视神经损害表现.4例患者MR均表现为点状或小片状长T1长T2信号影.治疗上1例患者单用糖皮质激素,其余3例患者均合用免疫抑制剂,治疗后病情均好转,随访无再新发中枢神经系统损害表现.结论 对不能用其他原因解释的中枢神经系统损害,尤其是中老年女性,应警惕原发性干燥综合征的可能.重视干燥综合征症状的询问,加深对干燥综合征中枢神经系统损害临床表现的认识,进行相关检查,以提高早期诊断、治疗效果,减少患者的致残率.%Objective To explore the clinical features of central neurological dysfunctions in primary Sjogren' s syndrome , and to improve its early diagnosis and treatment. Methods Retrospective review the clinical features, diagnosis and treatment in four patients of central neurological dysfunctions in primary Sjogren s syndrome, and analyze the relative literatures. Results The four patients were female, aged from 30 years old to 52 years old. Three patients of them presented the manifestation of central nervous system damage ahead of the diagnosis of Sjogren' s syndrome. One patient with spinal cord injury , two patients with brain parenchymal damage, and one patient with spinal cord injury, brain parenchyma and optic nerve damage. All of the patients showed punctate or small pieces of long Tl, T2 signal intensity in the MR examination. In terms of treatment, one patient was treated

  2. Beals Syndrome

    Science.gov (United States)

    ... Boards & Staff Annual Report & Financials Contact Us Donate Marfan & Related Disorders What is Marfan Syndrome? What are ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of ...

  3. Intestinal endotoxemia plays a central role in development of hepatopulmonary syndrome in a cirrhotic rat model induced by multiple pathogenic factors

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    AIM: To characterize the correlation between severity of hepatopulmonary syndrome (HPS) and degree of hepatic dysfunction, and to explore how intestinal endotoxemia (IETM) affects the development of HPS in cirrhotic rats.METHODS: Male Wister rats were fed with a diet containing maize flour, lard, cholesterol, and alcohol and injected subcutaneously with CCl4 oil solution every two days for 8 wk to induce typical cirrhosis and development of HPS. The animals were also given a nitric oxide (NO) production inhibitor, Nω-nitro-L-arginine methyl ester (L-NAME) intraperitoneally, and an iNOS inhibitor, aminoguanidine hydrochloride (AG) via gavage daily from the end of the 4th wk to the end of the 6th or 8th wk, or a HO-1 inhibitor, zinc protoporphyrin (ZnPP) intraperitoneally 12 h prior to killing. Blood, liver and lung tissues were sampled.RESULTS: Histological deterioration of the lung paralleled to that of the liver in the cirrhotic rats. The number of pulmonary capillaries was progressively increased from 6.1±1.1 (count/filed) at the 4th wk to 14.5±2.4 (count/filed) at the 8th wk in the cirrhotic rats. Increased pulmonary capillaries were associated with increased blood levels of lipopolysaccharide (LPS) (0.31±0.08 EU/mL vs control 0.09±0.03 EU/mL),alanine transferase (ALT, 219.1±17.4 U/L vs control 5.9±2.2 U/L) and portal vein pressure. Compared with normal control animals, the number of total cells in bronchoalveolar lavage fluid (BALF) of the cirrhotic rats at the 8th wk was not changed, but the number of macrophages and the ratio of macrophages to total cells were increased by nearly 2-fold, protein expression of inducible nitric oxide synthase (iNOS) and endothelial nitric oxide synthase (eNOS) started to increase significantly at the 4th wk, and reached its peak at the 8th wk in the lung of cirrhotic rats. The increase of iNOS expression appeared to be quicker than that of eNOS.NO2-/NO3-was also increased, which was correlated to the increase of iNOS (r

  4. Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice

    NARCIS (Netherlands)

    Hunsaker, M.R.; Greco, C.M.; Spath, M.A.; Smits, A.P.T.; Navarro, C.S.; Tassone, F.; Kros, J.M.; Severijnen, L.A.; Berry-Kravis, E.M.; Berman, R.F.; Hagerman, P.J.; Willemsen, R.; Hagerman, R.J.; Hukema, R.K.

    2011-01-01

    Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder generally presenting with intention tremor and gait ataxia, but with a growing list of co-morbid medical conditions including hypothyroidism, hypertension, peripheral neuropathy, and cognitive decline. T

  5. Auriculotemporal Syndrome (Frey Syndrome).

    Science.gov (United States)

    Motz, Kevin M; Kim, Young J

    2016-04-01

    Frey syndrome is a common sequela of parotidectomy, and although it is not frequently manifested clinically, it can cause significant morbidity for those affected. Frey syndrome results from synkinetic autonomic reinnervation by transected postganglionic parasympathetic nerve fiber within the parotid gland to the overlying sweat glands of the skin. Many surgical techniques have been proposed to prevent the development of Frey syndrome. For those who develop clinical symptoms of Frey syndrome, objective testing can be performed with a Minor starch-iodine test. Some of the current methods to prevent and treat symptomatic Frey syndrome are reviewed. PMID:26902982

  6. Diagnosis and treatment of pulmonary hypertension caused by sleep hypoventilation: analysis of 4 cases in a family%睡眠低通气致肺动脉高压一家系四例临床分析

    Institute of Scientific and Technical Information of China (English)

    周敏; 崔小川; 钱秀芬; 袁民宇; 朱建荣; 陆明华; 陈志萍

    2008-01-01

    Objective To summarize the experience in diagnosis and treatment of pulmonary hypertension caused by sleep hypoventilation. Methods The clinical data of 4 patients in a family with pulmonary hypertension caused by sleep hypoventilation, full brothers and sisters, 2 (Cases 1 and 2) being treated presently and 2 (Cases 3 and 4) being deceased and traced by family medical history, were retrospectively analyzed. Results Three of the 4 cases (cases 1, 3, and 4) were misdiagnosed as with cor pulmonale combined with pulmonary hypertension, and one case (case 2) was misdiagnosed as with primary pulmonary hypertension. Polysomnography (PSG) revealed alveolar hypoventilation-indueed long period of oxygen desaturation at sleep in Cases 1 and 2, thus confirming the diagnosis. Pulmonary function test showed that the percentage of maximum inspiratory pressure (PImax) in predicted value (51.5% and 20. 9%) and the maximum expiratory pressure (PEmax) in predicted value (51.3% and 29. 6%) decreased, the percentage of mouth occlusion pressure (PO. 1) in predicted value (141% and 133%) compensatively increased, and the respiratory muscle strength decreased in Cases 1 and 2, which suggested that there was neuromuscular disorder in these patients. Treated by noninvasive ventilation the symptoms of these 2 patients were improved and they were discharge at last. Subsequently, they were treated by long-term night noninvasive ventilation at home, and returned to normal work and life. During the follow-up for 22 and 12 months respectively after discharge, PSG showed that the alveolar hypoventilation-induced long period oxygen desataration at sleep had been greatly improved, and echocardiogram showed that the pulmonary pressure was greatly decreased. Conclusion For the patients with unexplained pulmonary hypertension, PSG monitoring and pulmonary function tests such as Plmax, PEmax, and P0. 1 help determine the etiology, and long-term night noninvasive ventilation at home can improve the

  7. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

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

  8. Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

    Science.gov (United States)

    Tarpey, Patrick S; Raymond, F Lucy; O'Meara, Sarah; Edkins, Sarah; Teague, Jon; Butler, Adam; Dicks, Ed; Stevens, Claire; Tofts, Calli; Avis, Tim; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Gray, Kristian; Halliday, Kelly; Harrison, Rachel; Hills, Katy; Jenkinson, Andrew; Jones, David; Menzies, Andrew; Mironenko, Tatiana; Perry, Janet; Raine, Keiran; Richardson, David; Shepherd, Rebecca; Small, Alexandra; Varian, Jennifer; West, Sofie; Widaa, Sara; Mallya, Uma; Moon, Jenny; Luo, Ying; Holder, Susan; Smithson, Sarah F; Hurst, Jane A; Clayton-Smith, Jill; Kerr, Bronwyn; Boyle, Jackie; Shaw, Marie; Vandeleur, Lucianne; Rodriguez, Jayson; Slaugh, Rachel; Easton, Douglas F; Wooster, Richard; Bobrow, Martin; Srivastava, Anand K; Stevenson, Roger E; Schwartz, Charles E; Turner, Gillian; Gecz, Jozef; Futreal, P Andrew; Stratton, Michael R; Partington, Michael

    2007-02-01

    We have identified three truncating, two splice-site, and three missense variants at conserved amino acids in the CUL4B gene on Xq24 in 8 of 250 families with X-linked mental retardation (XLMR). During affected subjects' adolescence, a syndrome emerged with delayed puberty, hypogonadism, relative macrocephaly, moderate short stature, central obesity, unprovoked aggressive outbursts, fine intention tremor, pes cavus, and abnormalities of the toes. This syndrome was first described by Cazebas et al., in a family that was included in our study and that carried a CUL4B missense variant. CUL4B is a ubiquitin E3 ligase subunit implicated in the regulation of several biological processes, and CUL4B is the first XLMR gene that encodes an E3 ubiquitin ligase. The relatively high frequency of CUL4B mutations in this series indicates that it is one of the most commonly mutated genes underlying XLMR and suggests that its introduction into clinical diagnostics should be a high priority. PMID:17236139

  9. High-fat simple carbohydrate feeding impairs central and peripheral monoamine metabolic pathway triggering the onset of metabolic syndrome in C57Bl/6J mice

    Directory of Open Access Journals (Sweden)

    Serena S D'Souza

    2016-01-01

    Conclusion: HFSC diet impairs the central and peripheral dopaminergic and noradrenergic pathways in mice as evidenced by the disturbances in their hypothalamic, plasma, and urine levels and this might be one of the early factors contributing towards the development of the MetS.

  10. Gorlin syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Patil K

    2005-01-01

    Full Text Available Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.

  11. Genetics Home Reference: Noonan syndrome

    Science.gov (United States)

    ... article on PubMed Central Rohrer T. Noonan syndrome: introduction and basic clinical features. Horm Res. 2009 Dec; ... Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA ...

  12. Bi Syndrome (Arthralgia Syndrome)

    Institute of Scientific and Technical Information of China (English)

    ZHANG En-qin

    2010-01-01

    @@ The word 'Bi' (痹) in Chinese means an obstruction.Bi Syndrome refers the syndrome characterized by the obstruction of qi and blood in the meridians due to the invasion of external pathogenic wind, cold and dampness, manifested as soreness, pain, numbness,heavy sensation, swelling of joints and limbs, limitation of movements and so on.

  13. Dental approach to craniofacial syndromes

    DEFF Research Database (Denmark)

    Kjær, Inger

    2012-01-01

    is essential for insight into craniofacial syndromes. The dentition, thus, becomes central in diagnostics and evaluation of the pathogenesis. Developmental fields can explore and advance the concept of dental approaches to craniofacial syndromes. Discussion. As deviations in teeth persist and do not reorganize...

  14. Atypical presentations of Wolframs syndrome

    Directory of Open Access Journals (Sweden)

    S Saran

    2012-01-01

    Full Text Available Background: Wolfram syndrome is a rare hereditary or sporadic neurodegenerative disorder also known as DIDMOAD. The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, central diabetes insipidus, and sensory neural deafness. Also included are less well-described presentations of Wolframs syndrome. We here present three cases of atypical presentation of this syndrome. Case 1: A 15-year-old boy with insulin-dependent diabetes was presented for evaluation of depressive symptoms associated with suicidal tendency. Neuropsychiatric manifestations are described with Wolframs syndrome, and wolframin gene, in recessive inheritance, is associated with psychiatric illnesses without other manifestations of Wolframs syndrome. Case 2: A 17-year-old diabetic boy on insulin with good control of blood sugar presented for evaluation of delayed puberty. Central hypogonadism and other anterior pituitary hormone dysfunctions are the less publicized hormone dysfunctions in Wolframs syndrome. Case 3: A 23-year-old female who was on insulin for diabetes for the past 14 years, got admitted for evaluation of sudden loss of vision. This patient had developed a vitreous hemorrhage and, on evaluation, was found to have optic atrophy, sensory neural hearing loss, and diabetes insipidus, and presented differently from the gradual loss of vision described in Wolframs syndrome. Conclusion: Wolframs syndrome being a multisystem degenerative disorder can have myriad other manifestations than the classically described features. Neuropsychiatric manifestations, depression with suicidal risk, central hypogonadism, and secondary adrenal insufficiency are among the less well-described manifestations of this syndrome.

  15. Peripheral nerve hyperexcitability syndromes.

    Science.gov (United States)

    Küçükali, Cem Ismail; Kürtüncü, Murat; Akçay, Halil İbrahim; Tüzün, Erdem; Öge, Ali Emre

    2015-01-01

    Peripheral nerve hyperexcitability (PNH) syndromes can be subclassified as primary and secondary. The main primary PNH syndromes are neuromyotonia, cramp-fasciculation syndrome (CFS), and Morvan's syndrome, which cause widespread symptoms and signs without the association of an evident peripheral nerve disease. Their major symptoms are muscle twitching and stiffness, which differ only in severity between neuromyotonia and CFS. Cramps, pseudomyotonia, hyperhidrosis, and some other autonomic abnormalities, as well as mild positive sensory phenomena, can be seen in several patients. Symptoms reflecting the involvement of the central nervous system occur in Morvan's syndrome. Secondary PNH syndromes are generally seen in patients with focal or diffuse diseases affecting the peripheral nervous system. The PNH-related symptoms and signs are generally found incidentally during clinical or electrodiagnostic examinations. The electrophysiological findings that are very useful in the diagnosis of PNH are myokymic and neuromyotonic discharges in needle electromyography along with some additional indicators of increased nerve fiber excitability. Based on clinicopathological and etiological associations, PNH syndromes can also be classified as immune mediated, genetic, and those caused by other miscellaneous factors. There has been an increasing awareness on the role of voltage-gated potassium channel complex autoimmunity in primary PNH pathogenesis. Then again, a long list of toxic compounds and genetic factors has also been implicated in development of PNH. The management of primary PNH syndromes comprises symptomatic treatment with anticonvulsant drugs, immune modulation if necessary, and treatment of possible associated dysimmune and/or malignant conditions. PMID:25719304

  16. Chiari 1 malformation presenting as central sleep apnea during pregnancy: a case report, treatment considerations, and review of the literature

    Directory of Open Access Journals (Sweden)

    Erik K. St. Louis

    2014-10-01

    Full Text Available Purpose: Chiari malformation (CM type 1 frequently causes obstructive or central sleep-disordered breathing (SDB in both adults and children, although SDB is relatively rare as a presenting manifestation in the absence of other neurological symptoms. The definitive treatment of symptomatic CM is surgical decompression. We report a case that is, to our knowledge, a novel manifestation of central sleep apnea (CSA due to CM type 1 with severe exacerbation and initial clinical presentation during pregnancy.Methods: Case report from tertiary care comprehensive sleep medicine center with literature review of sleep-disordered breathing manifestations associated with CM type 1. PubMed search was conducted between January 1982 and October 2013. Results: We report a 25-year-old woman with severe central sleep apnea initially presenting during her first pregnancy that eventually proved to be caused by CM type 1. The patient was successfully treated preoperatively by adaptive servoventilation (ASV, with effective resolution of sleep-disordered breathing following surgical decompression, and without recurrence in a subsequent pregnancy.Our literature review found that 58% of CM patients with SDB had OSA alone, 28% had CSA alone, 8 (10% had mixed OSA/CSA, and 6 (8% had hypoventilation. Of CM patients presenting with SDB, 50% had OSA, 42% had CSA, 8% had mixed OSA/CSA, and 10.4% had hypoventilation. We speculate that CSA may develop in CM patients in whom brainstem compression results in excessive central chemoreflex sensitivity with consequent hypocapnic CSA.Conclusions: CM type 1 may present with a diversity of SDB manifestations, and timely recognition and surgical referral are necessary to prevent further neurological deficits. ASV therapy can effectively manage CSA caused by CM type 1, which may initially present during pregnancy.

  17. Primary sleep apnoea syndrome.

    OpenAIRE

    Chokroverty, S.; Sharp, J T

    1981-01-01

    Polygraphic study in 18 men with the sleep apnoea syndrome showed central, upper airway obstructive, and mixed apnoeas. Fifty per cent of the total apnoea time was central, 33% was obstructive, and 17% was mixed. Apnoeic episodes were accompanied by oxygen desaturation, relative bradycardia and hypotonia of orofacial muscles innervated by ponto-medullary neurons. During regular breathing these muscles revealed tonic and phasic inspiratory EMG activities. The data suggest that the primary slee...

  18. Marfan Syndrome

    Science.gov (United States)

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

  19. The central role of vascular extracellular matrix and basement membrane remodeling in metabolic syndrome and type 2 diabetes: the matrix preloaded

    Directory of Open Access Journals (Sweden)

    Tyagi Suresh C

    2005-06-01

    Full Text Available Abstract The vascular endothelial basement membrane and extra cellular matrix is a compilation of different macromolecules organized by physical entanglements, opposing ionic charges, chemical covalent bonding, and cross-linking into a biomechanically active polymer. These matrices provide a gel-like form and scaffolding structure with regional tensile strength provided by collagens, elasticity by elastins, adhesiveness by structural glycoproteins, compressibility by proteoglycans – hyaluronans, and communicability by a family of integrins, which exchanges information between cells and between cells and the extracellular matrix of vascular tissues. Each component of the extracellular matrix and specifically the capillary basement membrane possesses unique structural properties and interactions with one another, which determine the separate and combined roles in the multiple diabetic complications or diabetic opathies. Metabolic syndrome, prediabetes, type 2 diabetes mellitus, and their parallel companion (atheroscleropathy are associated with multiple metabolic toxicities and chronic injurious stimuli. The adaptable quality of a matrix or form genetically preloaded with the necessary information to communicate and respond to an ever-changing environment, which supports the interstitium, capillary and arterial vessel wall is individually examined.

  20. Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome Anormalidades do sistema nervoso central em pacientes com espectro óculo-aurículo-vertebral (síndrome de Goldenhar

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    2010-02-01

    Full Text Available OBJECTIVE: To describe the central nervous system (CNS alterations present in a sample of oculo-auriculo-vertebral spectrum (OAVS patients, trying to correlate them with other clinical features. METHOD: Seventeen patients with diagnosis of OAVS were evaluated. All presented radiological evaluation of the CNS, normal GTG-Banding karyotype and clinical features involving at least two from the four following areas: oro-cranio-facial, ocular, auricular and vertebral. RESULTS: CNS alterations were verified in eight from seventeen patients (47%. Diffuse cerebral hypoplasia, dilated lateral cerebral ventricles (asymptomatic hydrocephalus, corpus callosum dysgenesis and frontal hypodensities were the most frequent abnormalities. Presence of ophthalmologic abnormalities was the only clinical association observed, being significantly more frequent among patients with cerebral alterations (63% versus 11%. CONCLUSION: CNS abnormalities are frequent in patients with OAVS, especially in carriers of ophthalmologic alterations. However, the absence of detectable cerebral abnormalities did not exclude the possibility that these subjects will subsequently present neurological symptoms.OBJETIVO: Descrever as alterações do sistema nervoso central (SNC presentes em uma amostra de pacientes com espectro óculo-aurículo-vertebral (EOAV, tentando correlacioná-las com os demais achados clínicos. MÉTODO: Foram avaliados dezessete pacientes com diagnóstico de EOAV. Todos apresentavam avaliação radiológica do SNC, cariótipo por bandas GTG normal e achados clínicos em pelo menos duas das quatro das seguintes áreas: oro-crânio-facial, ocular, auricular e vertebral. RESULTADOS: Alterações do SNC foram verificadas em oito dos dezessete pacientes (47%. Hipoplasia cerebral difusa, dilatação dos ventrículos cerebrais laterais (hidrocefalia assintomática, disgenesia do corpo caloso e hipondesidades frontais foram as anormalidades mais frequentes. A presença de

  1. Cytokines in Sjogren's syndrome

    NARCIS (Netherlands)

    N. Roescher; P.P. Tak; G.G. Illei

    2009-01-01

    Cytokines play a central role in the regulation of immunity and are often found to be deregulated in autoimmune diseases. Sjogren's syndrome is a chronic autoimmune disease characterized by inflammation and loss of secretory function of the salivary and lachrymal glands. This review highlights the c

  2. The high cost of motherhood: End-lactation syndrome in southern sea otters (Enhydra lutris nereis) on the central California, USA, coast

    Science.gov (United States)

    Chinn, Sarah S; Miller, Melissa A.; Tinker, M. Tim; Staedler, Michelle M.; Batac, Francesca I.; Dodd, Erin M.; Henkel, Laird A.

    2016-01-01

    Sea otters (Enhydra lutris) have exceptionally high energetic requirements, which nearly double during lactation and pup care. Thus, females are extremely vulnerable to caloric insufficiency. Despite a number of compensatory strategies, the metabolic challenge of reproduction culminates in numerous maternal deaths annually. Massive depletion of energy reserves results in a case presentation that we define as end-lactation syndrome (ELS), characterized by moderate to severe emaciation not attributable to a concurrent, independent disease process in females dying during late pup care or postweaning. We compiled detailed data for 108 adult female southern sea otters (Enhydra lutris nereis) examined postmortem that stranded in California, US, 2005–12, and assessed pathology, reproductive status, and the location and timing of stranding. We introduce simple, grossly apparent, standardized physical criteria to assess reproductive stage for female sea otters. We also describe ELS, examine associated risk factors, and highlight female life history strategies that likely optimize reproduction and survival. Our data suggest that females can reset both the timing and energetic demands of reproduction through fetal loss, pup abandonment, or early weaning as part of specific physiologic checkpoints during each reproductive cycle. Females appear to preload nutritionally during delayed implantation and gestation to increase fitness and reproductive success. We found that ELS was a major cause of death, affecting 56% of enrolled adult females. Peak ELS prevalence occurred in late spring, possibly reflecting the population trend toward fall/winter pupping. Increasing age and number of pregnancies were associated with a higher risk of ELS. Although the proportion of ELS females was highest in areas with dense sea otter populations, cases were recovered throughout the range, suggesting that death from ELS is associated with, but not solely caused by, population resource limitation.

  3. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

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

  4. 上颌正中孤立中切牙综合征1例报告%Solitary median maxillary central incisor syndrome: a case of report

    Institute of Scientific and Technical Information of China (English)

    康丽颖; 刘新强

    2014-01-01

    上颌正中孤立中切牙(solitary median maxillary central incisor,SMMCI)是一种比较罕见的牙畸形,是指在上颌牙弓中仅发育并萌出1颗中切牙且该中切牙位于牙弓的正中,形态左右对称,大小与正常中切牙相似,在乳、恒牙列均可见.SMMCI可单独发生,也可伴发其他先天性中线结构畸形,或与一些系统性疾病同时发生.其中,与前脑无裂畸形(holoprosencephaly,HPE)关系最为密切.本文报告1例伴有其他中线结构缺陷的上颌正中孤立中切牙病例.并对相关问题进行讨论.

  5. Central Acute Vestibular Syndrome of Vascular Cause and Its Nystagmus Patterns%血管源性中枢急性前庭综合征及其眼震形式

    Institute of Scientific and Technical Information of China (English)

    鞠奕; 杨旭; 赵性泉

    2015-01-01

    The onset of acute vestibular syndrome (AVS) is characterized by rapid permanent vertigo, accompanying nausea, vomiting, spontaneous nystagmus, unsteady gait and intolerant head motion, these clinical symptoms last for more than 24 hours, the majority of AVS patients suffer for several days or weeks. Central AVS often originates from vascular causes, most of which are posterior circulation ischemic stroke. Even some patients with brain stem and cerebellar infarction present acute isolated vertigo, which is extremely challenging for diagnosis. With the development of researches about vestibular and eye movement physiology mechanism, bedside examination including vestibular, eye movement and posture balance system has become increasingly important. In addition to conventional neurology and otology examinations, nystagmus evaluation, which is based on the vestibular-eye reflex, contributes to rapid diagnosis of central AVS among vertigo patients. The present study elucidates the central AVS and nystagmus characteristics.%急性前庭综合征(acute vestibular syndrome,AVS)是以急性持续性眩晕起病,伴有恶心、呕吐,自发眼震,步态不稳,头动不能耐受等症状的临床综合征,持续时间超过24 h,大多为数天或数周。中枢性AVS以血管源性常见,其中大多数为后循环缺血性卒中,尤其部分脑干、小脑梗死常表现为急性孤立性眩晕,这类患者的诊断极具挑战性。随着前庭及眼动生理机制研究的深入,基于前庭、眼动及姿势平衡系统等方面的床旁检查重要性也日益凸显。眩晕患者的床旁检查,除了常规的神经科及耳科查体外,基于前庭-眼反射的各类眼震的评价极有助于快速诊断、识别中枢性AVS。本文对血管源性中枢性AVS的神经血管解剖基础、脑干和小脑卒中所致AVS的眼震特点等进行了综述归纳。

  6. Prenatal and postnatal prevalence of Turner's syndrome: a registry study.

    OpenAIRE

    Gravholt, C. H.; Juul, S; Naeraa, R. W.; Hansen, J.

    1996-01-01

    OBJECTIVE--To study prevalence of Turner's syndrome in Denmark and to assess validity of prenatal diagnosis. DESIGN--Study of data on prenatal and postnatal Turner's syndrome in Danish Cytogenetic Central Register. SUBJECTS--All registered Turner's syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. MAIN OUTCOME MEASURES--Prevalence of Turner's syndrome karyotypes among prenatally tested fetuses and Turner's syndrome among liveborn infants. RESULTS--Among infant g...

  7. Neuropathological changes of central nervous system in Guillain-Barré syndrome.%吉兰-巴雷综合征中枢神经系统病理改变

    Institute of Scientific and Technical Information of China (English)

    林世和; 赵节绪; 江新梅; 宋晓南

    2001-01-01

    Objective  To investigate the neuropathological changes of central nervous system in Guillain-Barré syndrom. Methods Brain, spinal cord and sciatic nerve were obtained from 22 cases of Guillain-Barré syndrome. Eight cases were examined by general autopsy, 14 cases were examined by limited autopsy. HE, KB, Bielschowsky, Weil and Sudan Ⅲ staining were carried out, the sections were observed by light microscopy. Results 1.Cerebral superficial veins congested, widening of the cortical sulci, narrowed gyri and mild cerebellar tonsillar hernia were present. 2. Majority of cerbral neurons presented an ischemic changes. Slightly loss of hippocampal pyramidal neurons were found. There was chromatolysis of motor neurons of brain stem. Lymphocytic infiltration around the small vessels occurred in the pons and medullary oblongata in 8 cases. Focal demyelination was noted in pons and frontal white matter in 2 cases. Loss of Purkinje cells and appearance of glial nodules were observed in molecular layer of cerebellum. 3. Swellin, central chromatolysis and eccentric nuclei of anterior horn cells appeared in 16 cases, which were pronounced in cervical and lumbal segment of spinal cord. Vaculated neuroplasma and lymphacytic infiltrition could be seen. 4. Segmental demyelination and lymphocytic infiltration were the main neuropathological changes observed in 20 cases. There were two other cases in which the axon were severely involved, which showed swelling and breakdown of axons and as well as axonal bulbs. Conclusions 1. Lymphocytic infiltration in brain stem and spinal cord were in continuousness of pathological changes of peripheral nerves. 2. Finding of glial nodules suggested that there was possibility of infection of neurotropic virus. 3. Occurence of focal demyelination in cerebrum and brain stem indicated that Guillain-Barré syndrome may have combined involvement of central and peripheral nervous system.%目的观察

  8. [Alport's syndrome (author's transl)].

    Science.gov (United States)

    Huismans, H

    1978-05-01

    A case report is given of a 22-years old student (whose brother had Alport's syndrome) with recurrent central corneal swelling and paracentral erosions of the cornea of both eyes. Further signs of beginning Alport's syndrome in this case are disturbance of re-adaptation after dazzling (Mesoptometer) and paracentral scotomata in the visual fields. Remarkable was the small diameter of the disc in both eyes (1.37 mm). Local therapy was Scopolamin-eye-drops, Actihaemyl- and especially Cystein-Gel (2.4%). PMID:672101

  9. Turner Syndrome

    Science.gov (United States)

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

  10. Cushing's Syndrome

    Science.gov (United States)

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

  11. Cushing's Syndrome

    Science.gov (United States)

    ... Cushing's syndrome, also called hypercortisolism , is a rare endocrine disorder caused by chronic exposure of the body's tissues ... removing the tumor while minimizing the chance of endocrine deficiency or long-term ... for Cushing's Syndrome Clinical Trials ...

  12. Turner Syndrome

    Science.gov (United States)

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

  13. CT and MRI of congenital nasal lesions in syndromic conditions

    Energy Technology Data Exchange (ETDEWEB)

    Ginat, Daniel T. [University of Chicago, Department of Radiology, Chicago, IL (United States); Robson, Caroline D. [Harvard Medical School, Department of Radiology, Boston Children' s Hospital, Boston, MA (United States)

    2015-07-15

    Congenital malformations of the nose can be associated with a variety of syndromes, including solitary median maxillary central incisor syndrome, CHARGE syndrome, Bosma syndrome, median cleft face syndrome, PHACES association, Bartsocas-Papas syndrome, Binder syndrome, duplication of the pituitary gland-plus syndrome and syndromic craniosynsotosis (e.g., Apert and Crouzon syndromes) among other craniofacial syndromes. Imaging with CT and MRI plays an important role in characterizing the nasal anomalies as well as the associated brain and cerebrovascular lesions, which can be explained by the intimate developmental relationship between the face and intracranial structures, as well as certain gene mutations. These conditions have characteristic imaging findings, which are reviewed in this article. (orig.)

  14. CT and MRI of congenital nasal lesions in syndromic conditions.

    Science.gov (United States)

    Ginat, Daniel T; Robson, Caroline D

    2015-07-01

    Congenital malformations of the nose can be associated with a variety of syndromes, including solitary median maxillary central incisor syndrome, CHARGE syndrome, Bosma syndrome, median cleft face syndrome, PHACES association, Bartsocas-Papas syndrome, Binder syndrome, duplication of the pituitary gland-plus syndrome and syndromic craniosynsotosis (e.g., Apert and Crouzon syndromes) among other craniofacial syndromes. Imaging with CT and MRI plays an important role in characterizing the nasal anomalies as well as the associated brain and cerebrovascular lesions, which can be explained by the intimate developmental relationship between the face and intracranial structures, as well as certain gene mutations. These conditions have characteristic imaging findings, which are reviewed in this article. PMID:25573243

  15. 颅脑创伤后尿崩症合并脑性盐耗综合征%Combined central diabetes insipidus and cerebral salt wasting syndrome after traumatic brain injury

    Institute of Scientific and Technical Information of China (English)

    吴雪海; 高亮; 胡锦; 吴惺; 郎黎琴; 金毅; 毛颖; 周良辅

    2011-01-01

    目的 探讨如何正确认识、早期及时诊断和准确治疗尿崩症合并脑性盐耗综合征,以提高救治成功率.方法 回顾性分析6例尿崩症合并脑性盐耗综合征的临床特点:尿量特别异常增多、高脑利钠肽水平和显著尿钠排泄增加是其最显著特征;尿比重、血钠水平和血浆渗透压可以正常;尿量增多单纯加压素疗效不佳,而加用醋酸可的松治疗有效.结果 6例患者及时正确诊断为尿崩症合并脑性盐耗综合征,但其中1例患者因为血钠上升过快出现脑桥脱髓鞘病变,最终植物状态;1例患者因脑疝、多脏衰而死亡;其余4例患者治愈出院.结论 根据尿崩症合并脑性盐耗综合征的临床特点本文提出其参考诊断标准,及时诊断和正确治疗是成功救治的关键.%Objective To discuss the diagnosis coexistence of central diabetes insipidus and cerebral salt wasting syndrome promptly and treat properly.Method Six patients who suffered central diabetes insipidus combined cerebral salt wasting syndrome were analyzed retrospectively.Its characteristics was massive polyuria which can not be controlled by vasopressin alone,but can be controlled by both vasopresin and cortisone acetate.Sodium chloride saline were mainly used to make up for the loss of water and salt.Other charactefistcs were including low CVP,high Pro - BNP,high 24 h urine sodium evacuation with normal serum sodium level,higher osmolarity in urine than in serum which was at normal level,and usually normal urine specific gravity.Results One died and one became vegetative state,other four patients discharged with Glasgow Coma Scale 15.Conclusions Monitoring of water and sodium metabolism systemically were critical to diagnose the concurrent DI and CSW.Slow sodium chloride saline supplement,cortisone acetate and desmopressin were the keys to deal with concurrent DI and CSW.With exact diagnosis and treatment promptly,favourable outcome can be achieved.

  16. National Down Syndrome Society

    Science.gov (United States)

    ... info@ndss.org Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... More » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  17. Learning about Marfan Syndrome

    Science.gov (United States)

    ... genetic terms used on this page Learning About Marfan Syndrome What is Marfan syndrome? What are the ... Syndrome Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most ...

  18. Central blood pressure and pulse wave velocity: relationship to target organ damage and cardiovascular morbidity-mortality in diabetic patients or metabolic syndrome. An observational prospective study. LOD-DIABETES study protocol

    Directory of Open Access Journals (Sweden)

    Castaño-Sánchez Carmen

    2010-03-01

    Full Text Available Abstract Background Diabetic patients show an increased prevalence of non-dipping arterial pressure pattern, target organ damage and elevated arterial stiffness. These alterations are associated with increased cardiovascular risk. The objectives of this study are the following: to evaluate the prognostic value of central arterial pressure and pulse wave velocity in relation to the incidence and outcome of target organ damage and the appearance of cardiovascular episodes (cardiovascular mortality, myocardial infarction, chest pain and stroke in patients with type 2 diabetes mellitus or metabolic syndrome. Methods/Design Design: This is an observational prospective study with 5 years duration, of which the first year corresponds to patient inclusion and initial evaluation, and the remaining four years to follow-up. Setting: The study will be carried out in the urban primary care setting. Study population: Consecutive sampling will be used to include patients diagnosed with type 2 diabetes between 20-80 years of age. A total of 110 patients meeting all the inclusion criteria and none of the exclusion criteria will be included. Measurements: Patient age and sex, family and personal history of cardiovascular disease, and cardiovascular risk factors. Height, weight, heart rate and abdominal circumference. Laboratory tests: hemoglobin, lipid profile, creatinine, microalbuminuria, glomerular filtration rate, blood glucose, glycosylated hemoglobin, blood insulin, fibrinogen and high sensitivity C-reactive protein. Clinical and 24-hour ambulatory (home blood pressure monitoring and self-measured blood pressure. Common carotid artery ultrasound for the determination of mean carotid intima-media thickness. Electrocardiogram for assessing left ventricular hypertrophy. Ankle-brachial index. Retinal vascular study based on funduscopy with non-mydriatic retinography and evaluation of pulse wave morphology and pulse wave velocity using the SphygmoCor system. The

  19. Dumping Syndrome

    Science.gov (United States)

    ... Disease Organizations​​ (PDF, 341 KB)​​​​​ Alternate Language URL Dumping Syndrome Page Content On this page: What is ... Nutrition Points to Remember Clinical Trials What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

  20. Refeeding syndrome.

    Science.gov (United States)

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

    2009-01-01

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

  1. Waardenburg′s syndrome

    Directory of Open Access Journals (Sweden)

    Amladi Sangeeta

    1993-01-01

    Full Text Available A 2 ½ year old female child presented with heterochromia irides and a depigmented macule on the hand with central hyperpigmentation. There was presence of medial eyebrow hyperplasia, broad nasal root and dystopia canthorum. The fundus on the affected side was albinotic. There was no white forelock or deafness. Biopsy from the depigmented area showed an absence of melancocytes. A diagnosis of Waardenburg′s syndrome type 1 was made.

  2. Waardenburg′s syndrome

    OpenAIRE

    Yesudian Devakar; Jayaraman M; Janaki V; Yesudian Patrick

    1993-01-01

    A 2 ½ year old female child presented with heterochromia irides and a depigmented macule on the hand with central hyperpigmentation. There was presence of medial eyebrow hyperplasia, broad nasal root and dystopia canthorum. The fundus on the affected side was albinotic. There was no white forelock or deafness. Biopsy from the depigmented area showed an absence of melancocytes. A diagnosis of Waardenburg′s syndrome type 1 was made.

  3. Fetal varicella syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandra S

    2010-01-01

    Full Text Available Fetal varicella syndrome is a rare condition of the newborn, presenting with cutaneous scars, limb defects and ocular and central nervous system abnormalities. It is due to varicella or zoster developing in the fetus following maternal varicella infection during early pregnancy. We are reporting one such patient who presented with a linear, depressed, erythematous scar over the left forearm and axillary fold, with a history of maternal chicken pox during the first trimester of pregnancy.

  4. Fetal varicella syndrome

    OpenAIRE

    Ramachandra S; Metta Arun; Haneef Nayeem; Kodali Sandeep

    2010-01-01

    Fetal varicella syndrome is a rare condition of the newborn, presenting with cutaneous scars, limb defects and ocular and central nervous system abnormalities. It is due to varicella or zoster developing in the fetus following maternal varicella infection during early pregnancy. We are reporting one such patient who presented with a linear, depressed, erythematous scar over the left forearm and axillary fold, with a history of maternal chicken pox during the first trimester of pregnancy.

  5. Alagille Syndrome: A Review

    OpenAIRE

    Callea, Michele; Bahsi, Emrullah; Montanari, Marco; Ince, Bayram; Mancini, Giovanni E.; YAVUZ, Yasemin; Radovich, Franco; Gunay, Ayse; Piana, Gabriela; Unal, Mehmet; D’Alessandro, Giovanni; Caselli, Mauro; Clarich, Gabriella

    2013-01-01

    Alagille Syndrome (AGS) is a genetically determined multisystem disorder affecting liver, hearth, eyes, skeleton and facies, less commonly kidney and CNS. The prognosis depends on the severity of the associated anomalies. The liver pathology plays a central role in that most clinical complications are due to long standing cholestasis as a consequence of lack of bile excretion secondary to paucity/absence of interlobular bile ducts. That results in hyperbilirubinemia, hypercholesterolemia, hyp...

  6. Central obesity and metabolic syndrome in community residents%杭州市社区人群中心性肥胖是代谢综合征的危险因素

    Institute of Scientific and Technical Information of China (English)

    张忠夫; 谭树凤; 康康

    2009-01-01

    目的 探讨杭州社区人群中心性肥胖与代谢综合征(MS)患病及相关代谢异常之间的关系.方法 于2007年3月至2007年11月随机抽取杭州市4个街道的4个社区18岁及以上常住居民1131例,实际调查1053例,男性542例,女性511例,平均45.6岁,进行流行病学问卷调查和体格检查,测定血压、腰围(WL)及血糖、血脂等生化指标.用SPSS 11.0软件进行统计分析,采用方差分析和Pearson或Spearman相关分析方法.结果 MS、中心性肥胖、高血压、糖尿病患病率分别为11.2%、23.6%、30.5%、8.5%.MS、高血压及糖尿病的患病率随WL的增加而显著上升(P<0.05).WL与体质指数、收缩压、舒张压、空腹血糖、血甘油三酯及血清总胆固醇正相关(r值分别为0.812、0.649、0.712、0.657、0.598、0.676),而与高密度脂蛋白负相关(r=-0.578);WL增加与代谢指标异常数量呈显著正相关(r=0.658,P<0.05).结论 杭州市社区人群中心性肥胖是MS发生的危险因素.%Objective To assess the relationship between central obesity and metabolic syndrome (MS) in community population.Methods One thousand and fifty-three individuals aged≥18 (mean,45.6),including 542 men and 511 women,were recruited for questionnaire survey and medical exarmnation from 4 communities of Hangzhou during March and November 2007.Their blood pressure,waist circumference,serum glucose,lipid profile,and other biochemical markers were measured.All data were used for variance analysis.Results The prevalence of MS,central obesity,hypertension,and diabetes mellitus (DM) was 11.2%,23.6%,30.5%,and 8.5%,respectlvely.The prevalence of MS,DM,and hypertension was increased with waist circumference(P<0.05).Waist circumference was positively correlated to body mass index (BMI).systolic blood pressure(SBP),diastolic blood pressure(DSP),fasting blood sugar,total cholesterol,and triglyceride (r=0.812,0.649,0.712,0.657,0.598,and 0.676,respectively),although negativelv with high

  7. The oculocerebrocutaneous (Delleman-Oorthuys) syndrome

    NARCIS (Netherlands)

    Naafs, GG; van der Vliet, AM; Hew, JM

    1999-01-01

    We describe two cases of the so-called oculocerebrocutaneous syndrome, also known as the Delleman-Oorthuys syndrome. Both patients had characteristic congenital anomalies of the orbit, central nervous system and skin. The ocular and cerebral lesions were studied with CT and MRI.

  8. The Greig cephalopolysyndactyly syndrome

    Directory of Open Access Journals (Sweden)

    Biesecker Leslie G

    2008-04-01

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

  9. Metabolic syndrome and cardiovascular risk

    Directory of Open Access Journals (Sweden)

    Abdullah M Alshehri

    2010-11-01

    Full Text Available The constellation of dyslipidemia (hypertriglyceridemia and low levels of high-density lipoprotein cholesterol, elevated blood pressure, impaired glucose tolerance, and central obesity is now classified as metabolic syndrome, also called syndrome X. In the past few years, several expert groups have attempted to set forth simple diagnostic criteria for use in clinical practice to identify patients who manifest the multiple components of the metabolic syndrome. These criteria have varied somewhat in specific elements, but in general, they include a combination of multiple and metabolic risk factors. The most widely recognized of the metabolic risk factors are atherogenic dyslipidemia, elevated blood pressure, and elevated plasma glucose. Individuals with these characteristics, commonly manifest a prothrombotic state as well as and a proinflammatory state. Atherogenic dyslipidemia consists of an aggregation of lipoprotein abnormalities including elevated serum triglyceride and apolipoprotein B (apoB, increased small LDL particles, and a reduced level of HDL cholesterol (HDL-C. The metabolic syndrome is often referred to as if it were a discrete entity with a single cause. Available data suggest that it truly is a syndrome, ie, a grouping of atherosclerotic cardiovascular disease (ASCVD risk factors, that probably has more than one cause. Regardless of cause, the syndrome identifies individuals at an elevated risk for ASCVD. The magnitude of the increased risk can vary according to the components of the syndrome present as well as the other, non-metabolic syndrome risk factors in a particular person.

  10. 中心性肥胖高血压尿微量白蛋白/尿肌酐特征及与中医证型相关性分析%Analysis on the Characteristics of Urinary Microalbumin/Creatinine Ratio in Central Obesity Hypertension and Its Correlation with Traditional Chinese Medicine Syndromes

    Institute of Scientific and Technical Information of China (English)

    芦波; 韩亚楠; 周训杰; 桂明泰; 姚磊; 李建华; 符德玉

    2016-01-01

    Objective To explore the TCM syndrome distribution characteristics of central obesity hypertension patients; To analyze its correlation with urinary microalbumin/creatinine (MA/Cr) ratio; To provide some proof for an efficient way to control central obesity hypertension and prevent and cure its early renal injury with integrated TCM and Western medicine.Methods It was performed in a cross-sectional epidemiological study. The age, gender, height, weight, waist circumference, blood pressure, medical history and symptoms of 359 central obesity hypertension patients were collected in Shanghai. Then according to the four diagnostic methods, TCM syndromes were recorded. The urinary MA/Cr ratio, fasting blood glucose, fasting insulin and hs-CRP levels were detected.Results The urinary MA/Cr detectable rate in Shanghai among central obesity hypertension was 33.4% (120/359), men accounting for 56% and women 44%. Among central obesity hypertension patients, the HOMA-IR and hs-CRP level of urinary albumin group were significantly higher than those of normal group, with statistical significance (P<0.05). Among 359 central obesity hypertension patients, 140 people had phlegm-dampness syndrome, accounting for 39%, the largest part; 108 had liver-yang hyperactivity syndrome, accounting for 30%; 61 had yin-yang deficiency syndrome, accounting for 17%; 50 had yin-deficiency and yang-hyperactivity syndrome, accounting for 14%; the number of four TCM syndromes had statistical difference (P<0.05). Urinary MA/Cr ratio of the patients with phlegm-dampness syndrome was significantly higher than that of other three syndromes (P<0.05).Conclusion The incidence rate of early renal damage with central obesity hypertension patients is high in Shanghai area, and the early stage of renal damage is associated with insulin resistance and inflammatory reaction. Among central obesity hypertension, phlegm-dampness syndrome and liver-yang hyperactivity account for the majority, and patients with

  11. Waardenburg syndrome.

    OpenAIRE

    Read, A P; Newton, V E

    1997-01-01

    Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are ho...

  12. Metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Gogia Atul

    2006-02-01

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

  13. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

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

  14. Sweet Syndrome

    OpenAIRE

    Kasapçopur, Özgür; Sever, Lale; Çalışkan, Salim; Kodakoğlu, Ramazan; Mat, Cem; Kaner, Gültekin; Arısoy, Nil

    1996-01-01

    Sweet syndrome is a vasculitis characterized with fever leucocytosis neutrophilia and dermal neutrophilic infiltration In children Sweet syndrome usually occurs with secondary to infection and in adults to malignancy We report a Sweet syndrome in a five years old girl with respiratory infections otitis dactylitis long lasting fever and cutaneous rash A neutrophilic dermal infiltration is noted in cutaneous biopsy These signs have disappeared with corticosteroid treatment In conclusion Sweet s...

  15. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Bockeria O.L.

    2015-03-01

    Full Text Available Brugada syndrome is characterized by sudden death associated with one of several ECG patterns including incomplete right bundle-branch block and ST-segment elevation in the anterior precordial leads. According to the ECG patterns there are three types of Brugada syndrome. Brugada syndrome is genetically determined and has an autosomal dominant pattern of transmission in about 50% of familial cases. Nowadays implantation of cardioverter-defibrillator is the only proven method of sudden cardiac death prevention.

  16. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... How Can I Help a Friend Who Cuts? Marfan Syndrome KidsHealth > For Teens > Marfan Syndrome Print A ... a genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, ...

  17. What Is Down Syndrome?

    Science.gov (United States)

    ... NDSS Home » Down Syndrome » What Is Down Syndrome? What Is Down Syndrome? In every cell in the ... chromosome 21 causes the characteristics of Down syndrome. What Causes Down Syndrome? Regardless of the type of ...

  18. Three Cases With Inappropriate TSH Syndrome

    Directory of Open Access Journals (Sweden)

    Hatice Sebila Dökmetaş

    2012-12-01

    Full Text Available Inappropriate thyroid-stimulating hormone (TSH syndrome or central hyperthyroidism is a rare disorder characterized by inappropriately normal or elevated levels of TSH and elevated levels of T3 and T4. The syndrome is associated with TSH-secreting pituitary adenoma (TSHoma or thyroid hormone resistance (THR. Thyroid-releasing hormone stimulation test and T3 suppression test can be useful for the differential diagnosis of central hyperthyroidism. In the present study, we report three cases of inappropriate TSH syndrome diagnosed after TRH stimulation and T3 suppression tests. Turk Jem 2012; 16: 105-8

  19. Acute lymphoid leukemia presenting with superior vena cava syndrome

    OpenAIRE

    Mohammad Emami Ardestani; Firouzeh Moeinzadeh

    2013-01-01

    When superior vena cava (SVC) compress or obstructed by internal or external pressure, we encounter to SVC syndrome. The cause of this compression is malignant or benign. Although the widespread use of permanent central venous access catheters coupled with the improved success of chemotherapy has increased the incidence of SVC syndrome not caused by direct tumor infiltration (non-malignant SVC syndrome) but SVC syndrome may be a sign of advanced malignancy. In this report, we present a 30-yea...

  20. Pediatric Neurocutaneous Syndromes with Cerebellar Involvement.

    Science.gov (United States)

    Bosemani, Thangamadhan; Huisman, Thierry A G M; Poretti, Andrea

    2016-08-01

    Neurocutaneous syndromes encompasses a broad group of genetic disorders with different clinical, genetic, and pathologic features that share developmental lesions of the skin as well as central and peripheral nervous system. Cerebellar involvement has been shown in numerous types of neurocutaneous syndrome. It may help or be needed for the diagnosis and to explain the cognitive and behavioral phenotype of affected children. This article describes various types of neurocutaneous syndrome with cerebellar involvement. For each neurocutaneous disease or syndrome, clinical features, genetic, neuroimaging findings, and the potential role of the cerebellar involvement is discussed. PMID:27423801

  1. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

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

  2. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

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

    2002-01-01

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

  3. Myelodysplastic Syndromes

    Science.gov (United States)

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

  4. Bloom's Syndrome

    Science.gov (United States)

    ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ...

  5. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma

    2014-01-01

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

  6. Franceschetti syndrome

    Directory of Open Access Journals (Sweden)

    Vikrant Kasat

    2011-01-01

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

  7. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.

    2013-06-01

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

  8. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

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

  9. Burnout Syndrome

    OpenAIRE

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

    2013-01-01

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

  10. Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Sanjeev K. Digra, Deep Aman Singh, Vikram Gupta, Ghanshyam Saini

    2004-10-01

    Full Text Available We report a 11 year old boy and his father both Noonan’s. Noonan syndrome occurs in 1 out of 2000live births. Short stature, webbing of neck, pectus carinatum or pectus excavatum, hypertelorismcubitus valgus, epicanthus, downward slanted palpebral fissures, ptosis, microganthia and earabnormalities are the common features of Noonan syndrome.

  11. [Dejerine-Roussy syndrome].

    Science.gov (United States)

    Cambier, J

    1982-01-01

    The description of the thalamic syndrome by J. Dejerine and G. Roussy in 1906 was a consecration of the clinicopathologic method, announcing the end of discussions relative to the role of the thalamus as a sensorial relay center, discussions opposing B. Luys to Türk and to Charcot and which animated the end of the 19th century. Since then, the thalamic syndrome has not ceased to arouse the attention of neurologists, who have developed four major themes: the specificity of the thalamic hemianesthesia; the mechanism of the central pain; the semiologic value and physiopathology of the abnormal movements; and finally the pupillary and vasomotor disorders. Exploration of each of these topics led to a definition of neurologic semiology and to the development of neurophysiology during the second half of the XXth century. By reviewing this the confrontation between different men and schools appears behind the opposition of ideas. The revision of the thalamic syndrome ceased when the discovery of the non-specific functions of the thalamus opened the way to new concepts. Dejerine-Roussy's syndrome expresses the semiology of the relay nuclei. For the last thirty years, experience has accumulated on the semiology of lesions affecting the nuclei of convergence. Neuropsychology of thalamic lesions has demonstrated the regulatory role performed by the thalamus within each hemisphere and in the relative activation of each hemisphere. But this is another story. PMID:6763299

  12. Gut microbiome and metabolic syndrome.

    Science.gov (United States)

    Mazidi, Mohsen; Rezaie, Peyman; Kengne, Andre Pascal; Mobarhan, Majid Ghayour; Ferns, Gordon A

    2016-01-01

    The gut microbiome contributes approximately 2kg of the whole body weight, and recent studies suggest that gut microbiota has a profound effect on human metabolism, potentially contributing to several features of the metabolic syndrome. Metabolic syndrome is defined by a clustering of metabolic disorders that include central adiposity with visceral fat accumulation, dyslipidemia, insulin resistance, dysglycemia and non-optimal blood pressure levels. Metabolic syndrome is associated with an increased risk of cardiovascular diseases and type 2 diabetes. It is estimated that around 20-25 percent of the world's adult population has metabolic syndrome. In this manuscript, we have reviewed the existing data linking gut microbiome with metabolic syndrome. Existing evidence from studies both in animals and humans support a link between gut microbiome and various components of metabolic syndrome. Possible pathways include involvement with energy homeostasis and metabolic processes, modulation of inflammatory signaling pathways, interferences with the immune system, and interference with the renin-angiotensin system. Modification of gut microbiota via prebiotics, probiotics or other dietary interventions has provided evidence to support a possible beneficial effect of interventions targeting gut microbiota modulation to treat components or complications of metabolic syndrome.

  13. Metabolic syndrome, inflammation and atherosclerosis

    Directory of Open Access Journals (Sweden)

    Rodolfo Paoletti

    2006-06-01

    Full Text Available Rodolfo Paoletti1,2, Chiara Bolego1, Andrea Poli2, Andrea Cignarella1,31Department of Pharmacological Sciences, University of Milan, Italy; 2Nutrition Foundation of Italy (NFI, Milan; 3Department of Pharmacology and Anesthesiology, University of Padova, ItalyAbstract: The inflammatory component of atherogenesis has been increasingly recognized over the last decade. Inflammation participates in all stages of atherosclerosis, not only during initiation and during evolution of lesions, but also with precipitation of acute thrombotic complications. The metabolic syndrome is associated with increased risk for development of both cardiovascular disease and type-2 diabetes in humans. Central obesity and insulin resistance are thought to represent common underlying factors of the syndrome, which features a chronic low-grade inflammatory state. Diagnosis of the metabolic syndrome occurs using defined threshold values for waist circumference, blood pressure, fasting glucose and dyslipidemia. The metabolic syndrome appears to affect a significant proportion of the population. Therapeutic approaches that reduce the levels of proinflammatory biomarkers and address traditional risk factors are particularly important in preventing cardiovascular disease and, potentially, diabetes. The primary management of metabolic syndrome involves healthy lifestyle promotion through moderate calorie restriction, moderate increase in physical activity and change in dietary composition. Treatment of individual components aims to control atherogenic dyslipidemia using fibrates and statins, elevated blood pressure, and hyperglycemia. While no single treatment for the metabolic syndrome as a whole yet exists, emerging therapies offer potential as future therapeutic approaches.Keywords: metabolic syndrome, systemic inflammation, coronary artery disease

  14. Elejalde syndrome (ES).

    Science.gov (United States)

    Mohammadzadeh Shanehsaz, Siavash; Rezazadeh, Azadeh; Dandashli, Anwar

    2015-03-01

    Silvery hair and severe dysfunction of the central nervous system (Neuroectodermal melanolysosomal disease or Elejalde Syndrome) characterize this rare autosomal recessive syndrome. The main clinical features include silver-leaden hair, bronze skin after sun exposure, and neurologic involvement. Large granules of melanin unevenly distributed in the hair shaft are observed. Abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblasts may be present. We report a 10-year-old girl with silver-leaden (silvery) hair, bronze skin color on sun-exposed areas, generalized hypopigmentation of covered body parts, and congenital seizures. The child was the elder of two children born of a consanguineous marriage. The younger sibling, a female neonate, had the same clinical presentation. PMID:25780981

  15. Kounis syndrome.

    Science.gov (United States)

    Ntuli, P M; Makambwa, E

    2015-10-01

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or non-vasospastic angina secondary to a hypersensitivity reaction. It was first described by Kounis and Zavras in 1991 as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and coronary artery spasm or even myocardial infarction. Since then, this condition has evolved to include a number of mast cell activation disorders associated with acute coronary syndrome. There are many triggering factors, including reactions to multiple medications, exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital organs. The incidence of this condition is difficult to establish owing to the number of potential instigating factors and its relatively infrequent documentation in the literature.We report the case of an HIV-negative 39-year-old man with no coronary risk factors or family history of premature coronary artery disease, who developed Kounis syndrome after the administration of fluoroquinolone for dysuria. However, to the best of our knowledge,no data on the incidence and prevalence of Kounis syndrome in South Africa have ever been reported in the literature. The recent understanding of Kounis syndrome has led to the condition being classified into three syndrome variants. PMID:26636160

  16. HYDROLETHALUS SYNDROME

    Directory of Open Access Journals (Sweden)

    Aradhana

    2013-06-01

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

  17. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

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

  18. Hubris syndrome.

    Science.gov (United States)

    Owen, David

    2008-08-01

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

  19. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Goldman Michel

    2007-09-01

    Full Text Available Abstract Hypereosinophilic syndromes (HES constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109/L for more than six consecutive months associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders have been excluded. Prevalence is unknown. HES occur most frequently in young to middle-aged patients, but may concern any age group. Male predominance (4–9:1 ratio has been reported in historic series but this is likely to reflect the quasi-exclusive male distribution of a sporadic hematopoietic stem cell mutation found in a recently characterized disease variant. Target-organ damage mediated by eosinophils is highly variable among patients, with involvement of skin, heart, lungs, and central and peripheral nervous systems in more than 50% of cases. Other frequently observed complications include hepato- and/or splenomegaly, eosinophilic gastroenteritis, and coagulation disorders. Recent advances in underlying pathogenesis have established that hypereosinophilia may be due either to primitive involvement of myeloid cells, essentially due to occurrence of an interstitial chromosomal deletion on 4q12 leading to creation of the FIP1L1-PDGFRA fusion gene (F/P+ variant, or to increased interleukin (IL-5 production by a clonally expanded T cell population (lymphocytic variant, most frequently characterized by a CD3-CD4+ phenotype. Diagnosis of HES relies on observation of persistent and marked hypereosinophilia responsible for target-organ damage, and exclusion of underlying causes of hypereosinophilia, including allergic and parasitic disorders, solid and hematological malignancies, Churg-Strauss disease, and HTLV infection. Once these criteria are fulfilled, further testing for eventual pathogenic classification is warranted using appropriate cytogenetic and functional approaches. Therapeutic

  20. An unusual central retinal dystrophy associated with ichthyosis vulgaris.

    Science.gov (United States)

    Saatci, O A; Ozbek, Z; Köse, S; Durak, I; Kavukçu, S

    2000-06-01

    A number of ichthyosis syndromes may have retinal abnormalities such as the retinitis pigmentosa-like diffuse rod-cone dystrophy in Refsum's syndrome and the maculopathy in Sjögren-Larsson syndrome. We present two sisters who have an unusual, almost identical, bilaterally symmetric central retinal dystrophy associated with ichthyosis vulgaris in the absence of other systemic disorders. We believe that this dystrophy has not been previously described in patients with any of the known varieties of ichthyosis.

  1. [Mobius syndrome].

    Science.gov (United States)

    Vladuţiu, Cristina; Duma, Ionela

    2012-01-01

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

  2. Gardner Syndrome

    Science.gov (United States)

    ... syndromes. For more information, talk with an assisted reproduction specialist at a fertility clinic. How common is ... detected X-ray or computed tomography (CT or CAT) scan of the small bowel if adenomas are ...

  3. [Heptopulmonary syndrome].

    Science.gov (United States)

    Cuadrado, Antonio; Díaz, Ainhoa; Iruzubieta, Paula; Salcines, José Ramón; Crespo, Javier

    2015-01-01

    Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. PMID:25840463

  4. Piriformis syndrome

    Science.gov (United States)

    ... Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... medical help immediately if: You have sudden severe pain in your lower back or legs, along with muscle weakness or numbness ...

  5. Potter syndrome

    Science.gov (United States)

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

  6. Pendred Syndrome

    Science.gov (United States)

    ... Health & Human Services National Institutes of Health Search Search form Search A–Z Index Español Menu Home ... children, the thyroid is important for normal growth and development. Children with Pendred syndrome, however, rarely have problems ...

  7. [Refeeding syndrome].

    Science.gov (United States)

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

    2016-01-01

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

  8. Pollination syndromes ignored

    DEFF Research Database (Denmark)

    Maruyama, P. K.; Oliveira, G. M.; Ferreira, Célia Maria Dias;

    2013-01-01

    Generalization prevails in flower-animal interactions, and although animal visitors are not equally effective pollinators, most interactions likely represent an important energy intake for the animal visitor. Hummingbirds are nectar-feeding specialists, and many tropical plants are specialized...... to increase the overall nectar availability. We showed that mean nectar offer, at the transect scale, was the only parameter related to hummingbird visitation frequency, more so than nectar offer at single flowers and at the plant scale, or pollination syndrome. Centrality indices, calculated using...

  9. Turner Syndrome

    OpenAIRE

    Ramachandran Sudarshan; G Sree Vijayabala; KS Prem Kumar

    2012-01-01

    Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate th...

  10. Pendred's syndrome

    International Nuclear Information System (INIS)

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

  11. Cushing syndrome, sexual precocity, and polyostotic fibrous dysplasia (Albright syndrome) in infancy.

    Science.gov (United States)

    Danon, M; Robboy, S J; Kim, S; Scully, R; Crawford, J D

    1975-12-01

    The sexual precocity of polyostotic fibrous dysplasia is occasionally accompanied by other endocrine disorders, but in only two previous instances has Cushing syndrome been reported. The history of a 6-month-old girl is presented, in whom this syndrome was complicated by congenital Cushings syndrome. Although endocrinopathies of polyostotic fibrous dysplasia have usually been ascribed to a central (hypothalamic) origin, the findings in this patient suggest autonomous hyperfunction of the peripheral endocrine glands, with the Cushing syndrome caused by hyperplastic nodules in the adrenal glands and the precocity by luteinized follicular cysts of the ovary.

  12. Etiopathogenetic mechanisms of fibromyalgia syndrome

    Directory of Open Access Journals (Sweden)

    R.H. Gracely

    2011-09-01

    Full Text Available Fibromyalgia syndrome (FMS is a common chronic condition of widespread pain with causal mechanisms that are largely unknown. It is characterized by moderate to severe musculoskel - etal pain and allodynia, but its pathogenesis appears confined to the nociceptive structures of the central nervous system. From a pathogenetic point of view, indeed, no clear muscle pathology has been demonstrated in FMS (1, 2, while increasing evidence suggests a disturbance in pain perception that is genetically conditioned. In our review we will consider five “keypoints” that we think determine the origin and maintenance of the pain syndrome that we define as fibromyalgia...

  13. Burning Mouth Syndrome

    Science.gov (United States)

    ... OralHealth > Topics > Burning Mouth Syndrome > Burning Mouth Syndrome Burning Mouth Syndrome Main Content Key Points Symptoms Diagnosis Primary and Secondary BMS Treatment Helpful Tips Key Points Burning mouth syndrome is burning pain in the mouth that may ...

  14. Learning about Down Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What ... Down syndrome? People who have Down syndrome have learning difficulties, mental retardation, a characteristic facial appearance, and ...

  15. Exogenous Cushing syndrome

    Science.gov (United States)

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

  16. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Turner Syndrome: Other FAQs Skip sharing on social media links ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  17. Índices de obesidade central e fatores de risco cardiovascular na síndrome dos ovários policísticos Índices de obesidad central y factores de riesgo cardiovascular en el síndrome de ovarios poliquísticos Central obesity index and cardiovascular risk factors in polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Eduardo Caldas Costa

    2010-05-01

    la cintura (CC, de la relación cintura-cadera (RCC, de la relación cintura-estatura (RCEst y del índice de conicidad (índice C, en los que se refiere a la detección de factores de riesgo cardiovascular (FRCV en mujeres con SOP. MÉTODOS: Por medio de estudio transversal, fueron seleccionadas 102 mujeres (26,5 ± 5 años con diagnóstico de SOP, de acuerdo con el consenso de Rotterdam. El colesterol total (CT, los triglicéridos (TG, el LDL-colesterol (LDL-c, el HDL-colesterol (HDL-C, la glucemia en ayunas, la glicemia después del test oral de tolerancia a la glucosa (TOTG y la presión arterial (PA fueron evaluadas en todas las pacientes, además de las variables antropométricas. RESULTADOS: La relación cintura-estatura fue el marcador que presentó correlaciones positivas significativas con el mayor número de FRCV (PA, TG y glucemia después del TOTG, destacándose además la correlación negativa con HDL-C. Todos los marcadores antropométricos evaluados se correlacionaron positivamente con la PA, mientras que CC y RCC presentaron correlación positiva también con TG. En lo tocante a la precisión para detección de FRCV, los indicadores antropométricos considerados presentaron índices de sensibilidad superiores al 60%, destacándose la RCEst, que presentó sensibilidad superior al 70%. CONCLUSIÓN: La RCEst demostró ser el indicador antropométrico con la mayor precisión para la predicción de FRCV. En este sentido, se propone la inclusión de ese parámetro de fácil medición en la evaluación clínica para el rastreo de mujeres con SOP y FRCV.BACKGROUND: Women with polycystic ovary syndrome (PCOS present a high prevalence of abdominal obesity, which is associated with an increased cardiovascular risk. OBJECTIVE: To verify the accuracy of the waist circumference (WC, waist-to-hip ratio (WHR, waist-to-height ratio (WHtR and the conicity index (CI in the detection of cardiovascular risk factors (CVRF in women with PCOS. METHODS: The present

  18. Vagal efferent stimulation protects against Mesobuthus tamulus venom-induced acute respiratory distress syndrome in rats.

    Science.gov (United States)

    Akella, Aparna; Deshpande, Shripad B

    2015-12-15

    Mesobuthus tamulus (MBT) venom and oleic acid (OA) have been shown to produce acute respiratory distress syndrome (ARDS) involving different mechanisms. The role of vagally mediated anti-inflammatory pathway in ARDS is poorly understood. Therefore, the effects of vagal efferent stimulation on these two models of ARDS were examined. Experiments were performed on anesthetized adult rats. Parameters like ventilatory changes (respiratory frequency and minute ventilation), hypoxemic status (PaO2/FiO2 ratio; P/F ratio), survival time, pulmonary water content and histopathological evidences of lung injury were determined to assess the severity of ARDS. In addition, heart rate (HR) and mean arterial pressure (MAP) were monitored. Injection of OA/MBT venom produced respiratory alterations, hypoxemia, pulmonary edema and histopathological changes demonstrating the development of ARDS. In both the groups, animals died around 60 min. Tachypnea and hyperventilation were seen after OA while bradypnea and hypoventilation were seen after MBT venom. Pulmonary edema was absent in vagotomised animals in MBT venom group but not in OA group. Further, electrical stimulation of the cut peripheral ends of vagii prolonged the survival time and attenuated all the parameters of MBT venom-induced ARDS significantly. In case of OA, there was improvement in histopathological changes but the survival time of animals was not prolonged. Stimulation of α7-nicotinic receptors (by pretreatment with GTS-21) exacerbated OA as well as MBT venom-induced ARDS. The present results indicate that vagal efferent stimulation protects against MBT venom-induced ARDS. PMID:26525658

  19. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

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

  20. Cohen Syndrome. A Case Report

    Directory of Open Access Journals (Sweden)

    Elayne Esther Santana Hernández

    2014-04-01

    Full Text Available Cohen syndrome is a rare genetic disease that is transmitted in an autosomal recessive pattern. It is characterized by obesity, hypotonia, mental retardation, microcephaly, typical craniofacial dysmorphism, large and prominent central incisors as well as thin, spindle-shaped fingers. The locus for Cohen syndrome has been located on chromosome 8q 22 (COH 1. Few cases have been reported since its description, it is clinically diagnosed through a proper delineation of the phenotype. The case of 14-year-old patient with this syndrome in whom a clinical diagnosis had not been established thus far is presented. An accurate delineation of the phenotype was achieved at this age and consequently, the correct diagnosis was reached, which is critical in order to provide better genetic counseling to the family.

  1. Compartment syndromes

    Science.gov (United States)

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

    1989-01-01

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

  2. Microcephaly syndromes.

    Science.gov (United States)

    Abuelo, Dianne

    2007-09-01

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

  3. Refeeding syndrome

    Directory of Open Access Journals (Sweden)

    Tripathy Swagata

    2008-01-01

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

  4. Eisenmengers syndrom

    DEFF Research Database (Denmark)

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

    2009-01-01

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

  5. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

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

  6. Rapunzel syndrome

    International Nuclear Information System (INIS)

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

  7. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

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

  8. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

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

  9. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

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

  10. Eagle syndrome

    International Nuclear Information System (INIS)

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

  11. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

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

  12. Morbihan syndrome.

    Science.gov (United States)

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

    2013-04-01

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

  13. Gorlin Syndrome

    Directory of Open Access Journals (Sweden)

    Siroos Risbaf

    2013-01-01

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

  14. Burnout syndrome

    OpenAIRE

    Bábská, Simona

    2014-01-01

    This bachelor thesis deals with the so-called burnout syndrome, which, as I believe, is getting to be a serious problem in today´s busy world. This issue deserves a full attention especially from those concerned – workers in assisting professions. What usually precedes the burnout syndrome is a big enthusiasm and motivation for work in which a potential patient can help other people and get them out of their troubles, sometimes he /she feels even like having a mission. However, without kno...

  15. central t

    Directory of Open Access Journals (Sweden)

    Manuel R. Piña Monarrez

    2007-01-01

    Full Text Available Dado que la Regresión Ridge (RR, es una estimación sesgada que parte de la solución de la regresión de Mínimos Cuadrados (MC, es vital establecer las condiciones para las que la distribución central t de Student que se utiliza en la prueba de hipótesis en MC, sea también aplicable a la regresión RR. La prueba de este importante resultado se presenta en este artículo.

  16. [Cerebral salt wasting syndrome in bacterial meningitis].

    Science.gov (United States)

    Attout, H; Guez, S; Seriès, C

    2007-10-01

    Subarachnoid hemorrhage is the most common cause of cerebral salt wasting syndrome. There are few reports of this condition in infectious meningitis. We describe a patient with hyponatremia and bacterial meningitis. Hyponatremia rapidly improved after administration of sodium chloride. The purpose of this report is to alert clinicians to the fact that hyponatremic patients with central nervous system disease do not necessarily have a syndrome of inappropriate secretion of antidiuretic hormone (SIADH), but may have cerebral salt wasting syndrome. By contrast with SIADH, the treatment requires saline administration.

  17. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

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

    2009-01-01

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

  18. Mesenteric lymph node cavitation syndrome

    Institute of Scientific and Technical Information of China (English)

    Hugh; James; Freeman

    2010-01-01

    The mesenteric lymph node cavitation syndrome consists of central necrosis of mesenteric lymph nodes and may occur with either celiac disease or a sprue-like intestinal disease that fails to respond to a gluten-free diet. Splenic hypofunction may also be present. The cause is not known but its development during the clinical course of celiac disease is usually indicative of a poor prognosis for the intestinal disorder, a potential for signif icant compli-cations including sepsis and malignancy, particularly...

  19. Marfan syndrome masked by Down syndrome?

    OpenAIRE

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

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic expression of Marfan syndrome in our patient might be masked by the co-occurrence of Down syndrome. (Neth Heart J 2009;1...

  20. Metabolic Syndrome

    Science.gov (United States)

    ... If you already have metabolic syndrome, making these healthy lifestyle choices can help reduce your risk of heart disease and other health problems. If lifestyle changes alone can’t control your ... to help. Maintain a healthy weight Your doctor can measure your body mass ...

  1. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

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

  2. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

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

  3. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

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

  4. Tourette Syndrome

    Science.gov (United States)

    ... writing, painting, or making music help focus the mind on other things. There's speculation that the composer Mozart had TS. Find support. The Tourette Syndrome Association sponsors support groups with others who understand the challenges of TS. Take control. People with TS can feel more in control ...

  5. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    a variety of infectious complications. Rapid diagnosis and treatment is necessary to avoid severe complications or death. Close collaboration with local microbiologist is pivotal. Treatment consists of longterm treatment with penicillin and metronidazole. This is a case report of Lemierre's syndrome....

  6. Usher Syndrome

    Science.gov (United States)

    ... of their hearing within the first year of life. Progressive vision loss caused by retinitis pigmentosa becomes occurs in childhood. ... type III have progressive hearing loss and vision loss beginning in the first few decades of life. Unlike the other forms of Usher syndrome, infants ...

  7. Robinow Syndrome

    Directory of Open Access Journals (Sweden)

    Gökhan Gökalp

    2010-05-01

    Full Text Available Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra, costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia. It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic signs that may be severe. The disease presents with kyphoscoliosis and chest abnormalities along with thoracic vertebral fusion and hemivertebral appearance. Ribs may demonstrate fusion. Based on those involvements, the disease can be categorized as spondylothoracic, spondylocostal, ischiovertebral dysplasia, and cervicofaciothoracic syndrome.Diagnosis is established by the help of clinical characteristics. Radiography might contribute to the diagnosis by revealing changes in the skeletal system. Case Report: A three-year-old male patient presented with operated left undescendent testis and buried penis. On physical examination, he also had a dysmorphic face characterized by macrocephaly, hypertelorism, prominent eyes, a flattened nasal bridge, triangular-fish mouth, gingival hypertrophy and left hand clinodactyly. Radiographic examination documented mesomelic shortening of the radius-ulna, malsegmentation of the thoracal spine and the ribs fusion.Conclusion: Robinow syndrome is a rare syndrome which can be diagnosed by typical facial appearance and radiologic findings. (Journal of Current Pediatrics 2010; 8: 44-7

  8. Metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    Charles Shaeffer

    2004-01-01

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

  9. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions are High blood pressure High blood glucose, or blood sugar, levels High levels of triglycerides, a type of fat, in your blood Low ...

  10. [Refeeding syndrome].

    Science.gov (United States)

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

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it. PMID:27088791

  11. Gitelman syndrome.

    NARCIS (Netherlands)

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

    2008-01-01

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

  12. Noonan syndrome.

    NARCIS (Netherlands)

    Burgt, I. van der

    2007-01-01

    Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set

  13. Atrial Ectopic Tachycardia in a Patient With Marfan Syndrome

    OpenAIRE

    Awerbach, Jordan D.; Khatib, Sammy; Moodie, Douglas S.; Snyder, Christopher S.

    2011-01-01

    The fibrillin defect central to Marfan syndrome is believed to affect myocardial conduction and predispose affected patients to various arrhythmias, including ventricular tachycardia, atrial fibrillation, and atrioventricular nodal reentry tachycardia. Here we describe an adult Marfan patient with atrial ectopic tachycardia. To our knowledge, this is the first reported case of atrial ectopic tachycardia in the setting of Marfan syndrome.

  14. Normal Reactions to Orthostatic Stress in Rett Syndrome

    Science.gov (United States)

    Larsson, Gunilla; Julu, Peter O. O.; Engerstrom, Ingegerd Witt; Sandlund, Marlene; Lindstrom, Britta

    2013-01-01

    The aim of this study was to investigate orthostatic reactions in females with Rett syndrome (RTT), and also whether the severity of the syndrome had an impact on autonomic reactions. Based on signs of impaired function of the central autonomic system found in RTT, it could be suspected that orthostatic reactions were affected. The orthostatic…

  15. Rivaroxaban in patients with a recent acute coronary syndrome

    DEFF Research Database (Denmark)

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

    2012-01-01

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

  16. Metabolic Syndrome as a Risk Factor for Elevated Intraocular Pressure

    OpenAIRE

    Sahinoglu-Keskek, Nedime; Keskek, Sakir Ozgur; Cevher, Selim; Kirim, Sinan; Kayiklik, Asim; Ortoglu, Gulay; Saler, Tayyibe

    2014-01-01

    Objective: The aim of this study was to investigate the association between intraocular pressure and metabolic syndrome by comparing central corneal thicknesses. Methods: One hundred sixty-two subjects were enrolled in this cross-sectional study, with 89 subjects in a metabolic syndrome group and 73 subjects in a control group. Ophthalmological examinations, including intraocular pressure and central corneal thickness measurements, were performed on each subject. Serum fasting glucose, trigly...

  17. The Source for Syndromes.

    Science.gov (United States)

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  18. Correlates of obesity-related chronic ventilatory failure

    OpenAIRE

    Stradling, J; Manuel, A; Hart, N.

    2016-01-01

    "Take home" message: It remains unclear why only some obese patients develop hypoventilation syndrome. In the largest cross-sectional study to date, exploring a wide range of potential factors provoking the obesity hypoventilation syndrome, we have found that intra-abdominal obesity and a poor response to hypoxia appear to be the dominant factors associated with hypoventilation, thus providing further insights into the pathophysiology of this condition.The question addressed by the study: ...

  19. Ectopic corticotroph syndrome

    Directory of Open Access Journals (Sweden)

    Penezić Zorana

    2004-01-01

    Full Text Available INTRODUCTION Endogenous Cushing's syndrome is a clinical state resulting from prolonged, inappropriate exposure to excessive endogenous secretion of Cortisol and hence excess circulating free cortisol, characterized by loss of the normal feedback mechanisms of the hypothalamo-pituitary-adrenal axis and the normal circadian rhythm of cortisol secretion [2]. The etiology of Cushing's syndrome may be excessive ACTH secretion from the pituitary gland, ectopic ACTH secretion by nonpituitary tumor, or excessive autonomous secretion of cortisol from a hyperfunctioning adrenal adenoma or carcinoma. Other than this broad ACTH-dependent and ACTH-independent categories, the syndrome may be caused by ectopic CRH secretion, PPNAD, MAH, ectopic action of GIP or catecholamines, and other adrenel-dependent processes associated with adrenocortical hyperfunction. CASE REPORT A 31 year-old men with b-month history of hyperpigmentation, weight gain and proximal myopathy was refereed to Institute of Endocrinology for evaluation of hypercortisolism. At admission, patient had classic cushingoid habit with plethoric face, dermal and muscle atrophy, abdominal strie rubrae and centripetal obesity. The standard laboratory data showed hyperglycaemia and hypokaliemia with high potassium excretion level. The circadian rhythm of cortisol secretion was blunted, with moderately elevated ACTH level, and without cortisol suppression after low-dose and high-dose dexamethason suppression test. Urinary 5HIAA was elevated. Abdominal and sellar region magnetic resonance imaging was negative. CRH stimulation resulted in ACTH increase of 87% of basal, but without significant increase of cortisol level, only 7%. Thoracal CT scan revealed 14 mm mass in right apical pulmonary segment. A wedge resection of anterior segment of right upper lobe was performed. Microscopic evaluation showed tumor tissue consisting of solid areas of uniform, oval cells with eosinophilic cytoplasm and centrally

  20. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

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

  1. Fluency Disorders in Genetic Syndromes

    Science.gov (United States)

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  2. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta

    2007-01-01

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review.

  3. Marfan syndrome.

    OpenAIRE

    Jain, Eesha; Pandey, Ramesh Kumar

    1997-01-01

    Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ sy...

  4. Waardenburg syndrome

    OpenAIRE

    Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

    2004-01-01

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

  5. Waardenburg syndrome

    OpenAIRE

    Tagra Sunita; Talwar Amrita; Walia Rattan Lal; Sidhu Puneet

    2006-01-01

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

  6. Turner Syndrome

    OpenAIRE

    Akcan AB.

    2007-01-01

    Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X. TS is associated with certain physical and medical features including estrogen deficiency, short stature and increased risk for several diseases with cardiac conditions being among the most serious. Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includ...

  7. Robinow Syndrome

    OpenAIRE

    Gökhan Gökalp; Erdal Eren; Zeynep Yazıcı; Halil Sağlam

    2010-01-01

    Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra), costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia). It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic si...

  8. Apert's Syndrome

    OpenAIRE

    Kumar, Gudipaneni Ravi; Jyothsna, Mandapati; Ahmed, Syed Basheer; Sree Lakshmi, Ketham Reddy

    2014-01-01

    ABSTRACT Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma­tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite...

  9. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

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

  10. Asperger syndrome

    OpenAIRE

    Woodbury-Smith, Marc R.; Volkmar, Fred R.

    2008-01-01

    Abstract Asperger syndrome (AS) is a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests. Although not generally associated with intellectual disability, the severe social disability and, in many cases, associated mental health and other medical problems, result in disability throughout life. The diagnosis is often delayed, sometimes into adulthood, which is unfortunate because there are now a range...

  11. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Rachel Bastiaenen

    2011-12-01

    Full Text Available The Brugada syndrome demonstrates characteristic electrocardiogram features and is a significant cause of sudden death in young adults with overtly normal cardiac structure and function. The genetic basis has not yet been fully elucidated but our understanding of the causative mutations and modifiers of arrhythmic events is advancing rapidly alongside sequencing technologies. We expect that the future will include risk stratification according to genotype and management tailored to the genetic diagnosis.

  12. [Fibromyalgia syndrome].

    Science.gov (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  13. Weak central coherence in patients with Alzheimer's disease•

    OpenAIRE

    Mårdh, Selina

    2013-01-01

    Central coherence refers to the ability to interpret details of information into a whole. To date, the concept of central coherence is mainly used in research of autism, Asperger's syndrome and recently in the research on eating disorders. The main purpose of the present study was to examine central coherence in patients with Alzheimer's disease. Nine Alzheimer's disease patients and ten age- and gender-matched control subjects, who differed significantly in neurological assessment, were show...

  14. Reye syndrome - resources

    Science.gov (United States)

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. -- www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke -- www. ...

  15. Narcotic Bowel Syndrome

    Science.gov (United States)

    ... Intolerance Malabsorption Narcotic Bowel Syndrome Radiation Therapy Injury Short Bowel Syndrome Symptoms & Causes Treatments Nutrition and Diet Managing Secondary Effects Medications Surgery Daily Living with SBS Resources SMA Syndrome Volvulus ...

  16. Iliotibial band syndrome - aftercare

    Science.gov (United States)

    IT band syndrome - aftercare; Iliotibial band friction syndrome - aftercare ... If you have iliotibial band syndrome you may notice: Mild pain on the outside of your knee when you begin to exercise, which goes ...

  17. Sexuality and Down Syndrome

    Science.gov (United States)

    ... NDSS Home » Resources » Wellness » Sexuality » Sexuality & Down Syndrome Sexuality & Down Syndrome Human sexuality encompasses an individual's self- ... community standards for adult behavior. How Can Healthy Sexuality be Encouraged for Individuals with Down Syndrome? Creating ...

  18. Antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.

    2010-01-01

    Full Text Available Antiphospholipid syndrome (APS is an autoimmune disease with recurrent thromboses and pregnancy complications (90% are female patients that can be primary and secondary (with concomitant autoimmune disease. Antiphospholipid antibodies are prothrombotic but also act directly with brain tissue. One clinical and one laboratory criterion is necessary for the diagnosis of APS. Positive serological tests have to be confirmed after at least 12 weeks. Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome. About 50% of strokes below 50 years of age are caused by APS. The first line of therapy in stroke is anticoagulation: intravenous heparin or low-weight heparins. In chronic treatment, oral anticoagulation and antiplatelet therapy are used, warfarin and aspirin, mostly for life. In resistant cases, corticosteroids, intravenous immunoglobulins and plasmapheresis are necessary. Prognosis is good in most patients but some are treatment-resistant with recurrent thrombotic events and eventually death.

  19. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2014-06-01

    Full Text Available We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were confined to the fingers (sclerodactyly. Direct X-ray graphy demonstrated calcinosis cutis on the left hand and suprapatellar region. She was treated with nifedipine 30 mg/day, acetylsalicylic acid 100 mg/day for Raynaud’s phenomenon and famotidine 40 mg/day, metoclopramide HCL 30 mg/day for oesophageal dysmotility. Her complaints were partially relieved after the treatment. This case had all of the five major symptoms of CREST syndrome, and we aimed to emphasize the major symptoms and complications of CREST syndrome. (Turk J Dermatol 2012; 6: 48-50

  20. Inherited ichthyosis: Syndromic forms.

    Science.gov (United States)

    Yoneda, Kozo

    2016-03-01

    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.

  1. Diet, Sleep and Metabolic Syndrome Among a Legal Amazon Population, Brazil

    OpenAIRE

    dos Santos, Poliana Rodrigues; Ferrari, Graziele Souza Lira; Ferrari, Carlos K B

    2015-01-01

    Metabolic syndrome incidence is increasing worldwide then it is important to study the possible risk and protective factors. Our previous study suggested an association between coffee consumption and metabolic syndrome. The aim of this study was to address possible associations between dietary lifestyle factors with metabolic syndrome. In a case-control study we compared 74 metabolic syndrome patients with 176-matched controls attended at a public health central unit. Incident cases diagnosed...

  2. The Sympathetic Nervous System in the Pathogenesis of Takotsubo Syndrome.

    Science.gov (United States)

    Wittstein, Ilan S

    2016-10-01

    Takotsubo syndrome is a unique clinical condition of acute heart failure and reversible left ventricular dysfunction frequently precipitated by sudden emotional or physical stress. There is growing evidence that exaggerated sympathetic stimulation is central to the pathogenesis of this syndrome. Precisely how catecholamines mediate myocardial stunning in takotsubo syndrome remains incompletely understood; but possible mechanisms include epicardial spasm, microvascular dysfunction, direct adrenergic-receptor-mediated myocyte injury, and systemic vascular effects that alter ventricular-arterial coupling. Risk factors that increase sympathetic tone and/or catecholamine sensitivity may render individuals particularly susceptible to takotsubo syndrome during episodes of acute stress. PMID:27638019

  3. Solitary Median Maxillary Central Incisor Versus Agenesis of the Maxillary Central Incisor.

    Science.gov (United States)

    de Carvalho, Fabrício Kitazono; Arid, Juliana; De Rossi, Andiara; Paula-Silva, Francisco W G; Nelson-Filho, Paulo

    2016-01-01

    A solitary median maxillary central incisor (SMMCI) is rare and affected individuals may carry a potentially serious condition known as SMMCI syndrome. However, many of these cases do not receive proper attention because they are misdiagnosed as agenesis of the maxillary central incisor. The purpose of this manuscript is to report two cases of children with only one maxillary central incisor and draw diagnostic differences between the entities. A correct diagnosis is very important because if an SMMCI is confirmed, the patient should be referred for genetic counseling. PMID:27098718

  4. Autoimmune diseases in women with Turner's syndrome

    DEFF Research Database (Denmark)

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

    2010-01-01

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

  5. Morvan Syndrome

    Science.gov (United States)

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

    2016-01-01

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

  6. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Jan Lata

    2012-01-01

    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension.This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys,where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration,which ultimately results in uraemia.The syndrome occurs almost exclusively in patients with ascites.Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output.Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure,but refractory ascites,and its impact on prognosis is less negative.Liver transplantation is the most appropriate therapeutic method,nevertheless,only a few patients can receive it.The most suitable "bridge treatments" or treatment for patients ineligible for a liver transplant include terlipressin plus albumin.Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response.Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term.Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS.

  7. Rett Syndrome

    OpenAIRE

    Sitholey, Prabhat; Agarwal, Vivek; Srivastava, Rohit

    2012-01-01

    Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a t...

  8. [Ascher's syndrome].

    Science.gov (United States)

    Halling, F; Sandrock, D; Merten, H A; Hönig, J F

    1991-01-01

    Ascher's syndrome is composed of the triad blepharochalasis, double lip and goitre. In many of the cases reported in the literature this typical constellation of symptoms is not complete; particularly the struma is not mandatorily involved. A 58-year-old patient with this rare disease who exhibited blepharochalasis and double upper and lower lip is presented. Additionally, subclinical hypothyroidism and alopecia areata totalis were found. In differential diagnosis other causes of double lips or enlargement of the lips must be considered. PMID:1817784

  9. [Piriformis syndrome].

    Science.gov (United States)

    Erauso, Thomas; Pégorie, Anne; Gaveau, Yves-Marie; Tardy, Dominique

    2010-09-20

    Sciatic pain is often misleading and establishing the link with a local muscular cause can be difficult and lead to errors, especially when faced with a young sportsman, with typical discogenic pain. Simple, specific and reproducible tests enable a better identification and treatment of a muscular cause or canal syndrome. Physiotherapy, or local infiltrations are generally very efficient, and sufficient. Surgery may be considered only in a very limited number of cases, lack of response to the first line treatment and then only if it is the absolute diagnosis, diagnosis which must remain a diagnosis of exception, more so of exclusion. PMID:21033479

  10. Griscelli syndrome.

    Science.gov (United States)

    Ariffin, H; Geikowski, A; Chin, T F; Chau, D; Arshad, A; Abu Bakar, K; Krishnan, S

    2014-08-01

    We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This nonsense mutation causes premature truncation of the protein resulting in a dysfunctional RAB27A. Recognition of GS allows appropriate institution of therapy namely chemotherapy for HLH and curative haemotopoeitic stem cell transplantation. PMID:25500851

  11. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

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

  12. CREST Syndrome

    OpenAIRE

    Tuğçe Köksüz; Zeynep Nurhan Saraçoğlu; Ayşe Esra Koku-Aksu; İlham Sabuncu; Cengiz Korkmaz

    2014-01-01

    We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia) with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were ...

  13. Refeeding syndrome.

    Science.gov (United States)

    Fuentebella, Judy; Kerner, John A

    2009-10-01

    Refeeding syndrome (RFS) is the result of aggressive enteral or parenteral feeding in a malnourished patient, with hypophosphatemia being the hallmark of this phenomenon. Other metabolic abnormalities, such as hypokalemia and hypomagnesemia, may also occur, along with sodium and fluid retention. The metabolic changes that occur in RFS can be severe enough to cause cardiorespiratory failure and death. This article reviews the pathophysiology, the clinical manifestations, and the management of RFS. The key to prevention is identifying patients at risk and being aware of the potential complications involved in rapidly reintroducing feeds to a malnourished patient.

  14. Myofascial syndrome

    Directory of Open Access Journals (Sweden)

    Giancarlo Carli

    2008-12-01

    Full Text Available Myofascial pain syndrome is common cause one of musculoskeletal pain and it is characterized by trigger points (TP, limited range of motion in joints and local twitch response (LTR during mechanical stimulation of the TP. Trigger point is a hyperirritable spot in skeletal muscle that is associated with a hypersensitive palpable nodule in a taut band. The spot is tender when pressed and can give rise to characteristic referred pain, motor dysfunction and autonomic phenomena. Palpation is reliable diagnostic criterion for locating TP in patients. Treatment is based on anesthetise TP, stretch and spray, local pression and physical activity.

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

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

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

  16. A case of Joubert syndrome

    International Nuclear Information System (INIS)

    Joubert et al. first reported a familial syndrome which showed episodic tachypena, abnormal eye movement, mental and motor retardation. Since then eighteen cases have been reported in the world. In this paper, we reported a male baby with Joubert syndrome who was observed since the newborn period. He showed episodic tachypnea (respiratory rate over 100/min), apnea, severe mental and motor retardation, no normal eye movements, occipital meningocele, high arched palate and poor sucking. CT scan revealed vermian agenesis, hypoplasia and deformity of brainstem, enlarged fourth ventricle and cisterna magna. EEG showed episodic discharges. Laboratory test investigations including amino acids, lactate, pyruvate, ammonia, chromosomal analysis, IVP and renogram showed no abnormal findings. He showed poor development and at eleventh month of age he died at home because of respiratory arrest. Similar syndromes were reported by Koya et al., Dekaban, Gardner et al., D'Agostino et al. and Friede. They reported syndromes consisting of abnormal respiration, abnormal eye movements, mental and motor retardation, occipital meningocele, retinal degeneration and polycystik kidney. Some causative events may have occurred at 6 to 7 weeks of gestation affecting central nervous system as well as other organs. (author)

  17. Neuroimaging experience in pediatric Horner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kadom, Nadja [Boston University School of Medicine, Department of Radiology, Boston University Medical Center, Boston, MA (United States); Rosman, N.P. [Boston Medical Center, Division of Pediatric Neurology, Departments of Pediatrics and Neurology, Boston University School of Medicine, Boston, MA (United States); Jubouri, Shams; Trofimova, Anna; Egloff, Alexia M. [Children' s National Medical Center, Department of Radiology and Diagnostic Imaging, Washington, DC (United States); Zein, Wadih M. [National Eye Institute (NEI), Bethesda, MD (United States)

    2015-09-15

    Horner syndrome in children is rare. The frequency and spectrum of malignancy as the cause of Horner syndrome in children remains unclear. Also unclear is whether the imaging work-up should include the entire oculo-sympathetic pathway or should be more targeted. In addition, the value of cross-sectional angiographic imaging in Horner syndrome is uncertain. To review imaging pathology in a cohort of children with Horner syndrome at a major academic pediatric medical center. We reviewed a 22-year period of CT and MR imaging studies in children with a clinical diagnosis of Horner syndrome referred for imaging. We found 38 patients who fulfilled study criteria of Horner syndrome and 6/38 had relevant imaging findings: 2/6 etiologies were neoplastic (congenital neuroblastoma and central astrocytoma), 1/6 had a vascular abnormality (hypoplastic carotid artery), 1/6 had maldevelopment (Chiari I malformation), and 2/6 had inflammatory/traumatic etiology (viral cervical lymphadenopathy, post jugular vein cannulation). There was a similar number of congenital and acquired pathologies. The malignancies were found at any level of the oculosympathetic pathway. There are treatable causes, including malignancies, in children presenting with Horner syndrome, which justify imaging work-up of the entire oculosympathetic pathway, unless the lesion level can be determined clinically. (orig.)

  18. Neuroimaging experience in pediatric Horner syndrome

    International Nuclear Information System (INIS)

    Horner syndrome in children is rare. The frequency and spectrum of malignancy as the cause of Horner syndrome in children remains unclear. Also unclear is whether the imaging work-up should include the entire oculo-sympathetic pathway or should be more targeted. In addition, the value of cross-sectional angiographic imaging in Horner syndrome is uncertain. To review imaging pathology in a cohort of children with Horner syndrome at a major academic pediatric medical center. We reviewed a 22-year period of CT and MR imaging studies in children with a clinical diagnosis of Horner syndrome referred for imaging. We found 38 patients who fulfilled study criteria of Horner syndrome and 6/38 had relevant imaging findings: 2/6 etiologies were neoplastic (congenital neuroblastoma and central astrocytoma), 1/6 had a vascular abnormality (hypoplastic carotid artery), 1/6 had maldevelopment (Chiari I malformation), and 2/6 had inflammatory/traumatic etiology (viral cervical lymphadenopathy, post jugular vein cannulation). There was a similar number of congenital and acquired pathologies. The malignancies were found at any level of the oculosympathetic pathway. There are treatable causes, including malignancies, in children presenting with Horner syndrome, which justify imaging work-up of the entire oculosympathetic pathway, unless the lesion level can be determined clinically. (orig.)

  19. Morvan's syndrome with anti contactin associated protein like 2 – voltage gated potassium channel antibody presenting with syndrome of inappropriate antidiuretic hormone secretion

    Directory of Open Access Journals (Sweden)

    Anjani Kumar Sharma

    2016-01-01

    Full Text Available Morvan's syndrome is a rare autoimmune disorder characterized by triad of peripheral nerve hyperexcitability, autonomic dysfunction, and central nervous system symptoms. Antibodies against contactin-associated protein-like 2 (CASPR2, a subtype of voltage-gated potassium channel (VGKC complex, are found in a significant proportion of patients with Morvan's syndrome and are thought to play a key role in peripheral as well as central clinical manifestations. We report a patient of Morvan's syndrome with positive CASPR2–anti-VGKC antibody having syndrome of inappropriate antidiuretic hormone as a cause of persistent hyponatremia.

  20. Morvan's syndrome with anti contactin associated protein like 2 – voltage gated potassium channel antibody presenting with syndrome of inappropriate antidiuretic hormone secretion

    Science.gov (United States)

    Sharma, Anjani Kumar; Kaur, Manminder; Paul, Madhuparna

    2016-01-01

    Morvan's syndrome is a rare autoimmune disorder characterized by triad of peripheral nerve hyperexcitability, autonomic dysfunction, and central nervous system symptoms. Antibodies against contactin-associated protein-like 2 (CASPR2), a subtype of voltage-gated potassium channel (VGKC) complex, are found in a significant proportion of patients with Morvan's syndrome and are thought to play a key role in peripheral as well as central clinical manifestations. We report a patient of Morvan's syndrome with positive CASPR2–anti-VGKC antibody having syndrome of inappropriate antidiuretic hormone as a cause of persistent hyponatremia.

  1. Morvan's syndrome with anti contactin associated protein like 2 – voltage gated potassium channel antibody presenting with syndrome of inappropriate antidiuretic hormone secretion

    Science.gov (United States)

    Sharma, Anjani Kumar; Kaur, Manminder; Paul, Madhuparna

    2016-01-01

    Morvan's syndrome is a rare autoimmune disorder characterized by triad of peripheral nerve hyperexcitability, autonomic dysfunction, and central nervous system symptoms. Antibodies against contactin-associated protein-like 2 (CASPR2), a subtype of voltage-gated potassium channel (VGKC) complex, are found in a significant proportion of patients with Morvan's syndrome and are thought to play a key role in peripheral as well as central clinical manifestations. We report a patient of Morvan's syndrome with positive CASPR2–anti-VGKC antibody having syndrome of inappropriate antidiuretic hormone as a cause of persistent hyponatremia. PMID:27695240

  2. Myasthenic syndromes.

    Science.gov (United States)

    Farrugia, M E

    2011-03-01

    The neuromuscular junction is vulnerable to autoimmune attack both at the pre-synaptic nerve terminal and at the post-synaptic muscle membrane. Antibodies directed to the nicotinic acetylcholine receptor at the muscle surface are the cause of myasthenia gravis in the majority of cases. Myasthenia gravis is an acquired condition, characterised by weakness and fatigability of the skeletal muscles. The ocular muscles are commonly affected first, but the disease often generalises. Treatment includes symptom control and immunosuppression. The thymus gland plays an important role in the pathogenesis of myasthenia gravis and thymectomy is indicated in certain subgroups. Lambert-Eaton myasthenic syndrome is associated with antibodies directed to the voltage-gated calcium channel antibodies at the pre-synaptic nerve terminal. It is an acquired condition and, in some cases, may be paraneoplastic, often secondary to underlying small cell lung carcinoma. Clinical presentation is distinct from myasthenia gravis, with patients often first presenting with lower limb muscle fatigability and autonomic symptoms. Congenital myasthenic syndromes are inherited neuromuscular disorders due to mutations in proteins at the neuromuscular junction. Various phenotypes exist depending on the protein mutation. Treatment is directed towards symptom control and immunosuppression is not indicated. PMID:21365067

  3. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

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

  4. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... Tropical Delight: Melon Smoothie Pregnant? Your Baby's Growth Marfan Syndrome KidsHealth > For Parents > Marfan Syndrome Print A ... the Doctor en español Síndrome de Marfan About Marfan Syndrome Marfan syndrome is a progressive genetic disorder ...

  5. GORDON SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Rita

    2015-03-01

    Full Text Available BACKGROUND: Gordon Syndrome is an extremely rare disorder and it is part of a group of genetic disorders known as Arthrogryposis multiplex congenita. There are congenital contractures in at least two or more areas of body. Gordon Syndrome is characterized by congenital Camptodactyly, Clubfoot and Cleft Palate. CASE CHARACTERISTICS: One month female baby presented with congenital distal contra ctures in hands ( C amptodactyly, talipes equinovarus deformity in both lower limbs ( C lub feet, hyperextension of left leg at knee joint, central cleft palate, oral thrush. INTERVENTION: Treatment of oral thrush, feeding advice and physiotherapy. OUTCOME: Relieved of oral thrush, weight gain started and attached to Plastic Surgery, Orthopedic and Physiotherapy Specialties. MESSAGE: Sporadic cases of this rare disorder do occur and not many cases have been reported from India.

  6. Health, social and economical consequences of sleep-disordered breathing

    DEFF Research Database (Denmark)

    Jennum, Poul; Kjellberg, Jakob

    2011-01-01

    The objective direct and indirect costs of sleep-disordered breathing (snoring, sleep apnoea (SA) and obesity hypoventilation syndrome (OHS)) and the treatment are incompletely described.......The objective direct and indirect costs of sleep-disordered breathing (snoring, sleep apnoea (SA) and obesity hypoventilation syndrome (OHS)) and the treatment are incompletely described....

  7. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

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

    2014-01-01

    -intestinal symptoms and types of cancers differs.Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as......-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner.The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family...

  8. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno

    2008-05-01

    Full Text Available Abstract LEOPARD syndrome (LS, OMIM 151100 is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS, chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should

  9. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. PMID:26280343

  10. Study of central coherence in children with high functioning autism and asperger syndrome%高功能孤独症和Asperger综合征儿童的中央凝聚性研究

    Institute of Scientific and Technical Information of China (English)

    李咏梅; 邹小兵; 李建英; 唐春; 邓红珠; 李巧毅; 陈凯云; 邹圆圆; 鄢月华

    2006-01-01

    [目的]探讨高功能孤独症(high function autism,HFA)和Asperger综合征(Asperger syndrom,AS)儿童在中央凝聚性方面的认知神经心理特征,为其治疗提供理论依据.[方法]应用视觉和言语语义记忆任务和木块图形测验分别对19例学龄前及学龄期HFA儿童、26例AS儿童和20例正常健康儿童(normal controls,NC)进行测试,为其治疗提供理论依据.[结果]在视觉模式或言语模式下,给予语义相关系列的刺激时,三组儿童组能回忆的正确图片或词语数目均比非相关系列刺激能回忆正确的图片或词语数目显著增多(P<0.05);各组儿童在视觉模式下能回忆的图片数目均比在言语模式下能回忆的词语数目显著增多(P<0.01);HFA组儿童在视觉模式相对言语的记忆优势比正常组更明显.HFA组木块图量表分明显低于正常儿童组(P<0.05),AS组量表分与正常儿童组差异无显著性(P>0.05).[结论]学龄前及学龄期HFA和AS儿童的中央凝聚性薄弱并不明显,推测HFA和AS患者的中央凝聚性薄弱的认知特征可能会随着年龄的增长逐渐明显.

  11. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. PMID:27250821

  12. Central venous line - infants

    Science.gov (United States)

    CVL - infants; Central catheter - infants - surgically placed ... plastic tube that is put into a large vein in the chest. WHY IS A ... central catheter (PICC) or midline central catheter (MCC). A CVL ...

  13. [Hepatopulmonary syndrome].

    Science.gov (United States)

    Thévenot, Thierry; Weil, Delphine; Garioud, Armand; Lison, Hortensia; Cadranel, Jean-François; Degano, Bruno

    2016-05-01

    Hepatopulmonary syndrome (HPS) is defined by the association of portal hypertension, increased alveolar-arterial oxygen gradient and intrapulmonary vascular dilations. Pathophysiological mechanisms of hypoxemia are characterized by ventilation-perfusion mismatch, oxygen diffusion limitation between alveolus and the centre of the dilated capillary, and right-to-left shunting. An excess of vasodilator molecules (like nitric monoxide) and proangiogenic factors (like VEGF) play an important role in the occurrence of HPS. Symptoms of HPS are not specific and dominated by a progressive dyspnea in upright position. Pulse oximetry is a simple non-invasive screening test but only detect the most severe forms of HPS. Medical treatment is disappointing and only liver transplantation may lead to resolution of HPS. Survival following liver transplantation is promising when hypoxemia is not severely decreased. PMID:27021476

  14. Antiphospholipid syndrome.

    Science.gov (United States)

    George, Diane; Erkan, Doruk

    2009-01-01

    The antiphospholipid syndrome (APS) is an autoimmune systemic disease that is diagnosed when there is vascular thrombosis and/or pregnancy morbidity occurring with persistently positive antiphospholipid antibodies (aPL) (lupus anticoagulant test, anticardiolipin antibodies, and/or anti-beta(2)-glycoprotein I antibodies). Although International APS Classification Criteria have been formulated to provide a uniform approach to APS research, aPL may cause a spectrum of clinical manifestations, some of which are not included in these criteria. The main aPL-related cardiac manifestations include valve abnormalities (vegetations and/or thickening), myocardial infarction (MI), intracardiac thrombi, and myocardial microthrombosis. In this article, we will review the definition, etiopathogenesis, clinical manifestations, diagnosis, and treatment of aPL-related clinical events with emphasis on cardiac manifestations. PMID:19732604

  15. 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

  16. Mitochondrial Dysfunction in Metabolic Syndrome and Asthma

    Directory of Open Access Journals (Sweden)

    Ulaganathan Mabalirajan

    2013-01-01

    Full Text Available 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.

  17. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

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

  18. 2013 Space Radiation Standing Review Panel Status Review for: The Risk of Acute and Late Central Nervous System Effects from Radiation Exposure, The Risk of Acute Radiation Syndromes Due to Solar Particle Events (SPEs), The Risk Of Degenerative Tissue Or Other Health Effects From Radiation Exposure, and The Risk of Radiation Carcinogenesis

    Science.gov (United States)

    2014-01-01

    The Space Radiation Standing Review Panel (from here on referred to as the SRP) was impressed with the strong research program presented by the scientists and staff associated with NASA's Space Radiation Program Element and National Space Biomedical Research Institute (NSBRI). The presentations given on-site and the reports of ongoing research that were provided in advance indicated the potential Risk of Acute and Late Central Nervous System Effects from Radiation Exposure (CNS) and were extensively discussed by the SRP. This new data leads the SRP to recommend that a higher priority should be placed on research designed to identify and understand these risks at the mechanistic level. To support this effort the SRP feels that a shift of emphasis from Acute Radiation Syndromes (ARS) and carcinogenesis to CNS-related endpoints is justified at this point. However, these research efforts need to focus on mechanisms, should follow pace with advances in the field of CNS in general and should consider the specific comments and suggestions made by the SRP as outlined below. The SRP further recommends that the Space Radiation Program Element continue with its efforts to fill the vacant positions (Element Scientist, CNS Risk Discipline Lead) as soon as possible. The SRP also strongly recommends that NASA should continue the NASA Space Radiation Summer School. In addition to these broad recommendations, there are specific comments/recommendations noted for each risk, described in detail below.

  19. Neuroimaging in Restless Legs Syndrome.

    Science.gov (United States)

    Provini, Federica; Chiaro, Giacomo

    2015-09-01

    Neuroimaging studies are of crucial relevance in defining the pathophysiology of restless legs syndrome (RLS). MRI studies showed no structural brain lesions and confirmed a central iron deficiency. Structural and functional studies showed an involvement of the thalamus, sensorimotor cortical areas, and cerebellum in RLS and assessed neurotransmission abnormalities in the dopaminergic and opiate systems. Finally, glutamatergic hyperactivity has been proposed as a cause of disrupted and shortened sleep in RLS. Differences among the results of the studies make it difficult to draw any definitive conclusions, thus, suggesting the need for future research.

  20. The fat embolism syndrome. A review.

    Science.gov (United States)

    Levy, D

    1990-12-01

    While fat embolism occurs in most (more than 90%) patients with traumatic injury, the fat embolism syndrome (FES) occurs in only 3%-4% of patients with long-bone fractures. FES involves multiple organ systems and can cause a devastating clinical deterioration within hours. The major clinical features of FES include hypoxia, pulmonary edema, central nervous system depression, and axillary or subconjunctive petechiae. Improvements have been made in supporting the respiratory compromise and adult respiratory distress syndrome that these patients develop. Aggressive measures to improve the pulmonary function, i.e., positive pressure ventilation and effective fluid management, are important and expedite fixation of bone fractures. PMID:2245559

  1. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions Rett syndrome Rett syndrome Enable Javascript to view the expand/collapse ... autism-dementia-ataxia-loss of purposeful hand use syndrome Rett disorder Rett's disorder Rett's syndrome RTS RTT Related ...

  2. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    PRENATAL TESTS FOR DOWN SYNDROME S HARE W ITH W OMEN PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? ... suggests that you consult your health care provider. PRENATAL TESTS FOR DOWN SYNDROME 256 Volume 50, No. ...

  3. Nevoid Basal Cell Carcinoma Syndrome

    Science.gov (United States)

    ... Nevoid Basal Cell Carcinoma Syndrome Request Permissions Nevoid Basal Cell Carcinoma Syndrome Approved by the Cancer.Net Editorial Board , 04/2016 What is Nevoid Basal Cell Carcinoma Syndrome? Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is ...

  4. Acute respiratory distress syndrome associated with tumor lysis syndrome in a child with acute lymphoblastic leukemia

    Directory of Open Access Journals (Sweden)

    Alessandra Macaluso

    2015-03-01

    Full Text Available Tumor lysis syndrome is a serious and dangerous complication usually associated with antiblastic treatment in some malignancies characterized by high cell turn-over. Mild or severe electrolyte abnormalities including high serum levels of uric acid, potassium, phosphorus, creatinine, bun and reduction of calcium can be responsible for multi-organ failure, involving mostly kidneys, heart and central nervous system. Renal damage can be followed by acute renal failure, weight gain, progressive liver impairment, overproduction of cytokines, and subsequent maintenance of multi-organ damage. Life-threatening acute respiratory failure associated with tumor lysis syndrome is rare. We describe a child with T-cell acute lymphoblastic leukemia, who developed an unusually dramatic tumor lysis syndrome, after administration of the first low doses of steroid, that was rapidly associated with severe acute respiratory distress syndrome. Subsequent clinical course and treatment modalities that resulted in the gradual and full recovery of the child are also described.

  5. Acute respiratory distress syndrome associated with tumor lysis syndrome in a child with acute lymphoblastic leukemia.

    Science.gov (United States)

    Macaluso, Alessandra; Genova, Selene; Maringhini, Silvio; Coffaro, Giancarlo; Ziino, Ottavio; D'Angelo, Paolo

    2015-02-24

    Tumor lysis syndrome is a serious and dangerous complication usually associated with antiblastic treatment in some malignancies characterized by high cell turn-over. Mild or severe electrolyte abnormalities including high serum levels of uric acid, potassium, phosphorus, creatinine, bun and reduction of calcium can be responsible for multi-organ failure, involving mostly kidneys, heart and central nervous system. Renal damage can be followed by acute renal failure, weight gain, progressive liver impairment, overproduction of cytokines, and subsequent maintenance of multi-organ damage. Life-threatening acute respiratory failure associated with tumor lysis syndrome is rare. We describe a child with T-cell acute lymphoblastic leukemia, who developed an unusually dramatic tumor lysis syndrome, after administration of the first low doses of steroid, that was rapidly associated with severe acute respiratory distress syndrome. Subsequent clinical course and treatment modalities that resulted in the gradual and full recovery of the child are also described. PMID:25918625

  6. Pain in Down's Syndrome

    Directory of Open Access Journals (Sweden)

    Federica Mafrica

    2006-01-01

    Full Text Available Pain is a homeostatic mechanism that intervenes to protect the organism from harmful stimuli that could damage its integrity. It is made up of two components: the sensory-discriminative component, which identifies the provenance and characteristics of the type of pain; and the affective-motivational component, on which emotional reflexes, following the painful sensation, depend.There is a system for pain control at an encephalic and spinal level, principally made up of the periaqueductal grey matter, the periventricular area, the nucleus raphe magnus, and the pain-inhibition complex situated in the posterior horns of the spinal cord. Through the activation of these pain-control systems, the nervous system suppresses the afference of pain signals. Endogenous opioids represent another analgesic system.In the course of various studies on pain transmission in Down patients, the reduced tolerance of pain and the incapacity to give a qualitative and quantitative description emerged in a powerful way. All of these aspects cause difficulty in evaluating pain. This is linked to several learning difficulties. However, it cannot be excluded that in these anomalies of pain perception, both the anatomical and the neurotransmitter alteration, typical of this syndrome, may hold a certain importance.This fact may have important clinical repercussions that could affect the choice of therapeutic and rehabilitative schemes for treatment of pathologies in which pain is the dominant symptom, such as postoperative pain. It could influence research on analgesics that are more suitable for these patients, the evaluation of the depth of analgesia during surgical operation, and ultimately, absence of obvious pain manifestations. In conclusion, alterations of the central nervous system, neurotransmitters, pain transmission, and all related problems should be considered in the management of pain in patients with Down's syndrome, especially by algologists and

  7. Mowat-Wilson syndrome.

    Science.gov (United States)

    Garavelli, Livia; Mainardi, Paola Cerruti

    2007-01-01

    Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. The prevalence of MWS is currently unknown, but 171 patients have been reported so far. It seems probable that MWS is under-diagnosed, particularly in patients without HSCR. MWS is caused by heterozygous mutations or deletions in the Zinc finger E-box-binding homeobox 2 gene, ZEB2, previously called ZFHX1B (SIP1). To date, over 100 deletions/mutations have been reported in patients with a typical phenotype; they are frequently whole gene deletions or truncating mutations, suggesting that haploinsufficiency is the main pathological mechanism. Studies of genotype-phenotype analysis show that facial gestalt and delayed psychomotor development are constant clinical features, while the frequent and severe congenital malformations are variable. In a small number of patients, unusual mutations can lead to an atypical phenotype. The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark warranting ZEB2 mutational analysis, even in the absence of HSCR. The majority of MWS cases reported so far were sporadic, therefore the recurrence risk is low. Nevertheless, rare cases of sibling recurrence have been observed. Congenital malformations and seizures require precocious clinical

  8. Mowat-Wilson syndrome

    Directory of Open Access Journals (Sweden)

    Mainardi Paola

    2007-10-01

    Full Text Available Abstract Mowat-Wilson syndrome (MWS is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin, moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR, genitourinary anomalies (in particular hypospadias in males, congenital heart defects, agenesis of the corpus callosum and eye anomalies. The prevalence of MWS is currently unknown, but 171 patients have been reported so far. It seems probable that MWS is under-diagnosed, particularly in patients without HSCR. MWS is caused by heterozygous mutations or deletions in the Zinc finger E-box-binding homeobox 2 gene, ZEB2, previously called ZFHX1B (SIP1. To date, over 100 deletions/mutations have been reported in patients with a typical phenotype; they are frequently whole gene deletions or truncating mutations, suggesting that haploinsufficiency is the main pathological mechanism. Studies of genotype-phenotype analysis show that facial gestalt and delayed psychomotor development are constant clinical features, while the frequent and severe congenital malformations are variable. In a small number of patients, unusual mutations can lead to an atypical phenotype. The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark warranting ZEB2 mutational analysis, even in the absence of HSCR. The majority of MWS cases reported so far were sporadic, therefore the recurrence risk is low. Nevertheless, rare cases of sibling recurrence have been observed. Congenital malformations and seizures require

  9. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome. PMID:27209717

  10. Mobbing syndrome

    Directory of Open Access Journals (Sweden)

    Sakoula Z.

    2014-07-01

    Full Text Available Introduction: The term mobbing comes from the English word mob, meaning attack, Compass bother. Today is the systematic psychological attack and a strategic marginalization accepted at the workplace from their superiors or colleagues unwanted, for various reasons, employees. The term was used in 1800 by British biology, description of aggressive behavior in flight, certain species of migratory birds. In 1900, ethologist Konrad Lorenz uses it to interpret the hostility of the majority of the herd, compared to lean animals of the same breed. The German psychologist Heinz Leyman, is the first, which is in the 80s, attributes the condition in human society, describing all the negative health effects of mobbing in the workplace as a "syndrome mobbing». Purpose: To work is to illustrate the phenomenon mobbing, which can appear as a problem in the relationship of the perpetrator to the victim, but also implies the presence of such conditions to occur and flourish. Literature Review: searched the literature, internet, Keyword: Work or Employee Abuse, Mistreatment, Emotional Abuse, Bossing, Victimization, Intimidation, Psychological terrorization, Psychological violence. The mobbing syndrome is defined as "repeated abusive behavior, manifested through actions, words, intimidation, acts, gestures, ways of organizing work and have the character or purpose to offend the personality, dignity or physical or mental integrity of the worker in the performance of his work, to jeopardize the employment status or to create a hostile, intimidating, degrading, humiliating or offensive working environment. According to the French psychiatrist Marie France Hirigoyen, the "offender" is a personality that satisfied 'hurting' his fellows and develops self-esteem, conveying to others the "pain" that cannot feel, but also the internal contradictions that refuses edited. Conclusions: the mobbing is the reason for the development of mental and physical diseases as an

  11. To centralize or not to centralize?

    OpenAIRE

    Campbell, Andrew; Kunisch, Sven; Müller-Stewens, Günter

    2011-01-01

    The CEO's dilemma-were the gains of centralization worth the pain it could cause?-is a perennial one. Business leaders dating back at least to Alfred Sloan, who laid out GM's influential philosophy of decentralization in a series of memos during the 1920s, have recognized that badly judged centralization can stifle initiative, constrain the ability to tailor products and services locally, and burden business divisions with high costs and poor service.1 Insufficient centralization can deny bus...

  12. 肾综合征出血热中枢神经系统损害168例回顾性分析%Retrospective analysis of 168 cases of patients with hemorrhagic fever and renal syndrome erupts simultaneously central nervous system damage

    Institute of Scientific and Technical Information of China (English)

    吕国良; 于渤; 包叔平; 周文兴

    2013-01-01

    目的 探讨肾综合征出血热患者并发中枢神经系统损害的临床特点.方法 回顾性分析1998 ~ 2010年间于辽宁医学院附属第一医院住院治疗,并发中枢神经系统损害的肾综合征出血热患者168例.结果 并发中枢神经系统损害的肾综合征出血热患者可出现意识障碍、癫痫发作、脑膜刺激征阳性、精神失常等多种临床表现.轻、中、重及危重型患者均可出现中枢神经系统损害,重型及危重型患者分别占42.9%和38.7%.此外,各年龄段均可出现中枢神经系统损害,其中60岁以上的老年人所占比例高达51.8%.虽经积极的内科综合治疗,其病死率仍高达31.0%.结论 合并中枢神经系统损害的肾综合征出血热患者病情重,病死率高,一旦出现,需引起足够重视.%Objective To study the clinical characteristics of patients and hemorrhagic fever and renal syndrome ( HFRS) eruptssimultaneously central nervous system damage. Methods Clinical data of 168 HFRS patients erupted simultaneously central nervous system damage and hospitalized in first affiliated hospital of Liaoning medical university from 1998 to 2010 were analyzed. Results Many clinical manifestations including disturbance of consciousness, seizures, positive signs of meningeal irritation and psychiatric disorders could be occurred. Central nervous system damage can occur in slight, medium, serious and clinical HFRS patients; in addition, serious and critical types occupied the main incidence, which were 42. 9% and 38. 7% respectively. All ages of HFRS patients have the risk of suffering central nervous system damage; Percentage of people older than 60 years was up to 51.8%. Mortality remained as high as 31.0% even after active internal medical treatment. Conclusion High mortality and critical condition always appeared in patients of HFRS erupts simultaneously central nervous system damage on which should be paid more attention in clinical work.

  13. Leigh syndrome

    International Nuclear Information System (INIS)

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

  14. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2012-04-01

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

  15. Hypercoagulability in response to elevated body temperature and central hypovolemia

    DEFF Research Database (Denmark)

    Meyer, Martin; Ostrowski, Sisse R; Overgaard, Flemming Anders;

    2013-01-01

    Coagulation abnormalities contribute to poor outcomes in critically ill patients. In trauma patients exposed to a hot environment, a systemic inflammatory response syndrome, elevated body temperature, and reduced central blood volume occur in parallel with changes in hemostasis and endothelial...... damage. The objective of this study was to evaluate whether experimentally elevated body temperature and reduced central blood volume (CBV) per se affects hemostasis and endothelial activation....

  16. Fibromyalgia and Chronic Pain Syndromes

    Science.gov (United States)

    Choy, Ernest; Clauw, Daniel J.; Goldenberg, Don L.; Harris, Richard E.; Helfenstein, Milton; Jensen, Troels Staehelin; Noguchi, Koichi; Silverman, Stuart L.; Ushida, Takahiro; Wang, Guochun

    2016-01-01

    This manuscript, developed by a group of chronic pain researchers and clinicians from around the world, aims to address the state of knowledge about fibromyalgia (FM) and identify ongoing challenges in the field of FM and other chronic pain syndromes that may be characterized by pain centralization/amplification/hypersensitivity. There have been many exciting developments in research studies of the pathophysiology and treatment of FM and related syndromes that have the potential to improve the recognition and management of patients with FM and other conditions with FM-like pain. However, much of the new information has not reached all clinicians, especially primary care clinicians, who have the greatest potential to use this new knowledge to positively impact their patients’ lives. Furthermore, there are persistent misconceptions about FM and a lack of consensus regarding the diagnosis and treatment of FM. This paper presents a framework for future global efforts to improve the understanding and treatment of FM and other associated chronic pain syndromes, disseminate research findings, identify ways to enhance advocacy for these patients, and improve global efforts to collaborate and reach consensus about key issues related to FM and chronic pain in general. PMID:27022674

  17. Milk-alkali syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000332.htm Milk-alkali syndrome To use the sharing features on this page, please enable JavaScript. Milk-alkali syndrome is a condition in which there ...

  18. What Causes Rett Syndrome?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes Rett syndrome? Skip sharing on social media links Share this: ... as bad for development as too little. Is Rett syndrome passed from one generation to the next? In ...

  19. Diabetic hyperglycemic hyperosmolar syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000304.htm Diabetic hyperglycemic hyperosmolar syndrome To use the sharing features on this page, please enable JavaScript. Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of ...

  20. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Reality Donate to Research Reality Fund October is Rett Syndrome Awareness Month Rettsyndrome.org is excited to provide ... Website What’s in Your State? For Families: Find Rett syndrome related resources in your state! State Resources Rettsyndrome. ...

  1. Androgen insensitivity syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001180.htm Androgen insensitivity syndrome To use the sharing features on this page, please enable JavaScript. Androgen insensitivity syndrome (AIS) is when a person who ...

  2. Restless Legs Syndrome Foundation

    Science.gov (United States)

    ... Into Relieved Are you experiencing symptoms linked to restless legs syndrome (RLS)? Find tools and support to help get ... I couldn’t sleep. Fortunately, I found the Restless Legs Syndrome Foundation and learned what type of doctor to ...

  3. Learning about Klinefelter Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Klinefelter Syndrome What is Klinefelter syndrome? What ... they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in ...

  4. Munchausen syndrome by proxy

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001555.htm Munchausen syndrome by proxy To use the sharing features on this page, please enable JavaScript. Munchausen syndrome by proxy is a mental illness and a form of ...

  5. Down Syndrome: Education

    Science.gov (United States)

    ... Kit Financials Newsroom Shop NDSS Home » Resources » Education Education This section includes information about inclusion, elementary and ... and postsecondary options for students with Down syndrome. Education & Down Syndrome This section provides an overview and ...

  6. What Is Marfan Syndrome?

    Science.gov (United States)

    ... 11:11 Size: 10.5 MB November 2014 What Is Marfan Syndrome? Fast Facts: An Easy-to- ... Being Done on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts ...

  7. Treacher Collins syndrome

    Science.gov (United States)

    Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome ... genes, TCOF1 , POLR1C , or POLR1D , can lead to Treacher Collins syndrome. The condition can be passed down through families ( ...

  8. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Dictionary of Medical Words En Español What Other Kids Are Reading Movie: Digestive System Winter Sports: Sledding, ... people who have it. What's Life Like for Kids With Down Syndrome? Many kids with Down syndrome ...

  9. Abdominal Pain Syndrome

    Science.gov (United States)

    ... inspection of a drop of urine), and urine culture for bacterial infection. Stools can be analyzed for ... Hepatitis C Inflammatory Bowel Disease Irritable Bowel Syndrome Obesity Digestive Health Topics Abdominal Pain Syndrome Belching, Bloating, ...

  10. Chinese restaurant syndrome

    Science.gov (United States)

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

  11. Turner Syndrome (For Parents)

    Science.gov (United States)

    ... special blood test that looks at chromosomes — a karyotype — is used to diagnose Turner syndrome. Several physical ... and prompt him or her to order a karyotype. Results that indicate Turner syndrome show 45 chromosomes ...

  12. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

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

    2008-01-01

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

  13. Metabolic Syndrome and Migraine

    OpenAIRE

    Sachdev, Amit; Marmura, Michael J.

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, ...

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

    OpenAIRE

    Đerić Dragoslava; Dudvarski Zoran; Čvorović Ljiljana

    2016-01-01

    Introduction. Turner syndrome is a chromosomal abnormality where all or a part of one of the X chromosomes is absent or it has other abnormalities. Besides characteristic abnormalities of short stature and infertility, women with Turner syndrome have increased risks for tumors of the central nervous system, especially meningioma and an otologic disease. Meningioma involving the middle ear is extremely rare, and this condition has never been published in ass...

  15. The clinical and polysomnographic features in complex sleep apnea syndrome

    OpenAIRE

    İNÖNÜ, Handan; ÇİFTÇİ, Tansu Ulukavak; KÖKTÜRK, Oğuz

    2010-01-01

    Complex sleep apnea syndrome (CompSAS) is characterized by the onset of central apneas or a Cheyne-Stokes breathing pattern in some patients with obstructive sleep apnea syndrome (OSAS) who were treated with continuous positive airway pressure (CPAP). The etiology of CompSAS is unclear, but derangement of respiratory control has been proposed. We sought to compare clinical and polysomnography (PSG) features of patients with CompSAS and OSAS. Materials and methods: Records of PSG were evaluat...

  16. Polyarticular juvenile idiopathic arthritis associated with Fahr′s syndrome

    Directory of Open Access Journals (Sweden)

    U Dundar

    2007-01-01

    Full Text Available Bilateral symmetric calcification involving striatum pallidum with or without deposits in the dentate nucleus, thalamus and white matter is commonly referred to as Fahr′s syndrome. Symptoms of the disorder may include deterioration of motor function, spasticity, spastic paralysis, dysarthria, dementia, seizures, headache and athetosis. The clinical and imaging abnormalities are restricted to the central nervous system (CNS. We report an unusual association of Fahr′s syndrome with polyarticular juvenile idiopathic arthritis in a girl.

  17. PRES syndrome

    International Nuclear Information System (INIS)

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

  18. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Priori Silvia G

    2006-09-01

    Full Text Available Abstract A novel clinical entity characterized by ST segment elevation in right precordial leads (V1 to V3, incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden cardiac death has been described by Brugada et al. in 1992. This disease is now frequently called "Brugada syndrome" (BrS. The prevalence of BrS in the general population is unknown. The suggested prevalence ranges from 5/1,000 (Caucasians to 14/1,000 (Japanese. Syncope, typically occurring at rest or during sleep (in individuals in their third or fourth decades of life is a common presentation of BrS. In some cases, tachycardia does not terminate spontaneously and it may degenerate into ventricular fibrillation and lead to sudden death. Both sporadic and familial cases have been reported and pedigree analysis suggests an autosomal dominant pattern of inheritance. In approximately 20% of the cases BrS is caused by mutations in the SCN5A gene on chromosome 3p21-23, encoding the cardiac sodium channel, a protein involved in the control of myocardial excitability. Since the use of the implantable cardioverter defibrillator (ICD is the only therapeutic option of proven efficacy for primary and secondary prophylaxis of cardiac arrest, the identification of high-risk subjects is one of the major goals in the clinical decision-making process. Quinidine may be regarded as an adjunctive therapy for patients at higher risk and may reduce the number of cases of ICD shock in patients with multiple recurrences.

  19. Cannabinoid Hyperemesis Syndrome: A Paradoxical Cannabis Effect

    Directory of Open Access Journals (Sweden)

    Ivonne Marie Figueroa-Rivera

    2015-01-01

    Full Text Available Despite well-established antiemetic properties of marijuana, there has been increasing evidence of a paradoxical effect in the gastrointestinal tract and central nervous system, given rise to a new and underrecognized clinical entity called the Cannabinoid Hyperemesis Syndrome. Reported cases in the medical literature have established a series of patients exhibiting a classical triad of symptoms: cyclic vomiting, chronic marijuana use, and compulsive bathing. We present a case of a 29-year-old man whose clinical presentation strongly correlates with cannabinoid hyperemesis syndrome. Despite a diagnosis of exclusion, this syndrome should be considered plausible in the setting of a patient with recurrent intractable vomiting and a strong history of cannabis use as presented in this case.

  20. Cannabinoid Hyperemesis Syndrome: A Paradoxical Cannabis Effect.

    Science.gov (United States)

    Figueroa-Rivera, Ivonne Marie; Estremera-Marcial, Rodolfo; Sierra-Mercado, Marielly; Gutiérrez-Núñez, José; Toro, Doris H

    2015-01-01

    Despite well-established antiemetic properties of marijuana, there has been increasing evidence of a paradoxical effect in the gastrointestinal tract and central nervous system, given rise to a new and underrecognized clinical entity called the Cannabinoid Hyperemesis Syndrome. Reported cases in the medical literature have established a series of patients exhibiting a classical triad of symptoms: cyclic vomiting, chronic marijuana use, and compulsive bathing. We present a case of a 29-year-old man whose clinical presentation strongly correlates with cannabinoid hyperemesis syndrome. Despite a diagnosis of exclusion, this syndrome should be considered plausible in the setting of a patient with recurrent intractable vomiting and a strong history of cannabis use as presented in this case. PMID:26266060

  1. Familial Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Y Samatha

    2010-01-01

    Full Text Available Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  2. Familial Crouzon syndrome

    OpenAIRE

    Y Samatha; T Harsha Vardhan; A Ravi Kiran; A J Sai Sankar; B Ramakrishna

    2010-01-01

    Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  3. What Is Usher Syndrome?

    Science.gov (United States)

    ... into electrical impulses that transfer messages to the brain. How is Usher syndrome inherited? Usher syndrome is ... required for the child to be affected. A person with only one copy of the gene is a ... in deafness and deaf-blindness, but are not related to Usher syndrome. ...

  4. Stiff skin syndrome.

    Science.gov (United States)

    Geng, S; Lei, X; Toyohara, J P; Zhan, P; Wang, J; Tan, S

    2006-07-01

    Stiff skin syndrome is a rare disorder characterized by pronounced skin induration, mild hypertrichosis and limited joint mobility, predominantly on the buttocks and thighs. Many heterogeneous cases have been reported under the name of stiff skin syndrome. We present a case of stiff skin syndrome from China, the diagnosis based on the patient's typical clinical and histopathological features. PMID:16836505

  5. Fragile X Syndrome Overview

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Overview Skip sharing on social media links Share ... menu on the left. ​ Common Name Fragile X syndrome or Fragile X Medical or Scientific Names Martin-Bell syndrome Last ...

  6. 以中心性漿液性脉络膜视网膜和Cushing综合征为首发症状的肾上腺髓脂肪瘤1例报告%One case report of combined central serous chorioretinopathy and Cushing's syndrome associated with adrenal myelolipoma

    Institute of Scientific and Technical Information of China (English)

    刘玲; 杨昉; 张仁良

    2011-01-01

    @@ Introduction Although adrenal myelolipoma was considered to be a non-functioning benign tumor composed of mature adipose cells and hematopoietic elements in the past, accumulating evidence suggested that adrenal myelolipoma sometimes associated with adrenocortical dysfunction, endocrine or ocular disorders. And there have been several reports that patients with adrenal myelolipoma simultaneously sufferred from Cushing ' s syndrome, Conn ’ s syndrome,pheochromocytoma, adrenogenital syndrome or virilization[1 - 2].

  7. Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome.

    Science.gov (United States)

    Zeybek, Cengiz; Basbozkurt, Gokalp; Hamcan, Salih; Ozcan, Ayhan; Gul, Davut; Gok, Faysal

    2016-01-01

    Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement, hiatal hernia, and nephrotic syndrome. However, this syndrome is now known to have a heterogeneous clinical presentation. The nephrotic syndrome is steroid resistant and is responsible for the outcome. The combination of collapsing glomerulopathy and GMS is very rare. A 26-month-old boy presented with steroid-resistant nephrotic syndrome associated with neurologic findings, including microcephaly, psychomotor retardation, and nystagmus. Magnetic resonance imaging showed marked cerebral atrophy, optic atrophy, and hypomyelination. A renal biopsy was consistent with collapsing glomerulopathy. If collapsing glomerulopathy is associated with neurological abnormalities, especially with microcephaly, clinicians should consider GMS as a possible underlying cause. PMID:27403357

  8. Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome

    Science.gov (United States)

    Zeybek, Cengiz; Basbozkurt, Gokalp; Hamcan, Salih; Ozcan, Ayhan; Gul, Davut; Gok, Faysal

    2016-01-01

    Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement, hiatal hernia, and nephrotic syndrome. However, this syndrome is now known to have a heterogeneous clinical presentation. The nephrotic syndrome is steroid resistant and is responsible for the outcome. The combination of collapsing glomerulopathy and GMS is very rare. A 26-month-old boy presented with steroid-resistant nephrotic syndrome associated with neurologic findings, including microcephaly, psychomotor retardation, and nystagmus. Magnetic resonance imaging showed marked cerebral atrophy, optic atrophy, and hypomyelination. A renal biopsy was consistent with collapsing glomerulopathy. If collapsing glomerulopathy is associated with neurological abnormalities, especially with microcephaly, clinicians should consider GMS as a possible underlying cause. PMID:27403357

  9. CANDLE syndrome: a recently described autoinflammatory syndrome.

    Science.gov (United States)

    Tüfekçi, Özlem; Bengoa, ŞebnemYilmaz; Karapinar, Tuba Hilkay; Ataseven, Eda Büke; İrken, Gülersu; Ören, Hale

    2015-05-01

    CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations. Most of the patients have been shown to have mutation in PSMB8 gene. Herein, we report a 2-year-old patient with young onset recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepatosplenomegaly, joint contractures, hypertrglyceridemia, lipodystrophy, and autoimmune hemolytic anemia. Clinical features together with the skin biopsy findings were consistent with the CANDLE syndrome. The pathogenesis and treatment of this syndrome have not been fully understood. Increased awareness of this recently described syndrome may lead to recognition of new cases and better understanding of its pathogenesis which in turn may help for development of an effective treatment. PMID:25036278

  10. An unusual cause of intraoperative acute superior vena cava syndrome

    Directory of Open Access Journals (Sweden)

    Adam W Amundson

    2013-01-01

    Full Text Available Acute intraoperative superior vena cava (SVC syndrome is an exceedingly rare complication in the cardiac surgical population. We describe the case of a 71-year-old female undergoing multi-vessel coronary artery bypass grafting who developed acute intraoperative SVC syndrome following internal thoracic artery harvest retractor placement. Her symptoms included severe plethora, facial engorgement and scleral edema, which was associated with hypotension and severe elevation of central venous pressure. Transesophageal echocardiography was crucial in the diagnosis, management, and optimal retractor placement ensuring adequate SVC flow. Potential causes of intraoperative SVC syndrome are reviewed as well as management options.

  11. Down syndrome: An overview

    Directory of Open Access Journals (Sweden)

    Samuel Otabor Wajuihian

    2016-03-01

    Full Text Available Optometrists as primary eye care providers examine patients from diverse populations, including those with special needs such as Down syndrome. Down syndrome is a chromosomal abnormality associated with several health conditions including vision anomalies such as refractive, accommodative and vergence anomalies, as well as ocular pathology. In this article, a narrative review of Down syndrome including the background, historical perspective, aetiology and genetic mechanisms, types, epidemiology, as well as the physical and medical profile of Down syndrome is presented.Keywords: Down syndrome review; Trisomy 21; historical perspective; etiology; types and epidemiology; features; Optometrist

  12. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN

    2013-02-01

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

  13. Macrodontic maxillary incisor in alagille syndrome

    Directory of Open Access Journals (Sweden)

    Mauro Cozzani

    2012-01-01

    Full Text Available This case report describes the surgical-orthodontic guided-eruption of a deeply impacted macrodontic maxillary central incisor in a 10-year-old patient with Alagille syndrome (ALGS. In the first stage, orthodontic treatment with fixed appliance on deciduous teeth allowed to create enough space for the eruption of the maxillary right central incisor. The second stage included closed surgical exposure and vertical traction. After impacted tooth erupted in the proper position, accessory periodontal treatment and dental reshaping procedures may be indicated to camouflage macrodontic incisor with the adjacent teeth. This is the first report that presents a patient with ALGS undergoing orthodontic and surgical treatment.

  14. Poland-Möbius syndrome.

    OpenAIRE

    Parker, D. L.; Mitchell, P. R.; Holmes, G. L.

    1981-01-01

    A patient with stigmata of both the Möbius syndrome and the Poland syndrome is presented. This is now the twelfth well-documented patient with a combination of the two syndromes. The association of the Poland syndrome and the Möbius syndrome occurs with sufficient frequency that the combination probably represents a formal genesis malformation syndrome of unknown aetiology that should be designated the Poland-Möbius syndrome.

  15. Fetal hydantoin syndrome: A case report

    Directory of Open Access Journals (Sweden)

    A Singh

    2016-01-01

    Full Text Available Fetal hydantoin syndrome (FHS is a spectrum of defects caused to the developing fetus by exposure to the teratogenic effects of antiepileptic drug (AED phenytoin during pregnancy. Its clinical manifestations include limb abnormalities, ocular defects, central nervous system anomalies, intrauterine growth restriction, and hand and phalangeal anomalies. This case report presents an 8-year-old child born to an epileptic mother with a history of AED therapy, with features suggestive of FHS.

  16. Neuroleptic malignant syndrome: the diagnostic dilemma

    OpenAIRE

    Ivana Stasevic Karlicic; Jelena Djordjevic; Milena Stasevic; Slavica Djukic Dejanovic; Dragan Pavlovic; Slobodan Jankovic

    2016-01-01

    Neuroleptic malignant syndrome (NMS) is a life-threatening, often fatal idiosyncratic reaction to neuroleptic or other drug therapies that antagonise the central dopaminergic neurotransmission. The clinical presentation of NMS is very heterogeneous. The lack of specific levels of symptom severity in currently used diagnostic criteria dims the diagnosis of NMS. Therefore differential diagnosis is of priority, because NMS is a diagnosis of exclusion. The aim of this paper is to present a comple...

  17. Imaging of Horner's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    George, A.; Haydar, A.A. [Derriford Hospital Plymouth, Derriford, Plymouth (United Kingdom); Adams, W.M. [Derriford Hospital Plymouth, Derriford, Plymouth (United Kingdom)], E-mail: william.adams@phnt.swest.nhs.uk

    2008-05-15

    Horner's syndrome, or oculosympathetic paresis, results from interruption of the sympathetic trunk innervation to the eye and presents typically with meiosis, ptosis and facial anhydrosis on the affected side.{sup 1} The pathological process ranges from benign, such as cluster headache, or life threatening, such as lung malignancy. Appropriate imaging requires an anatomical appreciation of the complex and circuitous route the neuronal pathway takes as it passes from the central nervous system to the eye.

  18. Alobar holoprosencephaly and Trisomy 13 (Patau syndrome)

    OpenAIRE

    Andressa Dias Costa; Regina Schultz; Sérgio Rosemberg

    2013-01-01

    Holoprosencephaly (HPE) is a congenital defect of the brain, median structures, and face resulting from an incomplete cleavage of the primitive brain during early embryogenesis. The authors report a case of trisomy 13 syndrome diagnosed at prenatal follow up. The preterm newborn lived only 5 hours, and died because of severe respiratory failure. The autopsy findings disclosed facial, skull, limbs, cardiac, and cerebral malformations. Among the latter, the presence of alobar HPE, the central t...

  19. VIIP: Central Nervous System (CNS) Modeling

    Science.gov (United States)

    Vera, Jerry; Mulugeta, Lealem; Nelson, Emily; Raykin, Julia; Feola, Andrew; Gleason, Rudy; Samuels, Brian; Ethier, C. Ross; Myers, Jerry

    2015-01-01

    Current long-duration missions to the International Space Station and future exploration-class missions beyond low-Earth orbit expose astronauts to increased risk of Visual Impairment and Intracranial Pressure (VIIP) syndrome. It has been hypothesized that the headward shift of cerebrospinal fluid (CSF) and blood in microgravity may cause significant elevation of intracranial pressure (ICP), which in turn may then induce VIIP syndrome through interaction with various biomechanical pathways. However, there is insufficient evidence to confirm this hypothesis. In this light, we are developing lumped-parameter models of fluid transport in the central nervous system (CNS) as a means to simulate the influence of microgravity on ICP. The CNS models will also be used in concert with the lumped parameter and finite element models of the eye described in the related IWS works submitted by Nelson et al., Feola et al. and Ethier et al.

  20. NIDDK Central Repository

    Data.gov (United States)

    U.S. Department of Health & Human Services — The NIDDK Central Repository stores biosamples, genetic and other data collected in designated NIDDK-funded clinical studies. The purpose of the NIDDK Central...

  1. Complex pleiotropy characterizes the pollen hoarding syndrome in honey bees (Apis mellifera L.)

    OpenAIRE

    Page, Robert E.; Fondrk, M. Kim; Rueppell, Olav

    2012-01-01

    The pollen hoarding syndrome consists of a large suite of correlated traits in honey bees that may have played an important role in colony organization and consequently the social evolution of honey bees. The syndrome was first discovered in two strains that have been artificially selected for high and low pollen hoarding. These selected strains are used here to further investigate the phenotypic and genetic links between two central aspects of the pollen hoarding syndrome, sucrose responsive...

  2. Analysis of Cardiovascular Risk Factors and Metabolic Syndrome in Korean Patients with Psoriasis

    OpenAIRE

    Kim, Gun-Wook; Park, Hyun-Je; Kim, Hoon-Soo; Kim, Su-Han; Ko, Hyun-Chang; Kim, Byung-Soo; Kim, Moon-Bum; Sim, Eun-Kyung

    2012-01-01

    Background In previous studies, psoriasis has been reported to be associated with metabolic syndrome. Objective The purpose of this study was to evaluate risk factors for metabolic syndrome in psoriasis patients and to compare the prevalence of metabolic syndrome in psoriasis and control groups. Methods All patients (n=490) and controls (n=682) were investigated for cardiovascular risk factors, including central obesity, hypertension, fasting plasma glucose levels, and blood levels of triglyc...

  3. Meckel-Gruber syndrome: a case report with review of literature

    Directory of Open Access Journals (Sweden)

    Usha Prasad

    2015-02-01

    Full Text Available Meckel Gruber syndrome is an autosomal recessive disorder, characterized by a combination of renal cysts or cystic renal dysplasia, developmental anomalies of the central nervous system, hepatic dysgenesis and polydactyly. It is a rare syndrome with highest incidence in Gujarati Indians and Finnish population. We report a case of Meckel Gruber syndrome in non Gujarati Indian which was diagnosed on fetal autopsy. [Int J Res Med Sci 2015; 3(2.000: 484-487

  4. Central and peripheral demyelination

    OpenAIRE

    Man Mohan Mehndiratta; Natasha Singh Gulati

    2014-01-01

    Several conditions cause damage to the inherently normal myelin of central nervous system, perepheral nervous system or both central and perepheral nervous system and hence termed as central demyelinating diseases, perepheral demyelinating diseases and combined central and perepheral demyelinating diseases respectively. Here we analysed and foccused on the etiology, prevalance, incidence and age of these demyelinating disorders. Clinical attention and various diagnostic tests are needed to ad...

  5. Savant Syndrome: Clinical and Neuropsychological Features

    Directory of Open Access Journals (Sweden)

    Ibrahim Durukan

    2010-08-01

    Full Text Available Savant syndrome defines the people who have severe developmental and mental disabilities but also have extraordinary mental skills which are missing in many people. Although general mental capacity is under average mental level, savant has excessive knowledge about one or more domains. It is accepted that as many as one in 10 persons with autistic disorder have such remarkable abilities in varying degrees, although savant syndrome occurs in other developmental disabilities or in other types of central nervous system injury or disease as well. Males outnumber females by an approximate 6 : 1 ratio in savant syndrome. Savant skills are limited to five general categories. These are music, art, calender calculating, mathematics and mechanical or spatial skills. Savant skills can also be divided into three as savants who have splinter skills, talented savants and prodigious savants. A remarkable memory welds to the special abilities determined in savant syndrome. Savant syndrome can be congenital or it can be acquired. Most often savant skills emerge in childhood, superimposed on some underlying developmental disability present at birth. However, acquired savant skills can also appear, when none were previously present, in neurotypical individuals following brain injury or disease later in infancy, childhood or adult life. Savant skills don’t depend on only rote memory. It is approved that an enhanced or spared ability to represent and manipulate highly organised domain-specific information. Various theoretic models were defined to explain the neuropsychological profile in savant syndrome. Interest in savants has a long history, stretching back to the early 18th century; nevertheless, the savant syndrome remains as much a mystery now as it did when it was first described. Given that many questions about the existence and nature of savant talent remain unanswered, it seems likely that research efforts will continue unabated.

  6. Activated protein C in the treatment of acute lung injury and acute respiratory distress syndrome

    NARCIS (Netherlands)

    A.D. Cornet; G.P. van Nieuw Amerongen; A. Beishuizen; M.J. Schultz; A.R.J. Girbes; A.B.J. Groeneveld

    2009-01-01

    Background: Acute lung injury (ALI) and acute respiratory distress syndrome (ARDS) frequently necessitate mechanical ventilation in the intensive care unit. The syndromes have a high mortality rate and there is at present no treatment specifically directed at the underlying pathogenesis. Central in

  7. Perturbed autonomic nervous system function in metabolic syndrome.

    Science.gov (United States)

    Tentolouris, Nicholas; Argyrakopoulou, Georgia; Katsilambros, Nicholas

    2008-01-01

    The metabolic syndrome is characterized by the clustering of various common metabolic abnormalities in an individual and it is associated with increased risk for the development of type 2 diabetes and cardiovascular diseases. Its prevalence in the general population is approximately 25%. Central fat accumulation and insulin resistance are considered as the common denominators of the abnormalities of the metabolic syndrome. Subjects with metabolic syndrome have autonomic nervous system dysfunction characterized by predominance of the sympathetic nervous system in many organs, i.e. heart, kidneys, vasculature, adipose tissue, and muscles. Sympathetic nervous system activation in metabolic syndrome is detected as increased heart rate and blood pressure, diminished heart rate variability, baroreceptor dysfunction, enhanced lipolysis in visceral fat, increased muscle sympathetic nerve activity, and high urine or plasma catecholamine concentrations as well as turnover rates. The augmented sympathetic activity in individuals with metabolic syndrome worsens prognosis of this high-risk population. The mechanisms linking metabolic syndrome with sympathetic activation are complex and not clearly understood. Whether sympathetic overactivity is involved in the development of the metabolic syndrome or is a consequence of it remains to be elucidated since data from prospective studies are missing. Intervention studies have demonstrated that the autonomic disturbances of the metabolic syndrome may be reversible.

  8. Pathological Changes and Etiological Study of the Swine High Fever Syndrome (SHFS) in Central Region of Shandong Province%鲁中地区猪高热性疾病的病理变化及病原学调查研究

    Institute of Scientific and Technical Information of China (English)

    刘月月; 杜以军; 王金宝; 刘思当; 吴家强; 任庆海; 张绍武; 吴好庭; 张玉玉; 赵鹏伟; 彭军; 李俊

    2012-01-01

    In order to study the pathological changes and the etiological agent of the Swine High Fever Syndrome (SHFS) in central region of Shandong province, we diagnosed the clinical symptoms and the pathological changes of 109 cases in 56 pig farms and collected 363 serum samples from Jan. 2011 to Mar. 2012. Three viruses were detected on tissue samples by histopathologi-cal, immunohistochemical examination and RT-PCR or PCR, including classical swine fever virus (CSFV) ,porcine reproductive and respiratory syndrome virus (PRRSV) , porcine circovirus type 2 (PCV-2). Serological tests were used for detecting prevalence of CSFV,PRRS, and PCV- 2 antibody by ELISA. The results showed that all pigs suffering from high fever had been vaccinated by Classical Swine Fever vaccines, part by Porcine Reproductive and Respiratory Syndrome attenuated live vaccines, but none by Circovirus vaccines. However, they had high positive rates of antibody against CSFV,PRRSV, and PCV-2. The pathological changes mainly included acute inflammation in lymphoid tissues, interstitial pneumonia and viral encephalitis, and the occurrences were respectively 92. 3%, 76. 1% and 66. 1%. The pathogenetic rates of CSFV, PRRSV and PCV2 were respectively 30. 27% , 66. 97% and 41. 28%. Co-infection rates of CSFV and PRRSV, CSFV and PCV2, PRRSV and PCV2 were respectively 16. 51%, 6. 42% and 28. 44%. And the triple infection rate was 4. 59%. In addition, other pathogenic infections were 8. 26%. Sequence analysis showed that the epidemic strains of CSFV were developing towards being far away from the HCLV, PRRSV strains were highly pathogenic ones, and PCV2 strains were mainly the virulent Type-PCV2b. In conclusion, CSFV, PRRSV and PCV2 were the main pathogens which caused the Swine High Fever in central region of Shandong province, and the severe cases were mainly caused by co-infection. What's more, mixed infection of Mycoplasma and Haemophilus parasuis used to occur in clinical cases. Therefore, the Swine High

  9. Metabolic syndrome and migraine

    Directory of Open Access Journals (Sweden)

    Amit eSachdev

    2012-11-01

    Full Text Available Migraine and metabolic syndrome are highly prevaleirnt and costly conditions.The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogensis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise.

  10. Peroxisome proliferator-activated receptors, metabolic syndrome and cardiovascular disease

    OpenAIRE

    Azhar, Salman

    2010-01-01

    Metabolic syndrome (MetS) is a constellation of risk factors including insulin resistance, central obesity, dyslipidemia and hypertension that markedly increase the risk of Type 2 diabetes (T2DM) and cardiovascular disease (CVD). The peroxisome proliferators-activated receptor (PPAR) isotypes, PPARα, PPARδ/β and PPARγ are ligand-activated nuclear transcription factors, which modulate the expression of an array of genes that play a central role in regulating glucose, lipid and cholesterol meta...

  11. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Waardenburg syndrome Waardenburg syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Waardenburg syndrome is a group of genetic conditions that can ...

  12. Hemolytic Uremic Syndrome in Children

    Science.gov (United States)

    ... KB)​​​​​ Alternate Language URL Hemolytic Uremic Syndrome in Children Page Content On this page: What is hemolytic ... spine. [ Top ] What causes hemolytic uremic syndrome in children? The most common cause of hemolytic uremic syndrome ...

  13. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Turner syndrome Turner syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Turner syndrome is a chromosomal condition that affects development in ...

  14. Genetics Home Reference: Rotor syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Rotor syndrome Rotor syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Rotor syndrome is a relatively mild condition characterized by ...

  15. Features of Fragile X Syndrome

    Science.gov (United States)

    ... Figuring Out CGG Repeats! Donate | Print Fragile X Syndrome Fragile X syndrome (FXS) is a genetic condition that causes ... health concerns associated with the condition. Features of Fragile X Syndrome in Males Read our Story The majority of ...

  16. Genetics Home Reference: Arts syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Arts syndrome Arts syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Arts syndrome is a disorder that causes serious neurological ...

  17. Fat embolism syndrome

    OpenAIRE

    Jacob George; Reeba George; Dixit, R; Gupta, R C; Gupta, N.

    1997-01-01

    Fat embolism syndrome, an important contributor to the development of acute respiratory distress syndrome, has been associated with both traumatic and nontraumatic disorders. Fat embolization after long bone trauma is probably common as a subclinical event. Fat emboli can deform and pass through the lungs, resulting in systemic embolization, most commonly to the brain and kidneys. The diagnosis of fat embolism syndrome is based on the patient’s history, supported by clinical signs of pulmonar...

  18. Cannabinoid Hyperemesis Syndrome

    OpenAIRE

    Galli, Jonathan A.; Sawaya, Ronald Andari; Friedenberg, Frank K.

    2011-01-01

    Coinciding with the increasing rates of cannabis abuse has been the recognition of a new clinical condition known as Cannabinoid Hyperemesis Syndrome. Cannabinoid Hyperemesis Syndrome is characterized by chronic cannabis use, cyclic episodes of nausea and vomiting, and frequent hot bathing. Cannabinoid Hyperemesis Syndrome occurs by an unknown mechanism. Despite the well-established anti-emetic properties of marijuana, there is increasing evidence of its paradoxical effects on the gastrointes...

  19. Understanding Brugada syndrome.

    Science.gov (United States)

    Gehshan, Janine Mary; Rizzolo, Denise

    2015-06-01

    Brugada syndrome is an established cause of sudden cardiac arrest in patients without structural cardiac abnormalities. Recognition and diagnosis of this syndrome has been slowly increasing. Syncope, ventricular dysrhythmia, or sudden cardiac arrest may be the presenting symptom, although detection of the characteristic right precordial ST-segment elevation on ECG can be a potentially lifesaving intervention. This article reviews the clinical presentation, pathophysiology, genetics, and current management of Brugada syndrome. PMID:25932713

  20. Central Hyperexcitability in Chronic Musculoskeletal Pain: A Conceptual Breakthrough with Multiple Clinical Implications

    Directory of Open Access Journals (Sweden)

    Jan Lidbeck

    2002-01-01

    Full Text Available Recent investigations of dysfunctional pain processing in the central nervous system have contributed much knowledge about the development of chronic musculoskeletal pain. Many common chronic musculoskeletal pain syndromes - including regional myofascial pain syndromes, whiplash pain syndromes, refractory work-related neck-shoulder pain, certain types of chronic low back pain, fibromyalgia and others - may essentially be explained by abnormalities in central pain modulation. The growing awareness of dysfunctional central pain modulation may be a conceptual breakthrough leading to a better understanding of common chronic pain disorders. A new paradigm will have multiple clinical implications, including re-evaluation of clinical practice routines and rehabilitation methods, and will focus on controversial issues of medicolegal concern. The concept of dysfunctional central pain processing will also necessitate a mechanism-based classification of pain for the selection of individual treatment and rehabilitation programs for subgroups of patients with chronic musculoskeletal pain due to different pathophysiological mechanisms.

  1. Cerebral salt wasting syndrome following atlantoaxial fracture dislocation in Down syndrome.

    Science.gov (United States)

    Abdel-Latif, Mohamed El-Amin; Chan, Patrick W-K; Goh, Adrian Yu-Teik; Lum, Lucy Chai-See

    2009-01-01

    We describe cerebral salt wasting syndrome (CSWS) in a 5-year-old female child with Down syndrome who had acute myelopathy secondary to chronic atlantoaxial subluxation and fracture dislocation of the odontoid process. The patient developed hyponatraemia associated with excessive urine output and elevated urine sodium concentration following her injury. An administered volume-for-volume replacement of urine loss with 0.9% sodium chloride resulted in an excellent outcome. This patient illustrates the importance of ascertaining CSWS in children with spinal cord disorders, in addition to the syndrome of inappropriate antidiuretic hormone (SIADH) secretion and diabetes insipidus (DI) commonly encountered following a central nervous system (CNS) injury, as the specific treatment approaches is clearly associated with an excellent outcome.

  2. Posterior Reversible Encephalopathy Syndrome

    OpenAIRE

    J Gordon Millichap

    2013-01-01

    Investigators at Children's Hospital of Montefiore, Albert Einstein College of Medicine, NY, determined the incidence of posterior reversible encephalopathy syndrome (PRES) in a pediatric critical care unit.

  3. Short Bowel Syndrome

    Science.gov (United States)

    ... may include nutritional support medications surgery intestinal transplant Nutritional Support The main treatment for short bowel syndrome is nutritional support, which may include the following: Oral rehydration. Adults ...

  4. Cushing's syndrome in pregnancy.

    Science.gov (United States)

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

    2015-02-01

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

  5. Neonatal abstinence syndrome

    Science.gov (United States)

    ... JR, Isemann B, Ward LP, et al. Current management of neonatal abstinence syndrome secondary to ... MD, MSc, IBCLC, Associate Professor of Pediatrics, Division of Neonatology, Medical University of ...

  6. Laugier-Hunziker syndrome.

    Science.gov (United States)

    Nayak, Ramakant S; Kotrashetti, Vijayalakshmi S; Hosmani, Jagadish V

    2012-05-01

    Laugier-Hunziker syndrome is a rare acquired disorder characterized by diffuse hyperpigmentation of the oral mucosa and longitudinal melanonychia in adults. They appear as macular lesions less than 5 mm in diameter. Laugier-Hunziker syndrome is considered to be a benign disease with no systemic manifestation or malignant potential. Therefore, it is important to rule out other mucocutaneous pigmentary disorders that do require medical management. Prompt clinical recognition also averts the need for excessive and invasive procedures and treatments. In India, the reported cases of this syndrome are very few. We provide a review of literature on Laugier-Hunziker syndrome with its differential diagnosis.

  7. Diagnosis and treatment of central diabetes insipidus

    Directory of Open Access Journals (Sweden)

    Ekaterina Aleksandrovna Pigarova

    2014-11-01

    Full Text Available Diabetes insipidus represents a serious disease that dramatically interferes with the everyday life of patients due to the need to constantly replenish of fluid lost in the urine, which comes amid shortage of synthesis, secretion or action of pituitary hormone vasopressin. The main difficulty is the differential diagnosis of types of diabetes insipidus in patients with the syndrome of polydipsia-polyuria as the correct differential diagnosis of these forms predetermine the safety and efficacy of further treatment. This lecture presents the current concepts of etiology, diagnosis and treatment of central diabetes insipidus (CDI. We give the comparative characteristics of various preparations of desmopressin for the treatment of the central form of the disease. We also consider the features of the management of selected patient populations with CDI: during pregnancy and lactation, pathology of the thirst sensation, after traumatic brain injury and neurosurgery.

  8. Do you know this syndrome? *

    OpenAIRE

    Rosmaninho, A.; Pinto-Almeida, T.; Fernandes, I; Machado, S; Selores, M.

    2013-01-01

    Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), d...

  9. Restless legs syndrome.

    Science.gov (United States)

    Miletić, Vladimir; Relja, Maja

    2011-12-01

    Being of the most frequent causes of insomnia, which in the end leads to chronic fatigue, inadequate performance of daily activities, and serious disruption of quality of living, restless legs syndrome (RLS) is nowadays not only a serious medical problem but a socio-economical one as well. Prevalence of the disorder in general population is estimated at 5 to 15%. Family history is positive in over 50% of idiopathic RLS patients which points to genetic basis of the disorder. The characteristics of the secondary or acquired form of RLS are symptoms that start later in life as well as a rapid progression of the disease. On the other hand, idiopathic RLS more often starts at a younger age and the prognoses are better. Over twenty disorders and conditions are brought in connection with secondary RLS. Although the cause of primary RLS is still unknown, there is a strong connection between central metabolism of iron as well as dopamine levels and RLS manifestation. A differential diagnosis of RLS includes a wide specter of motor and sensory disorders. Diagnosis is based on clinical features and the history of disease. To correctly diagnose idiopathic RLS one must first eliminate secondary causes of RLS and then also exclude any disorders with clinical features that mimic those of RLS. It has been estimated that some 20 to 25% of patients need pharmacological therapy. Best initial therapy is the application of nonergot dopamine agonists. Anticonvulsants, benzodiazepines and opioides can be given to patients who are refractory to dopaminergic therapy, those suffering from RLS with emphasized painful sensory component and those with RLS connected with insomnia.

  10. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

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

  11. Multifocal spinal hemangioblastoma in von Hippel-Lindau syndrome: A case report and literature review

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ok Hwa [Dept. of Radiology, Inje University College of Medicine, Haeundae Paik Hospital, Busan (Korea, Republic of)

    2015-03-15

    Hemangioblastoma is a benign vascular neoplasm of the central nervous system that occurs frequently in the cerebellum and other areas of the central nervous system including spinal cord and brainstem. Spinal hemangioblastoma can present as a sporadic isolated lesion or as a component of von Hippel-Lindau syndrome. The author presents a case of 32-year-old man with von Hippel-Lindau syndrome and spinal hemangioblastomas represented by multiple small spinal lesions, with an emphasis on the magnetic resonance imaging findings and clinical characteristics of von Hippel-Lindau syndrome-associated spinal hemangioblastomas.

  12. Cerebral salt wasting syndrome in brain injury patients: a potential cause of hyponatremia.

    Science.gov (United States)

    Zafonte, R D; Mann, N R

    1997-05-01

    Hyponatremia is a common neuromedical problem seen in survivors of central nervous system injury. The etiology of this hyponatremia is often diagnosed as syndrome of inappropriate diuretic hormone (SIADH). Fluid restriction is usually the first line of treatment. However, this can exacerbate vasospasm and produce resultant ischemia. Cerebral salt wasting is a syndrome of renal sodium loss that may occur commonly after central nervous system injury, yet remains unrecognized. Treatment of cerebral salt wasting consists of hydration and salt replacement. This article uses a case report to discuss the importance of recognition of this syndrome, and treatment concerns are reviewed.

  13. Solitary median maxillary central incisor: A case report of a rare dental anomaly

    OpenAIRE

    Deepak Chandrasekaran; Arif Yezdani; Faizal Tajir; B. Saravanan; Rajasekar, L.

    2015-01-01

    The solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly and has an incidence of 1:50,000 live births. In SMMCI, there is only one central incisor present, and it develops exactly at the midline. SMMCI occurrence has been described with growth hormone deficiency or other structural anomalies in the midline of the body. In this case, the 8-year-old female patient reported a single median maxillary central incisor with missing maxillary and mandibular frena, with ...

  14. MRI of Wolfram syndrome (DIDMOAD)

    Energy Technology Data Exchange (ETDEWEB)

    Galluzzi, P.; Filosomi, G.; Vallone, I.M.; Venturi, C. [Dept. of Neuroradiology, Policlinico ' ' Le Scotte' ' , Siena (Italy); Bardelli, A.M. [Dept. of Ophthalmological Sciences, Unit of Paediatric Ophthalmology, University of Siena (Italy)

    1999-10-01

    Wolfram syndrome (DIDMOAD) is a rare diffuse neurodegenerative disorder characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and a wide variety of abnormalities of the central nervous system, urinary tract and endocrine glands. It may be familial or sporadic. Reported features on MRI of the brain are absence of the physiological high signal of the posterior lobe of the pituitary, shrinkage of optic nerves, chiasm and tracts, atrophy of the hypothalamic region, brain stem, cerebellum, and cerebral cortex. We report a 12-year-old girl with a 5-year history without brain stem, cerebellar or cerebral atrophy. MRI showed an unusual feature: a focus of high signal on PD- and T2-weighted images in the right substantia nigra. This is consistent with previously reported neuropathological post-mortem studies, but has never been reported in vivo. (orig.)

  15. MRI of Wolfram syndrome (DIDMOAD)

    International Nuclear Information System (INIS)

    Wolfram syndrome (DIDMOAD) is a rare diffuse neurodegenerative disorder characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and a wide variety of abnormalities of the central nervous system, urinary tract and endocrine glands. It may be familial or sporadic. Reported features on MRI of the brain are absence of the physiological high signal of the posterior lobe of the pituitary, shrinkage of optic nerves, chiasm and tracts, atrophy of the hypothalamic region, brain stem, cerebellum, and cerebral cortex. We report a 12-year-old girl with a 5-year history without brain stem, cerebellar or cerebral atrophy. MRI showed an unusual feature: a focus of high signal on PD- and T2-weighted images in the right substantia nigra. This is consistent with previously reported neuropathological post-mortem studies, but has never been reported in vivo. (orig.)

  16. PROTEUS SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Farhad HEYDARIAN

    2010-06-01

    Full Text Available ObjectiveProteus Syndrome is an extremely rare, sporadic and progressive disorder. We describe a four-month-old male baby with central nervous system manifestations in this article.Clinical presentationA four-month-old boy was admitted into our hospital with three tonic - clonic generalized seizure attacks which started from the day before admission. Each seizure attack lasted less than 10 minutes and the baby was well between attacks. No fever was detected. On physical examination, abnormal facial features, macrocrania, a wide nasal bridge, overgrowth of the right lower limb, macrodactyly in the third left toe, epidermal nevus on the left side of the abdomen and skin vascular abnormalities were detected. His developmental status was normal. Brain Magnetic Resonance Imaging (MRI revealed left sided hemihypertrophy, ventricle enlargement and macrocrania on the same side.

  17. PROTEUS SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Farhad HEYDARIAN

    2010-07-01

    Full Text Available ObjectiveProteus Syndrome is an extremely rare, sporadic and progressive disorder. We describe a four-month-old male baby with central nervous system manifestations in this article.Clinical presentationA four-month-old boy was admitted into our hospital with three tonic - clonic generalized seizure attacks which started from the day before admission. Each seizure attack lasted less than 10 minutes and the baby was well between attacks. No fever was detected. On physical examination, abnormal facial features, macrocrania, a wide nasal bridge, overgrowth of the right lower limb, macrodactyly in the third left toe, epidermal nevus on the left side of the abdomen and skin vascular abnormalities were detected. His developmental status was normal. Brain Magnetic Resonance Imaging (MRI revealed left sided hemihypertrophy, ventricle enlargement and macrocrania on the same side.Keywords:hemihypertrophy, macrocrania, vascular abnormalities, seizure,hemimegalencephaly

  18. Central Laboratories Services

    Data.gov (United States)

    Federal Laboratory Consortium — The TVA Central Laboratories Services is a comprehensive technical support center, offering you a complete range of scientific, engineering, and technical services....

  19. Prostaglandin E2 causes hypoventilation and apnea in newborn lambs.

    Science.gov (United States)

    Guerra, F A; Savich, R D; Wallen, L D; Lee, C H; Clyman, R I; Mauray, F E; Kitterman, J A

    1988-05-01

    To test the hypothesis that prostaglandin (PG) E2 is a respiratory depressant in the newborn lamb, 12 chronically catheterized, unanesthetized lambs (age 2-6 days) were infused with progressively increasing doses of PGE2 (0.1, 0.5, 1.0, and 5.0 micrograms.kg-1.min-1; 30 min for each dose) into the ascending aorta. PGE2 caused significant progressive decreases in ventilation (due to decreased tidal volume and breathing rate), heart rate, blood pressure, and percent of the time spent in low-voltage electrocortical activity (LVA). PGE2 also caused respiratory acidosis, hypoxemia, and increased frequency and duration of apneic events (greater than 3 s). During the infusion there was a dose-related increase in plasma concentration of PGE2. At 30 min postinfusion, all measured variables showed recovery, although arterial pH, CO2 tension, and plasma PGE2 remained significantly different from control values, and the percent time in LVA was even higher than during control. Infusion of the vehicle alone (n = 5) caused no significant changes in any of the measured variables. The results, taken in combination with previous fetal studies, indicate that PGE2 has marked inhibitory effects on breathing movements both before and after birth. PMID:3164715

  20. Genetics Home Reference: cri-du-chat syndrome

    Science.gov (United States)

    ... 1:33. Review. Citation on PubMed or Free article on PubMed Central Hills C, Moller JH, Finkelstein M, Lohr J, Schimmenti L. Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation ...

  1. How Relevant Are GFAP Autoantibodies in Autism and Tourette Syndrome?

    Science.gov (United States)

    Kirkman, Nikki J.; Libbey, Jane E.; Sweeten, Thayne L.; Coon, Hilary H.; Miller, Judith N.; Stevenson, Edward K.; Lainhart, Janet E.; McMahon, William M.; Fujinami, Robert S.

    2008-01-01

    Controversy exists over the role of autoantibodies to central nervous system antigens in autism and Tourette Syndrome. We investigated plasma autoantibody titers to glial fibrillary acidic protein (GFAP) in children with classic onset (33) and regressive onset (26) autism, controls (25, healthy age- and gender-matched) and individuals with…

  2. Prenatal diagnosis and postmortem findings of Neu-laxova syndrome

    OpenAIRE

    Tarim, Ebru; Filiz BOLAT

    2010-01-01

    Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, central nervous system malformations and abnormal facial features, consisting of severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, malformed ears, and gaping mouth. Here we present a fetus having a dysmorphic face with proptotic eyes, retracted eye...

  3. Shy-Drager syndrome a case report with polysomnography

    Directory of Open Access Journals (Sweden)

    F. S. Aloe

    1990-06-01

    Full Text Available The authors report a case of Shy-Drager syndrome in a 53 year-old male patient. Autonomic failure was made evident by physical examiration as well as laboratory tests. A sleep recording showed decreased percentage of REM sleep and apneas of the central type. The possible mechanisms for this sleep disorder are discussed.

  4. Continuous positive airway pressure in the treatment of patients with acromegaly and obstructive sleep apnea hypo-ventilation syndrome%持续气道正压通气治疗老年肢端肥大症合并阻塞性睡眠呼吸暂停低通气综合征病例报道及文献复习

    Institute of Scientific and Technical Information of China (English)

    刘歆; 陆志强; 符翠萍; 吴旭; 张舒淇; 李善群

    2014-01-01

    目的 分析老年肢端肥大症合并阻塞性睡眠呼吸暂停低通气综合征(OSAHS)患者的临床特点、可能的发生机制,以及治疗方法,为临床提供理论依据和指导.方法 总结近期收治的4例老年性肢端肥大症合并OSAHS患者的临床资料,分析患者接受持续气道正压通气(CPAP)呼吸机治疗的临床特征. 结果 患者存在重度OSAHS合并夜间重度低氧血症,并患有高血压和糖尿病存在垂体内分泌变化.CPAP呼吸机对患者OSAHS治疗有益.结论 临床肢端肥大症并发OSAHS较常见,老年人更易合并严重的睡眠呼吸暂停,患者有必要行多导睡眠图监测.CPAP可使OSAHS患者的临床症状得到缓解和改善.

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

    Directory of Open Access Journals (Sweden)

    Đerić Dragoslava

    2016-01-01

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

  6. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha

    2007-01-01

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

  7. Bronchiectasis and Marfan's syndrome.

    OpenAIRE

    Foster, M E; Foster, D R

    1980-01-01

    Marfan's syndrome is a rare hereditary disorder characterized by skeletal, cardiovascular and ocular abnormalities. Pulmonary abnormalities occur in approximately 10% of patients the commonest being spontaneous pneumothorax and emphysema. A patient is described who had Marfan's syndrome and bronchiectasis, an association only described on 2 previous occasions in the literature.

  8. Yellow nail syndrome

    Directory of Open Access Journals (Sweden)

    Dixit Ramakant

    2007-01-01

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

  9. Syndrome in question*

    Science.gov (United States)

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  10. Syndrome in Question.

    Science.gov (United States)

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  11. Syndrome in question*

    OpenAIRE

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.

  12. MECP2 Duplication Syndrome

    DEFF Research Database (Denmark)

    Signorini, Cinzia; De Felice, Claudio; Leoncini, Silvia;

    2016-01-01

    Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) are neurodevelopmental disorders caused by alterations in the methyl-CpG binding protein 2 (MECP2) gene expression. A relationship between MECP2 loss-of-function mutations and oxidative stress has been previously documented in RTT patients...

  13. Klippel-Feil Syndrome

    Science.gov (United States)

    ... such as Klippel-Feil Syndrome and open promising new avenues for treatment. NIH Patient Recruitment for Klippel-Feil Syndrome Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 March of Dimes 1275 Mamaroneck Avenue ...

  14. Korsakoff's syndrome is preventable

    NARCIS (Netherlands)

    Oudman, Erik; Wijnia, Jan W.

    2014-01-01

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

  15. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts

    2014-07-07

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

  16. Rothmund - Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma N. L

    2003-01-01

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

  17. Epidemiology of Down Syndrome

    Science.gov (United States)

    Sherman, Stephanie L.; Allen, Emily G.; Bean, Lora H.; Freeman, Sallie B.

    2007-01-01

    Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…

  18. Restless Legs Syndrome

    Science.gov (United States)

    ... Us FAQs Home » Health Information for the Public » Health Topics » Restless Legs Syndrome Explore Restless Legs Syndrome What Is... Causes Who Is at Risk Signs & Symptoms Diagnosis Treatments Living With Clinical Trials Links Related Topics Insomnia Sleep Deprivation and Deficiency Sleep Studies Send a ...

  19. Juvenile polyposis syndrome

    NARCIS (Netherlands)

    L.A.A. Brosens; D. Langeveld; W.A. van Hattem; F.M. Giardiello; G.J.A. Offerhaus

    2011-01-01

    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a

  20. Polycystic ovarian syndrome

    OpenAIRE

    Nina Madnani; Kaleem Khan; Phulrenu Chauhan; Girish Parmar

    2013-01-01

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