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Sample records for levator ani syndrome

  1. Levator Syndrome

    Science.gov (United States)

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

  2. Anorectal pain and irritation: anal fissure, levator syndrome, proctalgia fugax, and pruritus ani.

    Science.gov (United States)

    Vincent, C

    1999-03-01

    Anal fissures, proctalgia fugax, levator ani syndrome, and pruritus ani are common causes of anorectal pain and irritation. The clinician who obtains a thorough history and performs a complete examination can accurately diagnose these disorders. Ancillary tests seldom are helpful and rarely are necessary. Most patients suffering from these conditions readily respond to conservative therapy provided in the primary care practitioner's office.

  3. [Irritable bowel syndrome, levator ani syndrome, proctalgia fugax and chronic pelvic and perineal pain].

    Science.gov (United States)

    Watier, Alain; Rigaud, Jérôme; Labat, Jean-Jacques

    2010-11-01

    To define functional gastrointestinal pain, irritable bowel syndrome (IBS), levator ani syndrome, proctalgia fugax, the pathophysiology of these syndromes and the treatments that can be proposed. Review of articles published on the theme based on a Medline (PubMed) search and consensus conferences selected according to their scientific relevance. IBS is very common. Patients report abdominal pain and/or discomfort, bloating, and abnormal bowel habit (diarrhoea, constipation or both), in the absence of any structural or biochemical abnormalities. IBS has a complex, multifactorial pathophysiology, involving biological and psychosocial interactions resulting in dysregulation of the brain-gut axis associated with disorders of intestinal motility, hyperalgesia, immune disorders and disorders of the intestinal bacterial microflora and autonomic and hormonal dysfunction. Many treatments have been proposed, ranging from diet to pharmacology and psychotherapy. Patients with various types of chronic pelvic and perineal pain, especially those seen in urology departments, very often report associated IBS. This syndrome is also part of a global and integrated concept of pelviperineal dysfunction, avoiding a rigorous distinction between the posterior segment and the midline and anterior segments of the perineum. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

  4. Evaluation on levator ani muscle injuries after vaginal delivery with MRI

    International Nuclear Information System (INIS)

    Wang Yi; Gong Shuigen; Zhang Weiguo; Chen Jinhua; Tan Yong

    2006-01-01

    Objective: To explore the MRI finding of female normal levator ani muscle and the levator ani muscle injuries and to evaluate the correlation between childbirth and levator ani muscle injuries. Methods: One hundred asymptomatic nulliparous women (control group) and 200 vaginally primiparous women (study group) were selected as the object of this study. Moreover, the study group was divided into two subgroups: group A (100 cases) with stress incontinence, group B (100 cases) without clinical symptoms. Multiplanar proton density magnetic resonance images were obtained at 0.5 cm intervals from these study individuals. All images were used to analyze the differentiation of MRI features between normal levator ani muscle and levator ani muscle injuries. Results: No levator ani injuries were identified in the control group. Fifty-four primiparous women (27%) had visible injuries in their levator ani muscles, 42 in group A and 12 in group B. Injuries were identified in the puborectalis muscle in 49 cases and in the iliococcygeus muscle in 5 cases(χ 2 =41.447, P<0.01). Within the puborectalis muscle, both unilateral and bilateral partial defects were usually found. Iliococcygeus injuries showed that the iliococcygeus muscle was atrophied in MR images. Conclusion: Vaginal delivery was an important cause of the levator ani muscle injuries which could result in pelvic floor dysfunction and pelvic organs prolapsed. MRI was an effective examination method of the levator ani muscle injuries. (authors)

  5. [Dynamic study of the female levator ani muscle using MRI 3D vectorial modeling].

    Science.gov (United States)

    Delmas, Vincent; Ami, Olivier; Iba-Zizen, Marie-Thérèse

    2010-06-01

    The levator ani muscle has a major role in the female pelvic floor, and is involved in the pathophysiology of pelvic prolapse and stress urinary incontinence. We conducted an anatomical and morphological study of this muscle using dynamic 3D vectorial reconstruction MRI, in order to analyze the contraction of two major components of the levator ani: the iliococcygeus and pubococcygeus. Three volunteer healthy continent nulliparous women aged from 19 to 22 underwent dynamic pelvic MRI. Coronal T2-weighted pelvic images were obtained in the supine position, at rest, holding back, and during Valsalva stress effort. 3D vectorial models were reconstructed by manual segmentation of the source images, and were set up on bony anatomic marks. Iliococcygeus and pubococcygeus volumes were measured in the three positions. Volumetrics, displacement and dynamic morphing changes were analyzed with 3D vectorial animation software. The urogenital hiatus extended more holding back (mean +4.31 mm) than on effort (mean +2.78 mm). The iliococcygeus lowered (mean -3.95 mm) and deviated outward (mean +3.01 mm). The basic tone of the iliococcygeus muscle gives it a dome shape, and its reflex contraction against abdominal strain ensures anal and urinary continence The levator ani is more than a pelvic diaphragm: it is a truly dynamic pelvic floor. Its points of support on the stiff osseous frame allow it to retain the pelvic organs. The levator ani muscle seems to prevent anal prolapse during stress strain.

  6. Epidermal growth factor and active caspase-3 expression in the levator ani muscle of dogs with and without perineal hernia.

    Science.gov (United States)

    Pérez-Gutiérrez, J F; Argüelles, J C; Iglesias-Núñez, M; Oliveira, K S; De La Muela, M Sánchez

    2011-07-01

    To perform a histological and immunohistochemical study of epidermal growth factor, transforming growth factor-alpha and their receptor, as well as the apoptotic signal active caspase-3 in the levator ani muscle of dogs with and without perineal hernia. Biopsy specimens of the levator ani muscle were obtained from 25 dogs with perineal hernia and 4 non-affected dogs and were processed for Masson and immunohistochemical staining. The affected dogs exhibited myopathological features, internalised nuclei, destruction and abnormal size of muscle fibres, which were replaced by collagen. The immunohistochemical study revealed active caspase-3, epidermal growth factor, transforming growth factor-alpha and epidermal growth factor receptor in the levator ani. Compared to the healthy muscle, transforming growth factor-alpha staining intensity was lower in the affected muscle, whereas epidermal growth factor receptor and active caspase-3 staining were higher. Pelvic diaphragm muscle weakening is the leading cause of perineal hernia in the dog. Survival and death signals expressed in these muscles may contribute to the pathogenesis of this disease. This study reports epidermal growth factor, transforming growth factor-alpha and epidermal growth factor receptor immunohistochemical expression in the skeletal muscle and suggests that perineal hernia in the dog is accompanied by levator ani muscle atrophy, increased expression of epidermal growth factor receptor, caspase-3 activation, and decreased expression of transforming growth factor-alpha. © 2011 British Small Animal Veterinary Association.

  7. The Urethral Rhabdosphincter, Levator Ani Muscle, and Perineal Membrane: A Review

    Science.gov (United States)

    Hinata, Nobuyuki; Murakami, Gen

    2014-01-01

    Detailed knowledge of the anatomy of the rhabdosphincter and adjacent tissues is mandatory during urologic surgery to ensure reliable oncologic and functional outcomes. To characterize the levator ani (LA) function for the urethral sphincter, we described connective tissue morphology between the LA and urethral rhabdosphincter. The interface tissue between the LA and rhabdosphincter area in males contained abundant irregularly arrayed elastic fibers and smooth muscles. The male rhabdosphincter was positioned alongside the LA to divide the elevation force and not in-series along the axis of LA contraction. The male perineal membrane was thin but solid and extends along the inferior margin or bottom of the rhabdosphincter area. In contrast, the female rhabdosphincter, including the compressor urethrae and urethrovaginal sphincter muscles, was embedded in the elastic fiber mesh that is continuous with the thick, multilaminar perineal membrane. The inferomedial edge of the female LA was attached to the upper surface of the perineal membrane and not directly attached to the rhabdosphincter. We presented new diagrams showing the gender differences in topographical anatomy of the LA and rhabdosphincter. PMID:24877147

  8. [Sonographic evaluation of the levator ani muscle in women with stress urinary incontinence].

    Science.gov (United States)

    Stachowicz, Norbert; Stachowicz, Sylwia; Smoleń, Agata; Morawska, Dorota; Kotarski, Jan

    2012-09-01

    Three-dimensional sonography has been used for about 15 years, not only to examine the female genital organs, but also the lower urinary tract and pelvic floor. Three-dimensional sonography offers more information than traditional two-dimensional sonography allowing for a dynamic representation of the examined structures and observation at any angle necessary. Translabial sonography is the best way of a sonographic examination of the lower urinary tract, because it does not affect the mutual relationship of any parts in the lower pelvic area, contrary to the transrectal or transvaginal probes. In order to establish proper treatment of the urinary incontinence symptoms, not only a functional examination of the lower urinary tract, but also a very accurate assessment of the statics of the female genital organs and pelvic floor need to be performed. The aim of the study was to rate the area and diameters of the limbs of the levator ani muscle using a three-dimensional (3D) translabial sonography in women with stress urinary incontinence without the female genital tract prolapse. The study group included 100 patients who were examined with the GE Kretz Voluson 730 (GE, Austria), equipped with 6-9 MHz translabial probe. The first group with stress urinary incontinence consisted of 50 women (mean age 56.22 (+/- 10.43) years) and the second group included 50 women without symptoms (mean age 49.40 (+/- 13.22) years). All cases of urinary stress incontinence in the first group were confirm by means of a urodynamic examination. Women in both groups had similar body weight (kilograms), mean (+/- SD): 26.88 (+/- 2.02) and 26.20 (+/- 4,14), respectively. Menopausal status in both groups was not statistically significant and amounted to 7.21 (+/- 8.71) in the group of women with stress urinary incontinence and 4.70 (+/- 6.32) in the group without symptoms. Mean (+/- SD) number of deliveries was significantly higher in the group of women with stress urinary incontinence than in

  9. Third- or Fourth-Degree Intrapartum Anal Sphincter Tears Are Associated With Levator Ani Avulsion in Primiparas.

    Science.gov (United States)

    Valsky, Dan V; Cohen, Sarah M; Lipschuetz, Michal; Hochner-Celnikier, Drorith; Daum, Hagit; Yagel, Itai; Yagel, Simcha

    2016-04-01

    We evaluated primiparous women with clinically diagnosed third- and fourth-degree and anal sphincter tears, to evaluate the rate of levator ani muscle injury compared to primiparous women without sphincter tears. Primiparous women delivering in our maternity ward with intrapartum diagnoses of third- or fourth-degree anal sphincter tears, repaired by the overlapping technique, were recruited to undergo 3-dimensional transperineal sonography of the pelvic floor anatomy, including the anterior and posterior compartments. Primiparas with uncomplicated vaginal deliveries were recruited as a comparison group. Patient files were examined, and maternal backgrounds and delivery and neonatal details were extracted for all patients. Ninety-four women with tears were recruited to the study group, and 464 women with normal vaginal deliveries constituted the comparison group. The groups differed significantly in the rates of levator ani defects: 38 of 94 women (40.4%) in the study group versus 75 of 464 (16.2%) in the comparison group (P tears are associated with levator ani avulsion. Knowledge of complex pelvic floor damage may allow for prompt referral to secondary preventive measures for pelvic floor disorders. © 2016 by the American Institute of Ultrasound in Medicine.

  10. Levator Ani Necrosis: An Exceptional Complication Occurring after “High Intensity Focused Ultrasound” of the Prostate

    Directory of Open Access Journals (Sweden)

    Danny Badawy

    2016-01-01

    Full Text Available High intensity focused ultrasound (HIFU is a minimally invasive treatment option that might be considered in the management of localized prostate cancer. It is a well-tolerated treatment with few minor urologic complications and no major toxicities. In this paper, we report to our knowledge the first case of levator ani necrosis in a patient treated with HIFU, manifesting as sturdy perineal pain, which took years of NSAID intake and serial MRIs to demonstrate partial improvement. Therefore, we regard HIFU as a serious potential treatment option that still requires longer follow-up data before its approval in the personalized treatment panel of prostate cancer.

  11. Topographic Anatomy of the Anal Sphincter Complex and Levator Ani Muscle as It Relates to Intersphincteric Resection for Very Low Rectal Disease.

    Science.gov (United States)

    Tsukada, Yuichiro; Ito, Masaaki; Watanabe, Kentaro; Yamaguchi, Kumiko; Kojima, Motohiro; Hayashi, Ryuichi; Akita, Keiichi; Saito, Norio

    2016-05-01

    Intersphincteric resection has become a widely used treatment for patients with rectal cancer. However, the detailed anatomy of the anal canal related to this procedure has remained unclear. The purpose of this study was to clarify the detailed anatomy of the anal canal. This is a descriptive study. Histologic evaluations of paraffin-embedded tissue specimens were conducted at a tertiary referral hospital. Tissue specimens were obtained from cadavers of 5 adults and from 13 patients who underwent abdominoperineal resection for rectal cancer. Sagittal sections from 9 circumferential portions of the cadaveric anal canal (histologic staining) and 3 circumferential portions from patients were studied (immunohistochemistry for smooth and skeletal muscle fibers). Longitudinal fibers between the internal and external anal sphincters consisted primarily of smooth muscle fibers that continued from the longitudinal muscle of the rectum. The levator ani muscle attached directly to the lateral surface of the longitudinal smooth muscle of the rectum. The length of the attachment was longer in the anterolateral portion and shorter in the posterior portion of the anal canal. In the lateral and posterior portions, the levator ani muscle partially overlapped the external anal sphincter; however, there was less overlap in the anterolateral portion. In the posterior portion, thick smooth muscle was present on the surface of the levator ani muscle and it continued to the longitudinal muscle of the rectum. We observed only limited portions in some surgical specimens because of obstruction by tumors. The levator ani muscle attaches directly to the longitudinal muscle of the rectum. The spatial relationship between the smooth and skeletal muscles differed in different portions of the anal canal. For intersphincteric resection, dissection must be performed between the longitudinal muscle of the rectum and the levator ani muscle/external anal sphincter, and the appropriate surgical lines

  12. Reliability of levator scapulae index in subjects with and without scapular downward rotation syndrome.

    Science.gov (United States)

    Lee, Ji-Hyun; Cynn, Heon-Seock; Choi, Woo-Jeong; Jeong, Hyo-Jung; Yoon, Tae-Lim

    2016-05-01

    The objective of this study was to introduce levator scapulae (LS) measurement using a caliper and the levator scapulae index (LSI) and to investigate intra- and interrater reliability of the LSI in subjects with and without scapular downward rotation syndrome (SDRS). Two raters measured LS length twice in 38 subjects (19 with SDRS and 19 without SDRS). For reliability testing, intraclass correlation coefficients (ICCs), standard error of measurement (SEM), and minimal detectable change (MDC) were calculated. Intrarater reliability analysis resulted with ICCs ranging from 0.94 to 0.98 in subjects with SDRS and 0.96 to 0.98 in subjects without SDRS. These results represented that intrarater reliability in both groups were excellent for measuring LS length with the LSI. Interrater reliability was good (ICC: 0.82) in subjects with SDRS; however, interrater reliability was moderate (ICC: 0.75) in subjects without SDRS. Additionally, SEM and MDC were 0.13% and 0.36% in subjects with SDRS and 0.35% and 0.97% in subjects without SDRS. In subjects with SDRS, low dispersion of the measurement errors and MDC were shown. This study suggested that the LSI is a reliable method to measure LS length and is more reliable for subjects with SDRS. Copyright © 2015 Elsevier Ltd. All rights reserved.

  13. Inter-rater reliability of assessment of levator ani muscle strength and attachment to the pubic bone in nulliparous women.

    Science.gov (United States)

    van Delft, K; Schwertner-Tiepelmann, N; Thakar, R; Sultan, A H

    2013-09-01

    The modified Oxford scale (MOS) has been found previously to have poor inter-rater reliability, whereas digital assessment of levator ani muscle (LAM) attachment to the pubic bone has been shown to have acceptable reliability. Our aim was to evaluate inter-rater reliability of the validated MOS and to develop a reliable classification system for digital assessment of LAM attachment, correlating this to findings on transperineal ultrasound (TPUS) examination. Evaluation of the MOS by palpation was performed in nulliparous women by two investigators. LAM attachment was evaluated using digital palpation, for which a novel classification system was developed with four grades based on the position of the attachment and presence of discernible muscle. Findings were compared with those on TPUS examination. Inter-rater reliability was assessed using Cohen's kappa statistic. Twenty-five nulliparous women were examined. There was agreement in MOS scores between the investigators in 64% of women (n = 16), with a kappa of 0.66 (indicating substantial agreement). There was agreement in palpation of LAM attachment using the new grading system in 96% of women (n = 24), with a kappa of 0.90 (indicating almost perfect agreement). TPUS examination did not show LAM avulsion in any woman, with the exception of one with a partial avulsion. In this group of nulliparous patients, there was substantial agreement between the two investigators in evaluation of the MOS and there was good agreement between grades of LAM attachment using the new classification system, which correlated with findings on TPUS examination. It therefore appears that these results are reproducible in nulliparous women and the techniques can be readily learned and reliably incorporated into clinical practice and research after appropriate training. Further research is required to establish clinical utility of the grading system for LAM attachment in postpartum women and in women with symptomatic pelvic organ

  14. Assessment of degree of trauma and levator ani muscle contraction function after pelvic floor reconstruction and traditional surgical treatment of pelvic organ prolapse

    Directory of Open Access Journals (Sweden)

    Chun-Hua Zhu

    2016-11-01

    Full Text Available Objective: To study the degree of trauma and levator ani muscle contraction function after pelvic floor reconstruction and traditional surgical treatment of pelvic organ prolapse. Methods: Patients with III-IV pelvic organ prolapse who received surgical treatment in our hospital between May 2011 and October 2015 were randomly divided into observation group who received vaginal hysterectomy combined with pelvic floor reconstruction and control group who received vaginal hysterectomy combined with colporrhaphy, and then the degree of trauma, urodynamics and levator ani muscle contraction function were compared between two groups of patients. Results: Operating time, intraoperative blood loss as well as serum CRP, IL-1β, TNF-α, Ins, NE and E content were not significantly different between two groups (P>0.05; 2 weeks after operation, maximum bladder volume and QMax of observation group were significantly higher than those of control group, PdetQMax, PdetMax and PVR were significantly lower than those of control group (P0.05, LAT under Valsalva maneuver was significantly more than that of control group while LHS under Valsalva maneuver was significantly less than that of control group (P<0.05. Conclusions: Pelvic floor reconstruction treatment of pelvic organ prolapse has equivalent degree of surgical trauma to traditional surgery, and has better effect on improving the urination function and levator ani muscle contraction function than traditional surgery.

  15. Sagging Eye Syndrome or Nemaline Rod Myopathy? Divergence Insufficiency with Levator Dehiscence as an Overlapping Symptom between Two Diagnoses

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    Stephanie S. L. Cheung

    2017-01-01

    Full Text Available A 78-year-old woman complained of gradual, painless onset of horizontal binocular diplopia associated with progressive axial weakness. Physical examination revealed esotropia that was greater at distance than at near vision, bilateral levator dehiscence, and normal abducting saccadic speeds. Given the age of the patient and compatible clinical findings, the diagnosis of Sagging Eye Syndrome (SES was made. However, further work-up with a muscle biopsy suggested Sporadic Late-Onset Nemaline Myopathy (SLONM as the cause of her progressive muscle weakness. Although rare, external ophthalmoplegia has been described in the literature as a presenting symptom in SLONM. To elucidate the pathological mechanism for the patient’s diplopia, an MRI of the orbits was performed, which revealed findings consistent with SES. This case aims to highlight the importance of integrating clinical findings during the diagnostic process and serves as a reminder that diplopia can be a common symptom for an uncommon diagnosis.

  16. MRI role in morphological and functional assessment of the levator ani muscle: Use in patients affected by stress urinary incontinence (SUI) before and after pelvic floor rehabilitation

    International Nuclear Information System (INIS)

    Del Vescovo, Riccardo; Piccolo, Claudia Lucia; Vecchia, Nicoletta Della; Giurazza, Francesco; Cazzato, Roberto Luigi; Grasso, Rosario Francesco; Zobel, Bruno Beomonte

    2014-01-01

    Objective: Pelvic floor dysfunctions affect a very high proportion of female population. Magnetic resonance imaging is the only technique able to provide a multiplanar overview of pelvic organs and muscles without the use of ionizing radiation. The aim of our prospective study is to objectively evaluate the effectiveness of perineal re-education applying MR technique. Materials and methods: 22 patients affected by stress urinary incontinence were enrolled in our prospective study. They underwent urogynaecological, urodynamic examinations, and a questionnaire about symptoms (ICIQ-UI) to investigate the degree of their interference with daily activities. Then they underwent a morphological and dynamic MR exam. Results: The pre-perineal rehabilitation MR examinations showed an asymmetry of the levator ani muscle in 87% of patients; the remaining 13% showed a muscular bilateral volume reduction. In the group with unilateral defect, the muscle total volume had values between 15 and 21 cm 3 . Its overall volume was 34.2% smaller on the defective side (9.28 ± 0.26 cm 3 ) compared to the normal side (12.64 ± 12.31 cm 3 , P < 0.001). In patients with a bilateral impairment, the muscle was replaced by fibro-fatty tissue, without a significant asymmetry between the two sides. The post-perineal rehabilitation MR tests showed three different degrees of response to therapy, with a “complete response” found in 67% of patients and no response in 13%. Conclusions: MR is an useful tool in the management of patients affected by stress urinary incontinence with indication for perineal rehabilitation. Its objective data allow to distinguish different types of response to therapy and, consequently, different outcomes in terms of additional treatments

  17. MRI role in morphological and functional assessment of the levator ani muscle: Use in patients affected by stress urinary incontinence (SUI) before and after pelvic floor rehabilitation

    Energy Technology Data Exchange (ETDEWEB)

    Del Vescovo, Riccardo, E-mail: r.delvescovo@unicampus.it; Piccolo, Claudia Lucia, E-mail: c.piccolo@unicampus.it; Vecchia, Nicoletta Della, E-mail: nico.dvecchia@libero.it; Giurazza, Francesco, E-mail: f.giurazza@unicampus.it; Cazzato, Roberto Luigi, E-mail: r.cazzato@unicampus.it; Grasso, Rosario Francesco, E-mail: r.grasso@unicampus.it; Zobel, Bruno Beomonte, E-mail: b.zobel@unicampus.it

    2014-03-15

    Objective: Pelvic floor dysfunctions affect a very high proportion of female population. Magnetic resonance imaging is the only technique able to provide a multiplanar overview of pelvic organs and muscles without the use of ionizing radiation. The aim of our prospective study is to objectively evaluate the effectiveness of perineal re-education applying MR technique. Materials and methods: 22 patients affected by stress urinary incontinence were enrolled in our prospective study. They underwent urogynaecological, urodynamic examinations, and a questionnaire about symptoms (ICIQ-UI) to investigate the degree of their interference with daily activities. Then they underwent a morphological and dynamic MR exam. Results: The pre-perineal rehabilitation MR examinations showed an asymmetry of the levator ani muscle in 87% of patients; the remaining 13% showed a muscular bilateral volume reduction. In the group with unilateral defect, the muscle total volume had values between 15 and 21 cm{sup 3}. Its overall volume was 34.2% smaller on the defective side (9.28 ± 0.26 cm{sup 3}) compared to the normal side (12.64 ± 12.31 cm{sup 3}, P < 0.001). In patients with a bilateral impairment, the muscle was replaced by fibro-fatty tissue, without a significant asymmetry between the two sides. The post-perineal rehabilitation MR tests showed three different degrees of response to therapy, with a “complete response” found in 67% of patients and no response in 13%. Conclusions: MR is an useful tool in the management of patients affected by stress urinary incontinence with indication for perineal rehabilitation. Its objective data allow to distinguish different types of response to therapy and, consequently, different outcomes in terms of additional treatments.

  18. Interest of retro-anal levator plate myorrhaphy in selected cases of descending perineum syndrome with positive anti-sagging test

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    Beco Jacques

    2008-07-01

    Full Text Available Abstract Background Levator plate sagging (LPS, usually called descending perineum syndrome, is one of the main defects encountered in perineology. This defect is classically associated with colo-proctologic functional troubles (dyschesia and anal incontinence but can also induce perineodynia, gynaecological and lower urinary tract symptoms. Methods A retrospective case series of nine female patients (mean age: 44.3 underwent an isolated retro-anal levator plate myorrhaphy (RLPM to treat symptomatic LPS confirmed by rectal examination and/or Perineocaliper®. An anti-sagging test (support of the posterior perineum must significantly improve the symptoms that were resistant to conservative treatment. The effect of the procedure on the symptoms of the 3 axes of the perineum (urological, colo-proctologic and gynecological and on perineodynia was evaluated during a follow up consultation more than 9 months after surgery. The effect of RLPM on the position of the anal margin and on the levator plate angle was studied using rectal examination, Perineocaliper® and retro-anal ultrasound. Results Before surgery, anti-sagging tests were positive for dyschesia, urinary urgency and pain. After a mean follow-up of 16.1 months, RLPM resolved or improved 2/2 cases of stress urinary incontinence, 3/5 of urinary urgency, 3/4 of dysuria, 3/3 of anal incontinence, 7/8 of dyschesia, 3/4 of cystocele, 4/5 of rectocele, 5/8 of dyspareunia and 6/7 of perineodynia. Rectal examination showed a complete suppression of sagging in 4 patients and an improvement in the 5 others. The mean reduction of perineal descent was 1.08 cm (extremes: 0–1.5. Using retro-anal ultrasound of the levator plate, the mean reduction of sagging was 12.67 degrees (extremes: 1 – 21. Conclusion Anti-sagging tests can be used before surgery to simulate the effect of RLPM. This surgical procedure seems to improve stress urinary incontinence, frequency, nocturia, urgency, dysuria, anal

  19. Location of the levator veli palatini insertion following levator retropositioning, palatal pushback, and pharyngeal flap procedures.

    Science.gov (United States)

    Mulliken, J B; Giargiana, F A; Claybaugh, G J; Hoopes, J E

    1975-07-01

    A long-term cineradiographic follow-up study of twenty patients with velo-pharyngeal incompetence fails to demonstrate predictable retrodisplacement of the levator insertion following combined levator retropositioning, pushback, and pharyngeal flap procedures. Simple levator retropositioning gave posterior displacement in the two patients evaluated. Patients with normal or posterior levator insertions pre-operatively all demonstrated post-operative anterior displacement following pharyngeal flap procedures, either alone or in combination with pushback. Anterior levator displacement may be the result of scar contraction or division of the levator sling (during insetting of a pharyngeal flap). Pre-operative and post-operative speech evaluation demonstrated substantial improvement in all except 3 patients; 2 of the poor speech results were patients with demonstrated levator retrodisplacement on post-operative cineradiography.

  20. Work Stress, Premenstrual Syndrome and Dysphoric Disorder: Are There Any Associations?

    OpenAIRE

    Namavar Jahromi, B; Pakmehr, S; Hagh-Shenas, H

    2011-01-01

    Background Women with recurrent and severe symptoms are diagnosed as having premenstrual syndrome (PMS), and if they suffer from severe affective symptoms, a diagnosis of premenstrual dysphoric disorder (PMDD) is made. The purpose of this study was to determine the association of work stress with PMS and PMDD. Methods Fifty-five female medical students in their internship program (ten 24-hour shifts per month) and 38 third-year female medical students without any shift duties were asked to pa...

  1. A Geometric Capacity-Demand Analysis of Maternal Levator Muscle Stretch Required for Vaginal Delivery.

    Science.gov (United States)

    Tracy, Paige V; DeLancey, John O; Ashton-Miller, James A

    2016-02-01

    Because levator ani (LA) muscle injuries occur in approximately 13% of all vaginal births, insights are needed to better prevent them. In Part I of this paper, we conducted an analysis of the bony and soft tissue factors contributing to the geometric "capacity" of the maternal pelvis and pelvic floor to deliver a fetal head without incurring stretch injury of the maternal soft tissue. In Part II, we quantified the range in demand, represented by the variation in fetal head size and shape, placed on the maternal pelvic floor. In Part III, we analyzed the capacity-to-demand geometric ratio, g, in order to determine whether a mother can deliver a head of given size without stretch injury. The results of a Part I sensitivity analysis showed that initial soft tissue loop length (SL) had the greatest effect on maternal capacity, followed by the length of the soft tissue loop above the inferior pubic rami at ultimate crowning, then subpubic arch angle (SPAA) and head size, and finally the levator origin separation distance. We found the more caudal origin of the puborectal portion of the levator muscle helps to protect it from the stretch injuries commonly observed in the pubovisceral portion. Part II fetal head molding index (MI) and fetal head size revealed fetal head circumference values ranging from 253 to 351 mm, which would increase up to 11 mm upon face presentation. The Part III capacity-demand analysis of g revealed that, based on geometry alone, the 10th percentile maternal capacity predicted injury for all head sizes, the 25th percentile maternal capacity could deliver half of all head sizes, while the 50th percentile maternal capacity could deliver a head of any size without injury. If ultrasound imaging could be operationalized to make measurements of ratio g, it might be used to usefully inform women on their level of risk for levator injury during vaginal birth.

  2. Are There Any Natural Remedies That Reduce Chronic Fatigue Associated with Chronic Fatigue Syndrome?

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    ... natural remedies that reduce chronic fatigue associated with chronic fatigue syndrome? Answers from Brent A. Bauer, M.D. Researchers ... a variety of natural products for effectiveness against chronic fatigue syndrome. Most results have been disappointing. A few remedies — ...

  3. Diagnosis of fetal syndromes by three- and four-dimensional ultrasound: is there any improvement?

    Science.gov (United States)

    Barišić, Lara Spalldi; Stanojević, Milan; Kurjak, Asim; Porović, Selma; Gaber, Ghalia

    2017-08-28

    With all of our present knowledge, high technology diagnostic equipment, electronic databases and other available supporting resources, detection of fetal syndromes is still a challenge for healthcare providers in prenatal as well as in the postnatal period. Prenatal diagnosis of fetal syndromes is not straightforward, and it is a difficult puzzle that needs to be assembled and solved. Detection of one anomaly should always raise a suspicion of the existence of more anomalies, and can be a trigger to investigate further and raise awareness of possible syndromes. Highly specialized software systems for three- and four-dimensional ultrasound (3D/4D US) enabled detailed depiction of fetal anatomy and assessment of the dynamics of fetal structural and functional development in real time. With recent advances in 3D/4D US technology, antenatal diagnosis of fetal anomalies and syndromes shifted from the 2nd to the 1st trimester of pregnancy. It is questionable what can and should be done after the prenatal diagnosis of fetal syndrome. The 3D and 4D US techniques improved detection accuracy of fetal abnormalities and syndromes from early pregnancy onwards. It is not easy to make prenatal diagnosis of fetal syndromes, so tools which help like online integrated databases are needed to increase diagnostic precision. The aim of this paper is to present the possibilities of different US techniques in the detection of some fetal syndromes prenatally.

  4. Work stress, premenstrual syndrome and dysphoric disorder: are there any associations?

    Science.gov (United States)

    Namavar Jahromi, B; Pakmehr, S; Hagh-Shenas, H

    2011-03-01

    Women with recurrent and severe symptoms are diagnosed as having premenstrual syndrome (PMS), and if they suffer from severe affective symptoms, a diagnosis of premenstrual dysphoric disorder (PMDD) is made. The purpose of this study was to determine the association of work stress with PMS and PMDD. Fifty-five female medical students in their internship program (ten 24-hour shifts per month) and 38 third-year female medical students without any shift duties were asked to participate in this study. A questionnaire was used to record demographic information and a self-report inventory was used to measure 13 symptoms relevant to PMS and PMDD according to DSM-IV criteria. All participants were asked to complete the inventory every night around midnight for those on shifts or before going to bed at home for 60 consecutive nights. Out of 55 volunteers in the shift-work group, 31 (56%) fulfilled the diagnostic criteria for PMS in contrast to 12 (32%) in the control group. The frequency of PMDD was 12 (22%) in the intern group and 5 (13%) in the control group. Twenty one students (55%) from the control group did not have PMS or PMDD, compared to 12 (22%) students from the shift workers. Decreased energy (70.9%) and irritability (65.4%) were the most frequent symptoms during the luteal phase in the shift-work group. Work stress and an increase in responsibility may produce or exacerbate PMS. Self-help approaches to induce self-awareness, along with psychological and psychiatric interventions, may help susceptible women to overcome this cyclic condition in order to increase their productivity as well as their quality of life.

  5. Changes in Sunken Eyes Combined with Blepharoptosis after Levator Resection

    Directory of Open Access Journals (Sweden)

    Yuki Mawatari, MD, PhD

    2017-12-01

    Conclusions:. The principal aim of levator resection is to improve upper eyelid height and visual fields; however, this technique can alter the location of the eyebrow and upper orbital fat. The effects fill the hollowness of the upper eyelid and can remarkably improve sunken eyes.

  6. Histological evaluation of levator palpebralis superior muscle in patients with congenital blepharoptosis

    Directory of Open Access Journals (Sweden)

    Sevda Söker

    2011-03-01

    Full Text Available The aim of this study was to examine levator palpebralis superior muscle histologically in patients with congenital blepharoptosis and to investigate the relationship between these findings and age, sex and degree of blefaroptosis in this patient group.Materials and methods: Levator muscle of 13 patients with congenital ptosis, who had applied to Dicle University Medical Faculty Ophthalmology Clinic and had undergone levator palpebralis superior muscle resection between january 2009-january 2010, has been examined histopathologically in Histology and Embriology Deparment. During preoperative period, ptosis amount, levator function (LF, tear functions, Bell’s phenomenon and jaw-winking phenomenon were evaluated. All patients underwent resection of levator palpebralis superior muscle. Received postoperative levator muscle was examined by light microscopy.Results: The average age of 9 (69.2% male and 4 (30.8% female cases were 10.61 ± 4.77 (4- 19 years. In histological examination, the quality and quantity of the levator muscle fibrils have been assessed. There was no relationship detected between histological features of levator palpebralis superior muscle and patient’s age and gender (p>0.05. Patients with weak levator palpebralis superior muscle were detected to have fatty degeneration histologically. The higher the levator palpebralis superior muscle function revealed decreased fatty degeneration and increased skeletal muscle fibrils.Conclusion: More ultrastructural studies in larger populations are needed to support the relationship between structure and function of levator palpebralis superior muscle in patients with congenital blepharoptosis.

  7. Is there any link between joint hypermobility and mitral valve prolapse in patients with fibromyalgia syndrome?

    Science.gov (United States)

    Kozanoglu, Erkan; Coskun Benlidayi, Ilke; Eker Akilli, Rabia; Tasal, Abdurrahman

    2016-04-01

    The objective of the present study is to determine whether benign joint hypermobility syndrome (BJHS) modifies the risk of mitral valve prolapse (MVP) in patients with fibromyalgia (FM). Female patients fulfilling the 1990 American College of Rheumatology (ACR) diagnostic criteria for FM were included into the study. Joint hypermobility and BJHS were assessed using Beighton's scoring system and Brighton criteria, respectively. Echocardiograpic evaluation was performed in order to test the presence of MVP. Of the 75 female FM patients, 68.0 % (n = 51) and 20.0 % (n = 15) were diagnosed with BJHS and MVP, respectively. The frequencies of both MVP and BJHS seemed higher than the general population prevalence (p = 0.000 for both). The frequency of MVP was significantly higher in patients with BJHS than that in patients without BJHS (p = 0.028). In addition, BJHS was found to increase the risk of MVP approximately ninefold [odds ratio (OR) 8.7, 95 % confidence interval (CI) 1.1-70.7]. As a result, BJHS and MVP are both common in female patients with FM. Moreover, among the female patients with FM, those with BJHS are about nine times more prone to MVP than those without BJHS. Cardiologic assessment might be added to the routine follow-up strategies in FM patients with BJHS in order to exclude the cardiac pathologies, especially MVP.

  8. Polycystic ovary syndrome and fibrocystic breast disease: is there any association?

    Science.gov (United States)

    Gumus, Ilknur Inegol; Koktener, Asli; Dogan, Dilek; Turhan, Nilgun Ozturk

    2009-08-01

    We aimed to investigate the association between a polycystic ovary syndrome (PCOS) and fibrocystic breast disease. A total of 93 women, aged between 17 and 36 years, not using oral contraceptives, were entered in this case-control study. Laboratory, clinical and ultrasound findings were used to diagnose PCOS. The study group was consisted of 53 PCOS women and the control group consisted of 40 women. Breast ultrasonography was performed for all patients. Fibrocystic breast disease is described as common benign changes involving the tissues of the breast. Twenty-one (39.6%) of 53 women with a PCOS had fibrocystic breast disease. Five (8%) of 40 controls had fibrocystic breast disease. The difference between the groups was statistically significant (p = 0.004). Relative risk (95% CIs) was 3.17 (1.31-7.68). Overall sonographic benign breast pathologies were significantly higher in the PCOS group (p = 0.036). This study showed a statistically significant association between a PCOS and fibrocystic breast disease. Women with a PCOS should be evaluated for fibrocystic breast disease.

  9. Are there any association between polycistic ovary syndrome and congenital abnormalities of Müllerian ducts.

    Science.gov (United States)

    Tubić-Pavlović, Aleksandra; Radović-Janosević, Dragana; Petrić, Aleksandra; Stefanović, Milan

    2014-06-01

    There are many specificities of merital infertility and sometimes surprising connections between some thinks with no connections at first sight. Examinations of these patients imply diagnostic actions such as the blood basal hormone sample, doing hysterosalpingography, ultrahysterosonography, ultrasound examinations, and sometimes laparoscopy and hysteroscopy if there are necessary. The aim of the study was to determine the characteristics of the connection between policystic ovary (PCO) syndrome (Sy) and congenital Müllerian ducts abnormalities. This study included 356 patients treated in the period from January 1, to December 31, 2009, in the Department of Infertility of the Clinic for Obstetrics and Gynecology in Nis, Serbia. Exclusion criteria were no myoma, ovary cysts, tubal and male factors of infertility. A total of 180 patients were divided into 3 groups: the group I with PCO sy, the group II with uterine congenital malformation and the group III with a combination of these disorders. The middle age of patients was 29.6 +/- 4.8, body mass index (BMI) was 26.1 +/- 4,8 kg/m2 the middle thicknes of endometrium was 5.2 + 2.7 mm, and there were no significant differences between the examined groups. There were no significant among in a number of miscarriages in the examined groups. We found that PCO Sy and congenital abnormalities of Müllerian ducts were conjoint in 30% of examined patients. Conjoined PCO Sy and congenital abnormalities of Müllerian ducts do not result in a higher number of miscarriages than only either PCO Sy or abnormalities of Müllerian ducts. It is important to check BMI, basal level of follicle stimulating hormone and number of antral follicles because the induction protocol and concentracion of inductors depends on these characteristics, thus, the succsessful cycles and pregnancy.

  10. Cervical Length and Androgens in Pregnant Women With Polycystic Ovary Syndrome: Has Metformin Any Effect?

    Science.gov (United States)

    Shetelig Løvvik, Tone; Stridsklev, Solhild; Carlsen, Sven M; Salvesen, Øyvind; Vanky, Eszter

    2016-06-01

    Women with polycystic ovary syndrome (PCOS) have increased risk of preterm delivery. Shortening of the cervix is a sign of preterm delivery. This study aimed to investigate potential effect of metformin on cervical length and whether androgen levels correlate with cervical length in PCOS pregnancies. This was a sub-study of a randomized, placebo-controlled, multicenter study (The PregMet study) performed at 11 secondary or tertiary centers from 2005 to 2009. Two-hundred sixty-one pregnancies of 245 women with PCOS, age 18-42 years participated. Participants were randomly assigned to metformin or placebo from first trimester to delivery. We compared cervical length and androgen levels in metformin and placebo groups at gestational weeks 19 and 32. We also explored whether cervical length correlated with androgen levels. We found no difference in cervical length between the metformin and the placebo groups at gestational week 19 and 32. Dehydroepiandrosterone (DHEAS) tended to be higher in the metformin group. There were no correlations between androgens and cervical length at week 19. At gestational week 32, androstenedione (P = .02) and DHEAS (P = .03) showed a trend toward negative correlation to cervical length. High androstenedione level correlated with shortening of cervical length from week 19 to 32 when adjusted for confounders (P = .003). T (P = .03), DHEAS (P = .02), and free testosterone index (P = .03) showed a similar trend. Metformin in pregnancy did not affect cervical length in women with PCOS. High maternal androgen levels correlated with cervical shortening from the second to the third trimester of pregnancy, as a sign of cervical ripening.

  11. Small intestinal bacterial overgrowth in irritable bowel syndrome: are there any predictors?

    Directory of Open Access Journals (Sweden)

    McCallum Richard W

    2010-02-01

    Full Text Available Abstract Background Small intestinal bacterial overgrowth (SIBO is a condition in which excessive levels of bacteria, mainly the colonic-type species are present in the small intestine. Recent data suggest that SIBO may contribute to the pathophysiology of Irritable bowel syndrome (IBS. The purpose of this study was to identify potential predictors of SIBO in patients with IBS. Methods Adults with IBS based on Rome II criteria who had predominance of bloating and flatulence underwent a glucose breath test (GBT to determine the presence of SIBO. Breath samples were obtained at baseline and at 30, 45, 60, 75 and 90 minutes after ingestion of 50 g of glucose dissolved in 150 mL of water. Results of the glucose breath test, which measures hydrogen and methane levels in the breath, were considered positive for SIBO if 1 the hydrogen or methane peak was >20 ppm when the baseline was Results Ninety-eight patients were identified who underwent a GBT (mean age, 49 y; 78% female. Thirty-five patients (36% had a positive GBT result suggestive of SIBO. A positive GBT result was more likely in patients >55 years of age (odds ratio [OR], 3.6; 95% confidence interval [CI], 1.4-9.0 and in females (OR, 4.0; 95% CI, 1.1-14.5. Hydrogen was detected more frequently in patients with diarrhea-predominant IBS (OR, 8; 95% CI, 1.4-45, and methane was the main gas detected in patients with constipation-predominant IBS (OR, 8; 95% CI, 1.3-44. There was no significant correlation between the presence of SIBO and the predominant bowel pattern or concurrent use of tegaserod, proton pump inhibitors, or opiate analgesics. Conclusions Small intestinal bacterial overgrowth was present in a sizeable percentage of patients with IBS with predominance of bloating and flatulence. Older age and female sex were predictors of SIBO in patients with IBS. Identification of possible predictors of SIBO in patients with IBS could aid in the development of successful treatment plans.

  12. Predictive images of postoperative levator resection outcome using image processing software

    OpenAIRE

    Mawatari, Yuki; Fukushima, Mikiko

    2016-01-01

    Yuki Mawatari,1 Mikiko Fukushima2 1Igo Ophthalmic Clinic, Kagoshima, 2Department of Ophthalmology, Faculty of Life Science, Kumamoto University, Chuo-ku, Kumamoto, Japan Purpose: This study aims to evaluate the efficacy of processed images to predict postoperative appearance following levator resection.Methods: Analysis involved 109 eyes from 65 patients with blepharoptosis who underwent advancement of levator aponeurosis and Müller’s muscle complex (levator resection). P...

  13. Preliminary experiments on dynamic biology of micro-organisms to avoid any specific full-blown syndrome on humans

    Science.gov (United States)

    Meer, Sneer

    2002-06-01

    The aim of this paper is to apply an efficient system to detect, identify and quicken suppression of any dangerous micro-organism which threatens the health of the human body in any form. It is well known that some specimens of this kind of possess a specific energy related to their speed of division, toxin emissions and high-powered interaction with human and animal cells which have the capacity to provide certain deadly full-blown syndromes. Many problems relating to the above-mentioned properties have not been clarified to date, and it is vital to find a rapid and valid reply as soon as possible. Inter-disciplinary sciences directed us to start some experiments to solve such problems, considering that the human body is dotted with a multiple interactive system of energy release, a fact which can explain the source of the micro-organism's energy also, for their necessity to manifest their deadly pathology. From practical preliminary experiments with some micro-mechanical systems using light-microscopy, connected to video TV Recorder System, one obtains optical enlarged TV images of certain processes which indicated the right way towards our crucial target; ie: the preparation of safe vaccines and safe medicines. This will constitute a basic system to a void deadly manifestations of dangerous micro-organisms and/or even regular infections on earth and in space, a system which will probably be applied at the ISS Space Station and other future actions in space in long and very long flights. We look forward to applying this system of dynamic biology towards preparation of a real and valid vaccine(s) against HIV virus on AIDS diseases.

  14. CT findings of swyer-james-macleod syndrome in adults: are there any different findings with aging

    International Nuclear Information System (INIS)

    Kang, Mi Jin; Kim, Joung Sook; Kim, Ji Young; Kim, Soung Hee; Jeong, Myeong Ja; Kim, Soo Hyun; Kim, Jae Hyung; Bae, Sang Jin; Woo, Jeong Joo

    2007-01-01

    We wanted to evaluate whether there is any different finding on CT with aging for the patients suffering with adult Swyer-James-MacLeod Syndrome (SJMS). We included 11 patients (7 males and 4 females) who underwent chest CT scan among 18 patients who were suspected of suffering with SJMS on chest radiographs. The range of age was from 28 to 85 years (mean: 58.5). We evaluated the diameter of both the main pulmonary artery (MPA) with its ratio, and the diameter of the pulmonary trunk (PT) to evaluate the possibility of pulmonary arterial hypertension, and the presence or absence of bronchiectasis. We also evaluated the relationships between these findings and aging. SJMS affected the left lung in 10 of 11 patients. The mean diameter of the main pulmonary artery of the normal lung was 2.5 cm and it was 1.6 cm in the involved site. The mean ratio of the normal MPA diameter to the involved one was 1.6 and this did not correlate with age (ρ > 0.1). The mean diameter of the pulmonary trunk was 2.8 cm and this increased with age (ρ 0.5). SJMS absolutely affected the left lung much more than right lung. All the patients demonstrated about 1.6 times the compensatory hypertrophy of MPA of the normal lung compared with that of the affected lung on chest CT, which was irrespective of age. The presence or absence of bronchiectasis has no correlation with age

  15. CT findings of swyer-james-macleod syndrome in adults: are there any different findings with aging

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Mi Jin; Kim, Joung Sook; Kim, Ji Young; Kim, Soung Hee; Jeong, Myeong Ja; Kim, Soo Hyun; Kim, Jae Hyung [Sanggye Paik Hospital, Inje University College of Medicine, Seoul (Korea, Republic of); Bae, Sang Jin [National Police Hospital, Seoul (Korea, Republic of); Woo, Jeong Joo [Eulji Hospital, Eulji University College of Medicine, Daejeon (Korea, Republic of)

    2007-02-15

    We wanted to evaluate whether there is any different finding on CT with aging for the patients suffering with adult Swyer-James-MacLeod Syndrome (SJMS). We included 11 patients (7 males and 4 females) who underwent chest CT scan among 18 patients who were suspected of suffering with SJMS on chest radiographs. The range of age was from 28 to 85 years (mean: 58.5). We evaluated the diameter of both the main pulmonary artery (MPA) with its ratio, and the diameter of the pulmonary trunk (PT) to evaluate the possibility of pulmonary arterial hypertension, and the presence or absence of bronchiectasis. We also evaluated the relationships between these findings and aging. SJMS affected the left lung in 10 of 11 patients. The mean diameter of the main pulmonary artery of the normal lung was 2.5 cm and it was 1.6 cm in the involved site. The mean ratio of the normal MPA diameter to the involved one was 1.6 and this did not correlate with age ({rho} > 0.1). The mean diameter of the pulmonary trunk was 2.8 cm and this increased with age ({rho} < 0.05). There was bronchiectasis in 6 of 11 patients, and the ratio of bronchiectasis did not correlate with age ({rho} > 0.5). SJMS absolutely affected the left lung much more than right lung. All the patients demonstrated about 1.6 times the compensatory hypertrophy of MPA of the normal lung compared with that of the affected lung on chest CT, which was irrespective of age. The presence or absence of bronchiectasis has no correlation with age.

  16. Association between levator hiatal dimensions on ultrasound during first pregnancy and mode of delivery

    NARCIS (Netherlands)

    van Veelen, G. A.; Schweitzer, K. J.; van Hoogenhuijze, N. E.; van der Vaart, C. H.

    Objectives To determine the association between levator hiatal dimensions, measured using transperineal ultrasound, in women during their first pregnancy and the subsequent mode of delivery, stratified by the indication for intervention. Methods In this prospective observational study, 280

  17. Mucosal Immune Cell Numbers and Visceral Sensitivity in Patients With Irritable Bowel Syndrome: Is There Any Relationship

    NARCIS (Netherlands)

    Braak, Breg; Klooker, Tamira K.; Wouters, Mira M.; Welting, Olaf; van der Loos, Chris M.; Stanisor, Oana I.; van Diest, Sophie; van den Wijngaard, Rene M.; Boeckxstaens, Guy E.

    2012-01-01

    OBJECTIVES: Repeated exposure to stress leads to mast cell degranulation, microscopic inflammation, and subsequent visceral hypersensitivity in animal models. To what extent this pathophysiological pathway has a role in patients with the irritable bowel syndrome (IBS) has not been properly

  18. NMR imaging of the anal levator and sphincter muscles in anorectal malformations

    International Nuclear Information System (INIS)

    Aoyagi, Hiroshi; Takahashi, Hideyo; Maie, Masahiko; Ohnuma, Naomi; Etoh, Takao; Iwai, Jun

    1986-01-01

    Magnetic resonance imaging (MRI) of the anal levater and sphincter muscles was obtained on 4 normal volunteers and 11 patients with postoperative anorectal malformations (including 8 supra-levator type and 3 low type). Balloon catheter were inserted into the rectum and marked it as the center of a anal canal. Four normal subjects revealed the levater and sphincter muscles were thick and well developed in all sections (Sagittal, Transevse, Coronal). In most of the supra-levator type of anorectal malformations, thin levator and sphincter muscles were observed by Sagittal and Coronal scans. Transeverse scan revealed that the neorectum was not effectively pull-throughed into the puborectal muscle in one patient. Coronal scan showed the dameged external sphincter muscle. In three low types of anorectal malformations, the levator and the sphincter muscles were all well developed, but in one patient the external sphincter muscle existed at the posterior part of the anal canal. These observations were usefull in managing the postoperative care of anorectal malformations. (author)

  19. The Relationship of Amount of Resection and Time for Recovery of Bell’s Phenomenon after Levator Resection in Congenital Ptosis

    Science.gov (United States)

    Goel, Ruchi; Kishore, Divya; Nagpal, Smriti; Jain, Sparshi; Agarwal, Tushar

    2017-01-01

    Background: Recovery of Bell`s phenomenon after levator resection is unpredicatable. Delayed recovery can result in vision threatening corneal complications. Aim: To study the variability of Bell’s phenomenon and time taken for its recovery following levator resection for blepharoptosis and to correlate it with the amount of resection. Methods: A prospective observational study was conducted on 32 eyes of 32 patients diagnosed as unilateral simple congenital blepharoptosis who underwent levator resection at a tertiary care center between July 2013 and May 2015. Patients were followed up for 5 months and correction of ptosis, type of Bell`s, duration of Bell`s recovery and complications were noted. Results: The study group ranged from 16-25 years with 15:17 male: female ratio. There were 9 mild, 16 moderate and 7 severe ptosis. Satisfactory correction was achieved in all cases. Good Bell`s recovery occurred in 13 eyes on first post-op day, in 2-14 days in 19 eyes and 28 days in 1 eye. Inverse Bell`s was noted along with lid oedema and ecchymosis in 2 patients. Large resections (23-26mm) were associated with poor Bell`s on the first postoperative day (p=0.027, Fisher`s exact test). However, the duration required for recovery of Bell`s phenomenon did not show any significant difference with the amount of resection. (p=0.248, Mann Whitney test). Larger resections resulted in greater lagophthalmos (correlation=0.830, p<0.0001). Patients with recovery of Bell`s delayed for more than 7 days were associated with greater number of complications (p=0.001 Fisher`s Exact Test). Conclusion: Close monitoring for Bell`s recovery is required following levator resection. PMID:28584563

  20. Metabolic syndrome and occupation: Any association? Prevalence among auto technicians and school teachers in South West Nigeria.

    Science.gov (United States)

    Akintunde, Adeseye A; Oloyede, Taiwo W

    2017-11-01

    To determine occupational association with metabolic syndrome among auto technicians and school teachers. One hundred and sixty six subjects were selected for this study. Clinical data was obtained while laboratory investigations including plasma glucose and lipid profile were performed. Statistical analysis was done with SPSS 20.0. Pauto technicians. Mean serum triglycerides was significantly higher among auto-technicians compared to school teachers in this study. The prevalence of some conventional cardiovascular risk factors was significantly higher among auto-technicians compared to school teachers: Impaired blood glucose (9.6% vs. 1.2%, pauto-technicians. Based on the WHO and the Harmonized criteria, metabolic syndrome was more frequent among auto-technicians compared to school teachers. (8.4% vs. 1.2% and 19.3% vs. 7.2% respectively, pauto technicians despite their high level of physical activity, exertion and education compared to teachers. This may be related to the increased occupational exposure to organic and inorganic materials from dust particles, oil and oil related matter and particulate matter among auto technicians. Prompt definitive evaluation of this concept and appropriate health education to encourage safety mechanism can reduce this burden of metabolic syndrome among auto technicians in Nigeria. Copyright © 2016 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  1. Analysis of visual outcomes and complications following levator resection for unilateral congenital blepharoptosis without strabismus

    Directory of Open Access Journals (Sweden)

    Shu-Ya Wu

    2013-08-01

    Full Text Available Background: It is challenging to manage congenital blepharoptosis, especially unilateral, because symmetry is difficult to achieve under general anesthesia and age at which the ptosis should be corrected is still controversial. The aim of our study is to analyze visual and surgical outcomes after levator resection for unilateral congenital blepharoptosis. Methods: Charts of patients with unilateral congenital blepharoptosis who underwent levator resection at the Chang Gung Memorial Hospital from 1991 through 2000 were reviewed. The resultant database was interrogated for demographic data, severity, surgical timing, visual outcomes, surgical outcomes, and complications. Results: Eighty-four children underwent levator resection for unilateral congenital blepharoptosis: 16.7% of these patients had amblyopia and 84.5% had surgical success following levator resection. Severe ptosis (p = 0.0288, p < 0.05 and surgery at less than 2 years of age (p = 0.0126, p < 0.05 were the important factors contributing to surgical failure. Age at surgery (p = 0.0058, p < 0.01 and amblyogenic ametropia (p = 0.0001, p < 0.001 were found to be significantly associated with the postoperative visual results. Conclusion: The levator resection provides satisfactory results both in function and cosmesis in patients with unilateral congenital blepharoptosis. Amblyogenic ametropia is the leading cause of amblyopia in the patients with unilateral isolated congenital blepharoptosis. However, patients with unilateral congenital blepharoptosis should have cycloplegic refraction as early as possible, and their visual status monitored until visual maturity.

  2. Botulinum neurotoxin type A injections for vaginismus secondary to vulvar vestibulitis syndrome.

    Science.gov (United States)

    Bertolasi, Laura; Frasson, Emma; Cappelletti, Jee Yun; Vicentini, Silvana; Bordignon, Monia; Graziottin, Alessandra

    2009-11-01

    To investigate whether botulinum neurotoxin type A improves vaginismus and study its efficacy with repeated treatments. Outpatients were referred because standard cognitive-behavioral and medical treatment for vaginismus and vulvar vestibular syndrome failed. From this group, we prospectively recruited consecutive women (n=39) whose diagnostic electromyogram (EMG) recordings from the levator ani muscle showed hyperactivity at rest and reduced inhibition during straining. These women were followed for a mean (+/-standard deviation) of 105 (+/-50) weeks. Recruited patients underwent repeated cycles of botulinum neurotoxin type A injected into the levator ani under EMG guidance and EMG monitoring thereafter. At enrollment and 4 weeks after each cycle, women were asked about sexual intercourse; underwent EMG evaluation and examinations to grade vaginal resistance according to Lamont; and completed a visual analog scale (VAS) for pain, the Female Sexual Function Index Scale, a quality-of-life questionnaire (Short-Form 12 Health Survey), and bowel and bladder symptom assessment. At 4 weeks after the first botulinum neurotoxin type A cycle, the primary outcome measures (the possibility of having sexual intercourse, and levator ani EMG hyperactivity) both improved, as did the secondary outcomes, Lamont scores, VAS, Female Sexual Function Index Scales, Short-Form 12 Health Survey, and bowel-bladder symptoms. These benefits persisted through later cycles. When follow-up ended, 63.2% of the patients completely recovered from vaginismus and vulvar vestibular syndrome, 15.4% still needed reinjections (censored), and 15.4% had dropped out. Botulinum neurotoxin type A is an effective treatment option for vaginismus secondary to vulvar vestibular syndrome refractory to standard cognitive-behavioral and medical management. After patients received botulinum neurotoxin type A, their sexual activity improved and reinjections provided sustained benefits. III.

  3. Predictive images of postoperative levator resection outcome using image processing software.

    Science.gov (United States)

    Mawatari, Yuki; Fukushima, Mikiko

    2016-01-01

    This study aims to evaluate the efficacy of processed images to predict postoperative appearance following levator resection. Analysis involved 109 eyes from 65 patients with blepharoptosis who underwent advancement of levator aponeurosis and Müller's muscle complex (levator resection). Predictive images were prepared from preoperative photographs using the image processing software (Adobe Photoshop ® ). Images of selected eyes were digitally enlarged in an appropriate manner and shown to patients prior to surgery. Approximately 1 month postoperatively, we surveyed our patients using questionnaires. Fifty-six patients (89.2%) were satisfied with their postoperative appearances, and 55 patients (84.8%) positively responded to the usefulness of processed images to predict postoperative appearance. Showing processed images that predict postoperative appearance to patients prior to blepharoptosis surgery can be useful for those patients concerned with their postoperative appearance. This approach may serve as a useful tool to simulate blepharoptosis surgery.

  4. Levator claviculae muscle presenting as a hard clavicular mass: imaging study

    International Nuclear Information System (INIS)

    Ruiz Santiago, F.; Lopez Milena, G.; Tristan Fernandez, J.M.; Chamorro Santos, C.

    2001-01-01

    We report a case of levator claviculae muscle presenting clinically as a hard mass in the clavicular area due to angular deformity of this bone. To our knowledge, this is the first report where the anomalous muscle shows this clinical presentation. (orig.)

  5. Predictive images of postoperative levator resection outcome using image processing software

    Directory of Open Access Journals (Sweden)

    Mawatari Y

    2016-09-01

    Full Text Available Yuki Mawatari,1 Mikiko Fukushima2 1Igo Ophthalmic Clinic, Kagoshima, 2Department of Ophthalmology, Faculty of Life Science, Kumamoto University, Chuo-ku, Kumamoto, Japan Purpose: This study aims to evaluate the efficacy of processed images to predict postoperative appearance following levator resection.Methods: Analysis involved 109 eyes from 65 patients with blepharoptosis who underwent advancement of levator aponeurosis and Müller’s muscle complex (levator resection. Predictive images were prepared from preoperative photographs using the image processing software (Adobe Photoshop®. Images of selected eyes were digitally enlarged in an appropriate manner and shown to patients prior to surgery.Results: Approximately 1 month postoperatively, we surveyed our patients using questionnaires. Fifty-six patients (89.2% were satisfied with their postoperative appearances, and 55 patients (84.8% positively responded to the usefulness of processed images to predict postoperative appearance.Conclusion: Showing processed images that predict postoperative appearance to patients prior to blepharoptosis surgery can be useful for those patients concerned with their postoperative appearance. This approach may serve as a useful tool to simulate blepharoptosis surgery. Keywords: levator resection, blepharoptosis, image processing, Adobe Photoshop® 

  6. Thixotropy of levator palpebrae as the cause of lagophthalmos after peripheral facial nerve palsy

    NARCIS (Netherlands)

    Aramideh, M.; Koelman, J. H. T. M.; Devriese, P. P.; Speelman, J. D.; Ongerboer de Visser, B. W.

    2002-01-01

    Patients with facial nerve palsy are at risk of developing corneal ulceration because of lagophthalmos (incomplete closure of the affected eyelid). Lagophthalmos could result from thixotropy of the levator palpebrae muscle-that is, the formation of tight crossbridges between the actin and myosin

  7. The effect of cleft maxillary distraction osteogenesis on the levator veli palatini and velopharyngeal function.

    Science.gov (United States)

    Chen, Philip Kuo-Ting; Por, Yong-Chen; Liou, Eric Jein-Wein; Chang, Frank Chun-Shin

    2015-05-01

    Le Fort I maxillary distraction with the rigid external distraction (RED) device is performed to correct severe midface retrusion in cleft patients, but it may adversely affect velopharyngeal function. This study aims to investigate the angular changes in the levator veli palatini (LVP) and its influence on velopharyngeal function after maxillary distraction using 3-dimensional computed tomography (3D CT) scan volume rendered images. This was a retrospective study of 12 patients. Group 1 had no velopharyngeal function deterioration and group 2 had velopharyngeal function deterioration. Preoperative and 1 year postoperative CT scans were analyzed with Mimics v10 software. Segmentation of the LVP and the nasopharyngeal airway was performed and volumetric images were obtained. Six measurements were made: (1) the angle between the levator plane and the Frankfort horizontal, (2) the angle between the levator plane and the soft palate plane, (3) the angle between the 2 LVP muscles, (4) the pharyngeal depth, and (5, 6) the movement of the inferior pharyngeal point with respect to the horizontal and vertical planes. The independent samples t test, Mann-Whitney test, and paired t tests were used for statistical analyses (P < 0.05). Group 2 had statistically significant reduction in the angle between the levator plane and Frankfort horizontal as well as the soft palate plane. Group 1 had a statistically significant increase in the pharyngeal depth and movement of the inferior pharyngeal point with respect to the horizontal plane. A decrease in the angle between the levator plane and the Frankfort horizontal or the soft palate plane was associated with velopharyngeal function deterioration.

  8. Comparative study on conjoint fascial sheath suspension and levator muscle resection for moderate or severe congenital ptosis

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    Wei Lin

    2016-06-01

    Full Text Available AIM:To compare the curative effect of conjoint fascial sheath(CSFsuspension and levator muscle resection for moderate or severe congenital ptosis. METHODS: Forty-three patients(74 eyeswith moderate or severe ptosis were treated by CSF suspension or levator muscle resection randomly, and followed up for 6mo. The normalization rates of the two operations were then compared by statistical method, and the complications of the two operations were analyzed.RESULTS: The two operations appeared no significant difference on the normalization rate for moderate congenital ptosis(P>0.05, while the normalization rate of CSF suspension on severe congenital ptosis was significantly higher than that of levator muscle resection(PCONCLUSION: CSF suspension is more effective on the treatment of severe congenital ptosis than levator muscle resection, and has advantages such as less trauma, repeatable, and less complication.

  9. Comparative study on conjoint fascial sheath suspension and levator muscle resection for moderate or severe congenital ptosis

    OpenAIRE

    Wei Lin; Yang Xu; Fei-Lun Ye

    2016-01-01

    AIM:To compare the curative effect of conjoint fascial sheath(CSF)suspension and levator muscle resection for moderate or severe congenital ptosis. METHODS: Forty-three patients(74 eyes)with moderate or severe ptosis were treated by CSF suspension or levator muscle resection randomly, and followed up for 6mo. The normalization rates of the two operations were then compared by statistical method, and the complications of the two operations were analyzed.RESULTS: The two operations appeared no ...

  10. Cosmetic outcome of three sutures levator aponeurosis tuck procedure in congenital ptosis

    International Nuclear Information System (INIS)

    Hussain, I.

    2006-01-01

    To determine the results of three sutures aponeurosis tuck procedure in patients with congenital ptosis. Twenty-four eyes of 20 patients (13 males and 7 females) with congenital ptosis were included in the study. All these lids had either good or fair levator function. Amount of ptosis in all lids were measured before surgery and their mean calculated. Single surgeon performed the three sutures levator aponeurosis tuck procedure on all these lids. Degree of ptosis, after surgery was measured on multiple occasions and mean of measures of last follow-up was calculated. At this stage, the patients' satisfaction level was also documented. Mean amount of ptosis was 3.25 +- 0.99 mm before surgery and 0.33 +- 0.56 mm after surgery (p < 0.0001). Satisfaction level of 18 (90%) patients was 70-90%, while in 2 (10%) patients it was 50-60%. (author)

  11. Management of Klippel-Trenauny syndrome with multiple organ involvement

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    Nassiri Javad

    2007-01-01

    Full Text Available Klippel-Trenauny syndrome is a disturbance in the development of the mesodermal and ectodermal tissues occurring in utero, which is characterized by vascular nevi, varicose veins, soft tissue, and occasionally, bone hyperplasia. Our patient is a 6-year-old boy with presentation of left lower extremity over growth, abdominal mass, abdominal pain, bilateral buttock mass, rectal bleeding, and skin hemangiomatosis. The major problems of this case were involvement of the levator ani, external anal sphincter, and encasement of the sciatic nerves within the buttock mass. We concluded that the use of muscle and nerve stimulator for detection and saving sphincters and the nerves in these cases could improve the results of surgical resection.

  12. Repair of a submucous cleft palate by W-pushback and levator repositioning without incision to the nasal mucosa.

    Science.gov (United States)

    Hwang, Kun

    2012-03-01

    The author created an innovative method of W-pushback and levator repositioning without having to make an incision to the nasal mucosa for submucous cleft palate repair.The W-shaped mucoperiosteal flap is outlined where the 2 peaks of W are the alveolar processes of both canine teeth and the midpoint of W is the anterior limit of the cleft notch of the hard palate. A short incision, medial to and behind the maxillary tuberosity and curved forward onto the palate and extended forward just medial to the alveolar process, is joined by a second incision from the apex of the cleft to the region of the canine tooth. The W-shaped mucoperiosteal flap is raised until the midline notch of the hard palate is exposed. The nasal mucosa and abnormally inserted levator veli palatini muscle to the posterior border of the hard palate bone are detached. By leaving the nasal mucosa intact, the detached levator veli palatini muscle is approximated at the midline and so the zona pellucida is obliterated. The cleft uvulas are cut in half and closed. The approximated W-flap is joined to the small anterior flap by 1 or more sutures (the W-pushback).Three patients were operated on with this technique without serious complications.The author believes that this method can make the levator sling and increase the length of the soft palate without making an incision to the nasal mucosa.

  13. Disgust, but not anger provocation, enhances levator labii superioris activity during exposure to moral transgressions.

    Science.gov (United States)

    Whitton, Alexis E; Henry, Julie D; Rendell, Peter G; Grisham, Jessica R

    2014-02-01

    Physical disgust is elicited by, and amplifies responses to, moral transgressions, suggesting that moral disgust may be a biologically expanded form of physical disgust. However, there is limited research comparing the effects of physical disgust to that of other emotions like anger, making it difficult to determine if the link between disgust and morality is unique. The current research evaluated the specificity of the relationship between disgust and morality by comparing links with anger, using state, physiological and trait measures of emotionality. Participants (N=90) were randomly allocated to have disgust, anger or no emotion induced. Responses to images depicting moral, negative non-moral, and neutral themes were then recorded using facial electromyography. Inducing disgust, but not anger, increased psychophysiological responses to moral themes. Trait disgust, but not trait anger, correlated with levator labii responses to moral themes. These findings provide strong evidence of a unique link between physical disgust and morality. Copyright © 2013 Elsevier B.V. All rights reserved.

  14. Ultrasound elastography-based assessment of the elasticity of the supraspinatus muscle in impingement syndrome: does elastography has any diagnostic value?

    Science.gov (United States)

    Demirel, Adnan; Baykara, Murat; Koca, Tuba Tülay; Berk, Ejder

    2018-06-01

    Ultrasound elastography (UE) is a new ultrasound-based imaging technique that provides information about elasticity and stiffness of tissues. This cross-sectional study aimed to identify the diagnostic importance of UE in supraspinatus impingement syndrome. Forty-one subjects, aged 38-70 years, were included in the study. UE was used to determine the elasticity of the supraspinatus muscle. The strain ratio was calculated as the evaluation criteria to measure the elasticity of the muscle. High strain ratio indicated low elasticity. The measurements were made by the blinded radiologist while the patients sat with their shoulder in a neutral position. The diagnostic value of the strain ratio was evaluated using the receiver operating characteristic (ROC) analysis. The mean strain value of the supraspinatus muscle on the intact and pathological shoulders determined by UE was 0.74 ± 0.33 and 0.31 ± 0.24, respectively. A low strain ratio value in the supraspinatus muscle on the side with impingement syndrome was measured. When the test variable was evaluated as "strain ratio" according to ROC curve analysis, it was found to be above the reference line [0.849 (> 0.5)] (P = 0.00). When the cutoff value was selected as 0.495, the sensitivity and specificity were found to be 75.6 and 78% (the strain ratio value > 0.495), respectively. Measurement of strain ratio with UE can be used as a noninvasive, inexpensive, and practical diagnostic test for the shoulder impingement disease.

  15. Evaluating Z Scores to Quantify Levator Hiatal Distensibility by 3-Dimensional Ultrasonography in Nulliparas and Women With Pelvic Organ Prolapse.

    Science.gov (United States)

    Wen, Lieming; Liu, Minghui; Zhao, Baihua; Qing, Zhenzhen

    2018-03-12

    To use Z scores to quantify hiatal distensibility and to test the performance of Z scores for levator hiatal areas in predicting substantial pelvic organ prolapse (POP). We undertook a retrospective study of the data from 145 nulliparas and 166 patients with POP who had a clinical POP examination with 3-dimensional translabial ultrasonography. Z scores were used to normalize levator hiatal areas of nulliparas. The Z score model for the hiatal area was built by the formula Z score = (measured value - predicted mean value)/predicted standard deviation and was used to evaluate hiatal ballooning in women with POP. Valid data were gathered from 134 nulliparas and 159 patients with POP. POP stage 1 was found in 46 women, stage 2 in 62, stage 3 in 43, and stage 4 in 8. We built the Z score model as follows: Z-Av = (measured value - 17.15)/3.11, where Av represented the minimal levator hiatal area on the maximum Valsalva maneuver. The levator hiatal area was strongly related to the POP stage (P < .001). On a receiver operating characteristic curve analysis, the cutoff of Z-Av was 1 for POP stage 2 or higher (sensitivity, 77%; specificity, 60%) and substantial POP on ultrasonography (sensitivity, 84%; specificity, 75%). Hiatal distensibility can be exactly evaluated by Z-Av. A Z-Av value of less than 1.0 was defined as a "normal hiatal expansion," 1 to 3 as "mild ballooning," 3 to 5 as "moderate ballooning," 5 to 7 as "marked ballooning," and 7 or greater as "severe ballooning." © 2018 by the American Institute of Ultrasound in Medicine.

  16. [Treatment of eyelid retraction in Grave's disease by recession of the levator complex].

    Science.gov (United States)

    Fichter, N; Schittkowski, M; Guthoff, R F

    2004-11-01

    The chronic stage in Grave's orbitopathy is characterised by fibrotic changes within the orbital soft tissues, especially the extraocular muscles. Retraction of the eyelids is a common clinical feature of this phenomenon. To solve this problem several techniques for lengthening the upper eyelid have been described with variable rates of success. In this report we describe our modified Harvey's technique for the correction of upper eyelid retraction which includes a complete recession of the Muller's muscle/levator complex from the tarsal plate without the interposition of a spacer. Finally only the skin and the superficial orbicularis muscle are sutured. We also report about our results with this procedure. 8 patients (1 male, 7 female) with lid retraction in Grave's ophthalmopathy were recorded who had undergone the modified lengthening technique by an external approach between 2001 and 2004. Four patients underwent a bilateral procedure and 1 patient showed a significant under-correction, necessitating reoperation. So a total of 13 procedures were included in this follow-up study. Beside the common ophthalmological examination, special interest was put in the difference of the two eyelid apertures in primary position pre- and postoperatively. Within a follow-up period of at least 3 months we recorded an averaged lengthening of the upper eyelid of 3.1 mm. The difference of the two eyelid apertures in primary position improved from 2.2 mm preoperatively to 1.0 mm postoperatively. Only 1 patient needed reoperation because of a significant under-correction. There were no late over-corrections observed. The modified Harvey's technique to lengthen the upper eyelid is a safe and effective method to reduce upper eyelid retraction in Grave's disease. An eventually required orbital decompression or extraocular muscle surgery has to be done before the lid surgery.

  17. A pilot randomized trial of levator injections versus physical therapy for treatment of pelvic floor myalgia and sexual pain.

    Science.gov (United States)

    Zoorob, Dani; South, Mary; Karram, Mickey; Sroga, Julie; Maxwell, Rose; Shah, Aparna; Whiteside, James

    2015-06-01

    Our aim was to determine the effects of pelvic floor physical therapy (PT) and levator-directed trigger-point injections (LTPI) on sexual function and levator-related pelvic pain. A randomized trial among women with pelvic floor myalgia (PFM) was performed wherein participants received either PT or LTPI. Pain was assessed and 1 month posttreatment completion. Levator-based pain was assessed using a numeric rating scale (NRS) and the Patient Global Impression of Improvement (PGI-I) scale. Sexual function was assessed using the Female Sexual Function Index (FSFI). Twenty-nine women completed the study (17 had PT, 12 had LTPI). Both groups reported reduction in vaginal pain: mean NRS change from baseline of 4.47 [standard deviation (SD) 2.12) for PT and 4.67 (SD 1.72) for LTPI (p = 0.8)]. A >50 % improvement in NRS was documented among 59 % of women receiving PT and 58 % receiving LTPI (p = 1.0). Consistent with NRS scores, mean PGI-I score was 2.50 (SD 1.17) for PT and 2.17 (SD 1.01) for LTPI (p = 0.5). Mean change in FSFI favored PT [PT +8.87 (SD 5.60), LTPI +4.00 (SD 5.24), p = 0.04], reflecting improvement in the sexual pain domain favoring PT (p = 0.02). However, the time in weeks to effect improvement favored LTPI if controlling for the degree of change in NRS (p = 0.01) and FSFI (p = 0.01). Vaginal myalgia and sex-related pain improved with pelvic floor PT and LTPI. Time-to-effect improvement and significance of therapy are dependent on treatment type.

  18. MR-defecography in obstructed defecation syndrome (ODS): technique, diagnostic criteria and grading.

    Science.gov (United States)

    Piloni, V; Tosi, P; Vernelli, M

    2013-10-01

    The aim of this study was to evaluate the use of a magnetic resonance (MR)-based classification system of obstructive defecation syndrome (ODS) to guide physicians in patient management. The medical records and imaging series of 105 consecutive patients (90 female, 15 male, aged 21-78 years, mean age 46.1 ± 5.1 years) referred to our center between April 2011 and January 2012 for symptoms of ODS were retrospectively examined. After history taking and a complete clinical examination, patients underwent MR imaging according to a standard protocol using a 0.35 T permanent field, horizontally oriented open-configuration magnet. Static and dynamic MR-defecography was performed using recognized parameters and well-established diagnostic criteria. Sixty-seven out of 105 (64 %) patients found the prone position more comfortable for the evacuation of rectal contrast while 10/105 (9.5 %) were unable to empty their rectum despite repeated attempts. Increased hiatus size, anterior rectocele and focal or extensive defects of the levator ani muscle were the most frequent abnormalities (67.6, 60.0 and 51.4 %, respectively). An MR-based classification was developed based on the combinations of abnormalities found: Grade 1 = functional abnormality, including paradoxical contraction of the puborectalis muscle, without anatomical defect affecting the musculo-fascial structures; Grade 2 = functional defect associated with a minor anatomical defect such as rectocele ≤ 2 cm in size and/or first-degree intussusception; Grade 3 = severe defects confined to the posterior anatomical compartment, including >2 cm rectocele, second- or higher-degree intussusception, full-thickness external rectal prolapse, poor mesorectal posterior fixation, rectal descent >5 cm, levator ani muscle rupture, ballooning of the levator hiatus and focal detachment of the endopelvic fascia; Grade 4 = combined defects of two or three pelvic floor compartments, including cystocele, hysterocele, enlarged urogenital

  19. Surgical anatomy and histology of the levator palpebrae superioris muscle for blepharoptosis correction

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    Đorđević Boban

    2013-01-01

    Full Text Available Background/Aim. The detailed knowledge of the architecture of the upper eyelid is very important in numerous upper eyelid corrective surgeries. The article deals with the detailed anatomy of the major components of the upper lid, which are commonly seen in surgical practice. Methods. This study was conducted on 19 human cadavers (12 adults and 7 infants without pathologic changes in the orbital region and eyelids. Anatomic microdissection of the contents of the orbita was performed bilaterally on 12 orbits from 6 unfixed cadavers (3 male and 3 female. Micromorphologic investigations of the orbital tissue were performed on 8 en bloc excised and formalin-fixed orbits of infant cadavers. Specimens were fixed according to the Duvernoy method. An intra-arterial injection of 5% mixture of melt formalin and black ink was administered into the carotid arterial system. Using routine fixation, decalcination, dehydration, illumination, impregnation and molding procedures in paraplast, specimens were prepared for cross-sections. Results. The measurement of the muscle length and diameter in situ in 6 nonfixed cadavers (12 orbits showed an average length of the levator palpbrae superioris (LPS muscle body of the 42.0 ± 1.41 mm on the right, and 40.3 ± 1.63 mm on the left side. In all the cases, the LPS had blood supply from 4 different arterial systems: the lacrimal, supratrochlear, and supraorbital artery and muscle branches of the ophthalmic artery. The LPS muscle in all the specimens was supplied by the superior medial branch of the oculomotor nerve. The connective tissue associated with the LPS muscle contains two transverse ligaments: the superior (Whitnall’s and intermuscular transverse ligaments (ITL. The orbital septum in all the specimens originated from the arcus marginalis of the frontal bone, and consisted of two layers - the superficial and the inner layer. In addition, a detailed histological analysis revealed that the upper eyelid

  20. Surgical anatomy and histology of the levator palpebrae superioris muscle for blepharoptosis correction.

    Science.gov (United States)

    Djordjević, Boban; Novaković, Marijan; Milisavljević, Milan; Milićević, Sasa; Maliković, Aleksandar

    2013-12-01

    The detailed knowledge of the architecture of the upper eyelid is very important in numerous upper eyelid corrective surgeries. The article deals with the detailed anatomy of the major components of the upper lid, which are commonly seen in surgical practice. This study was conducted on 19 human cadavers (12 adults and 7 infants) without pathologic changes in the orbital region and eyelids. Anatomic microdissection of the contents of the orbita was performed bilaterally on 12 orbits from 6 unfixed cadavers (3 male and 3 female). Micromorphologic investigations of the orbital tissue were performed on 8 en bloc excised and formalin-fixed orbits of infant cadavers. Specimens were fixed according to the Duvernoy method. An intra-arterial injection of 5% mixture of melt formalin and black ink was administered into the carotid arterial system. Using routine fixation, decalcination, dehydration, illumination, impregnation and molding procedures in paraplast, specimens were prepared for cross-sections. The measurement of the muscle length and diameter in situ in 6 nonfixed cadavers (12 orbits) showed an average length of the levator palpbrae superioris (LPS) muscle body of the 42.0 +/- 1.41 mm on the right, and 40.3 +/- 1.63 mm on the left side. In all the cases, the LPS had blood supply from 4 different arterial systems: the lacrimal, supratrochlear, and supraorbital artery and muscle branches of the ophthalmic artery. The LPS muscle in all the specimens was supplied by the superior medial branch of the oculomotor nerve. The connective tissue associated with the LPS muscle contains two transverse ligaments: the superior (Whitnall's) and intermuscular transverse ligaments (ITL). The orbital septum in all the specimens originated from the arcus marginalis of the frontal bone, and consisted of two layers--the superficial and the inner layer. In addition, a detailed histological analysis revealed that the upper eyelid's crease was formed by the conjoined fascia including the

  1. The Effect of Commonly Performed Exercises on the Levator Hiatus Area and the Length and Strength of Pelvic Floor Muscles in Postpartum Women.

    Science.gov (United States)

    Siff, Lauren N; Hill, Audra J; Walters, Samantha J; Walters, Ginny; Walters, Mark D

    2018-05-02

    The aim oft his study was to compare the effects of 10 common exercises to traditional pelvic floor muscle (PFM) contractions (Kegel) on levator hiatus (LH) area and PFM length and strength. This is a cross-sectional study of 15 healthy postpartum women. Ten exercises were studied. These were common variations of leg, core, and back exercises used in yoga, Pilates, strength training, and physical therapy. Each participant performed all 10 exercises at a single visit in 2 examination settings: transperineal ultrasound and perineometry. Ultrasound measured the LH area and PFM length, and perineometry measured the muscle strength (peak squeeze pressure). Kegel generates an increase in squeeze pressure (24.3 cm H2O), shortens the muscles (-0.46 cm) and narrows the LH (-0.13 cm). The bird-dog and plank exercises were not different from Kegel in any measurement. While the leg-lift ultrasound dimensions are similar to Kegel, leg lifts generated peak squeeze pressures stronger than any other exercise (including Kegel). Whereas ultrasound dimensions were similar to Kegel, tucked and untucked squats and thigh adductions generated weaker contractions than Kegel. While crunch generated a squeeze pressure similar to Kegel, the ultrasound dimensions showed a significantly wider LH and longer muscle than Kegel. Bridge, clam, and plié exercises affected the PFMs differently than Kegel in all measures. Bird-dog, plank, and leg-lift exercises should be evaluated as alternative exercises to Kegel as they affect PFM strength and length and LH area similarly to Kegel, and leg lifts generate a stronger contraction than Kegel.

  2. A cross-sectional study to assess any possible linkage of C/T polymorphism in CYP17A1 gene with insulin resistance in non-obese women with polycystic ovarian syndrome

    Directory of Open Access Journals (Sweden)

    Ushasi Banerjee

    2016-01-01

    Full Text Available Background & objectives: Insulin resistance (IR is a major confounding factor in polycystic ovarian syndrome (PCOS irrespective of obesity. Its exact mechanism remains elusive till now. C/T polymorphism in the -34 promoter region of the CYP17 gene is inconsistently attributed to elucidate the mechanism of IR and its link to hyperandrogenemia in obese PCOS patients. In the present study we aimed to evaluate any association of this polymorphism with IR in non-obese women with PCOS. Methods: Polymorphism study was performed by restriction fragment length polymorphism (RFLP analysis of the Msp A1 digest of the PCR product of the target gene in 75 PCOS cases against 73 age and BMI matched control women. Serum testosterone, BMI and HOMA-IR (homeostatic model of assessment-insulin resistance were analyzed by standard techniques. A realistic cut-off value for the HOMA-IR was obtained through receiver operating characteristic (ROC curve for exploring any possible link between IR and T/C polymorphism in the case group. Results: Significant increases in serum testosterone and HOMA-IR values were observed among the case group (P<0.001 without any significant elevation in BMI and FBG compared to controls. Cut-off value for IR in the PCOS patients was 1.40 against a maximum sensitivity of 0.83 and a minimum false positivity of 0.13. The analysis revealed an inconclusive link between the C/T polymorphic distribution and insulin resistant case subjects. Interpretation & conclusions: The results showed that CYP17A1 gene was not conclusively linked to either IR or its associated increased androgen secretion in non-obese women with PCOS. We propose that an increased sensitivity of insulin on the ovarian cells may be the predominant reason for the clinical effects and symptoms of androgen excess observed in non-obese PCOS patients in our region.

  3. What Is Usher Syndrome?

    Science.gov (United States)

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

  4. The Role at Rehabilitation in Treatment of Thoracic Outlet Syndrome

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    Mohammad Ali Hosseinian

    2003-01-01

    Full Text Available Objective: Thoracic outlet syndrome is a complex disorder caused by neurovascular irritation in the region of the thoracic outlet. The syndrome have been said to be mainly due to anomalous structures in the thoracic outlet, treatment for thoracic outlet syndrome varies among different institutions, and there has not been any standard program. In general conservative and surgical treatment can be do if necessary. Materials & Methods: The rehabilitation program consists of exercise and physiotherapy and brace designed to hold the posture in which thoracic outlet is enlarged. Exercise program was designed simple enough to be performed in the daily living or during work after minimal training and isometric exercises of Serratus anterior, Levator Scapulae and Erector Spinae muscles to be performed in one posture: flexion and elevation of scapular girdle and correction position of upper-thoracic spine. During 7 years, 131 cases of (T.O.S. were evaluated that 26 cases (20% have operated and 84 cases (64% have treated with conservative treatment and 21 cases (16% have been candidate for surgery but they didn't accepted. Results: All of the cases have treated with conservative treatment for four months. 84 cases responded well and no further treatment was needed. 47 cases were not satisfied with. The outcome of their treatment, that 26 cases have operated and 21 cases have not accepted the operation and continued the conservative treatment, they have had pain and slightly disability. 23 cases of operated group responded well and they have resumed to work, one case has had neuropraxia for about one year. Conclusion: Most cases of thoracic outlet syndrome (T.O.S. can be treated conservatively. Surgically treatment is indicated only in cases severe enough to make them disable to work. It is better all the patients undergo conservative treatment for at least four months then will decided for surgical treatment.

  5. A ringed fascia lata graft without peritendinous areolar tissue encircling the levator veli palatini and superior pharyngeal constrictor muscles gradually shrinks to reduce velopharyngeal incompetence, functioning as an intravelar palatal lift.

    Science.gov (United States)

    Fujita, Kenya; Matsuo, Kiyoshi; Yuzuriha, Shunsuke

    2013-01-01

    We have previously reported that fascia lata grafts with peritendinous areolar tissue used to treat severe congenital blepharoptosis gradually shrink within 6 weeks postoperatively and maintain long-term shrinkage of 15.5% on average. Accordingly, it seemed possible that a fascia lata graft without peritendinous areolar tissue would shrink more than the one with peritendinous areolar tissue in a clinical setting. We evaluated this possibility in a patient with Klippel-Feil syndrome having postoperative deep atonic nasopharynx. In combination with intravelar veloplasty and palatal lengthening with modified bilateral buccinator sandwich pushback, a ringed fascia lata without peritendinous areolar tissue encircling the levator veli palatini and superior constrictor muscles was grafted to cure severe velopharyngeal incompetence. Obstructive sleep apnea did not occur following surgery. Pharyngoscopy, videofluoroscopy, and nasometry showed no amelioration of velopharyngeal incompetence at 1 month postoperatively, but marked velopharyngeal incompetence reduction was evident at 4 months and 2 years after surgery. The extended recovery period suggests that the anticipated postoperative shrinkage of the ringed fascia lata without peritendinous areolar tissue played a more prominent role than intravelar veloplasty and palatal lengthening, which posteroinferiorly elongated the atonic soft palate. Although the pharyngeal flap procedure is the most popular technique for treatment of velopharyngeal incompetence, it is sometimes accompanied by respiratory complications. Thus, the gradual postoperative shrinkage of a ringed fascia lata graft encircling the velopharyngeal muscles functions as an intravelar palatal lift and may be an additional surgical method with less respiratory complications to narrow atonic nasopharyngeal port.

  6. A study to evaluate the effect of manual therapy and exercise on the levator plate in women with pelvic organ prolapse.

    OpenAIRE

    Whelan, Maeve

    2013-01-01

    Introduction Pelvic organ prolapse (POP) symptoms, severity and pelvic floor muscle (PFM) strength have been shown to improve significantly with pelvic floor muscle training (PFMT). In this study, a new approach to conservative treatment of POP was investigated by the addition of manual physiotherapy to conventional PFMT. Aim & Objectives The aim of this study was to investigate the effect of internal manual therapy and PFMT on the levator plate angle (LPA) in women with stage I or I...

  7. ANMS-ESNM position paper and consensus guidelines on biofeedback therapy for anorectal disorders

    NARCIS (Netherlands)

    Rao, S. S. C.; Benninga, M. A.; Bharucha, A. E.; Chiarioni, G.; Di Lorenzo, C.; Whitehead, W. E.

    2015-01-01

    Anorectal disorders such as dyssynergic defecation, fecal incontinence, levator ani syndrome, and solitary rectal ulcer syndrome are common, and affect both the adult and pediatric populations. Although they are treated with several treatment approaches, over the last two decades, biofeedback

  8. Outcomes of vaginal hysterectomy and constricting colporrhaphy with concurrent levator myorrhaphy and high perineorrhaphy in women older than 75 years of age

    Directory of Open Access Journals (Sweden)

    Töz E

    2015-06-01

    Full Text Available Emrah Töz, Aykut Özcan, Nesin Apaydin, İbrahim Uyar, Betül Kocakaya, Gülin Okay Department of Gynecology and Obstetrics, Tepecik Education and Research Hospital, İzmir, Turkey Objectives: We performed constricting anterior and posterior colporrhaphy, levator myorrhaphy, and high perineorrhaphy with concurrent hysterectomy, and investigated the intraoperative complications, and short-term outcomes of these constricting procedures in patients aged 75 years or older.Methods: We searched our hospital database for cases, between January 2011 and January 2014, of women aged over 75 years who underwent surgery for pelvic organ prolapse of stage 2 or higher, via vaginal hysterectomy, constricting anterior and posterior colporrhaphy, levator myorrhaphy, and high perineorrhaphy, with or without treatment of urinary incontinence. All volunteers were evaluated via pelvic examination using the pelvic organ prolapse quantification system, the modified Decision Regret Scale–Pelvic Floor Disorders form, the Satisfaction Decision Scale–Pelvic Floor Disorders form, and the Pelvic Floor Distress Inventory form.Results: Fifty-four patients were included in the study. The mean follow-up time was 24.4 months after constricting surgery (range: 8–44 months. There were four cases (7% of de novo urge incontinence (the symptoms resolved upon prescription of anticholinergic medication. Two patients developed de novo stress urinary incontinence after the procedure and were treated via transobturator sling surgery using Safyre T® polypropylene monofilament slings. No anatomical or subjective recurrence of prolapse was noted during the follow-up period. No patient required additional surgery for recurrence of prolapse.Conclusion: Constricting anterior and posterior colporrhaphy, levator myorrhaphy, and high perineorrhaphy with concurrent hysterectomy is a feasible, safe, and effective surgical option in elderly patients at low anesthesiological risk. The decision

  9. Musculo-nasomucosal unit with complete lateral bony freeing and medial rotation for ideal C-shape restoration and retropositioning of the levator veli palatini.

    Science.gov (United States)

    El-Shazly, Mohamed

    2012-11-01

    No definitive procedure for cleft repair has been identified yet as the gold standard. Accordingly, this work tried to appraise the hypothesis that if the bony detachment and full retropositioning of the levator veli palatini muscle can ideally present an anatomical C-shape muscular sling restoration and if this is accompanied with pushback palatoplasty, would this present a better result in terms of tissue fistulation and phonetic impairment? A series of 74 different degrees of palatal clefts were operated by pushback palatoplasty combined with a modified approach of the levator vili palatini. This muscle was dissected only from the oral mucosa while kept attached to the nasal one as a musculo-nasomucosal unit. This unit was completely detached from the bony margin of the hard palate and then medially rotated and retropositioned in a typical C-shape mobile sling. Evaluations included suture line assessment and fistula development, and following the child's need for speech therapy. There were no intraoperative complications. Definite anterior fistulae with nasal air and foot leakage were observed in 2 cases. Four cases had postoperative velopharyngeal incompetence with a need for speech therapy. Tension-free closure, lower risk of fistula, good restoration of velopharyngeal functions, ability to be performed on all cleft types, ability to provide a good intraoperative exposure, and being a single stage seem to be the most important advantages of this unpublished technique.

  10. 'One sip won't do any harm . . .': temptation among women with inflammatory bowel disease/irritable bowel syndrome to engage in negative dietary behaviours, despite the consequences to their health.

    Science.gov (United States)

    Schneider, Margaret A; Jamieson, Anne; Fletcher, Paula C

    2009-04-01

    The purpose of this research was to explore the dietary lived experiences of university-aged women suffering from inflammatory bowel disease (IBD) and irritable bowel syndrome (IBS). This paper will address the decision-making process used by these women when contemplating the consumption of dietary temptations, despite the associated negative consequences. This phenomenological study was guided by heuristic inquiry. A purposive sample of eight women, between the ages of 18 and 23 years, who were living with IBD or IBS were recruited via postings and word-of-mouth. The findings indicate that these women occasionally felt compelled to give into dietary temptations, despite the consequences to their health. The decision-making process they used when considering these negative health behaviours involved three personally controlled parameters. These three parameters included: assessing the cost-benefit relationship before engaging in these behaviours; having a physical and/or psychological reliance on medications to treat resulting symptoms; and through controlling the timing and surroundings in which they indulged in these negative dietary behaviours. The practical implications for health-care professionals treating patients with IBD or IBS are discussed.

  11. Fahr's Syndrome

    Science.gov (United States)

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

  12. Estudo anatômico do músculo levantador do lábio superior An anatomical study of the levator labii superioris muscle

    Directory of Open Access Journals (Sweden)

    L.M. Ferreira

    1997-09-01

    Full Text Available Os autores descrevem as características anatômicas do músculo levantador do lábio superior por meio de dissecações em cadáveres. OBJETIVO. Contribuir ao estudo dos músculos da mímica, estudando os seus detalhes anatômicos e suas relações, ajudando na realização de retalhos da face. MÉTODOS. Foram dissecadas 20 peças de cadáveres, verificando-se suas inserções, comprimento, largura, espessura, relações, inervação e irrigação. RESULTADOS. Em todos os casos, o músculo levantador do lábio superior apresentou inserção proximal na margem inferior da órbita e inserção distal de dois tipos: por meio de fibras laterais sobrepondo-se superficialmente ao músculo orbicular do lábio e de fibras profundas interdigitando-se, formando parte do embricamento do canto da boca (70%; e mediante fibras sobrepondo-se superficialmente ao músculo orbicular do lábio (30%. A média do comprimento foi de 24,66mm e a média da espessura, de 3,57mm. A largura em nível da inserção distal foi, em média, de 11,2mm, enquanto que em nível da inserção proximal foi, em média, de 15,96mm. Relaciona-se anteriormente ao músculo levantador do ângulo da boca, posteriormente à porção distal do músculo zigomático menor (90% e posteriormente à porção média do músculo zigomático menor (10%. A inervação é feita pelo ramo inferior do nervo zigomático (n. facial e nervo infra-orbital (n. trigêmeo. Ramos da artéria angular irrigam a porção inferior do músculo e a artéria infra-orbital nutre a porção superior deste músculo.The authors describe the anatomical characteristics of the levator labii superioris muscle by dissection in cadavers. PURPOSE. We describe the characteristics of these muscle, the details and relations, hopefully contributing to the study of muscle of the face. METHODS. Twenty faces of cadavers were dissected. The following features were studied: origin, insertion, length, width, thickness, relations

  13. The value of posterior levator repair in the treatment of anorectal incontinence due to rectal prolapse--a clinical and manometric study.

    Science.gov (United States)

    Köhler, A; Athanasiadis, S

    2001-04-01

    When treating a complete rectal prolapse, the most important objective is elimination of the prolapse. In addition, restoration of sufficient anorectal continence is extremely important for the patients. We examined the value of posterior levator repair with respect to stabilization of the pelvic floor and to improvement in anorectal incontinence. In patients with disabling anorectal incontinence, a posterior levatorplasty can be concomitantly performed during operative removal of the prolapse. To facilitate evaluation of the operative results, we implemented a scoring system to judge the patients' subjective symptoms of incontinence; in addition, we performed manometric measurements of resting and squeezing pressures of the anal sphincter to objectify the anorectal incontinence. From 1991 to 1997, 84 patients (mean age 65+/-10 years, 38-91 years; 79 women, 5 men) with complete rectal prolapse and severe incontinence were operatively treated; corresponding follow-ups were done. The following procedures were performed: Frykmann-Goldberg, 28 patients; Wells, 18 patients; Ripstein, 22 patients; and perineal proctectomy, 16 patients. Incontinence for liquid and solid stools was present in all of these patients. Posterior levatorplasty was implemented in 38 patients, and in this group we found significantly better postoperative results, both clinically and in the manometric measurements. Continence was improved by 84% in the group with levatorplasty, but improvement was only 67% in the other group (Pdisadvantages. For this reason, levatorplasty can be part of operative procedures implemented in the treatment of a complete rectal prolapse accompanied by disabling anorectal incontinence.

  14. [The Capgras syndrome].

    Science.gov (United States)

    Anikina, M A; Levin, O S

    2013-01-01

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

  15. Sjogren's Syndrome: Can It Cause Recurrent UTIs?

    Science.gov (United States)

    ... Sjogren's syndrome last year, I've had three urinary tract infections. Is there any evidence that Sjogren's syndrome causes ... cause symptoms that you might mistake for a urinary tract infection (UTI). Sjogren's syndrome is an autoimmune disorder in ...

  16. Rett Syndrome

    Science.gov (United States)

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

  17. 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.

  18. Marfan Syndrome

    Science.gov (United States)

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

  19. Serotonin syndrome

    Science.gov (United States)

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

  20. A Method to Estimate the Probability That Any Individual Lightning Stroke Contacted the Surface Within Any Radius of Any Point

    Science.gov (United States)

    Huddleston, Lisa L.; Roeder, William; Merceret, Francis J.

    2010-01-01

    A technique has been developed to calculate the probability that any nearby lightning stroke is within any radius of any point of interest. In practice, this provides the probability that a nearby lightning stroke was within a key distance of a facility, rather than the error ellipses centered on the stroke. This process takes the current bivariate Gaussian distribution of probability density provided by the current lightning location error ellipse for the most likely location of a lightning stroke and integrates it to get the probability that the stroke is inside any specified radius. This new facility-centric technique will be much more useful to the space launch customers and may supersede the lightning error ellipse approach discussed in [5], [6].

  1. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci

    2010-10-01

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

  2. Beals Syndrome

    Science.gov (United States)

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

  3. Is Multiparty Computation Any Good In Practice?

    DEFF Research Database (Denmark)

    Orlandi, Claudio

    2011-01-01

    a cryptographic protocol to perform the computation in a way that 1) the output is correct and 2) cheating parties will not be able to learn any information about the honest parties inputs. Even though this problem has been formulated and essentially solved almost 30 years ago, practical solutions that can...

  4. Higher spin gauge theories in any dimension

    International Nuclear Information System (INIS)

    Vasiliev, M.A.

    2004-01-01

    Some general properties of higher spin (HS) gauge theories are summarized, with the emphasize on the nonlinear theories in any dimension. The main conclusion is that nonlinear HS theories exist in any dimension. Note that HS gauge symmetries in the nonlinear HS theory differ from the Yang-Mills gauging of the global HS symmetry of a free theory one starts with by HS field strength dependent nonlinear corrections resulting from the partial gauge fixing of spontaneously broken HS symmetries in the extended non-commutative space. The HS geometry is that of the fuzzy hyperboloid in the auxiliary (fiber) non-commutative space. Its radius depends on the Weyl 0-forms which take values in the infinitive-dimensional module dual to the space of single-particle states in the system

  5. A Hardware Lab Anywhere At Any Time

    Directory of Open Access Journals (Sweden)

    Tobias Schubert

    2004-12-01

    Full Text Available Scientific technical courses are an important component in any student's education. These courses are usually characterised by the fact that the students execute experiments in special laboratories. This leads to extremely high costs and a reduction in the maximum number of possible participants. From this traditional point of view, it doesn't seem possible to realise the concepts of a Virtual University in the context of sophisticated technical courses since the students must be "on the spot". In this paper we introduce the so-called Mobile Hardware Lab which makes student participation possible at any time and from any place. This lab nevertheless transfers a feeling of being present in a laboratory. This is accomplished with a special Learning Management System in combination with hardware components which correspond to a fully equipped laboratory workstation that are lent out to the students for the duration of the lab. The experiments are performed and solved at home, then handed in electronically. Judging and marking are also both performed electronically. Since 2003 the Mobile Hardware Lab is now offered in a completely web based form.

  6. Churg Strauss syndrome

    International Nuclear Information System (INIS)

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

    2007-01-01

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

  7. A Journey with Klinefelter Syndrome

    Science.gov (United States)

    Cover, Virginia Isaacs

    2006-01-01

    In this article, the author shares her experience having a son with Klinefelter Syndrome. Klinefelter Syndrome, also known as 47,XXY, is estimated to occur in 1 out of 600 males, making it the most common chromosomal disorder. Babies with Klinefelter Syndrome rarely have any physical differences that are detectable, which is the reason that so few…

  8. Does Industrial Ecology provide any new Perspectives?

    OpenAIRE

    Røine, Kjetil

    2000-01-01

    The research question in this report was, as the title alludes: Does industrial ecology provide any new perspectives? If yes, what are the new aspects? To answer these questions, a literature study has been conducted. The answer to the first question is yes. We claim that what is new about industrial ecology is the expansion of the system borders within which the actors operate. Bearing this in mind, it is proposed that the most important issue in industrial ecology is to unite the two m...

  9. Cushing syndrome

    Science.gov (United States)

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

  10. LEOPARD syndrome

    Science.gov (United States)

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

  11. Fanconi syndrome

    Science.gov (United States)

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

  12. Duane Syndrome

    Science.gov (United States)

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

  13. Economical quantum cloning in any dimension

    International Nuclear Information System (INIS)

    Durt, Thomas; Fiurasek, Jaromir; Cerf, Nicolas J.

    2005-01-01

    The possibility of cloning a d-dimensional quantum system without an ancilla is explored, extending on the economical phase-covariant cloning machine for qubits found in Phys. Rev. A 60, 2764 (1999). We prove the impossibility of constructing an economical version of the optimal universal 1→2 cloning machine in any dimension. We also show, using an ansatz on the generic form of cloning machines, that the d-dimensional 1→2 phase-covariant cloner, which optimally clones all balanced superpositions with arbitrary phases, can be realized economically only in dimension d=2. The used ansatz is supported by numerical evidence up to d=7. An economical phase-covariant cloner can nevertheless be constructed for d>2, albeit with a slightly lower fidelity than that of the optimal cloner requiring an ancilla. Finally, using again an ansatz on cloning machines, we show that an economical version of the 1→2 Fourier-covariant cloner, which optimally clones the computational basis and its Fourier transform, is also possible only in dimension d=2

  14. Position sensor without any mechanical contact

    International Nuclear Information System (INIS)

    Ambier, Jean.

    1976-01-01

    The invention concerns a system for detecting, without any mechanical contact, the position of a mobile element according to a pre-determined path. The sensor includes a primary winding fed by an AC source and a secondary winding inductively coupled with the primary winding and subdivided into elementary coils, spaced out along this path and electrically inter-connected in couples. The mobile element has a magnetic part capable of modifying the inductive coupling between the windings, a secondary coil couple delivering a differential signal of zero values for all positions of the mobile element generating the same inductive coupling of each coil of the couple to the said primary winding. The main patent describes a system making it possible to detect the position of the rods in a nuclear reactor. The need was felt to improved the measuring accuracy of the sensor and to have a rigid front signal for easy electronic processing. The purpose of this invention is to improve the standard sensor to this end and it is characterised by the fact that the primary winding is subdivided into the same number of elementary coils as the secondary winding and that a primary coil is associated to each secondary coil, the two associated coils being coiled one on the other. The saving in space enables the coils to be brought closer together and affords an increase in measurement accuracy. A magnetic screen isolates each pair of coils and channels the leakage flux, the screen sharing in the localisation of the magnetic field under each pair of coils to achieve a sudden variation and a rigid front of the signal during the displacement of the mobile element [fr

  15. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  16. Functional disorders of the anus and rectum

    Science.gov (United States)

    Whitehead, W; Wald, A; Diamant, N; Enck, P; Pemberton, J; Rao, S

    1999-01-01

    In this report the functional anorectal disorders, the etiology of which is currently unknown or related to the abnormal functioning of normally innervated and structurally intact muscles, are discussed. These disorders include functional fecal incontinence, functional anorectal pain, including levator ani syndrome and proctalgia fugax, and pelvic floor dyssynergia. The epidemiology of each disorder is defined and discussed, their pathophysiology is summarized and diagnostic approaches and treatment are suggested. Some suggestions for the direction of future research on these disorders are also given.


Keywords: fecal incontinence; pelvic floor dyssynergia; anismus; proctalgia fugax; levator ani syndrome; constipation; Rome II PMID:10457046

  17. Anal and Rectal Disorders

    Science.gov (United States)

    ... Abscess Anorectal Fistula Foreign Objects in the Rectum Hemorrhoids Levator Syndrome Pilonidal Disease Proctitis Rectal Prolapse The ... cancer Foreign objects in the anus and rectum Hemorrhoids Levator syndrome Pilonidal disease Proctitis Rectal prolapse Diagnosis ...

  18. Foreign Objects in the Rectum

    Science.gov (United States)

    ... Abscess Anorectal Fistula Foreign Objects in the Rectum Hemorrhoids Levator Syndrome Pilonidal Disease Proctitis Rectal Prolapse (See ... Abscess Anorectal Fistula Foreign Objects in the Rectum Hemorrhoids Levator Syndrome Pilonidal Disease Proctitis Rectal Prolapse NOTE: ...

  19. Is there any role of latent toxoplasmosis in schizophrenia disease?

    Science.gov (United States)

    Karabulut, Nuran; Bilgiç, Serkan; Gürok, Mehmet Gürkan; Karaboğa, Fatih

    2015-09-01

    A large number of studies have hypothesized that Toxoplasma gondii is a potentially relevant etiological factor in some cases of schizophrenia. By contrast, some studies have disproved this association. The aim of this study was to investigate whether latent toxoplasmosis has any role in schizophrenia disease. Additionally, the association between T. gondii and subtypes of schizophrenia, and the impacts of toxoplasmosis on psychopathology were examined in the study. A total of 85 patients with schizophrenia and 60 healthy volunteers were included in this prospective study. Immunoglobulin G (IgG) antibody to T. gondii was examined by enzyme-linked immune-sorbent assay method. Seropositivity rates were 43.5% for the patients with schizophrenia and 43.3% for the healthy controls (odds ratio: 1.008, 95% confidence interval: 0.517-1.964, p = 0.981).There was no significant difference in T. gondii IgG positivity between the schizophrenia and control groups with respect to sex and age. The difference in seroprevalence of T. gondii IgG antibodies among the schizophrenia subtypes was not statistically significant (p = 0.934). No significant difference was found in Positive and Negative Syndrome Subscales between Toxoplasma-infected and Toxoplasma-free patients. In the study area with a high prevalence of T. gondii, no association between toxoplasmosis and schizophrenia was detected. These findings showed that toxoplasmosis has no role in the risk of schizophrenia disease. Copyright © 2015. Published by Elsevier Taiwan.

  20. [The exploding head syndrome].

    Science.gov (United States)

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

    1991-04-06

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

  1. Michelin tire baby syndrome

    Directory of Open Access Journals (Sweden)

    Rita V Vora

    2016-01-01

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

  2. Marfan Syndrome

    Science.gov (United States)

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

  3. Aarskog syndrome

    Science.gov (United States)

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

  4. Williams syndrome

    Science.gov (United States)

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

  5. Cushing's Syndrome

    OpenAIRE

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

    2003-01-01

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

  6. Tourette syndrome

    Science.gov (United States)

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

  7. [Refeeding syndrome: practical issues].

    Science.gov (United States)

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

    2015-10-14

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

  8. Bullous Wells’ syndrome

    Directory of Open Access Journals (Sweden)

    Bengu Cevirgen Cemil

    2016-01-01

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

  9. Has the identification of rectal hypersensitivity any implication in the clinical outcome of irritable bowel syndrome? ¿Tiene alguna repercusión clínica la identificación de hipersensibilidad en el síndrome de intestino irritable?

    Directory of Open Access Journals (Sweden)

    S. Izquierdo

    2005-04-01

    Full Text Available Background: sixty percent of patients with irritable bowel disease (IBS are hypersensitive to rectal distension. It is uncertain to what extend the identification of this abnormality has an impact in the clinical outcome. Objective: to evaluate if rectal hypersensitivity is associated with a different clinical outcome, prognosis and use of medical resources. Material and methods: patients with IBS (Rome II criteria who underwent a rectal distension study at least one year before were eligible if they have not been included in any research protocol since then. We reviewed how many times in the last year they came to emergency room, underwent an endoscopy, and consulted a gastroenterologist or other medical physician for any reason. Also, a telephone interview was done by a gastroenterology fellow using a structured questionnaire to evaluate the frequency and severity of their symptoms in the last year and last month. Results: a total of 52 patients were eligible and 38 were included. Forteen were not included because inability to made a phone contact or did not consent to phone interview. Twenty six patients were hypersensitive and 12 normosensitive. Both groups had similar symptoms (frequency and severity but hypersensitive patients visited less to the gastroenterologist (1.2 ± 0.2 vs. 2.9 ± 0.6 times yearly, p Introducción: el 60% de los pacientes con SII tienen hipersensibilidad a la distensión rectal. Se desconoce si la identificación de esta alteración puede modificar su evolución. Objetivo: evaluar si la hipersensibilidad a la distensión rectal se asocia con un diferente pronóstico respecto a la presentación de síntomas y la utilización de recursos sanitarios en pacientes con SII. Material y métodos: se incluyeron pacientes con SII según criterios de Roma II, que habían sido sometidos a un estudio de distensión rectal. Se recogieron datos de los registros informáticos sobre asistencia a consultas especializadas, realizaci

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

    Science.gov (United States)

    Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

    2013-08-01

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

  11. Hepatorenal syndrome

    Science.gov (United States)

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

  12. Reflexive contraction of the levator palpebrae superioris muscle to involuntarily sustain the effective eyelid retraction through the transverse trigeminal proprioceptive nerve on the proximal Mueller's muscle: verification with evoked electromyography.

    Science.gov (United States)

    Ban, Ryokuya; Matsuo, Kiyoshi; Osada, Yoshiro; Ban, Midori; Yuzuriha, Shunsuke

    2010-01-01

    We have proposed a hypothetical mechanism to involuntarily sustain the effective eyelid retraction, which consists of not only voluntary but also reflexive contractions of the levator palpebrae superior muscle (LPSM). Voluntary contraction of fast-twitch fibres of the LPSM stretches the mechanoreceptors in Mueller's muscle to evoke trigeminal proprioception, which induces continuous reflexive contraction of slow-twitch fibres of the LPSM through the trigeminal proprioceptive nerve fibres innervating the mechanoreceptors in Mueller's muscle via the oculomotor neurons, as a tonic trigemino-oculomotor reflex. In the common skeletal mixed muscles, electrical stimulation of the proprioceptive nerve, which apparently connects the mechanoreceptors in muscle spindles to the motoneurons, induces the electromyographic response as the Hoffmann reflex. To verify the presence of the trigemino-oculomotor reflex, we confirmed whether intra-operative electrical simulation of the transverse trigeminal proprioceptive nerve on the proximal Mueller's muscle evokes an electromyographic response in the LPSM under general anaesthesia in 12 patients. An ipsilateral, phasic, short-latency response (latency: 2.8+/-0.3 ms) was induced in the ipsilateral LPSM in 10 of 12 subjects. As successful induction of the short-latency response in the ipsilateral LPSM corresponds to the Hoffmann reflex in the common skeletal mixed muscles, the present study is the first electromyographic verification of the presence of the monosynaptic trigemino-oculomotor reflex to induce reflexive contraction of the LPSM. The presence of the trigemino-oculomotor reflex may elucidate the unexplainable blepharoptosis due to surgery, trauma and tumour, all of which may damage the trigeminal proprioceptive nerve fibres to impair the trigemino-oculomotor reflex. Copyright (c) 2008. Published by Elsevier Ltd.

  13. Forearm Compartment Syndrome Caused by Reperfusion Injury

    Directory of Open Access Journals (Sweden)

    Ufuk Sayar

    2014-01-01

    Full Text Available Compartment syndrome is commonly seen following lower extremity ischemia. However, upper extremities’ compartment syndrome, especially after any vascular surgical procedures, is infrequent. Herein we report a case of an acute forearm compartment syndrome that was developed after delayed brachial artery embolectomy.

  14. Capgras syndrome related to diazepam treatment.

    Science.gov (United States)

    Stewart, Jonathan T

    2004-01-01

    Capgras syndrome, the delusion that identical-appearing impostors have replaced familiar people, is an unusual phenomenon usually seen in schizophrenia or dementia. We recently cared for a 78 year old man who seemed to develop Capgras syndrome as an adverse reaction to diazepam. An iatrogenic cause should be considered in the differential diagnosis of any new delusion, including Capgras syndrome.

  15. Cardiorenal syndrome

    Directory of Open Access Journals (Sweden)

    Sabry Omar

    2013-01-01

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

  16. Dyspepsia and gastroesophageal reflux disease (GERD): is there any correlation?

    Science.gov (United States)

    Simadibrata, Marcellus

    2009-10-01

    Dyspepsia is a syndrome characterized by symptoms and signs of upper gastrointestinal tract and the adjacent organs. It is estimated that 25% of the community have symptoms of dyspepsia syndrome. One-third of patients who visit general physician practices are patients with dyspepsia syndrome; and half of patients who visit gastroenterologists are also patients with dyspepsia syndrome. Dyspepsia syndrome and gastroesophageal reflux disease (GERD) are very prevalent in the community throughout the world.Gastroesophageal reflux disease (GERD) is more and more commonly found in daily medical practice. Until now,the natural history of disease on GERD and dyspepsia is hardly understood, even though many scientists studied both conditions and there are frequently overlapping. In an individual, GERD and dyspepsia may occur simultaneously and therefore they are hardly to be discriminated.The management of GERD is performed in keeping with Indonesia and Asia Pacific consensus, life-style modification and administering the acid suppression agents (Proton pump inhibitor (drug of choice), H2-receptor antagonist, etc),prokinetic agents (Cisapride, domperidone, etc). Life-style modification shall be performed as follows, i.e. sleep with 30-45 degree elevated head or upper chest, do not avoid sour beverages, chocolate, coffee or alcohol, avoid fat and various fried foods, sour food, less stress, stop smoking, small but frequent feeding, etc. There is a correlation between dyspepsia syndrome and gastroesophageal reflux disease(GERD), particularly between the functional dyspepsia and non-erosive gastroesophageal reflux (NERD). More appropriate definition is necessary to differentiate the dyspepsia syndrome and GERD. Further studies are needed to establish distinct definition and criteria between dyspepsia syndrome and GERD.

  17. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

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

  18. Cushing's Syndrome

    Science.gov (United States)

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

  19. Usher Syndrome

    Science.gov (United States)

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

  20. Metabolic Syndrome

    Science.gov (United States)

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

  1. Reye Syndrome

    Science.gov (United States)

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

  2. Rett Syndrome

    Science.gov (United States)

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

  3. Caplan syndrome

    Science.gov (United States)

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

  4. Turner Syndrome

    Science.gov (United States)

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

  5. Gardner's syndrome

    International Nuclear Information System (INIS)

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

    1988-01-01

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

  6. Sotos Syndrome

    Science.gov (United States)

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

  7. Felty syndrome

    Science.gov (United States)

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

  8. Bartter syndrome

    Science.gov (United States)

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

  9. Pendred Syndrome

    Science.gov (United States)

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

  10. Dravet Syndrome

    Science.gov (United States)

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

  11. Vitamin D and Multiple Sclerosis (MS): Is There Any Connection?

    Science.gov (United States)

    ... there any connection? Is there any proof that vitamin D supplements can prevent MS or keep symptoms ... School have suggested that maintaining adequate levels of vitamin D may have a protective effect and lower ...

  12. Any : üheksakümnendate projekt / Triin Ojari

    Index Scriptorium Estoniae

    Ojari, Triin, 1974-

    2000-01-01

    1990. a. New Yorgis loodud korporatsiooni 'Anyone' poolt juhitud konverentse, diskussioone ja publikatsioone ('ANY Magazine', aastaraamatud, raamatuseeria 'Writind Architecture') hõlmavast arhitektuuriprojektist. Any viimasest konverentsist 2000. a. juunis

  13. AIDS: Is Any Risk Too Great? The 1987 Perspective.

    Science.gov (United States)

    Hartog-Rapp, Fay

    This report discusses public school legal liability in the Acquired Immune Deficiency Syndrome (AIDS) controversy with regard to the right of privacy of AIDS victims who are students and employees and the concern of risk of contagion to other students and employees and the public's right to know what is going on in their schools. Several steps…

  14. Down Syndrome

    Science.gov (United States)

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

  15. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

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

  16. Aicardi Syndrome

    Science.gov (United States)

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

  17. Sleep overlap syndrome

    Directory of Open Access Journals (Sweden)

    Fariba Rezaeetalab

    2016-12-01

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

  18. Dravets syndrom

    DEFF Research Database (Denmark)

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

    2010-01-01

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

  19. Case report: waardenburg syndrome.

    Science.gov (United States)

    Dumayas, Grace Lea; Capó-Aponte, José E

    2015-03-01

    A case of Waardenburg syndrome type 1 is described and relevant literature is reviewed to raise awareness about this rare syndrome, including the classification of each subtype and the differentiating clinical manifestations. A 44-year-old African-American female presented for a routine evaluation with hearing loss, dystopia canthorum (W index = 2.74), and almost complete gray hair. In addition, she presented with heterochromia irides, different fundus pigmentation between eyes. The patient did not have any upper limbs defect, cranial skeletal abnormalities, or intestinal disorders. Facial abnormalities and a white forelock are prominent features difficult to overlook during a routine ophthalmological examination. A careful medical history in patients with suspected Waardenburg syndrome is important to accurately classify this rare condition and to identify potential systemic implications associated to each subtype. The associated systemic complications can be addressed and managed through referral to the appropriate subspecialties. Reprint & Copyright © 2015 Association of Military Surgeons of the U.S.

  20. Diminuição da função do músculo levantador da pálpebra superior em pacientes submetidos à cirurgia de ptose palpebral involucional e dermatocálase Decrease of upper eyelid levator muscle function after involutional ptosis and dermatochalasis surgery

    Directory of Open Access Journals (Sweden)

    Eliana Forno

    2008-12-01

    Full Text Available OBJETIVO: Avaliar a diferença da função do músculo levantador da pálpebra superior (FMLPS, distância margem reflexo (DMR1 e altura do sulco palpebral (AS antes e depois da cirurgia de blefaroplastia superior associada à correção de ptose palpebral. MÉTODOS: Quarenta e quatro pacientes com blefaroptose e dermatocálase foram incluídos. Intervenção: exploração do tendão do músculo levantador da pálpebra superior (MLPS durante a blefaroplastia, em portadores de blefaroptose e dermatocálase. Nos casos de desinserção, o tendão foi refixado ao tarso. Desfechos analisados: foram analisados de forma bilateral a diferença entre FMLPS, DMR1 e AS antes e depois da intervenção. A dependência entre os olhos foi corrigida por meio de equações de estimativa generalizada. Foi utilizada a correlação de Pearson para quantificar a dependência entre os olhos para FMLPS, DMR1 e AS. RESULTADOS: Houve diferença significante entre as medidas de FMLPS antes e depois da cirurgia, havendo redução da excursão do MLPS após a cirurgia, diminuindo, em média, 1,1 mm (P0,01. CONCLUSÃO: A função do músculo levantador da pálpebra superior diminui após a cirurgia para a correção da ptose.PURPOSE: To evaluate the differences between upper eyelid levator muscle function (UELMF, margin reflex distance (MDR1, and eyelid crease height (ECH before and after ptosis and dermatochalasis surgery. METHODS: Forty-four patients with blepharoptosis and dermatochalasis were enrolled. Intervention: An exploration of the levator tendon (LT during a blepharoplasty procedure in patients with blepharoptosis and dermatochalasis and in case of its disinsertion, the tendon was reattached to the tarsus. Measured outcome: The differences between UELMF, MDR1, ECH before and after surgery were evaluated bilaterally. Dependency between both eyes was corrected by generalized estimating equations. Pearson correlation was used to evaluate the dependency of the two

  1. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

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

  2. Refeeding syndrome

    OpenAIRE

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

    2008-01-01

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

  3. 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.

  4. A Method to Estimate the Probability that Any Individual Cloud-to-Ground Lightning Stroke was Within Any Radius of Any Point

    Science.gov (United States)

    Huddleston, Lisa; Roeder, WIlliam P.; Merceret, Francis J.

    2011-01-01

    A new technique has been developed to estimate the probability that a nearby cloud-to-ground lightning stroke was within a specified radius of any point of interest. This process uses the bivariate Gaussian distribution of probability density provided by the current lightning location error ellipse for the most likely location of a lightning stroke and integrates it to determine the probability that the stroke is inside any specified radius of any location, even if that location is not centered on or even within the location error ellipse. This technique is adapted from a method of calculating the probability of debris collision with spacecraft. Such a technique is important in spaceport processing activities because it allows engineers to quantify the risk of induced current damage to critical electronics due to nearby lightning strokes. This technique was tested extensively and is now in use by space launch organizations at Kennedy Space Center and Cape Canaveral Air Force station. Future applications could include forensic meteorology.

  5. Update on antiphospholipid antibody syndrome.

    Science.gov (United States)

    Lopes, Michelle Remião Ugolini; Danowski, Adriana; Funke, Andreas; Rêgo, Jozelia; Levy, Roger; Andrade, Danieli Castro Oliveira de

    2017-11-01

    Antiphospholipid syndrome (APS) is an autoimmune disease characterized by antiphospholipid antibodies (aPL) associated with thrombosis and/or pregnancy morbidity. Most APS events are directly related to thrombotic events, which may affect small, medium or large vessels. Other clinical features like thrombocytopenia, nephropathy, cardiac valve disease, cognitive dysfunction and skin ulcers (called non-criteria manifestations) add significant morbidity to this syndrome and represent clinical situations that are challenging. APS was initially described in patients with systemic lupus erythematosus (SLE) but it can occur in patients without any other autoimmune disease. Despite the autoimmune nature of this syndrome, APS treatment is still based on anticoagulation and antiplatelet therapy.

  6. Roentgenologic abnormalities in Down's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Higuchi, Takehiko; Russell, W J; Komatsuda, Michio; Neriishi, Shotaro

    1968-07-25

    Roentgenograms of 28 patients with Down's syndrome were reviewed with emphasis on all previously reported abnormalities and any possible additional ones. Most of the abnormalities occurred with the same frequency as previously reported, but some less frequently reported findings were also seen. One abnormal vertebral measurement found in this series may be an additional stigma of Down's syndrome. All of the 27 cases studied cytogenetically had chromosomal abnormalities consistent with this disease. This study emphasizes the need for roentgenologic norms for the Japanese, and the desirability of combining chromosome studies with roentgenological abnormalities and clinical observations in diagnosing Down's syndrome. 19 references, 2 figures, 5 tables.

  7. 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

  8. Reye's Syndrome

    Science.gov (United States)

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

  9. Marfan Syndrome (For Teens)

    Science.gov (United States)

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

  10. Learning about Marfan Syndrome

    Science.gov (United States)

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

  11. Russell-Silver syndrome

    Science.gov (United States)

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

  12. Burning mouth syndrome: update

    OpenAIRE

    Cassol Spanemberg, Juliana; Rodríguez de Rivera Campillo, Ma Eugenia; Jané Salas, Enric; López López, José, 1958-

    2014-01-01

    Burning Mouth Syndrome (BMS) is a chronic disorder that predominately affects middle-aged women in the postmenopausal period. The condition is distinguished by burning symptoms of the oral mucosa and the absence of any clinical signs. The etiology of BMS is complex and it includes a variety of factors. Local, systemic and psychological factors such as stress, anxiety and depression are listed among the possible causes of BMS. BMS may sometimes be classified as BMS Type I, II or III. Although ...

  13. Seckel syndrome: an overdiagnosed syndrome.

    OpenAIRE

    Thompson, E; Pembrey, M

    1985-01-01

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

  14. 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...

  15. Tourette Syndrome

    Science.gov (United States)

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

  16. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

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

  17. Ambras syndrome

    Directory of Open Access Journals (Sweden)

    Sudhir Malwade

    2015-01-01

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

  18. 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....

  19. Noonan syndrome

    OpenAIRE

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

    2013-01-01

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

  20. TAFRO Syndrome.

    Science.gov (United States)

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

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

  1. Hypothyroidism in metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Sunil Kumar Kota

    2012-01-01

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

  2. Information System through ANIS at CeSAM

    Science.gov (United States)

    Moreau, C.; Agneray, F.; Gimenez, S.

    2015-09-01

    ANIS (AstroNomical Information System) is a web generic tool developed at CeSAM to facilitate and standardize the implementation of astronomical data of various kinds through private and/or public dedicated Information Systems. The architecture of ANIS is composed of a database server which contains the project data, a web user interface template which provides high level services (search, extract and display imaging and spectroscopic data using a combination of criteria, an object list, a sql query module or a cone search interfaces), a framework composed of several packages, and a metadata database managed by a web administration entity. The process to implement a new ANIS instance at CeSAM is easy and fast : the scientific project has to submit data or a data secure access, the CeSAM team installs the new instance (web interface template and the metadata database), and the project administrator can configure the instance with the web ANIS-administration entity. Currently, the CeSAM offers through ANIS a web access to VO compliant Information Systems for different projects (HeDaM, HST-COSMOS, CFHTLS-ZPhots, ExoDAT,...).

  3. Macromastia in a newborn with Alagille syndrome

    International Nuclear Information System (INIS)

    Zinn, H.L.; Haller, J.O.; Kedia, S.

    1999-01-01

    We present a case of macromastia in a newborn with Alagille syndrome. A review of the literature failed to find any prior reports of this finding in Alagille syndrome patients. We propose that this patient's macromastia may be related to her liver failure and abnormal estrogen metabolism. (orig.)

  4. Cerebral gigantism (Sotos' syndrome) and cataracts.

    Science.gov (United States)

    Yeh, H; Price, R L; Lonsdale, D

    1978-01-01

    A five-year-old girl with cerebral gigantism (Sotos' syndrome) and cataracts is described. Sotos' syndrome, characterized by generalized gigantism with normal endocrine studies has rarely been reported with ocular abnormalities and never with cataracts. It is important to study any child with cataracts for systemic disease.

  5. Pseudoprune Belly Syndrome; Its\\' Associations and Management ...

    African Journals Online (AJOL)

    Abstract. Background: Pseudo prune belly syndrome is an incomplete expression of the triad syndrome. Its incidence is poorly documented worldwide. We are not aware of any documented cases in Nigeria in recent times. Diagnosis is clinical; however, ultrasound scan plays key role in the overall assessment of the patient.

  6. Churg Strauss syndrome; Sindrome de Churg Strauss

    Energy Technology Data Exchange (ETDEWEB)

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

    2007-07-01

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

  7. LINTAB, Linear Interpolable Tables from any Continuous Variable Function

    International Nuclear Information System (INIS)

    1988-01-01

    1 - Description of program or function: LINTAB is designed to construct linearly interpolable tables from any function. The program will start from any function of a single continuous variable... FUNKY(X). By user input the function can be defined, (1) Over 1 to 100 X ranges. (2) Within each X range the function is defined by 0 to 50 constants. (3) At boundaries between X ranges the function may be continuous or discontinuous (depending on the constants used to define the function within each X range). 2 - Method of solution: LINTAB will construct a table of X and Y values where the tabulated (X,Y) pairs will be exactly equal to the function (Y=FUNKY(X)) and linear interpolation between the tabulated pairs will be within any user specified fractional uncertainty of the function for all values of X within the requested X range

  8. Statistical mechanics of polymer networks of any topology

    International Nuclear Information System (INIS)

    Duplantier, B.

    1989-01-01

    The statistical mechanics is considered of any polymer network with a prescribed topology, in dimension d, which was introduced previously. The basic direct renormalization theory of the associated continuum model is established. It has a very simple multiplicative structure in terms of the partition functions of the star polymers constituting the vertices of the network. A calculation is made to O(ε 2 ), where d = 4 -ε, of the basic critical dimensions σ L associated with any L=leg vertex (L ≥ 1). From this infinite series of critical exponents, any topology-dependent critical exponent can be derived. This is applied to the configuration exponent γ G of any network G to O(ε 2 ), including L-leg star polymers. The infinite sets of contact critical exponents θ between multiple points of polymers or between the cores of several star polymers are also deduced. As a particular case, the three exponents θ 0 , θ 1 , θ 2 calculated by des Cloizeaux by field-theoretic methods are recovered. The limiting exact logarithmic laws are derived at the upper critical dimension d = 4. The results are generalized to the series of topological exponents of polymer networks near a surface and of tricritical polymers at the Θ-point. Intersection properties of networks of random walks can be studied similarly. The above factorization theory of the partition function of any polymer network over its constituting L-vertices also applies to two dimensions, where it can be related to conformal invariance. The basic critical exponents σ L and thus any topological polymer exponents are then exactly known. Principal results published elsewhere are recalled

  9. Radiographic techniques adaptation for any conventional X-ray equipment

    International Nuclear Information System (INIS)

    Pina, Diana R.; Ghilardi Netto, Thomaz; Martinez, Alexandre S.; Duarte, Sergio B.; Trad, Clovis S.; Brochi, Marco Aurelio C.

    2001-01-01

    In order to obtain a better risk-benefice relation in diagnostic radiology it turns out to be essential the control and optimization of the radiographic techniques used to reduce the absorbed doses until its minimum, keeping or adjusting the diagnostic image at any X-ray equipment. The present work deals with the standardization of radiographic techniques of chest, skull and pelvis, which is more suitable for obtaining a safe diagnostic with smaller doses, for a standard patient, at any conventional X-ray equipment. (author)

  10. Animal Botulism Outcomes in the AniBioThreat Project

    DEFF Research Database (Denmark)

    Woudstra, Cédric; Tevell Åberg, Annica; Skarin, Hanna

    2013-01-01

    and botulinum neurotoxins are considered potential weapons for bioterrorism and have been included in the Australia Group List of Biological Agents. In 2010 the European Commission (DG Justice, Freedom and Security) funded a 3-year project named AniBioThreat to improve the EU's capacity to counter animal...... new genetic information to better understand the diversity of these Clostridia and develop detection methods targeting both highly specific genetic markers of these Clostridia and the neurotoxins they are able to produce. Several European institutes participating in the AniBioThreat project...

  11. Actively Secure Two-Party Evaluation of Any Quantum Operation

    DEFF Research Database (Denmark)

    Dupuis, Frédéric; Nielsen, Jesper Buus; Salvail, Louis

    2012-01-01

    We provide the first two-party protocol allowing Alice and Bob to evaluate privately even against active adversaries any completely positive, trace-preserving map , given as a quantum circuit, upon their joint quantum input state . Our protocol leaks no more to any active adversary than an ideal ...... functionality for provided Alice and Bob have the cryptographic resources for active secure two-party classical computation. Our protocol is constructed from the protocol for the same task secure against specious adversaries presented in [4]....

  12. Black Hole Entropy from Conformal Field Theory in Any Dimension

    International Nuclear Information System (INIS)

    Carlip, S.

    1999-01-01

    Restricted to a black hole horizon, the open-quotes gaugeclose quotes algebra of surface deformations in general relativity contains a Virasoro subalgebra with a calculable central charge. The fields in any quantum theory of gravity must transform accordingly, i.e., they must admit a conformal field theory description. Applying Cardy close-quote s formula for the asymptotic density of states, I use this result to derive the Bekenstein-Hawking entropy. This method is universal it holds for any black hole, and requires no details of quantum gravity but it is also explicitly statistical mechanical, based on counting microscopic states. copyright 1999 The American Physical Society

  13. Modeling of Some Chaotic Systems with AnyLogic Software

    Directory of Open Access Journals (Sweden)

    Biljana Zlatanovska

    2018-05-01

    Full Text Available The chaotic systems are already known in the theory of chaos. In our paper will be analyzed the following chaotic systems: Rossler, Chua and Chen systems. All of them are systems of ordinary differential equations. By mathematical software Mathematica and MatLab, their graphical representation as continuous dynamical systems is already known. By computer simulations, via examples, the systems will be analyzed using AnyLogic software. We would like to present the way how ordinary differential equations are modeling with AnyLogic software, as one of the simplest software for use.

  14. Characterization of nickel nanocones routed by electrodeposition without any template.

    Science.gov (United States)

    Hang, Tao; Li, Ming; Fei, Qin; Mao, Dali

    2008-01-23

    This work reports the synthesis of Ni nanocones by a one-step electrodeposition method without any template. With the addition of ethylenediamine dihydrochloride (EDA·2HCl) in the nickel plating solution, the novel Ni conical structure can be easily deposited onto different metal surfaces. The as-prepared nickel nanocones grow preferentially along [Formula: see text] directions with very sharp tips. The conical structures are single crystalline without any disruption of the lattice planes. In addition, the Ni nanocone structure is demonstrated to show magnetocrystalline anisotropy and enhance the magnetic properties when compared with other Ni nanostructures.

  15. What Are the Symptoms of Rett Syndrome?

    Science.gov (United States)

    ... any stage) can include: Loss of ability to grasp and intentionally touch things Loss of ability to ... Rett syndrome rely on feeding tubes.) Disrupted sleep patterns at night (during childhood) and increased sleep (after ...

  16. Design principle and structure of the ANI data centre

    International Nuclear Information System (INIS)

    Akopov, N.Z.; Arutyunyan, S.Kh.; Chilingaryan, A.A.; Galfayan, S.Kh.; Matevosyan, V.Kh.; Zazyan, M.Z.

    1985-01-01

    The design principles and structure of applied statistical programms used for processing the data from the ANI experiments are described. Nonparametric algorithms provide development of high-efficient method for simultaneous analysis of computerized and experimental data, from cosmic ray experiments. Relation data base for unified data storage, protection, renewing and erasuring as well as for fast and convenient information retrieval is considered

  17. Physician/patient relationship: any limit to confidentiality? | Eresia ...

    African Journals Online (AJOL)

    It is within this framework that the study is hoisted to explore if there exists any value-ladden gauge which regulates or guides the choice medical practitioners make when faced with such challenge. Within this purview, the study advances the position that health practioners, especially, doctors should align themselves to the ...

  18. Active Learning: 101 Strategies To Teach Any Subject.

    Science.gov (United States)

    Silberman, Mel

    This book contains specific, practical strategies that can be used for almost any subject matters to promote active learning. It brings together in one source a comprehensive collection of instructional strategies, with ways to get students to be active from the beginning through activities that build teamwork and get students thinking about the…

  19. Imaging of the vertical particle tracks without any depth scanning

    International Nuclear Information System (INIS)

    Soroko, L.M.

    2001-01-01

    The principle of a new optical microscope which enables us to get the image of a vertical particle track without any depth scanning is described. This new optical microscope contains a spatial transformer which consists of mirror lamellar elements and which produces a secondary in focus image of the vertical particle track. Properties of such a system are presented. A longitudinal resolution is estimated

  20. The genus Architeuthis was erected, without giving any diagnosis ...

    African Journals Online (AJOL)

    spamer

    The genus Architeuthis was erected, without giving any diagnosis, by Steenstrup in 1857 for a specimen stranded on the Danish coast in 1853. In 1880, Verrill gave the first description of the genus. Pfeffer (1912) related this history and also mentioned that traditional narratives and illustrations of the 16th century had.

  1. Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Neeraj Sharma

    2013-01-01

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

  2. Cowden syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Prakash S

    2010-01-01

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

  3. Costello syndrome

    Directory of Open Access Journals (Sweden)

    Madhukara J

    2007-01-01

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

  4. Imaging of Budd-Chiari syndrome

    International Nuclear Information System (INIS)

    Buckley, O.; O' Brien, J.; Snow, A.; Stunell, H.; Torreggiani, W.C.; Lyburn, I.; Munk, P.L.

    2007-01-01

    Budd-Chiari syndrome occurs when venous outflow from the liver is obstructed. The obstruction may occur at any point from the hepatic venules to the left atrium. The syndrome most often occurs in patients with underlying thrombotic disorders such as polycythemia rubra vera, paroxysmal nocturnal hemoglobinuria and pregnancy. It may also occur secondary to a variety of tumours, chronic inflammatory diseases and infections. Imaging plays an important role both in establishing the diagnosis of Budd-Chiari syndrome as well as evaluating for underlying causes and complications such as portal hypertension. In this review article, we discuss the role of modern imaging in the evaluation of Budd-Chiari syndrome. (orig.)

  5. Imaging of Budd-Chiari syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Buckley, O.; O' Brien, J.; Snow, A.; Stunell, H.; Torreggiani, W.C. [Adelaide and Meath Hospital, Incorporating the National Children' s Hospital (AMNCH), Department of Radiology, Dublin 24 (Ireland); Lyburn, I. [Cheltenham Hospital, Department of Radiology, Cheltenham (United Kingdom); Munk, P.L. [Vancouver General Hospital, Department of Radiology, Vancouver (Canada)

    2007-08-15

    Budd-Chiari syndrome occurs when venous outflow from the liver is obstructed. The obstruction may occur at any point from the hepatic venules to the left atrium. The syndrome most often occurs in patients with underlying thrombotic disorders such as polycythemia rubra vera, paroxysmal nocturnal hemoglobinuria and pregnancy. It may also occur secondary to a variety of tumours, chronic inflammatory diseases and infections. Imaging plays an important role both in establishing the diagnosis of Budd-Chiari syndrome as well as evaluating for underlying causes and complications such as portal hypertension. In this review article, we discuss the role of modern imaging in the evaluation of Budd-Chiari syndrome. (orig.)

  6. Reye Syndrome

    Science.gov (United States)

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

  7. Alagille Syndrome

    Science.gov (United States)

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

  8. Turner Syndrome

    Science.gov (United States)

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

  9. [Refeeding syndrome].

    Science.gov (United States)

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

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

  10. Cockayne syndrome

    DEFF Research Database (Denmark)

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

    2017-01-01

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

  11. Alagille Syndrome

    Science.gov (United States)

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

  12. Reye Syndrome

    Science.gov (United States)

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

  13. Turner Syndrome

    Science.gov (United States)

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

  14. Cushing's Syndrome

    Science.gov (United States)

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

  15. Alport Syndrome

    Science.gov (United States)

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

  16. Gilbert's Syndrome

    Science.gov (United States)

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

  17. 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 ...

  18. Moebius Syndrome

    Science.gov (United States)

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

  19. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

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

  20. Angelman Syndrome

    Science.gov (United States)

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

  1. Joubert Syndrome

    Science.gov (United States)

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

  2. Zellweger Syndrome

    Science.gov (United States)

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

  3. Nephrotic Syndrome

    Science.gov (United States)

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

  4. Ohtahara Syndrome

    Science.gov (United States)

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

  5. Usher Syndrome

    Science.gov (United States)

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

  6. Treatment of metabolic syndrome.

    Science.gov (United States)

    Wagh, Arati; Stone, Neil J

    2004-03-01

    should be considered in those with at least a 10% risk of a coronary event over 10 years. Finally, three related conditions, nonalcoholic fatty liver disease, polycystic ovary syndrome and protease inhibitor associated lipodystrophy improve with therapeutic lifestyle change. Although metformin is shown to be useful with polycystic ovary syndrome, the data supporting drug therapy for the other syndromes is less convincing. More robust studies are needed before any firm recommendations can be made.

  7. Eagle's Syndrome

    OpenAIRE

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

    2013-01-01

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

  8. Barth Syndrome

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  9. Pendred's syndrome

    International Nuclear Information System (INIS)

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

    2003-01-01

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

  10. Adrenal disorders: Is there Any role for vitamin D?

    Science.gov (United States)

    Tirabassi, Giacomo; Salvio, Gianmaria; Altieri, Barbara; Ronchi, Cristina L; Della Casa, Silvia; Pontecorvi, Alfredo; Balercia, Giancarlo

    2017-09-01

    An emerging branch of research is examining the linkage between Vitamin D and nonskeletal disorders, including endocrine diseases. In this regard, a still little studied aspect concerns the involvement of vitamin D in adrenal gland disorders. Adrenal gland disorders, which might be theoretically affected by vitamin D unbalance, include adrenal insufficiency, Cushing's syndrome, adrenocortical tumors and hyperaldosteronism. In this review, we provide an updated document, which tries to collect and discuss the limited evidence to be found in the literature about the relationship between vitamin D and adrenal disorders. We conclude that there is insufficient evidence proving a causal relationship between vitamin D levels and adrenal disorders. Evidence coming from cross-sectional clinical studies can hardly clarify what comes first between vitamin D unbalance and adrenal disease. On the other hand, longitudinal studies monitoring the levels of vitamin D in patients with adrenal disorders or, conversely, the possible development of adrenal pathologies in subjects affected by impaired vitamin D levels would be able to elucidate this still unclear issue.

  11. Toxoplasma gondii infection and chronic schizophrenia: is there any association?

    Directory of Open Access Journals (Sweden)

    Salvina Maria de Campos-Carli

    Full Text Available ABSTRACT Background: Toxoplasma gondii (T. gondii infection has been identified as a risk factor for schizophrenia. Objectives: Herein, we sought to evaluate the association between T. gondii infection and clinical symptoms and quality of life in patients with schizophrenia. Methods: We conducted a cross-sectional study with 48 patients with chronic schizophrenia and 40 controls. Peripheral blood was drawn, and IgM and IgG anti-T. gondii antibodies were evaluated by Enzyme-Linked Immunosorbent Assay (ELISA. Depressive, positive and negative symptoms were assessed, respectively, by the Calgary Depression Scale (CDS and the Positive and Negative Syndrome Scale (PANSS. Cognitive performance was assessed in patients by the Brazilian version of the Schizophrenia Cognition Rating Scale (SCoRS-BR. Quality of life was assessed by the Brazilian version of the Quality of Life in Schizophrenia scale (QLS-BR. Results: The prevalence and titers of T. gondii IgM and IgG antibodies did not differ between patients and controls. The positive serology for T. gondii IgG antibodies was not associated with illness symptoms, cognitive performance, depressive symptoms or quality of life. Discussion: Our findings suggest that toxoplasmosis infection is not associated with severity of symptoms, quality of life, cognitive or depressive symptoms in schizophrenia patients.

  12. Is there any effect of insulin resistance on male reproductive system?

    Directory of Open Access Journals (Sweden)

    Ayhan Verit

    2014-03-01

    Full Text Available Objectives: To investigate the possible effect of insulin resistance (IR on male reproductive system via evaluation of semen analysis, male sex hormones and serum lipid profiles, and testicular volumes. Methods: After the exclusions, a total of 80 male patients were enrolled in this prospective study. Body Mass Index (BMI, Testicular volume, semen samples, serum hormone/lipid profiles, high sensitive C-Reactive Protein (hsCRP were obtained from all the subjects. Results: The patients were divided into two groups as study and control according to the presence of IR. There were no statistical differences in terms of age, marriage period, testicular volume, serum levels of hormone and lipid profiles and BMI between the groups. There were no relationship between homeostasis model assessment of insulin resistance (HOMA-IR and semen volume (r = -0.10, p = 0.37, total sperm count (r = -0.09, p = 0.39, motility (r = -0.15, p = 0.16 and morphology (r = -0.14, p = 0.19. However, HOMA-IR was closely associated with hsCRP levels (r = 0.94, p < 0.0001. Conclusions: Despite of the documented strong inverse relationships between Diabetes Mellitus (DM and male/female fertility, and also between IR and female infertility via ovarian functions as in polycystic ovary syndrome, to our knowledge, there is no report about any influence of IR on male fertility. DM and metabolic syndrome (MetS have negative influence on fertility. Thus, IR may be accused of causing detrimental effect on male infertility due to hyperinsulinemic state and being one of the components for MetS. Interestingly, due to our preliminary results, we do not found any inverse correlation between IR and male reproductive functions.

  13. [Poland's syndrome].

    Science.gov (United States)

    Slezak, R; Sasiadek, M

    2000-08-01

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

  14. What is Metabolic Syndrome?

    Science.gov (United States)

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

  15. Loeys-Dietz Syndrome

    Science.gov (United States)

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

  16. Milk-alkali syndrome

    Science.gov (United States)

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

  17. Exogenous Cushing syndrome

    Science.gov (United States)

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

  18. Turner Syndrome: Other FAQs

    Science.gov (United States)

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

  19. The osteoporosis pseudoglioma syndrome

    International Nuclear Information System (INIS)

    Swoboda, W.; Grill, F.

    1988-01-01

    Two siblings (male, 29 years, and female, 13 years) with the rare autosomal recessive osteoporosis pseudoglioma syndrome are reported in detail. All essential signs and symptoms of the full clinical picture were present and are documented by impressive X-ray pictures. Some aspects of our patients are compared with relevant findings of previous reports. Collagen studies (skin biopsies) failed to reveal any significant disorder of the main collagen types composition. Striking similarities with established genetic disorders of collagen (like the osteogenesis imperfecta group and the Ehlers-Danlos syndrome) suggest, however, that the OPS could be a primary collagen disorder. Genetic counselling and devoted socio-medical care for these handicapped children is presently the only help which can be offered. (orig.)

  20. Any light particle search II. Technical Design Report

    International Nuclear Information System (INIS)

    Baehre, Robin; Doebrich, Babette; Dreyling-Eschweiler, Jan

    2013-02-01

    This document constitutes an excerpt of the Technical Design Report for the second stage of the ''Any Light Particle Search'' (ALPS-II) at DESY as submitted to the DESY PRC in August 2012 and reviewed in November 2012. ALPS-II is a ''Light Shining through a Wall'' experiment which searches for photon oscillations into weakly interacting sub-eV particles. These are often predicted by extensions of the Standard Model and motivated by astrophysical phenomena. The first phases of the ALPS-II project were approved by the DESY management on February 21st, 2013.

  1. Massive and massless gauge fields of any spin and symmetry

    International Nuclear Information System (INIS)

    Hussain, F.; Jarvis, P.D.

    1988-05-01

    An analysis of the BRST approach to massive and massless gauge fields of any spin and symmetry is presented. Previous results on massless gauge fields are extended to totally antisymmetric massless tensors and Kaehler-Dirac particles. Two methods for arriving at a BRST invariant, massive theory from the corresponding massless one are discussed. The first allows for an interpretation in terms of dimensional reduction, while the second keeps the BRST operator of the massless theory, but employs gauge invariant fields. (author). 10 refs

  2. The Ensembl REST API: Ensembl Data for Any Language.

    Science.gov (United States)

    Yates, Andrew; Beal, Kathryn; Keenan, Stephen; McLaren, William; Pignatelli, Miguel; Ritchie, Graham R S; Ruffier, Magali; Taylor, Kieron; Vullo, Alessandro; Flicek, Paul

    2015-01-01

    We present a Web service to access Ensembl data using Representational State Transfer (REST). The Ensembl REST server enables the easy retrieval of a wide range of Ensembl data by most programming languages, using standard formats such as JSON and FASTA while minimizing client work. We also introduce bindings to the popular Ensembl Variant Effect Predictor tool permitting large-scale programmatic variant analysis independent of any specific programming language. The Ensembl REST API can be accessed at http://rest.ensembl.org and source code is freely available under an Apache 2.0 license from http://github.com/Ensembl/ensembl-rest. © The Author 2014. Published by Oxford University Press.

  3. Supersymmetry and pseudoclassical dynamics of particle with any spin

    International Nuclear Information System (INIS)

    Srivastava, P.P.

    1976-12-01

    The use of anticommuting c-numbers in describing physical systems and their simmetries has recently drawn much interest. Supersymmetry among bosons and fermions can be given an adequate formulation using them. Applications to Hamiltonian dynamics of electron adapting Dirac's method of handling singular Lagrangians were quite successful. An extension to particle of any spin following the systematic treatment of Casalbuoni et al. is discussed here. Formulation of Bargmann and Wigner for relativistic particle is obtained on quantization in self-consistent manner. It may be remarked that some of the Dirac brackets between anticommuting variables are required to go to commutators instead of anticommutators

  4. The stable model semantics under the any-world assumption

    OpenAIRE

    Straccia, Umberto; Loyer, Yann

    2004-01-01

    The stable model semantics has become a dominating approach to complete the knowledge provided by a logic program by means of the Closed World Assumption (CWA). The CWA asserts that any atom whose truth-value cannot be inferred from the facts and rules is supposed to be false. This assumption is orthogonal to the so-called the Open World Assumption (OWA), which asserts that every such atom's truth is supposed to be unknown. The topic of this paper is to be more fine-grained. Indeed, the objec...

  5. Any light particle search II. Technical Design Report

    Energy Technology Data Exchange (ETDEWEB)

    Baehre, Robin [Albert Einstein Institute, Hannover (Germany); Doebrich, Babette; Dreyling-Eschweiler, Jan [Deutsches Elektronen-Synchrotron, Hamburg (Germany)] [and others

    2013-02-15

    This document constitutes an excerpt of the Technical Design Report for the second stage of the ''Any Light Particle Search'' (ALPS-II) at DESY as submitted to the DESY PRC in August 2012 and reviewed in November 2012. ALPS-II is a ''Light Shining through a Wall'' experiment which searches for photon oscillations into weakly interacting sub-eV particles. These are often predicted by extensions of the Standard Model and motivated by astrophysical phenomena. The first phases of the ALPS-II project were approved by the DESY management on February 21st, 2013.

  6. The ABC (in any D) of logarithmic CFT

    Science.gov (United States)

    Hogervorst, Matthijs; Paulos, Miguel; Vichi, Alessandro

    2017-10-01

    Logarithmic conformal field theories have a vast range of applications, from critical percolation to systems with quenched disorder. In this paper we thoroughly examine the structure of these theories based on their symmetry properties. Our analysis is model-independent and holds for any spacetime dimension. Our results include a determination of the general form of correlation functions and conformal block decompositions, clearing the path for future bootstrap applications. Several examples are discussed in detail, including logarithmic generalized free fields, holographic models, self-avoiding random walks and critical percolation.

  7. Overlapping illusions by transformation optics without any negative refraction material

    Science.gov (United States)

    Sun, Fei; He, Sailing

    2016-01-01

    A novel method to achieve an overlapping illusion without any negative refraction index material is introduced with the help of the optic-null medium (ONM) designed by an extremely stretching spatial transformation. Unlike the previous methods to achieve such an optical illusion by transformation optics (TO), our method can achieve a power combination and reshape the radiation pattern at the same time. Unlike the overlapping illusion with some negative refraction index material, our method is not sensitive to the loss of the materials. Other advantages over existing methods are discussed. Numerical simulations are given to verify the performance of the proposed devices.

  8. Any light particle search II. Technical Design Report

    Energy Technology Data Exchange (ETDEWEB)

    Baehre, Robin [Albert Einstein Institute, Hannover (Germany); Doebrich, Babette; Dreyling-Eschweiler, Jan [Deutsches Elektronen-Synchrotron, Hamburg (Germany); and others

    2013-02-15

    This document constitutes an excerpt of the Technical Design Report for the second stage of the ''Any Light Particle Search'' (ALPS-II) at DESY as submitted to the DESY PRC in August 2012 and reviewed in November 2012. ALPS-II is a ''Light Shining through a Wall'' experiment which searches for photon oscillations into weakly interacting sub-eV particles. These are often predicted by extensions of the Standard Model and motivated by astrophysical phenomena. The first phases of the ALPS-II project were approved by the DESY management on February 21st, 2013.

  9. IS THERE ANY ASSOCIATION BETWEEN MATERNAL DEPRESSION AND BIOPHYSICAL PROFILE?

    Directory of Open Access Journals (Sweden)

    M Z Pezeshki

    2008-11-01

    Full Text Available "nMother's mental health status during pregnancy has important effects on fetal growth and development. However, there are few studies concerning association of maternal depression and biophysical profile (BPP of the fetus. We performed this research to know if maternal depression has any association with fetal BPP score. For measuring depression, Farsi version of Patient Health Questionnaire-9 (PHQ-9 was completed. A total of 100 pregnant women in their third trimester (>24 weeks who had not hyperthyroidism, hypothyroidism, eclampsia and preeclampsia, fever, infection, diabetes or a fetus with intrauterine growth retardation (IUGR and were not using any medication entered the study. Spearman correlation coefficient between the score of PHQ-9 questionnaire and BPP score was -0.08 (P = 0.43. Based on Kruskal Wallis test, there was no difference in BPP score of depressed and nondepressed women (P = 0.65. We found no relationship between maternal depression and BPP score in third trimester of pregnancy. Further studies for elucidating neuro-hormonal mechanisms related to the result of our study are suggested

  10. Obesity and orthodontic treatment: is there any direct relationship?

    Directory of Open Access Journals (Sweden)

    Alberto Consolaro

    Full Text Available ABSTRACT Obesity is a wide-spread condition directly or indirectly connected with an increase in the prevalence of a variety of human diseases. It affects over 50% of the western overall population. In 2017, a thorough analysis of 204 studies on obesity and cancer revealed that the condition increases the risk of the following types of cancer: stomach, colon, rectal, bile duct, pancreatic, esophagus, breast, endometrial, ovarian, kidney and multiple myeloma. The first study aiming at establishing a connection between obesity and the rate of induced orthodontic tooth movement was conducted by Saloom et al; however, it could not effectively nor significantly reveal any direct influence or effect. Despite being identified during the first week, differences could not be explained and treatment time remained unchanged. In spite of lack of studies in the literature on the connection between obesity and the rate of induced tooth movement, in clinical practice, courses or specialized training, we should not have protocols changed nor adopt any measures or expect significant differences between normal-weight and obese individuals. It should be emphasized that unsuccessful cases or cases of root resorption associated with treatment should not be assigned to obesity, since scientific data is insufficient to do so.

  11. Tratamento do lagoftalmo paralítico com a utilização do implante de peso de ouro recoberto pela aponeurose do músculo levantador palpebral Paralytic lagophthalmos treatment with gold weight implants covered by levator palpebrae muscle aponeurosis

    Directory of Open Access Journals (Sweden)

    Sergio Lessa

    2009-02-01

    Full Text Available OBJETIVO: Demonstrar a redução das complicações e melhora do resultado estético da correção do lagoftalmo paralítico com utilização de implantes de peso ouro através do recobrimento pela aponeurose do músculo levantador palpebral. MÉTODOS:Foram estudados vinte e nove pacientes portadores de paralisia facial idiopática com evolução clínica superior a 4 anos submetidos à correção cirúrgica do lagoftalmo paralítico com a utilização de uma modificação da técnica do implante de peso de ouro recoberto pela aponeurose do músculo levantador palpebral (Gladstone,1996 entre junho de 1997 e dezembro de 2006. Nenhum deles havia se submetido previamente a tratamentos cirúrgicos. RESULTADOS:Todos os pacientes apresentaram adaptação favorável dos implantes. Não houve casos de extrusão, deslocamento ou infecção, com melhora significativa da sintomatologia clínica e redução do lagoftalmo paralítico no período de acompanhamento pós-operatório que variou de 8 meses a 4 anos. CONCLUSÃO:Através da ampla dissecção da aponeurose do músculo levantador palpebral para recobrimento completo do implante do peso de ouro nós obtivemos excelentes resultados. O contorno da superfície cutânea pré-tarsal apresentou-se homogêneo, evitou-se a extrusão do implante e, comparativamente aos resultados apresentados pela técnica inicialmente descrita por Gladstone na qual realizava-se apenas a plicatura da aponeurose do músculo levantador palpebral sobre o implante de ouro, obtivemos um melhor controle do posicionamento final da pálpebra superior após o recobrimento do implante.POURPOSE: To demonstrate an improvement in paralytic lagophthalmos surgical treatment complications and aesthetic results by covering the gold weight implants with the levator palpebrae muscle aponeurosis. METHODS:We studied a case series of twenty nine patients presenting idiopatic facial palsy with more than 4 years of clinical evolution, submitted to

  12. Anorectal Disorders

    Science.gov (United States)

    Rao, Satish S. C.; Bharucha, Adil E.; Chiarioni, Giuseppe; Felt-Bersma, Richelle; Knowles, Charles; Malcolm, Allison; Wald, Arnold

    2016-01-01

    This report defines criteria and reviews the epidemiology, pathophysiology, and management of the following common anorectal disorders: fecal incontinence (FI), functional anorectal pain, and functional defecation disorders. FI is defined as the recurrent uncontrolled passage of fecal material for at least 3 months. The clinical features of FI are useful for guiding diagnostic testing and therapy. Anorectal manometry and imaging are useful for evaluating anal and pelvic floor structure and function. Education, antidiarrheals, and biofeedback therapy are the mainstay of management; surgery may be useful in refractory cases. Functional anorectal pain syndromes are defined by clinical features and categorized into 3 subtypes. In proctalgia fugax, the pain is typically fleeting and lasts for seconds to minutes. In levator ani syndrome and unspecified anorectal pain, the pain lasts more than 30 minutes, but in levator ani syndrome there is puborectalis tenderness. Functional defecation disorders are defined by ≥2 symptoms of chronic constipation or irritable bowel syndrome with constipation, and with ≥2 features of impaired evacuation, that is, abnormal evacuation pattern on manometry, abnormal balloon expulsion test, or impaired rectal evacuation by imaging. It includes 2 subtypes: dyssynergic defecation and inadequate defecatory propulsion. Pelvic floor biofeedback therapy is effective for treating levator ani syndrome and defecatory disorders. PMID:27144630

  13. 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.

  14. Nevoid basal cell carcinoma syndrome

    Science.gov (United States)

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

  15. Steve Jobs provides lessons for any medical practice.

    Science.gov (United States)

    Ornstein, Hal; Baum, Neil

    2013-01-01

    Steve Jobs is inarguably the greatest inventor and creative genius since Thomas Edison. He provided technology that enhances communication on a global level. Jobs also provided ideas and suggestions that could work in any medical practice regardless of the size of the practice, the location of the practice, or the employment model. His advice can be transferred from a high-tech business that employs thousands to a high-touch medical practice that has only a few employees. This article will list a few of Jobs leadership characteristics and how they might apply to physicians, their teams, and their practices. Wouldn't you like to be the Steve Jobs of healthcare? If so, read on!

  16. Design control and scientific investigations: Is there any linkage?

    International Nuclear Information System (INIS)

    Richards, R.R.

    1995-01-01

    The quality assurance requirements that apply to the effort to achieve safe transportation, storage, and disposal of high-level nuclear waste specify that ''design control'' be applied to design activities. That effort also involves extensive scientific investigation activities to, among other things, develop information that may be used in engineering design activities. Individuals who are charged with the implementation of such quality assurance requirements have come to a variety of conclusions about whether there is any firm linkage between design control and the conduct of scientific investigations. This paper contends that there is a reasonable and necessary linkage between ''design control'' and scientific activities, though not a connection that has traditionally been made and not one addressed in the QA standards for radioactive waste management programs

  17. Self-folding origami at any energy scale

    Science.gov (United States)

    Pinson, Matthew B.; Stern, Menachem; Carruthers Ferrero, Alexandra; Witten, Thomas A.; Chen, Elizabeth; Murugan, Arvind

    2017-05-01

    Programmable stiff sheets with a single low-energy folding motion have been sought in fields ranging from the ancient art of origami to modern meta-materials research. Despite such attention, only two extreme classes of crease patterns are usually studied; special Miura-Ori-based zero-energy patterns, in which crease folding requires no sheet bending, and random patterns with high-energy folding, in which the sheet bends as much as creases fold. We present a physical approach that allows systematic exploration of the entire space of crease patterns as a function of the folding energy. Consequently, we uncover statistical results in origami, finding the entropy of crease patterns of given folding energy. Notably, we identify three classes of Mountain-Valley choices that have widely varying `typical' folding energies. Our work opens up a wealth of experimentally relevant self-folding origami designs not reliant on Miura-Ori, the Kawasaki condition or any special symmetry in space.

  18. Spectral irradiance curve calculations for any type of solar eclipse

    International Nuclear Information System (INIS)

    Deepak, A.; Merrill, J.E.

    1974-01-01

    A simple procedure is described for calculating the eclipse function (EF), alpha, and hence the spectral irradiance curve (SIC), (1-alpha), for any type of solar eclipse: namely, the occultation (partial/total) eclipse and the transit (partial/annular) eclipse. The SIC (or the EF) gives the variation of the amount (or the loss) of solar radiation of a given wavelength reaching a distant observer for various positions of the moon across the sun. The scheme is based on the theory of light curves of eclipsing binaries, the results of which are tabulated in Merrill's Tables, and is valid for all wavelengths for which the solar limb-darkening obeys the cosine law: J = /sub c/(1 - X + X cost gamma). As an example of computing the SIC for an occultation eclipse which may be total, the calculations for the March 7, 1970, eclipse are described in detail. (U.S.)

  19. Spontaneous remission of hepatocellular carcinoma without any treatment

    Directory of Open Access Journals (Sweden)

    Shao-Ciao Luo

    2016-12-01

    A 61 year old asymptomatic woman visited our outpatient clinic (OPC with a high alpha-fetal protein (AFP level. A computed tomogram (CT revealed a 4.1 cm hypervascular tumor (arterial phase at S4 of the liver and washed out in venous phase. Her Hepatitis B Surface Antigen (HBsAg was negative and Hepatitis C Antibody (anti-HCV was positive. This patient also had esophageal varices. She refused any treatment and returned to our OPC about 2 years later. Her AFP level was 11.8 ng/ml. The following CT scan revealed a small amount of cirrhosis, but no mass, in the liver, so that spontaneous remission of HCC was determined. She was treated by oral diuretics. Here we report the case and review of literature.

  20. How to diagnose any type of TLD Reader?

    International Nuclear Information System (INIS)

    Rodriguez, Manuel Lopez; Garcia, Jose A. Tamayo; Gil, Alex Vergara; Lores, Stefan Gutierrez; Acosta, Andry Romero; Villanueva, Gilberto Alonso

    2013-01-01

    The acquisition of know how of practical experiences obtained in the repair and maintenance of readers TLD RADOS for five years of work and the request by the International Atomic Energy for signing new Research Contracts (CRP), made possible the CRP 13328, in which the specialist is committed in the course of a year, to deliver educational software in order to train personnel associated with the operation of the TLD readers RADOS. Due to the importance of continuous transfer of knowledge for new generations of technicians and specialists who join our laboratories, the idea came when the first interactive CD that grouped 19 videos, divided into three blocks was ready: learning, repair and maintenance; it was suggested to expand the training for any TLD reader. Thus a much more complete than the first version package emerged. 7 cases were subsequently published in an IAEA TECDOC, 1599 were included

  1. Nutcracker syndrome

    International Nuclear Information System (INIS)

    Jolley, Ingrid

    2014-01-01

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

  2. 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.

  3. Usher Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Fakin

    2012-06-01

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

  4. Stylocarotid syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Petrović Branko

    2008-01-01

    Full Text Available INTRODUCTION The American otolaryngologist Eagle was the first to describe styloid syndrome in 1937 and the syndrome was named after him (Eagle's syndrome. The original description of two separate syndromes is connected with his name: classical syndrome, which almost constantly occurs after tonsillectomy and carotid artery syndrome, which occurs without tonsillectomy and also in cases when stylohyoid complex compresses the carotid segments and perivascular sympathetic fibers. In the following years, two more syndromes were defined: stylohyoid and pseudostylohyoid, which according to their manifestations, correspond to the genuine classical form. CASE OUTLINE A 40-year old male is presented, with a history of 3-year duration of pains in the upper part of the left side of the neck, in the left eye and its surroundings. Pain occurrences were not regular. Throbbing pains were most often provoked by sudden head movements and neck compression. He was healthy until the onset of these problems. The findings of all examinations were normal. The applied prophylactic therapy, typical for cluster headache, was without any effect. On 64-MSCT (multislice computed tomography, the neck arteries did not show any intraluminal pathology. The styloid processes were of normal length. On the left side, the styloid process tip pressed the internal carotid artery disturbing its longitudinal axis. CONCLUSION In our presentation, the defined lengths of the styloid processes were normal. The medial angulation of the left styloid process was more expressed reaching 63.5 degrees (the right side angulation was normal. Persistent and throbbing pain in the region of the left eye with backward projection suggested compression on the internal carotid artery. Pains were most frequently provoked by head turning and neck compression. 64-MSCT diagnostics enabled us to determine the characteristics of styloid processes and their relation to the internal carotid artery. Improvement

  5. Eagle's Syndrome

    Science.gov (United States)

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

    2013-01-01

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

  6. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

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

  7. Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome?

    NARCIS (Netherlands)

    Wittebol-Post, D.; Hennekam, R. C.

    1993-01-01

    A father and two sons with blepharophimosis, ptosis, polythelia and brachydactyly are presented, apparently without other abnormalities. The features do not fit into any previously described syndrome. This condition may represent a hitherto undescribed syndrome, although resemblance with the

  8. Rapunzel syndrome

    International Nuclear Information System (INIS)

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

    2006-01-01

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

  9. 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.

  10. 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.

  11. Eagle syndrome

    International Nuclear Information System (INIS)

    Raina, Deepika; Gothi, Rajesh; Rajan, Sriram

    2009-01-01

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

  12. 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

  13. Fenton's syndrome

    International Nuclear Information System (INIS)

    Rimondi, E.; Albasini, V.

    1989-01-01

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

  14. Reiter's Syndrome.

    Science.gov (United States)

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

    1979-01-01

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

  15. Larsen syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Mahbubul Islam

    2016-08-01

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

  16. Joubert syndrome

    International Nuclear Information System (INIS)

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

    1998-01-01

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

  17. 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.

  18. Meigs' Syndrome

    International Nuclear Information System (INIS)

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

    2006-01-01

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

  19. [Elsberg syndrome].

    Science.gov (United States)

    Nielsen, Kristine Esbjerg; Knudsen, Troels Bygum

    2013-12-16

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

  20. Trigeminal trophic syndrome

    Directory of Open Access Journals (Sweden)

    Parimalam Kumar

    2014-01-01

    Full Text Available Trigeminal trophic syndrome (TTS is a rare cause of facial ulceration, consequent to damage to the trigeminal nerve or its central sensory connections. We reporta case of TTS in a 48-year-old woman with Bell′s palsy following herpes zoster infection. The patient was treated and counseled. There hasnot been any recurrence for 1 year and the patient is being followed-up. The diagnosis of TTS should be suspected when there is unilateral facial ulceration, especially involving the ala nasi associated with sensory impairment.

  1. Compartment syndrome without pain!

    LENUS (Irish Health Repository)

    O'Sullivan, M J

    2012-02-03

    We report the case of a young male patient who underwent intra-medullary nailing for a closed, displaced mid-shaft fracture of tibia and fibula. He was commenced on patient controlled analgesia post-operatively. A diagnosis of compartment syndrome in the patient\\'s leg was delayed because he did not exhibit a pain response. This ultimately resulted in a below-knee amputation of the patient\\'s leg. We caution against the use of patient controlled analgesia in any traumatised limb distal to the hip or the shoulder.

  2. CROUZON SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Debdas

    2015-07-01

    Full Text Available Crouzon’s Syndrome is a rare autosomal dominant disorder. Normally, the sutures in the human skull fuse after the complete growth of the brain. But, if any of these sutures closes early then it may interfere with the growth of the brain. Premature sutural fusion most commonly involves sagittal suture followed by coronal suture. We report a case of 6 - year - old male child presented with characteristic features of Crouzon’s syndrome. Diagnosis was made on the basis of clinical and radiological findings.

  3. The Perception of Cooperativeness Without Any Visual or Auditory Communication.

    Science.gov (United States)

    Chang, Dong-Seon; Burger, Franziska; Bülthoff, Heinrich H; de la Rosa, Stephan

    2015-12-01

    Perceiving social information such as the cooperativeness of another person is an important part of human interaction. But can people perceive the cooperativeness of others even without any visual or auditory information? In a novel experimental setup, we connected two people with a rope and made them accomplish a point-collecting task together while they could not see or hear each other. We observed a consistently emerging turn-taking behavior in the interactions and installed a confederate in a subsequent experiment who either minimized or maximized this behavior. Participants experienced this only through the haptic force-feedback of the rope and made evaluations about the confederate after each interaction. We found that perception of cooperativeness was significantly affected only by the manipulation of this turn-taking behavior. Gender- and size-related judgments also significantly differed. Our results suggest that people can perceive social information such as the cooperativeness of other people even in situations where possibilities for communication are minimal.

  4. The Perception of Cooperativeness Without Any Visual or Auditory Communication

    Directory of Open Access Journals (Sweden)

    Dong-Seon Chang

    2015-12-01

    Full Text Available Perceiving social information such as the cooperativeness of another person is an important part of human interaction. But can people perceive the cooperativeness of others even without any visual or auditory information? In a novel experimental setup, we connected two people with a rope and made them accomplish a point-collecting task together while they could not see or hear each other. We observed a consistently emerging turn-taking behavior in the interactions and installed a confederate in a subsequent experiment who either minimized or maximized this behavior. Participants experienced this only through the haptic force-feedback of the rope and made evaluations about the confederate after each interaction. We found that perception of cooperativeness was significantly affected only by the manipulation of this turn-taking behavior. Gender- and size-related judgments also significantly differed. Our results suggest that people can perceive social information such as the cooperativeness of other people even in situations where possibilities for communication are minimal.

  5. Apathy in Alzheimer’s Disease: Any Effective Treatment?

    Directory of Open Access Journals (Sweden)

    Raffaele Rea

    2014-01-01

    Full Text Available Objective. This review has evaluated the effectiveness of pharmacological treatment of apathy in patients with Alzheimer’s disease (AD. Methods. A systematic literature search was conducted on published clinical trials assessing the effects of pharmacological treatment on apathy in AD over the last 10 years. Results. Fourteen studies considered of good quality were included in the analysis (4 randomized controlled trials, 9 open-label studies, and 1 retrospective analysis. Cholinesterase inhibitors were investigated in 9 studies, monoaminergic compounds such as methylphenidate and modafinil in two trials and one trial, respectively, and Ginkgo biloba (EGb 761 extract and citalopram in one study each. Cholinesterase inhibitors did not show statistical significant effect in 1 RCT study but were associated to improvement in 3 open-label studies. Methylphenidate elicited a small but significant activity accompanied by relevant side effects such as high blood pressure, cough, and osteoarticular pain. EGb 761 was well tolerated and countered apathy. Other treatments induced modest improvements or were ineffective. Conclusions. Apathy treatment remains a challenge and there is no evident advantage of any specific pharmacotherapy tested so far. The development of controlled studies according to updated guidelines for the diagnosis of apathy in patients with AD is desirable.

  6. An automated system for assessing cognitive function in any environment

    Science.gov (United States)

    Wesnes, Keith A.

    2005-05-01

    The Cognitive Drug Research (CDR) computerized assessment system has been in use in worldwide clinical trials for over 20 years. It is a computer based system which assesses core aspects of human cognitive function including attention, information, working memory and long-term memory. It has been extensively validated and can be performed by a wide range of clinical populations including patients with various types of dementia. It is currently in worldwide use in clinical trials to evaluate new medicines, as well as a variety of programs involving the effects of age, stressors illnesses and trauma upon human cognitive function. Besides being highly sensitive to drugs which will impair or improve function, its utility has been maintained over the last two decades by constantly increasing the number of platforms upon which it can operate. Besides notebook versions, the system can be used on a wrist worn device, PDA, via tht telephone and over the internet. It is the most widely used automated cognitive function assessment system in worldwide clinical research. It has dozens of parallel forms and requires little training to use or administer. The basic development of the system wil be identified, and the huge databases (normative, patient population, drug effects) which have been built up from hundreds of clinical trials will be described. The system is available for use in virtually any environment or type of trial.

  7. The WIPP transportation system -- ''Safer than any other''

    International Nuclear Information System (INIS)

    Ward, T.R.; Spooner, R.

    1991-01-01

    The Department of Energy (DOE) has developed an integrated transportation system to transport transuranic (TRU) waste from ten widely dispersed generator sites to the Waste Isolation Pilot Plant (WIPP). The system consists of a Type B container, a specially designed trailer, a lightweight tractor, the DOE TRANSCOM satellite-based vehicle tracking system, and uniquely qualified and highly trained drivers. The DOE has demonstrated that this system is ready to transport the TRU waste to the WIPP site efficiently and safely. Since the system was put in place in November 1988, it has been repeatedly upgraded and enhanced to incorporate additional safety measures. In June of 1989, the National Academy of Sciences (NAS) reviewed the transportation system and concluded that ''the system proposed for transportation of TRU waste to WIPP is safer than that employed for any other hazardous material in the United States today and will reduce risk to very low levels'' (emphasis added). The NAS conclusion was made before the DOE implemented the Enhanced Driver Training Course for carrier drivers. The challenge facing the DOE was to examine the transportation system objectively and determine what additional improvements could be made to further enhance safety

  8. On any Saturday--a practical model for diabetes education.

    Science.gov (United States)

    Carter, Inge R; Nash, Creshelle; Ridgway, Andrea

    2002-02-01

    Patient self-management is an important part of treating chronic diseases. However, many primary care physicians face barriers in offering office-based diabetes education. This paper will discuss a practical program of community-based diabetes education that can be easily modified for a practitioner's office. Half-day diabetes education workshops geared toward local health care providers and patients with diabetes and their families were conducted in two rural communities in Arkansas. Participants were surveyed with respect to the effectiveness of the program and how they would use what they learned in the program. Thirty-one health care providers and 59 patients with diabetes and their families attended. Program evaluation scores were between 4.1 and 5 on a 5-point Likert scale. One third of the patients commented that they had a better understanding of diet and medication use. Feedback from community health care providers noted that attendance in local diabetes support groups increased after the workshops. Diabetes complications have a large impact on the health of the population and a growing economic impact on the health care industry. Although there are many barriers to diabetes education and control, a practical half-day diabetes workshop on any Saturday can be effectively developed and implemented.

  9. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

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

    2009-01-01

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

  10. Tourette Syndrome: Update.

    Science.gov (United States)

    Hallett, Mark

    2015-08-01

    Tourette Syndrome is a disorder characterized by tics. It typically begins in childhood and often improves in adult life. Tics are best described as voluntary movements made automatically so that volition is not ordinarily appreciated. There is frequently an urge, sometimes in the form of a specific sensory feeling (sensory tic), that precedes the tic. Patients say that they make the tic in order to reduce the urge, although shortly after the tic, the urge recurs. The sensory feeling may arise due to defective sensory habituation. Since tics relieve the urge, this can be considered rewarding, and repetition of this behavior may perpetuate the tic as a habit. Tourette Syndrome affects boys more than girls and is associated with attention deficit hyperactivity disorder and obsessive compulsive disorder. Although Tourette Syndrome often appears to be autosomal recessive in inheritance, it has been difficult to find any abnormal genes. There is a loss of inhibition in these patients and recent studies show abnormalities in brain GABA. Certainly there is also an abnormality in dopamine function and dopamine blocking agents are effective therapy. In severe drug-refractory patients, deep brain stimulation can be effective. Published by Elsevier B.V.

  11. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

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

  12. Sjogren syndrome

    NARCIS (Netherlands)

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

    2016-01-01

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

  13. 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.

  14. Piriformis Syndrome

    Science.gov (United States)

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

  15. Hellp syndrome

    International Nuclear Information System (INIS)

    Chaudhry, A.A.

    2002-01-01

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

  16. Kartagener's Syndrome.

    Science.gov (United States)

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

    2009-01-01

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

  17. Carraro syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wendler, H.; Schwarz, R.

    1980-07-01

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

  18. 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.…

  19. Alagille Syndrome

    Science.gov (United States)

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

  20. Kounis syndrome

    African Journals Online (AJOL)

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

  1. Crest syndrome

    International Nuclear Information System (INIS)

    Koch, B.; Roedl, W.

    1988-01-01

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

  2. 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

  3. Kartagener's Syndrome

    African Journals Online (AJOL)

    GB

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

  4. EXPERIENCE OF ALPROSTADIL APPLICATION AGAINST RAYNAUD'S SYNDROME AMONG CHILDREN

    Directory of Open Access Journals (Sweden)

    E.I. Alexeeva

    2007-01-01

    Full Text Available The article provides the data on the causes and mechanisms of Raynaud's syndrome development. initial or idiopathic Raynaud's syndrome is characterized by the spasm of the digital arteries and thermoregulatory vessels of skin under the impact of the cold without any signs of vessel lesions. In the event of secondary Raynaud's syndrome, there is combination of Raynaud's syndrome with the symptoms of other diseases. Secondary raynaud's syndrome is most often associated with scleroderma systematica, systemic erythema centrifugum, other rheumatic diseases, hematologic disc orders and intake of some medications. There is also data on the opportunity to apply the synthetic medication prostaglandin е 1 — alprostadil to treat Raynaud's syndrome associated with rheumatic diseases. The given clinical example demonstrates high efficacy of alprostadil in case of the patient, suffering from scleroderma systematica and generalized Raynaud's syndrome.Key words: children, scleroderma systematica, alprostadil, Raynaud's syndrome.

  5. [Williams-Beuren syndrome (Williams syndrome). Case report].

    Science.gov (United States)

    Miklós, Györgyi; Fekete, György; Haltrich, Irén; Tóth, Miklós; Reismann, Péter

    2017-11-01

    Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883-1888.

  6. Has the natural gas fueled bus any future?

    International Nuclear Information System (INIS)

    Riikonen, A.

    2001-01-01

    of both gases are high; RON of methane is 130 and that of propane 110. Neither of these fuels contains sulphur. European natural gas vehicles association ENGVA has estimated that gas-fuelled vehicles will not become in large-scale public use if the price of the fuel is not significantly lower than the present price of automotive fuels. It has been estimated that despite the use the lower taxation of gaseous fuelled vehicles the use will probably never be cheaper than the use of diesels. Investments of natural gas operated busses are 10-20% higher than those of diesel operated busses. Higher price of natural gas operated busses is mainly due to the carbon-fiber-based fuel tanks and the small production series of the vehicle. Calculations show that a natural gas operated bus can pay back the higher price of the vehicle and the increased need for maintenance in ten years if the fuel costs are reduced. In this case the fuel prices should be 2/3 of those of diesel oil. It must also be noticed that a gas-fuelled vehicle requires 20-30% more fuel than a diesel vehicle owing better efficiency. However, the CO 2 emissions of gas-fuelled vehicles are lower. So in order to make the use of gas-fuelled busses profitable they may not have any other tax burdens but ordinary VAT

  7. Autoerythrocyte Sensitization Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Pinar Ozuguz

    2014-04-01

    Full Text Available Autoerythrocyte sensitization syndrome or Gardner-Diamond syndrome is a rare syndrome, characterized by recurrent, spontaneous, painful ecchymosis. The lesions occur particularly after emotional stress or mild trauma. Psychiatric problems are commonly observed in these patients. The lower limbs and the trunk are the most often localizations; however, lesions can appear on any other skin area. It is thought to be a sensitivity to intradermally injected autoerythrocyte. The diagnosis is usually based on typical anamnesis, clinical presentation, absence of specific laboratory changes and positive intradermal test. This syndrome should be considered in the differential diagnosis of purpura, especially in patients with psychiatric problems and without any coagulopathy. Herein, a case of 38 year-old-female who has recurrent ecchymoses on her legs, fatigue, headache and sleeping problems is presented.

  8. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Ebru Yilmaz

    2014-06-01

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

  9. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

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

  10. Apert syndrome

    Directory of Open Access Journals (Sweden)

    Premalatha

    2010-01-01

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

  11. 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.

  12. Paraneoplastiske syndromer

    OpenAIRE

    Røsbekk, Stein Helge

    2007-01-01

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

  13. Caroli's syndrome

    Energy Technology Data Exchange (ETDEWEB)

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

    1986-07-01

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

  14. 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.

  15. 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 ...

  16. [PHACES syndrome].

    Science.gov (United States)

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

    2010-04-01

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

  17. Anserine syndrome.

    Science.gov (United States)

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

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

  18. Neonatal respiratory distress syndrome

    Science.gov (United States)

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

  19. Toxic shock syndrome

    Science.gov (United States)

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

  20. Prune belly syndrome

    Science.gov (United States)

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

  1. What Causes Cushing's Syndrome?

    Science.gov (United States)

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

  2. [The syndrome of Cotard: an overview].

    Science.gov (United States)

    Van den Eynde, F; Debruyne, H; Portzky, M; De Saedeleer, S; Audenaert, K

    2008-01-01

    There is increasing controversy about whether psychiatric illnesses should be divided into categories. One of the reasons is that such a categorial system, by its very nature, cannot provide a detailed description of specific psychopathological symptoms. A patient with Cotard's syndrome, for instance, is characterised by a nihilistic delusion relating to his own body and the syndrome does not fit into any one category. We report on a case of Cotard's syndrome encountered at our clinic. To provide an overview of the characteristics of Cotard's syndrome, including its history, phenomenology, pathogenesis and treatment. A Medline search was conducted for the period 1980-2006 using the search term 'Cotard$'. This resulted in 68 publications, of which 18 were not used. Cross-references were used as well. Cotard's syndrome cannot be fitted unambiguously into any one category of the current classification system. Current evidence regarding Cotard's syndrome is based mainly on case studies and therefore no clarity can be obtained about the various aspects of the syndrome, such as prevalence, pathogenesis, treatment.

  3. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

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

  4. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

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

  5. Gut Microbioma Population: An Indicator Really Sensible to Any Change in Age, Diet, Metabolic Syndrome, and Life-Style

    Directory of Open Access Journals (Sweden)

    Noce Annalisa

    2014-01-01

    Full Text Available Obesity has become a pandemic threat in the latest 30 years. The trend of the prevalence of overweight and obesity has got an overall increase in every part of the world, regardless of ethnicity, life-style and social ties. High food intake, genetic, and sedentary have been related to obesity; it has been also hypothesized that gut microbiota could have an impact on the complex mechanism underlying the weight gain. This review aims to illustrate the actual literature about gut microbiota and its relation with obesity and to analyze the possible implications of factors such as diet and life-style onto the composition of gut microbiota, that can lead to overweight/obesity condition.

  6. Gut microbioma population: an indicator really sensible to any change in age, diet, metabolic syndrome, and life-style.

    Science.gov (United States)

    Annalisa, Noce; Alessio, Tarantino; Claudette, Tsague Djoutsop; Erald, Vasili; Antonino, De Lorenzo; Nicola, Di Daniele

    2014-01-01

    Obesity has become a pandemic threat in the latest 30 years. The trend of the prevalence of overweight and obesity has got an overall increase in every part of the world, regardless of ethnicity, life-style and social ties. High food intake, genetic, and sedentary have been related to obesity; it has been also hypothesized that gut microbiota could have an impact on the complex mechanism underlying the weight gain. This review aims to illustrate the actual literature about gut microbiota and its relation with obesity and to analyze the possible implications of factors such as diet and life-style onto the composition of gut microbiota, that can lead to overweight/obesity condition.

  7. Functional disorders of the anus and rectum

    OpenAIRE

    Whitehead, W; Wald, A; Diamant, N; Enck, P; Pemberton, J; Rao, S

    1999-01-01

    In this report the functional anorectal disorders, the etiology of which is currently unknown or related to the abnormal functioning of normally innervated and structurally intact muscles, are discussed. These disorders include functional fecal incontinence, functional anorectal pain, including levator ani syndrome and proctalgia fugax, and pelvic floor dyssynergia. The epidemiology of each disorder is defined and discussed, their pathophysiology is summarized and diagnostic approaches and tr...

  8. Acute nephritic syndrome

    Science.gov (United States)

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

  9. Anorectal and Pelvic Pain.

    Science.gov (United States)

    Bharucha, Adil E; Lee, Tae Hee

    2016-10-01

    Although pelvic pain is a symptom of several structural anorectal and pelvic disorders (eg, anal fissure, endometriosis, and pelvic inflammatory disease), this comprehensive review will focus on the 3 most common nonstructural, or functional, disorders associated with pelvic pain: functional anorectal pain (ie, levator ani syndrome, unspecified anorectal pain, and proctalgia fugax), interstitial cystitis/bladder pain syndrome, and chronic prostatitis/chronic pelvic pain syndrome. The first 2 conditions occur in both sexes, while the latter occurs only in men. They are defined by symptoms, supplemented with levator tenderness (levator ani syndrome) and bladder mucosal inflammation (interstitial cystitis). Although distinct, these conditions share several similarities, including associations with dysfunctional voiding or defecation, comorbid conditions (eg, fibromyalgia, depression), impaired quality of life, and increased health care utilization. Several factors, including pelvic floor muscle tension, peripheral inflammation, peripheral and central sensitization, and psychosocial factors, have been implicated in the pathogenesis. The management is tailored to symptoms, is partly supported by clinical trials, and includes multidisciplinary approaches such as lifestyle modifications and pharmacological, behavioral, and physical therapy. Opioids should be avoided, and surgical treatment has a limited role, primarily in refractory interstitial cystitis. Copyright © 2016 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  10. Cutaneous and mucosal pain syndromes

    Directory of Open Access Journals (Sweden)

    Siddappa K

    2002-01-01

    Full Text Available The cutaneous and mucosal pain syndromes are characterized by pain, burning sensation, numbness or paraesthesia of a particular part of the skin or mucosal surface without any visible signs. They are usually sensory disorders, sometimes with a great deal of psychologic overlay. In this article various conditions have been listed and are described. The possible causative mechanisms are discussed when they are applicable and the outline of their management is described.

  11. [Psychosocial approach to Diogenes syndrome].

    Science.gov (United States)

    Furtos, Jean

    2015-01-01

    Abnormal hoarding of random items in the home associated with severe self-neglect and neglect of one's environment, Diogenes syndrome is transnosographic. It can affect all social classes, people without any diagnosed mental health condition or patients with psychosis or dementia, over 60s and young people. It is conveyed by self-exclusion at home, a "poor precarity" which leads to a loss of the ability to trust others and ask for help.

  12. Burning mouth syndrome: An update

    OpenAIRE

    Vijay Kumar Ambaldhage; Jaishankar Homberhalli Puttabuddi; Purnachandrarao Naik Nunsavath

    2015-01-01

    Burning mouth syndrome (BMS) is characterized by an oral burning sensation in the absence of any organic disorders of the oral cavity. Although the cause of BMS is not known, a complex association of biological and psychological factors has been identified, suggesting the existence of a multifactorial etiology. It is observed principally in middle-aged patients and postmenopausal women and is characterized by an intense burning type of pain, preferably on the tongue and in other areas of the ...

  13. CUBOID SYNDROME: A REVIEW OF THE LITERATURE

    Directory of Open Access Journals (Sweden)

    Stephen M. Patterson

    2006-12-01

    Full Text Available The purpose of this review was to inform all medical health care professionals about cuboid syndrome, which has been described as difficult to recognize and is commonly misdiagnosed, by explaining the etiology of this syndrome, its clinical diagnosis in relation to differential diagnoses, commonly administered treatment techniques, and patient outcomes. A comprehensive review of the relevant literature was conducted with MEDLINE, EBSCO, and PubMed (1960 - Present using the key words cuboid, cuboid syndrome, foot anatomy, tarsal bones, manual therapy, and manipulation. Medical professionals must be aware that any lateral foot and ankle pain may be the result of cuboid syndrome. Once properly diagnosed, cuboid syndrome responds exceptionally well to conservative treatment involving specific cuboid manipulation techniques. Other methods of conservative treatment including therapeutic modalities, therapeutic exercises, padding, and low dye taping techniques are used as adjuncts in the treatment of this syndrome. Immediately after the manipulation is performed, the patient may note a decrease or a complete cessation of their symptoms. Occasionally, if the patient has had symptoms for a longer duration, several manipulations may be warranted throughout the course of time. Due to the fact radiographic imaging is of little value, the diagnosis is largely based on the patient's history and a collection of signs and symptoms associated with the condition. Additionally, an understanding of the etiology behind this syndrome is essential, aiding the clinician in the diagnosis and treatment of this syndrome. After the correct diagnosis is made and a proper treatment regimen is utilized, the prognosis is excellent

  14. 42 CFR 137.4 - May Title V be construed to limit or reduce in any way the funding for any program, project, or...

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 1 2010-10-01 2010-10-01 false May Title V be construed to limit or reduce in any way the funding for any program, project, or activity serving an Indian Tribe under this or other... General Provisions § 137.4 May Title V be construed to limit or reduce in any way the funding for any...

  15. ROHHAD Syndrome: The Girl who Forgets to Breathe.

    Science.gov (United States)

    Sanklecha, Mukesh; Sundaresan, Suba; Udani, Vrajesh

    2016-04-01

    ROHHAD syndrome is an exceedingly rare cause of central hypoventilation. A 7-year-old girl with ROHHAD syndrome who had central hypoventilation, rapid weight gain, multiple cardiac arrests and hyperprolactinemia. She required prolonged and repeated ventilation, and finally died due to complications of ventilation. ROHHAD Syndrome should be suspected in any child who presents with obesity, behavioral changes or autonomic instability following a neural crest tumor.

  16. 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

  17. 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

  18. Robinow syndrome

    Directory of Open Access Journals (Sweden)

    Suresh S

    2008-01-01

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

  19. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

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

    1982-11-01

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

  20. 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.

  1. 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.

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

    Science.gov (United States)

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

    2014-11-01

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

  3. Lowe syndrome

    Directory of Open Access Journals (Sweden)

    Loi Mario

    2006-05-01

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

  4. Cotard Syndrome.

    Science.gov (United States)

    Dieguez, Sebastian

    2018-01-01

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

  5. 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.

  6. Elsberg syndrome

    Science.gov (United States)

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

    2017-01-01

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

  7. 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 (

  8. Efficacy of syndromic management measured as symptomatic improvement in females with vaginal discharge syndrome.

    Science.gov (United States)

    Chauhan, Vidyalaxmi; Shah, Maitri C; Patel, Sangita V; Marfatia, Yogesh S; Zalavadiya, Dhara

    2016-01-01

    In spite of a few shortcomings such as over diagnosis and over treatment, syndromic management is a recommended practice in India for sexually transmitted infections (STIs). This study tries to find out the efficacy of syndromic management measured as symptomatic improvement in females with vaginal discharge syndrome. The objective of the study is to find out the effectiveness of syndromic management in terms of symptomatic improvement among females with vaginal discharge syndrome. A longitudinal study was conducted in Gynecology Department of Tertiary Care Hospital including 180 symptomatic females having vaginal discharge syndrome. Demographic profile, presenting complaints, menstrual history, obstetric history, partner history, and contraceptive history were noted. This was followed by clinical examination and specimen collection for laboratory tests and blood tests to find out type of STI including viral STI such as human immunodeficiency virus (HIV), herpes simplex virus (HSV), and hepatitis B surface antigen (HBsAg). Treatment was given according to syndromic management on the same day. All the participants were asked to come for follow-up after 15 days and their improvement in symptoms was noted as complete improvement, some improvement or no improvement on a five point scale. 63.9% cases showed complete improvement, while 36.1% showed some improvement. None of the patients was without any improvement. Vaginal discharge syndrome was most common between 20 and 30 years (43.4%), and 67.8% of symptomatic females with vaginal discharge syndrome belonged to the lower socioeconomic group. HSV infection was the most common (15%) associated viral infection with vaginal discharge syndrome, while hepatitis B infection was the least common (0.5%). HIV was reactive in 2.8% cases only. Syndromic management was found to be effective in relieving symptoms in most of the cases of vaginal discharge syndrome.

  9. Marfan Syndrome (For Parents)

    Science.gov (United States)

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

  10. Burnout Syndrome of Teachers

    OpenAIRE

    Semrádová, Michaela

    2013-01-01

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

  11. Turner Syndrome (For Teens)

    Science.gov (United States)

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

  12. Speech Timing and Verbal Short-Term Memory: Evidence for Contrasting Deficits in Down Syndrome and Williams Syndrome

    Science.gov (United States)

    Jarrold, Christopher; Cowan, Nelson; Hewes, Alexa K.; Riby, Deborah M.

    2004-01-01

    This study explored the degree of verbal short-term memory deficit among individuals with Down syndrome and Williams syndrome, and the extent to which any such impairment could be accounted for by a relative slowing of rehearsal and output processes. Measures of serial recall and detailed assessments of speeded articulation for short and long…

  13. Burning mouth syndrome: etiology.

    Science.gov (United States)

    Cerchiari, Dafne Patrícia; de Moricz, Renata Dutra; Sanjar, Fernanda Alves; Rapoport, Priscila Bogar; Moretti, Giovana; Guerra, Marja Michelin

    2006-01-01

    The Burning Mouth Syndrome (BMS) is an oral mucosa pain--with or without inflammatory signs--without any specific lesion. It is mostly observed in women aged 40-60 years. This pain feels like a moderate/severe burning, and it occurs more frequently on the tongue, but it may also be felt at the gingiva, lips and jugal mucosa. It may worsen during the day, during stress and fatigue, when the patient speaks too much, or through eating of spicy/hot foods. The burning can be diminished with cold food, work and leisure. The goal of this review article is to consider possible BMS etiologies and join them in 4 groups to be better studied: local, systemic, emotional and idiopathic causes of pain. Knowing the different diagnoses of this syndrome, we can establish a protocol to manage these patients. Within the local pain group, we must investigate dental, allergic and infectious causes. Concerning systemic causes we need to look for connective tissue diseases, endocrine disorders, neurological diseases, nutritional deficits and salivary glands alterations that result in xerostomia. BMS etiology may be of difficult diagnosis, many times showing more than one cause for oral pain. A detailed interview, general physical examination, oral cavity and oropharynx inspection, and lab exams are essential to avoid a try and error treatment for these patients.

  14. Clinical Evaluation of a Proposed New Gulf War Syndrome

    National Research Council Canada - National Science Library

    Levine, Paul

    2001-01-01

    Thus far, studies on Gulf War veterans have not defined any syndrome specific to deployed Gulf War veterans, but have only suggested that Persian Gulf War veterans have a higher frequency of a number...

  15. Understanding Bartter syndrome and Gitelman syndrome.

    Science.gov (United States)

    Fremont, Oliver T; Chan, James C M

    2012-02-01

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

  16. Superior Mesenteric Artery Syndrome or Wilkie Syndrome

    International Nuclear Information System (INIS)

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

    2009-01-01

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

  17. Functional abdominal pain syndrome.

    Science.gov (United States)

    Clouse, Ray E; Mayer, Emeran A; Aziz, Qasim; Drossman, Douglas A; Dumitrascu, Dan L; Mönnikes, Hubert; Naliboff, Bruce D

    2006-04-01

    Functional abdominal pain syndrome (FAPS) differs from the other functional bowel disorders; it is less common, symptoms largely are unrelated to food intake and defecation, and it has higher comorbidity with psychiatric disorders. The etiology and pathophysiology are incompletely understood. Because FAPS likely represents a heterogeneous group of disorders, peripheral neuropathic pain mechanisms, alterations in endogenous pain modulation systems, or both may be involved in any one patient. The diagnosis of FAPS is made on the basis of positive symptom criteria and a longstanding history of symptoms; in the absence of alarm symptoms, an extensive diagnostic evaluation is not required. Management is based on a therapeutic physician-patient relationship and empirical treatment algorithms using various classes of centrally acting drugs, including antidepressants and anticonvulsants. The choice, dose, and combination of drugs are influenced by psychiatric comorbidities. Psychological treatment options include psychotherapy, relaxation techniques, and hypnosis. Refractory FAPS patients may benefit from a multidisciplinary pain clinic approach.

  18. [Syndrome X vs metabolic syndrome].

    Science.gov (United States)

    Morales Villegas, Enrique

    2006-01-01

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

  19. Waardinburg syndrome — inherited deafness with pigmentary involvement

    Directory of Open Access Journals (Sweden)

    M.F. Macrae

    1979-09-01

    Full Text Available The Waardenburg syndrome was first clearly defined in 1951. The major clinical importance lies in the fact that about 20% of affected individuals are deaf. Furthermore, because the condition is inherited autosomal dominantly, there is a risk of the disorder being handed down from generation to generation. The syndrome consists of six major features which may appear in any combination and to any degree in the affected individual.

  20. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

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

  1. Antithyroid Arthritis Syndrome: A Case Report and Review of the Literature

    Science.gov (United States)

    Takaya, Kazuhiko; Kimura, Natsumi; Hiyoshi, Toru

    2016-01-01

    We herein report the case of a 38-year-old Japanese woman with antithyroid arthritis syndrome who experienced severe migratory polyarthritis after the initiation of thiamazole therapy. The patient's symptoms promptly disappeared without any sequelae after the withdrawal of the drug. Antithyroid arthritis syndrome is poorly characterized, and the findings from our literature review indicate that this syndrome exhibits serological features that are distinct from those of antithyroid agent-induced vasculitis syndrome. The absence of autoantibodies, especially anti-neutrophil cytoplasmic antibodies, may help characterize and diagnose antithyroid arthritis syndrome. Furthermore, physicians' awareness of this syndrome is essential for its diagnosis in clinical practice. PMID:27980264

  2. Gorlin's syndrome.

    Science.gov (United States)

    Ramsden, R T; Barrett, A

    1975-06-01

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

  3. HEPATORENAL SYNDROME

    Directory of Open Access Journals (Sweden)

    Matjaž Hafner

    2001-12-01

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

  4. Acute irradiation syndrome : radiation disease

    International Nuclear Information System (INIS)

    Mestries, J.C.; Multon, E.

    1995-01-01

    It is classically assumed that the symptomatology of the acute radiation syndrome is mainly due to stem and progenitor cells death in compartimentalized tissues, particularly in bone marrow and intestine. Our observations on baboons, irradiated with a mixed neutron/gamma or a gamma radiation, showed that the whole organism response plays a major role. There is an inflammatory syndrome, not only during the prodromal phase, but also a second one, that precedes and accompanies the manifest-illness phase. This inflammatory syndrome was associated with coagulation disorders which are largely responsible for bleeding. This syndrome makes the therapeutic approach more complicated since some cytokines, which could be able to improve the hematopoietic cells recovery (e.g. IL-6), exhibit pro-inflammatory activities as well. Regarding radiobiological triage, no biological marker has a prognosis value during the first days following a radiation exposure, for those individuals exposed to around a LD50. On the contrary, some inflammation markers allow to anticipate a fatal issue, without any treatment, as early as the beginning of the manifest-illness phase. (authors). 10 refs., 11 figs

  5. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

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

  6. Neuroimaging experience in pediatric Horner syndrome

    International Nuclear Information System (INIS)

    Kadom, Nadja; Rosman, N.P.; Jubouri, Shams; Trofimova, Anna; Egloff, Alexia M.; Zein, Wadih M.

    2015-01-01

    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.)

  7. 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.)

  8. [Apheresis in antiphospholipid syndrome (APS)].

    Science.gov (United States)

    De Silvestro, Giustina; Tison, Tiziana; Marson, Piero

    2012-01-01

    Antiphospholipid syndrome (APS) is a rare clinical disorder characterized by thromboembolic manifestations and/or obstetric complications. Along with the clinical symptoms and signs, serum antiphospholipid antibodies have to be detected. APS can be primary, i.e., without any concomitant disorders, or secondary to other autoimmune diseases, particularly systemic lupus erythematosus. Criteria for the diagnosis of APS have been clearly established. Hyperacute APS (or catastrophic antiphospholipid syndrome), often with a poor prognosis, must meet four criteria: involvement of three or more organs, rapid evolution of clinical manifestations, microangiopathic occlusion of small blood vessels at biopsy, and presence of antiphospholipid antibodies. The rationale for apheresis treatment is the removal of pathogenetic antibodies involved in the development of tissue damage. Our experience includes 23 patients, in particular 15 women treated for 19 pregnancies. According to the National Guidelines Program, the effectiveness of apheresis in catastrophic syndrome has a level of evidence of V/VI, with a strength of recommendation A; in highrisk pregnancy it has a level of evidence of V with a strength of recommendation B. It will be necessary to better define the prognosis of various categories of pregnant patients with APS, as well as useful laboratory parameters to monitor its clinical course and anticipate any complications of pregnancy.

  9. Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb A

    2008-10-01

    Full Text Available Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 μmol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. Conclusion We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  10. Prune belly syndrome in an Egyptian infant with Down syndrome: a case report.

    Science.gov (United States)

    Metwalley, Kotb A; Farghalley, Hekma S; Abd-Elsayed, Alaa A

    2008-10-02

    Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 mumol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  11. The Chinese restaurant syndrome: an anecdote revisited.

    Science.gov (United States)

    Kenney, R A

    1986-04-01

    The Chinese Restaurant Syndrome arose from an anecdote of discomfort experienced after eating Chinese cuisine. Monosodium glutamate has been implicated as the causative agent. Work over the past 17 years has consistently failed to reveal any objective sign accompanying the transient sensations that some individuals experience after the experimental ingestion of monosodium glutamate and it is questionable whether the term 'Chinese Restaurant Syndrome' has any validity. When some common food materials are used in the same experimental setting, similar symptoms can be produced in a limited number of people. Double-blind testing of individuals who identify themselves as suffering the 'syndrome' has failed to confirm the role of monosodium glutamate as the provocative agent.

  12. Polycystic Ovarian Syndrome: Diagnosis and Management

    OpenAIRE

    Sheehan, Michael T.

    2004-01-01

    Polycystic ovarian syndrome (PCOS) affects 4% to 12% of women of reproductive age. The lack of well-defined diagnostic criteria makes identification of this common disease confusing to many clinicians. Also, with the varied manifestations of the disorder a patient may present to any one of several providers: an internist, family practitioner, nurse practitioner, pediatrician, gynecologist, dermatologist, or endocrinologist. Furthermore, the most distressing aspect of PCOS for any given patien...

  13. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

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

  14. Therapeutic intervention in disseminated intravascular coagulation: have we made any progress in the last millennium?

    NARCIS (Netherlands)

    Levi, Marcel; de Jonge, Evert; van der Poll, Tom

    2002-01-01

    Disseminated intravascular coagulation (DIC) is a syndrome characterized by systemic intravascular activation of coagulation, leading to widespread deposition of fibrin in the circulation. Recent knowledge on important pathogenetic mechanisms that may lead to DIC has resulted in novel preventive and

  15. Burning mouth syndrome: An update

    Directory of Open Access Journals (Sweden)

    Vijay Kumar Ambaldhage

    2015-01-01

    Full Text Available Burning mouth syndrome (BMS is characterized by an oral burning sensation in the absence of any organic disorders of the oral cavity. Although the cause of BMS is not known, a complex association of biological and psychological factors has been identified, suggesting the existence of a multifactorial etiology. It is observed principally in middle-aged patients and postmenopausal women and is characterized by an intense burning type of pain, preferably on the tongue and in other areas of the oral mucosa. As the symptom of oral burning is seen in various pathological conditions, it is essential for a clinician to be aware of how to differentiate between symptom of oral burning and BMS. This article provides an overview of the literature on this syndrome with special reference to the etiological factors, clinical aspects, diagnostic criteria that should be followed and the therapeutic management with reference to the most recent studies.

  16. Burning mouth syndrome: A review

    Directory of Open Access Journals (Sweden)

    Rajendra G Patil

    2017-01-01

    Full Text Available Burning mouth syndrome is a condition characterized by chronic orofacial pain without any mucosal abnormalities or other organic disease. There are numerous synonyms for this ailment such as stomatodynia, stomatopyrosis, glossodynia, glossopyrosis, sore mouth, sore tongue, oral dysesthesia, and scalding mouth syndrome. Patients usually present with burning, stinging, or numbness on the tongue or other areas of oral mucosa. The complex etiology and lack of characteristic signs and symptoms makes the diagnosis difficult. As a result of which managing such patients become a herculean task. Moreover, lack of understanding of the disease leads to misdiagnosis and unnecessary referral of patients. In this article, the authors have described the etiopathogenesis, diagnostic algorithm and management of this confusing ailment.

  17. Gitelman syndrome

    Directory of Open Access Journals (Sweden)

    Levtchenko Elena N

    2008-07-01

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

  18. 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.

  19. Major congenital anomalies in babies born with Down syndrome

    DEFF Research Database (Denmark)

    Morris, Joan K; Garne, Ester; Wellesley, Diana

    2014-01-01

    Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed...... to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down...... syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were...

  20. [Etiologic spectrum of solitary constitutional syndrome].

    Science.gov (United States)

    Hernández Hernández, J L; Matorras Galán, P; Riancho Moral, J A; González-Macías, J

    2002-07-01

    To know the spectrum of diseases responsible for the solitary constitutional syndrome in our setting. This syndrome was defined as a clinical picture characterized by the presence of asthenia, anorexia, and weight loss of at least 5% of body weight in the last six months, not associated with any other symptom or sign suggesting the diagnosis of an organ or system disease. All patients diagnosed of the solitary constitutional syndrome (328) in a tertiary-care level teaching hospital between January 1991 and December 1996. Fifty-two (170) percent of patients with solitary constitutional syndrome were males and 48% (158) females. The mean age was 65.4%, ranging from 15 to 97 years. The average of the monthly estimated weight loss was 3 to 4 kilograms. A total of 115 (35%) malignant neoplasms and 5 (1.5%) benign tumors were diagnosed. The most common malignant tumors corresponded to the digestive tract (51.3% of the total malignant tumors). The second cause in frequency of the solitary constitutional syndrome corresponded to psychiatric diseases, with a total of 80 patients (24.3%). A total of 116 non-neoplastic organic diseases were detected, with digestive tract diseases --mainly peptic disease-- being the most common cause in this group. After follow-up, only in twenty cases were we unable to detect the underlying disease responsible for the syndrome. In nine of these, the solitary constitutional syndrome was self-limited. Forty-four percent of patients had at least another concomitant disease and in 24% of patients more than one associated condition was found. The most common diseases responsible for the solitary constitutional syndrome were, by decreasing frequency, malignant tumors, psychiatric disorders, and non-malignant organic diseases located in the digestive tract. A better knowledge of the etiological spectrum of this syndrome might be useful for a more efficient management of these patients.

  1. New concept of functional anorectal disorders. In relation to newly published ROME III

    International Nuclear Information System (INIS)

    Takano, Masahiro

    2007-01-01

    In newly published Rome III, Functional anorectal disorders are divided into 7 disorders. F1 Functional fecal incontinence is divided into staining, soiling, seepage and leakage in the degree and urge and passive incontinences in the dynamics, of which the former is dysfunction of the rectum and the latter of the anus. For the treatment, the most effective is biofeedback therapy (BF). F2 Functional anorectal pain is divided into F2a Chronic proctalgia, F2a1 Levator ani syndrome, F2a2 Unspecified functional anorectal pain and F2b Proctalgia fugax. F2a1 Levator ani syndrome is defined as a pain caused by traction of the levator ani, but in my experience, only 4 (3.5%) among 116 cases accorded to the criteria making us dubious of the definition. As for F2b Proctalgia fugax, the cause has not yet been found. In these two F2a, various treatments are tried without significant effectiveness due perhaps to the unknown pathogenesis which I assume to be the neuralgia of pudendal nerve. F3 Functional defecation disorders consist of F3a Dyssynergic defecation and F3b Inadequate defecatory propulsion of which, the former is caused by paradoxical contraction or inadequate relaxation of the pelvic floor muscles and the latter caused by inadequate propulsive force in defecation. Their treatments are BF and defecatory enforcement. (author)

  2. 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

  3. Pseudohypopituitary syndromes.

    Science.gov (United States)

    Heinze, E; Holl, R W

    1992-07-01

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

  4. Hepatorenal syndrome.

    Science.gov (United States)

    Papper, S

    1980-01-01

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

  5. Terlipressin for hepatorenal syndrome

    DEFF Research Database (Denmark)

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

    2012-01-01

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

  6. 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 ...

  7. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

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

  8. Hermansky-Pudlak syndrome

    Directory of Open Access Journals (Sweden)

    Preena A

    2017-04-01

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

  9. Marfan syndrome (image)

    Science.gov (United States)

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

  10. Acute respiratory distress syndrome

    Science.gov (United States)

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

  11. Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

    Science.gov (United States)

    Nkrumah, F K

    1971-03-01

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

  12. Guillain-Barre Syndrome

    Science.gov (United States)

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

  13. Carpal Tunnel Syndrome

    Science.gov (United States)

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

  14. Polycystic Ovary Syndrome

    Science.gov (United States)

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

  15. Hyperimmunoglobulin E syndrome

    Science.gov (United States)

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

  16. Holmes-Adie Syndrome

    Science.gov (United States)

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

  17. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

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

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

  18. Tics and Tourette Syndrome

    Science.gov (United States)

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

  19. Down Syndrome (For Kids)

    Science.gov (United States)

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

  20. Hantavirus Pulmonary Syndrome (HPS)

    Science.gov (United States)

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

  1. Ramsay Hunt syndrome

    Science.gov (United States)

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

  2. Moebius Syndrome Foundation

    Science.gov (United States)

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

  3. Burning Mouth Syndrome

    Science.gov (United States)

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

  4. Neuroleptic Malignant Syndrome

    Science.gov (United States)

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

  5. Skin Peeling Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma Rajeev

    2000-01-01

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

  6. The wellness syndrome

    DEFF Research Database (Denmark)

    Mik-Meyer, Nanna

    2015-01-01

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

  7. Burnout Syndrome During Residency.

    Science.gov (United States)

    Turgut, Namigar; Karacalar, Serap; Polat, Cengiz; Kıran, Özlem; Gültop, Fethi; Kalyon, Seray Türkmen; Sinoğlu, Betül; Zincirci, Mehmet; Kaya, Ender

    2016-10-01

    The aim of this study is identified the degree of Burnout Syndrome (BOS) and find out its correlation with years of recidency and sociodemograpfic chareacteristics, training, sleeping habits, such as smoking and alcohol consumption. After approval from the Hospital Ethics Committee and obtaining informed consent, First, second, third, fourth and fifth year of recidency staff (n=127) working in our hospital were involved in this study. The standardized Maslach Burnout Inventory (MBI) was used in this study. Fifty six male (44.1%) and seventy one female (55.9%) residents were enroled in this study (Coranbach Alfa(α)=0.873). 57% of the first year residents smokes cigaret and 54% of them use alcohol. 2% of them gets one day off after hospital night shift, 61% of them suffers from disturbed sleep. 60% of them had been stated that they willingly selected their profession. 61% of them prefers talking to friends and 32% of them prefers shopping to overcome stress. There were statistical difference acording to years of recidency in MBI, Emotional Burnout (EB) and desensitisation scale (DS) points. EB scale points of the second year of residency group was statisticaly higher than fourth year of residency group. DS points of second year of residency group was also statisticaly higher than the third and fourth year of residency group. There was no statistical difference between any groups in Personal Success. BOS is a frequent problem during residency in anaesthesia. Appropriate definition and awareness are the first important steps to prevent this syndrome. Further administrative approaches should be evaluated with regard to their effects.

  8. PRES syndrome

    International Nuclear Information System (INIS)

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

    2010-01-01

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

  9. Postthrombotic syndrome.

    Science.gov (United States)

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

    2006-10-01

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

  10. Cardio-renal syndrome

    OpenAIRE

    Gnanaraj, Joseph; Radhakrishnan, Jai

    2016-01-01

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

  11. Facts about Down Syndrome

    Science.gov (United States)

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

  12. Gorlin-goltz syndrome

    International Nuclear Information System (INIS)

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

    2007-01-01

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

  13. Sjogren-Larsson Syndrome

    Science.gov (United States)

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

  14. Cushing's syndrome during pregnancy

    NARCIS (Netherlands)

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

    1990-01-01

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

  15. Polycystic Ovary Syndrome FAQ

    Science.gov (United States)

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

  16. Diagnostik af Dravet syndrom

    DEFF Research Database (Denmark)

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

    2010-01-01

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

  17. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Souhami Filho, L.

    1985-01-01

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

  18. DIDMOAD (Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Masoud Nashibi

    2016-07-01

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

  19. Hyperperfusion syndrome after carotid stent angioplasty

    Energy Technology Data Exchange (ETDEWEB)

    Grunwald, I.Q.; Politi, M.; Reith, W.; Krick, C.; Karp, K.; Zimmer, A.; Struffert, T.; Kuehn, A.L.; Papanagiotou, P. [University of the Saarland, Department for Interventional and Diagnostic Neuroradiology, Homburg (Germany); Roth, C.; Haass, A. [University of the Saarland, Clinic for Neurology, Homburg (Germany)

    2009-03-15

    This study assesses the incidence and causes of hyperperfusion syndrome occurring after carotid artery stenting (CAS). We retrospectively reviewed the clinical database of 417 consecutive patients who were treated with CAS in our department to identify patients who developed hyperperfusion syndrome and/or intracranial hemorrhage. Magnetic resonance imaging (MRI) including fluid-attenuated inversion recovery and diffusion-weighted imaging was performed before and after CAS in 269 cases. A Spearman's rho nonparametric correlation was performed to determine whether there was a correlation between the occurrence/development of hyperperfusion syndrome and the patient's age, degree of stenosis on the stented and contralateral side, risk factors such as diabetes, smoking, hypertension, adiposity, gender and fluoroscopy time, and mean area of postprocedural lesions as well as preexisting lesions. Significance was established at p < 0.05. Of the 417 carotid arteries stented and where MRI was also completed, we found hyperperfusion syndrome in 2.4% (ten cases). Patients who had preexisting brain lesions (previous or acute stroke) were at a higher risk of developing hyperperfusion syndrome (p = 0.022; Spearman's rho test). We could not validate any correlation with the other patient characteristics. Extensive microvascular disease may be a predictor of hyperperfusion syndrome after carotid stent placement. We believe that further studies are warranted to predict more accurately which patients are at greater risk of developing this often fatal complication. (orig.)

  20. Metabolic syndrome pathophysiology and clinical presentation.

    Science.gov (United States)

    Handelsman, Yehuda

    2009-01-01

    Metabolic syndrome is a relatively new definition, designed to help the health care practitioner to easily identify people at risk for the development of cardiovascular disease and diabetes. With the obesity epidemic, we are witnessing an epidemic of multiple-risk patients. Insulin resistance is the perceived pathophysiology of metabolic syndrome and defines its clinical presentation. Hypertension, dyslipedemia, polycystic ovarian syndrome, fatty liver disease, pre-diabetes, sleep and breathing disorder, certain cancers, and cognitive impairment are many of the presentations of the syndrome; patients with any of these conditions are at a high risk of developing cardiovascular disease and diabetes. The metabolic syndrome helps identify people at risk to allow early intervention for prevention. Lifestyle modification is the most important part of the management of people with the syndrome. Lately medications--though none approved by the U.S. Food and Drug Administration (FDA)--have been recommended by major medical societies when lifestyle modification is not enough or when it fails.

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

    Science.gov (United States)

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

    2016-06-01

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

  2. Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome.

    Science.gov (United States)

    Sundelin, Heléne E K; Stephansson, Olof; Johansson, Kari; Ludvigsson, Jonas F

    2017-01-01

    An increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected. In this nationwide cohort study from 1997 through 2011, women with either joint hypermobility syndrome or Ehlers-Danlos syndrome or both disorders were identified through the Swedish Patient Register, and linked to the Medical Birth Register. Thereby, 314 singleton births to women with joint hypermobility syndrome/Ehlers-Danlos syndrome before delivery were identified. These births were compared with 1 247 864 singleton births to women without a diagnosis of joint hypermobility syndrome/Ehlers-Danlos syndrome. We used logistic regression, adjusted for maternal age, smoking, parity, and year of birth, to calculate adjusted odds ratios for adverse pregnancy outcomes. Maternal joint hypermobility syndrome/Ehlers-Danlos syndrome was not associated with any of our outcomes: preterm birth (adjusted odds ratio = 0.6, 95% confidence interval 0.3-1.2), preterm premature rupture of membranes (adjusted odds ratio = 0.8; 95% confidence interval 0.3-2.2), cesarean section (adjusted odds ratio = 0.9, 95% confidence interval 0.7-1.2), stillbirth (adjusted odds ratio = 1.1, 95% confidence interval 0.2-7.9), low Apgar score (adjusted odds ratio = 1.6, 95% confidence interval 0.7-3.6), small for gestational age (adjusted odds ratio = 0.9, 95% confidence interval 0.4-1.8) or large for gestational age (adjusted odds ratio = 1.2, 95% confidence interval 0.6-2.1). Examining only women with Ehlers-Danlos syndrome (n = 62), we found a higher risk of induction of labor (adjusted odds ratio = 2.6; 95% confidence interval 1.4-4.6) and amniotomy (adjusted odds ratio = 3.8; 95% confidence interval 2.0-7.1). No excess risks for adverse pregnancy outcome were seen in joint hypermobility syndrome. Women with joint hypermobility syndrome/Ehlers-Danlos syndrome do not seem to be at increased risk of adverse pregnancy outcome. © 2016 Nordic Federation of

  3. Roberts-SC phocomelia syndrome.

    Science.gov (United States)

    Maheshwari, A; Kumar, P; Dutta, S; Narang, A

    2001-06-01

    A severely growth retarded baby was born at 38 weeks gestation. He had multiple craniofacial anomalies, microbrachycephaly, phocomelia in the upper limbs and renal cysts visible on ultrasound. He died of recurrent apneas. The autopsy showed left sided multicystic dysplastic kidney and absence of one testis. Cytogenetic studies did not reveal any abnormality. The phenotypic features match those described in the Roberts-SC phocomelia syndrome. A literature review revealed that 50% of these patients have chromosomal defects and antenatal detection is possible on ultrasound and by chromosome analysis of the amniocytes.

  4. Refeeding Syndrome: A Literature Review

    Directory of Open Access Journals (Sweden)

    L. U. R. Khan

    2011-01-01

    Full Text Available Refeeding syndrome (RFS describes the biochemical changes, clinical manifestations, and complications that can occur as a consequence of feeding a malnourished catabolic individual. RFS has been recognised in the literature for over fifty years and can result in serious harm and death. Crude estimates of incidence, morbidity, and mortality are available for specific populations. RFS can occur in any individual but more commonly occurs in at-risk populations. Increased awareness amongst healthcare professionals is likely to reduce morbidity and mortality. This review examines the physiology of RFS and describes the clinical manifestations. A management strategy is described. The importance of a multidisciplinary approach is emphasized.

  5. Refeeding Syndrome: A Literature Review

    Science.gov (United States)

    Khan, L. U. R.; Ahmed, J.; Khan, S.; MacFie, J.

    2011-01-01

    Refeeding syndrome (RFS) describes the biochemical changes, clinical manifestations, and complications that can occur as a consequence of feeding a malnourished catabolic individual. RFS has been recognised in the literature for over fifty years and can result in serious harm and death. Crude estimates of incidence, morbidity, and mortality are available for specific populations. RFS can occur in any individual but more commonly occurs in at-risk populations. Increased awareness amongst healthcare professionals is likely to reduce morbidity and mortality. This review examines the physiology of RFS and describes the clinical manifestations. A management strategy is described. The importance of a multidisciplinary approach is emphasized. PMID:20886063

  6. A case of subwakefulness syndrome.

    Science.gov (United States)

    Hisanaga, A; Tsutsumi, M; Yasui, S; Fukuda, H; Tachibana, H; Hagino, H; Okabe, A; Mita, T; Saitoh, O; Kurachi, M

    1998-04-01

    We report a patient, a 30-year-old male Japanese-Brazilian migrant construction worker, suffering from excessive daytime sleepiness for at least 6 months. Electroencephalogram recordings during his waking states showed that 10-Hz and 60-microV alpha activity was present prominently in the occipital regions. From the multiple sleep latency test, it was found that stages 1-2 NREM sleep episodes appeared repetitively without any REM episodes, and that the mean sleep latency was 10.2 min. These findings support the diagnosis that this patient suffers from subwakefulness syndrome.

  7. A case of possible Kounis syndrome as a complication of scombroid syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Rusconi

    2017-11-01

    Full Text Available Kounis syndrome is defined as the concurrence of acute coronary syndromes such as coronary spasm or acute myocardial infarction with conditions associated with activation of inflammatory mediators such histamine, arachidonic acid and various cytokines and chemokines. Recently, a variety of unusual etiologies have been reported, including scombroid syndrome. We present a case of a woman without previous history of cardiac diseases or cardiovascular risk factors, who presented to emergency department after the onset of flushing, asthenia, palpitations, burning sensation in the mouth having just eaten tuna. The electrocardiogram revealed a sinus tachycardia with diffuse ST segment depression. After therapy, in a short time symptoms recovered and a second electrocardiogram no longer showed any ST changes. These electrocardiographic changes observed in our case were probably due to transitory coronary vasospasm as described in type I variant of Kounis syndrome.

  8. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar

    2012-01-01

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

  9. 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

  10. Abdominal compartment syndrome with acute reperfusion syndrome

    International Nuclear Information System (INIS)

    Maleeva, A.

    2017-01-01

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

  11. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    Directory of Open Access Journals (Sweden)

    Mohammad Sarraf

    2011-01-01

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

  12. Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)--a new autoinflammatory syndrome distinct from PAPA syndrome.

    Science.gov (United States)

    Braun-Falco, Markus; Kovnerystyy, Oleksandr; Lohse, Peter; Ruzicka, Thomas

    2012-03-01

    PAPA syndrome is a recently identified hereditary autoinflammatory syndrome clinically characterized by pyogenic arthritis, severe acne, and pyoderma gangrenosum. It is caused by mutations in the PSTPIP1 gene and may be closely linked to the aseptic abscesses syndrome, which has been shown to be associated with CCTG repeat amplification in the promoter region of PSTPIP1. We describe two unrelated patients with a clinical presentation quite similar to, yet distinct from, PAPA syndrome. Both patients had pyoderma gangrenosum and acute or remittent acne conglobata, but, in contrast to PAPA syndrome, lacked any episodes of pyogenic arthritis. Instead, they had suppurative hidradenitis. Mutations in PSTPIP1 exons 1 to 15 were excluded. In the promoter region, an increased repetition of the CCTG microsatellite motif was present on one allele in both patients. Alterations of the most commonly affected exons of the MEFV, NLRP3, and TNFRSF1A genes also were not detectable. One patient was treated with the interleukin (IL)-1 receptor antagonist anakinra and responded well, although without complete remission. This implies that IL-1ß may be of pathogenetic importance. Small number of patients, no gene mutation identified, and unclear efficacy of therapy are limitations. The clinical triad of pyoderma gangrenosum, acne, and suppurative hidradenitis represents a new disease entity within the spectrum of autoinflammatory syndromes, similar to PAPA and aseptic abscesses syndrome. For this disease, we propose the acronym "PASH" syndrome. PASH syndrome may respond to IL-1ß blockade. Copyright © 2011 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  13. The communication as a tool of any policy of risk prevention

    International Nuclear Information System (INIS)

    Deboodt, P.

    2001-01-01

    This report gives the characteristics of any communication and any prevention policy. Several examples are given to illustrate the different ways of communicating, their benefits, their limits and the development linked to the new technologies. (N.C.)

  14. Genetics Home Reference: Marfan syndrome

    Science.gov (United States)

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

  15. Adie's syndrome: some new observations.

    Science.gov (United States)

    Thompson, H S

    1977-01-01

    Adie's syndrome is a disease of unknown etiology. We known where the damage is, and which nerves are involved. We even know something of how the nerves react after the damage is done, but we don't known what causes the primary injury. The first step in working a jigsaw puzzle is to getall of the pieces right side up and take a good look at them. Some of the jigsaw pieces handled in this paper are listed below. Some of them are new observations; many of them are old concepts, partly modified and partly made secure by new facts. 1. Not all "tonic pupils" are due to "Adie's syndrome"; some are due to local injury and some to a generalized peripheral neuropathy (Table II). 2. All patients should have serologic tests for shyphilis. In this series one in six had positive serology. 3. The incidence of Adie's syndrome in Iowa in the early 1970's was approximately 4.7 per 100,000 population per year. 4. The prevalence of Adie's syndrome, therefore, was approximately 2 per 1000. 5. The mean age of onset of Adie's syndrome was about 32.2 years (Figure 1A). 6. The sex ratio was 2.6 females to each male. 7. Right eyes and left eyes were involved at approximately the same rate (Figure 2). 8. The incidence of second eye involvement in unilateral cases was about 4% per year during the first decade of the disease (Figure 18). 9. If this rate of second eye involvement (4% per year) persists during subsequent decades, then most Adie's pupils will eventually become bilateral. 10. The incidence of Adie's syndrome in a largely caucasian patient group is independent of iris color (Figure 4). 11. Only 10% of patients with Adie's syndrome had completely normal muscle stretch reflexes. 12. The muscle stretch reflexes in the arms were just as frequently imparied as those in th elegs, but the degree of impariment tended to be more severe in the ankles and triceps. 13. When there was any light reaction remaining in an Adie's pupil, a segmental paralysis of the sphincter muscle could be seen

  16. OBSERVATION OF ALPORT SYNDROME IN OBSTETRIC PRACTICE

    Directory of Open Access Journals (Sweden)

    Ольга Сергеевна Тышкевич

    2016-06-01

    Full Text Available The relevance of Alport syndrome as a manifestation of differentiated forms of connective tissue dysplasia is caused by the difficulty of diagnosis, the severity of clinical manifestations and high risk of complications as the underlying disease, since pregnancy and childbirth. Supervision of the pregnant woman with the differentiated form of a displaziya of connecting tissue – Alport's syndrome is presented in original article. Interference of two states – pregnancy and Alport's syndrome is shown. Conclusion. The practicing doctor of any specialty needs to possess full information on a clinical picture and the principles of diagnostics of the DCT forms, on features of influence on the process of a gestation. As importance underestimation the changes of connecting fabric conducts to untimely verification of the diagnosis, inferiority of in due time effective preventive actions, an incorrect choice of tactics of maintaining patients.

  17. 28 CFR 30.13 - May the Attorney General waive any provision of these regulations?

    Science.gov (United States)

    2010-07-01

    ... 28 Judicial Administration 1 2010-07-01 2010-07-01 false May the Attorney General waive any... INTERGOVERNMENTAL REVIEW OF DEPARTMENT OF JUSTICE PROGRAMS AND ACTIVITIES § 30.13 May the Attorney General waive any provision of these regulations? In an emergency, the Attorney General may waive any provision of these...

  18. Syndromic odontogenic keratocyst: A case report and review of literature

    Science.gov (United States)

    Arshad, Fazil

    2016-01-01

    Odontogenic keratocysts (OKCs) may occur in two different forms, either as solitary (nonsyndromic OKCs) or as multiple OKCs (syndromic OKCs). Multiple OKCs usually occur as one of the findings in Gorlin–Goltz syndrome with other features such as skin carcinomas and rib, eye, and neurologic abnormalities. We report a rare case of Gorlin–Goltz syndrome in a 20-year-old male patient who presented with a slow growing swelling on lower right and left back teeth region since 2 months. Apart from these, other findings were frontal bossing, depressed nasal bridge, ocular hypertelorism, prominent supra orbital ridge, and mild mandibular prognathism. Excision was done and microscopic study revealed OKC and the follow-up could not be carried out for the complete management. We also presented a review of its pathogenesis, criterion, and differences between syndromic and nonsyndromic OKCs and suggest to thoroughly examine any patient who presents with multiple OKCs to rule out syndromic variety. PMID:27011939

  19. Imaging by multiple modalities of patients with a carotidynia syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kosaka, Nobuyuki; Uematsu, Hidemasa; Kimura, Hirohiko; Itoh, Harumi [University of Fukui, Department of Radiology, Faculty of Medical Sciences, Fukui (Japan); Sagoh, Tadashi; Noguchi, Masato [Fukui Red Cross Hospital, Department of Radiology, Fukui (Japan); Miyayama, Shiro [Fukuiken Saiseikai Hospital, Department of Diagnostic Radiology, Fukui (Japan)

    2007-09-15

    The purpose of this article is to familiarize readers with the clinical syndrome of carotidynia. In the past, the International Headache Society (IHS) described idiopathic carotidynia as a diagnostic entity consisting of a self-limiting neck pain syndrome and tenderness over the carotid bifurcation without structural abnormality and then recently removed it from its classification. Although the clinical criteria of carotidynia in the former classification of the IHS included the absence of structural abnormality, several publications have demonstrated associated radiological findings and have described the usefulness of radiological investigations in diagnosing this syndrome. In this paper, we report four additional cases with a carotidynia clinical syndrome (according to the former classification) and the presence of abnormal soft tissue infiltration surrounding the symptomatic carotid artery as demonstrated by multiple imaging modalities, without any other underlying cause for the carotid pain syndrome. Our findings support the hypothesis that carotidynia could be a distinct disease entity, possibly caused by inflammation. (orig.)

  20. Imaging by multiple modalities of patients with a carotidynia syndrome

    International Nuclear Information System (INIS)

    Kosaka, Nobuyuki; Uematsu, Hidemasa; Kimura, Hirohiko; Itoh, Harumi; Sagoh, Tadashi; Noguchi, Masato; Miyayama, Shiro

    2007-01-01

    The purpose of this article is to familiarize readers with the clinical syndrome of carotidynia. In the past, the International Headache Society (IHS) described idiopathic carotidynia as a diagnostic entity consisting of a self-limiting neck pain syndrome and tenderness over the carotid bifurcation without structural abnormality and then recently removed it from its classification. Although the clinical criteria of carotidynia in the former classification of the IHS included the absence of structural abnormality, several publications have demonstrated associated radiological findings and have described the usefulness of radiological investigations in diagnosing this syndrome. In this paper, we report four additional cases with a carotidynia clinical syndrome (according to the former classification) and the presence of abnormal soft tissue infiltration surrounding the symptomatic carotid artery as demonstrated by multiple imaging modalities, without any other underlying cause for the carotid pain syndrome. Our findings support the hypothesis that carotidynia could be a distinct disease entity, possibly caused by inflammation. (orig.)

  1. The new Genetico-Racial Skin Classification: How to maximize the safety of any peel or laser treatment on any Asian, Caucasian or Black patient.

    Science.gov (United States)

    Fanous, Nabil; Côté, Valérie; Fanous, Amanda

    2011-01-01

    The popular skin classifications, notably the 'Fitzpatrick' and 'Obaji' classifications, are primarily based on skin colour. Other criteria are occasionally considered, such as the degree of skin oiliness, thickness, sensibility, etc. Although these classifications are easy to understand and apply, their simplicity limits their precision, sophistication and applicability.The new genetico-racial skin classification proposed herein suggests that skin response to any peel or laser treatment is genetically programmed and is, therefore, linked to the genetic and racial origin of the patient. In other words, in addition to skin colour, the patient's facial features and ancestry should be taken into account when classifying any skin.The new genetico-racial skin classification enables the physician to determine with great precision, and before any peel or laser treatment, the level of the patient's suitability and the expected postoperative outcomes; therefore, reducing the likelihood of complications.

  2. Metabolic Syndrome and Cardiovascular Risk Factors after Hematopoietic Cell Transplantation in Severe Mucopolysaccharidosis Type I (Hurler Syndrome).

    Science.gov (United States)

    Braunlin, Elizabeth; Steinberger, Julia; DeFor, Todd; Orchard, Paul; Kelly, Aaron S

    2018-02-01

    Hematopoietic cell transplantation is a life-saving procedure, but one associated with increasing long-term cardiovascular risk requiring frequent long-term follow-up. This therapy has significantly lengthened survival in mucopolysaccharidosis type IH (Hurler syndrome), a disease with known coronary artery involvement. Metabolic syndrome-a constellation of central obesity, high blood pressure, low high-density lipoprotein cholesterol, elevated triglycerides, and fasting blood glucose-is associated with increased cardiovascular risk, and occurs when any 3 or more of these 5 components is present within a single individual. The incidence of metabolic syndrome and its components is poorly defined after transplantation for Hurler syndrome. Chart review of all long-term survivors of hematopoietic cell transplantation for Hurler syndrome ≥9 years of age for factors comprising the metabolic syndrome: obesity, high blood pressure, low high-density lipoprotein cholesterol, elevated triglycerides, and fasting blood glucose. Sixty-three patients were evaluated, 20 of whom had components of the metabolic syndrome available for review. There was no significant difference in age at transplantation, sex, number of transplants, pretransplant radiation, or percent engraftment between those with and without these data. Median follow-up after transplantation for the 20 patients with data was 14.3 years. Only 1 (5%) patient of this group fulfilled the criteria for metabolic syndrome. Fifty-three percent of the patients had 1 or more components of metabolic syndrome: the most common was high blood pressure occurring in 40%. Metabolic syndrome is uncommon in this cohort of long-term survivors of hematopoietic cell transplantation for Hurler syndrome but almost half of the patients had 1 or more components of the syndrome, with high blood pressure being the most common. Further studies are needed to develop guidelines in this diagnosis as well as other nonmalignant diseases of children

  3. Gorlin-goltz syndrome

    Directory of Open Access Journals (Sweden)

    B V Shobha

    2011-01-01

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

  4. Mobius syndrome: MRI features

    International Nuclear Information System (INIS)

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

    2003-01-01

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

  5. [Menopause and metabolic syndrome].

    Science.gov (United States)

    Meirelles, Ricardo M R

    2014-03-01

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

  6. Current Treatment Options in Challenging Oral Diseases: Burning Mouth Syndrome

    OpenAIRE

    Bilgen Erdoğan; Murat Yılmaz

    2012-01-01

    Burning mouth syndrome is a chronic condition characterized by burning pain without any signs of an oral mucosal pathology, that usually affects postmenopausal women. Burning sensation is often accompanied by dysgeusia and xerostomia. The pathogenesis of the disease is unknown and an effective treatment option for most of the patients has not been defined yet. The aim of this review is to present current pharmacological and physicological treatments of burning mouth syndrome.

  7. Current Treatment Options in Challenging Oral Diseases: Burning Mouth Syndrome

    Directory of Open Access Journals (Sweden)

    Bilgen Erdoğan

    2012-12-01

    Full Text Available Burning mouth syndrome is a chronic condition characterized by burning pain without any signs of an oral mucosal pathology, that usually affects postmenopausal women. Burning sensation is often accompanied by dysgeusia and xerostomia. The pathogenesis of the disease is unknown and an effective treatment option for most of the patients has not been defined yet. The aim of this review is to present current pharmacological and physicological treatments of burning mouth syndrome.

  8. Nuclear magnetic resonance tomography in Hallervorden-Spatz's syndrome

    International Nuclear Information System (INIS)

    Vogl, T.; Bauer, M.; Seiderer, M.; Rath, M.

    1984-01-01

    Two patients (mother and son) with Hallervorden-Spatz's syndrome were examined both via CT and Nuclear Magnetic Resonance (NMR), using different measuring modes. In the patient with progressing disease pathological findings were seen in the right and left putamen with CT and NMR. All examinations in the mother with a less progressive syndrome were without any result. Information obtained via NMR did not yield significantly more relevant data than computed tomography. (orig.) [de

  9. Orofacial syndromes: A review

    Directory of Open Access Journals (Sweden)

    N Shyam Sunder

    2011-01-01

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

  10. Steele Richardson Olszewski syndrome

    Directory of Open Access Journals (Sweden)

    Vijayashree S Gokhale

    2013-01-01

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

  11. Metabolic syndrome and menopause

    OpenAIRE

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

    2013-01-01

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

  12. Post cardiac injury syndrome

    DEFF Research Database (Denmark)

    Nielsen, S L; Nielsen, F E

    1991-01-01

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

  13. A seizuring alagille syndrome

    Directory of Open Access Journals (Sweden)

    Jomon Mathew John

    2017-01-01

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

  14. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

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

  15. What Is Antiphospholipid Antibody Syndrome?

    Science.gov (United States)

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

  16. What Is Respiratory Distress Syndrome?

    Science.gov (United States)

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

  17. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

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

  18. Guide to Understanding Pfeiffer Syndrome

    Science.gov (United States)

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

  19. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

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

  20. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

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

  1. Genetics Home Reference: Usher syndrome

    Science.gov (United States)

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

  2. Genetics Home Reference: Bartter syndrome

    Science.gov (United States)

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

  3. Familial cryptic translocation in Angelman syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Weyerts, L.K.; Wiley, J.E.; Loud, K.M. [ECU School of Medicine, Greenville, NC (United States)] [and others

    1994-09-01

    The majority of patients with Angelman syndrome have been shown to have a cytogenetic or molecular deletion on the maternally derived chromosome 15. We report on a case of Angelman syndrome in which this deletion occurs as an unbalanced cryptic translocation involving chromosomes 14 and 15. The proband was diagnosed clinically as having Angelman syndrome. Multiple cytogenetic studies were done without detecting any deletion. When DNA probes (Oncor) specific for the Prader Willi/Angelman locus became available, the patient was restudied and found to be deleted for {open_quotes}region A{close_quotes} (D15S11) but not for {open_quotes}region B{close_quotes} (GABRB3). No other abnormality was detected. The proband`s mother was then studied. The chromosome 15 marker probe and D15S11 were detected on different chromosomes. Using alpha-satellite probes, a cryptic 14;15 translocation was uncovered. This balanced translocation was also found to be carried by the sister of the proband. This case, along with a case presented at the 1993 ASHG meeting, illustrates the need for using acrocentric probes when studying Angelman syndrome patients. The proband was studied using additional probes specific for this region and found to be deleted for SNRPN but not for D15S10. The breakpoint of the translocation in this patient delineates the smallest deletion of the Angelman syndrome region reported to date and therefore may represent the specific gene involved.

  4. MRI of thoracic outlet syndrome in children

    Energy Technology Data Exchange (ETDEWEB)

    Chavhan, Govind B.; Batmanabane, Vaishnavi [The Hospital for Sick Children and University of Toronto, Department of Diagnostic Imaging, Toronto, ON (Canada); Muthusami, Prakash [The Hospital for Sick Children and University of Toronto, Department of Diagnostic Imaging, Toronto, ON (Canada); The Hospital for Sick Children, Division of Image Guided Therapy, Department of Diagnostic Imaging, Toronto, ON (Canada); Towbin, Alexander J. [Cincinnati Children' s Hospital Medical Center, Department of Radiology and Medical Imaging, Cincinnati, OH (United States); Borschel, Gregory H. [The Hospital for Sick Children and University of Toronto, Division of Plastic Surgery, Department of Pediatric Surgery, Toronto, ON (Canada)

    2017-09-15

    Thoracic outlet syndrome is caused by compression of the neurovascular bundle as it passes from the upper thorax to the axilla. The neurovascular bundle can be compressed by bony structures such as the first rib, cervical ribs or bone tubercles, or from soft-tissue abnormalities like a fibrous band, muscle hypertrophy or space-occupying lesion. Thoracic outlet syndrome commonly affects young adults but can be seen in the pediatric age group, especially in older children. Diagnosis is based on a holistic approach encompassing clinical features, physical examination findings including those triggered by various maneuvers, electromyography, nerve conduction studies and imaging. Imaging is performed to confirm the diagnosis, exclude mimics and classify thoracic outlet syndrome into neurogenic, arterial, venous or mixed causes. MRI and MR angiography are useful in this process. A complete MRI examination for suspected thoracic outlet syndrome should include the assessment of anatomy and any abnormalities using routine sequences, vessel assessment with the arms in adduction by MR angiography and assessment of dynamic compression of vessels with abduction of the arms. The purpose of this paper is to describe the anatomy of the thoracic outlet, causes of thoracic outlet syndrome, the MR imaging techniques used in its diagnosis and the principles of image interpretation. (orig.)

  5. MRI of thoracic outlet syndrome in children

    International Nuclear Information System (INIS)

    Chavhan, Govind B.; Batmanabane, Vaishnavi; Muthusami, Prakash; Towbin, Alexander J.; Borschel, Gregory H.

    2017-01-01

    Thoracic outlet syndrome is caused by compression of the neurovascular bundle as it passes from the upper thorax to the axilla. The neurovascular bundle can be compressed by bony structures such as the first rib, cervical ribs or bone tubercles, or from soft-tissue abnormalities like a fibrous band, muscle hypertrophy or space-occupying lesion. Thoracic outlet syndrome commonly affects young adults but can be seen in the pediatric age group, especially in older children. Diagnosis is based on a holistic approach encompassing clinical features, physical examination findings including those triggered by various maneuvers, electromyography, nerve conduction studies and imaging. Imaging is performed to confirm the diagnosis, exclude mimics and classify thoracic outlet syndrome into neurogenic, arterial, venous or mixed causes. MRI and MR angiography are useful in this process. A complete MRI examination for suspected thoracic outlet syndrome should include the assessment of anatomy and any abnormalities using routine sequences, vessel assessment with the arms in adduction by MR angiography and assessment of dynamic compression of vessels with abduction of the arms. The purpose of this paper is to describe the anatomy of the thoracic outlet, causes of thoracic outlet syndrome, the MR imaging techniques used in its diagnosis and the principles of image interpretation. (orig.)

  6. Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis.

    Science.gov (United States)

    Itoh, Masayuki; Iwasaki, Yuji; Ohno, Kohsaku; Inoue, Takehiko; Hayashi, Masaharu; Ito, Shuichi; Matsuzaka, Tetsuo; Ide, Shuhei; Arima, Masataka

    2014-05-01

    We have never known any epidemiological study of Arima syndrome since it was first described in 1971. To investigate the number of Arima syndrome patients and clarify the clinical differences between Arima syndrome and Joubert syndrome, we performed the first nationwide survey of Arima syndrome, and herein report its results. Furthermore, we revised the diagnostic criteria for Arima syndrome. As a primary survey, we sent out self-administered questionnaires to most of the Japanese hospitals with a pediatric clinic, and facilities for persons with severe motor and intellectual disabilities, inquiring as to the number of patients having symptoms of Arima syndrome, including severe psychomotor delay, agenesis or hypoplasia of cerebellar vermis, renal dysfunction, visual dysfunction and with or without ptosis-like appearance. Next, as the second survey, we sent out detailed clinical questionnaires to the institutes having patients with two or more typical symptoms. The response rate of the primary survey was 72.7% of hospitals with pediatric clinic, 63.5% of national hospitals and 66.7% of municipal and private facilities. The number of patients with 5 typical symptoms was 13 and that with 2-4 symptoms was 32. The response rate of the secondary survey was 52% (23 patients). After reviewing clinical features of 23 patients, we identified 7 Arima syndrome patients and 16 Joubert syndrome patients. Progressive renal dysfunction was noticed in all Arima syndrome patients, but in 33% of those with Joubert syndrome. It is sometimes difficult to distinguish Arima syndrome from Joubert syndrome. Some clinicians described a patient with Joubert syndrome and its complications of visual dysfunction and renal dysfunction, whose current diagnosis was Arima syndrome. Thus, the diagnosis of the two syndromes may be confused. Here, we revised the diagnostic criteria for Arima syndrome. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights

  7. Web Untuk Deteksi Dini Tingkat Retardasi Down Syndrome Pada Anak

    OpenAIRE

    Leonita, Christine; Sevani, Nina

    2015-01-01

    Down Syndrome is a condition of physical and mental development's retardation in children that caused by abnormalities in the development of the chromosome. However, behind the special needs held by children with Down syndrome, they have a chance to live like any other normal child.This study aims to create a web-base application that can assist parents to make early detection of the retardation level of Down Syndrome in children, as well as provide information about how to deal with Down Syn...

  8. Antiphospholipid syndrome, antiphospholipid antibodies and solid organ transplantation.

    Science.gov (United States)

    González-Moreno, J; Callejas-Rubio, J L; Ríos-Fernández, R; Ortego-Centeno, N

    2015-11-01

    Antiphospholipid syndrome is considered a high risk factor for any kind of surgery. Considering that all solid organ transplants are critically dependent on the patency of vascular anastomosis, there is much concern about the consequences this pro-thrombotic condition may have on transplantation. Relatively little information is available in the literature assessing the real risk that antiphospholipid syndrome or the presence of antiphospholipid antibodies represent in solid organ transplantation. The aim of this article is to review the literature related to transplantation of solid organs in patients diagnosed with antiphospholipid syndrome or patients with positive antiphospholipid antibodies. © The Author(s) 2015.

  9. A case report of burning mouth syndrome: A diagnostic dilemma

    Directory of Open Access Journals (Sweden)

    Ghassan M Al-Iryani

    2016-01-01

    Full Text Available Oral dysaesthesia syndrome called burning mouth syndrome (BMS causes chronic pain in the orofacial region without presence of any of the detectable organic causes. Common features of BMS are burning sensation in the mouth, xerostomia, dysgeusia, etc. These symptoms ideally show a diurnal pattern, were they are less in the morning and worsen as the day progresses and classically subside at the night time. BMS have multifactorial etiology. This report describes a case of burning mouth syndrome in a 60 year old female patient.

  10. Interventions for the treatment of Frey's syndrome.

    Science.gov (United States)

    Li, Chunjie; Wu, Fanglong; Zhang, Qi; Gao, Qinghong; Shi, Zongdao; Li, Longjiang

    2015-03-17

    Frey's syndrome is a rare disorder, the symptoms of which include sweating, flushing and warming over the preauricular and temporal areas following a gustatory stimulus. It often occurs in patients who have undergone parotidectomy, submandibular gland surgery, radical neck dissection, infection and traumatic injury in the parotid region, and is caused by the aberrant regrowth of facial autonomic nerve fibres. Currently there are several options used to treat patients with Frey's syndrome; for example, the topical application of anticholinergics and antiperspirants, and the intradermal injection of botulinum toxin. It is uncertain which treatment is most effective and safe. To assess the efficacy and safety of different interventions for the treatment of Frey's syndrome. We searched the Cochrane Ear, Nose and Throat Disorders Group Trials Register; the Cochrane Central Register of Controlled Trials (CENTRAL); PubMed; EMBASE; CINAHL; Web of Science; ICTRP and additional sources for published and unpublished trials. The date of the search was 28 April 2014. We included randomised or quasi-randomised controlled trials (RCTs) in participants diagnosed with Frey's syndrome using a clinical standard such as Minor's starch-iodine test. We planned to include trials in which participants received any intervention versus no treatment (observation) or an alternative intervention, with or without a second active treatment. Our primary outcome measures were success rate (as assessed clinically by Minor's starch-iodine test, the iodine-sublimated paper histogram method, blotting paper technique or another method) and adverse events. Our secondary outcome measure was success rate as assessed by patients (disappearance or improvement of symptoms). We used the standard methodological procedures expected by The Cochrane Collaboration. We identified no RCTs or quasi-RCTs that fulfilled the inclusion criteria. Our searches retrieved eight potentially relevant studies, but after

  11. Lesch-Nyhan Syndrome

    Science.gov (United States)

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

  12. SNEDDON’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Valentin Valtchev

    2008-10-01

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

  13. Fragile X syndrome

    Science.gov (United States)

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

  14. [Neurobiology of Tourette Syndrome].

    Science.gov (United States)

    Ünal, Dilek; Akdemir, Devrim

    2016-01-01

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

  15. 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.

  16. Central Pain Syndrome

    Science.gov (United States)

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

  17. Candidate gene association studies in syndromic and non-syndromic cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Daack-Hirsch, S.; Basart, A.; Frischmeyer, P. [Univ. of Iowa, IA (United States)] [and others

    1994-09-01

    Using ongoing case ascertainment through a birth defects registry, we have collected 219 nuclear families with non-syndromic cleft lip and/or palate and 111 families with a collection of syndromic forms. Syndromic cases include 24 with recognized forms and 72 with unrecognized syndromes. Candidate gene studies as well as genome-wide searches for evidence of microdeletions and isodisomy are currently being carried out. Candidate gene association studies, to date, have made use of PCR-based polymorphisms for TGFA, MSX1, CLPG13 (a CA repeat associated with a human homologue of a locus that results in craniofacial dysmorphogenesis in the mouse) and an STRP found in a Van der Woude syndrome microdeletion. Control tetranucleotide repeats, which insure that population-based differences are not responsible for any observed associations, are also tested. Studies of the syndromic cases have included the same list of candidate genes searching for evidence of microdeletions and a genome-wide search using tri- and tetranucleotide polymorphic markers to search for isodisomy or structural rearrangements. Significant associations have previously been identified for TGFA, and, in this report, identified for MSX1 and nonsyndromic cleft palate only (p = 0.04, uncorrected). Preliminary results of the genome-wide scan for isodisomy has returned no true positives and there has been no evidence for microdeletion cases.

  18. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

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

    2011-01-01

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

  19. Metabolic syndrome in acute coronary syndrome

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-06-15

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

  20. Archaeogeophysical Studies in the Ruins of Kars-Ani (Turkey) in the 2009 Excavation Season

    Science.gov (United States)

    Hoskan, Nihan; Ahmet Yuksel, Fethi; Gorucu, Ziya; Coruhlu, Yasar

    2010-05-01

    The Ani ancient city, which is at 48 km distance to Kars (Turkey), is founded at the banks of the Arpacay River flowing in the vicinity of Turkey - Armenia border and is in the borders of Mevcut Ocakli Village. Recent studies show that the first settlement in Ani ancient city could be in the 5th millenium B.C.(Chalcolithic Period) and moreover, there were some buildings built in the Iron and Bronze Period. In the early 9th century, Ashot Msaker, who was Bagratuni dynasty (806-827), declared their first capital city at Bagaran, some 40 km south of Ani, and then transferred it to Kars in the year 929. In 961, King Ashot III (953-977) transferred the capital city from Kars to Ani. Ani expanded during the reign of King Smbat II (977-989). Recent research shows that by the early 11th century the population of Ani was over 100,000. After capture of Ashot, Ani surrendered to Byzantine controlled in 1045. A Greek governor was installed in the city. In 1064 a Seljuk Turkish army, headed by Sultan Alparslan, attacked and captured Ani. Then the Georgians captured Ani in 1124, 1161 and 1174. By the 14th century Ani was ruled by the Turkish dynasties, namely Jalayrids and the Kara Koyunlu. After the Persian Safavids ruled Ani, it became part of the Turkish Ottoman Empire in 1579. A small town remained within its walls until 1650 A.C. and it was completely abandoned by the middle of the 18th century. Examples of Sasani, Arabic, Armenian, and Seljuk architecture can be found among the Ani ruins. Ani is home to the first Turkish mosque built in Anatolia, namely Ebul Menucehr. The mosque was erected by the members of the Seljuk Dynasty in 1072. The first archaeological excavations were conducted at Ani in 1892. Since then, several archaeological excavations have been done in Ani. In the 2009 excavation season, magnetic methods were applied in Ani ruins to find the exact locations of the ruins. Magnetic Gradient Measurements were taken in front of Ebul Menucehr Mosque. After

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

    International Nuclear Information System (INIS)

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

    2016-01-01

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

  2. Trophic ulcers in the carpal tunnel syndrome

    Directory of Open Access Journals (Sweden)

    Abelardo Q.-C. Araújo

    1993-09-01

    Full Text Available A patient with carpal tunnel syndrome (CTS and trophic ulcers is described. Despite the healing of the ulcers after surgery for CTS, the severe sensory deficit and the electrophysiological tests have not shown any significant improvement. We think these findings argue against the hypothesis of the sensory deficit being responsible for the trophic ulcers. We favor a major role for the sympathetic disturbances as the main cause for those lesions.

  3. Neuropsychology and socioeconomic aspects of Klinefelter syndrome: new developments.

    Science.gov (United States)

    Skakkebæk, Anne; Wallentin, Mikkel; Gravholt, Claus H

    2015-06-01

    To summarize recent important studies on neuropsychology and epidemiology of Klinefelter syndrome. PubMed was searched for 'Klinefelter', 'Klinefelter's' and 'XXY' in titles and abstracts. Relevant studies were obtained and reviewed, as well as other articles selected by the authors. Klinefelter syndrome is the most common sex-chromosome disorder in humans, affecting one in 660 men. The key findings in Klinefelter syndrome are small testes, hypergonadotropic hypogonadism and cognitive impairment. Klinefelter syndrome scores significantly below education matched controls on a range of cognitive tests with verbal skills displaying the largest effects. Boys with Klinefelter syndrome are often in the need of speech therapy and many suffer from learning disability and may benefit from special education. New studies are elucidating aspects of cognitive functioning and suggesting that neuropsychological treatment may be of value. The socioeconomic status and educational level of Klinefelter syndrome is severely affected with many struggling to achieve any or only shorter education, resulting in low-income levels and early retirement. In addition, few become fathers and fewer live with a partner compared with controls. Medical treatment is mainly testosterone replacement therapy in order to alleviate acute and long-term consequences of hypogonadism, as well as, treating or preventing the frequent comorbidity. The neurocognitive phenotype of Klinefelter syndrome is being unraveled and the need for psychological and cognitive treatment in many cases is evident. The neurocognitive deficits no doubt influence the socioeconomic status of many Klinefelter syndrome patients, which is clearly inferior to age-matched controls.

  4. Leg 201Tl-SPECT in chronic exertional compartment syndrome

    International Nuclear Information System (INIS)

    Elkadri, N.; Slim, I.; Blondet, C.; Choquet, Ph.; Constantinesco, A.; Lecocq, J.

    2004-01-01

    Leg 201 Tl-SPECT in chronic exertional compartment syndrome Background: The chronic exertional compartment syndrome is one of the most frequent origins regarding leg pain due to sport training. The diagnosis can be established by invasive compartment pressure measurement. The aim of this study is to evaluate the role that could have 201 Tl-SPECT for patients with suspicion of compartment syndrome. Patients and methods: 51 leg 201 Tl-SPECT exams were performed (exercise - and rest without reinjection) in 49 patients; 28 had compartment syndrome confirmed by pressure measurement. About 100 MBq of 201 Tl were injected during exercise, when pain appeared or at least after 25 minutes exercise. We studied mean percentages of level uptake for each compartment, referred to the maximal uptake of both legs. Results: 47 compartments were concerned by compartment syndrome and 361 compartments were not. Scintigraphic patterns in compartments are reversible ischaemia (45%), uptake stability (36%) or reverse redistribution (19%); these patterns are not linked to compartment syndrome. However, there is a significant difference of rest 201 Tl level uptake between compartments with and without compartment syndrome and a significant correlation between muscular pressure measurement and rest level uptake. Conclusion: 201 Tl-SPECT shows that only ischaemia does not explain compartment syndrome. Moreover, it allows to predict pressure variation during exercise but it does not offer any interest in order to select patients for muscular invasive pressure measurement. (author)

  5. Polycystic ovary syndrome and metabolic syndrome.

    Science.gov (United States)

    Ali, Aus Tariq

    2015-08-01

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

  6. Wolfram syndrome 1 and Wolfram syndrome 2.

    Science.gov (United States)

    Rigoli, Luciana; Di Bella, Chiara

    2012-08-01

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

  7. Bardet-Biedl syndrome and Usher syndrome.

    Science.gov (United States)

    Koenig, Rainer

    2003-01-01

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

  8. β-cell function is associated with metabolic syndrome in Mexican subjects

    OpenAIRE

    Baez-Duarte, Blanca G; Sánchez-Guillén, María Del Carmen; Pérez-Fuentes, Ricardo; Zamora-Ginez, Irma; Leon-Chavez, Bertha Alicia; Revilla-Monsalve, Cristina; Islas-Andrade, Sergio

    2010-01-01

    Aims The clinical diagnosis of metabolic syndrome does not find any parameters to evaluate the insulin sensitivity (IS) or β-cell function. The evaluation of these parameters would detect early risk of developing metabolic syndrome. The aim of this study is to determine the relationship between β-cell function and presence of metabolic syndrome in Mexican subjects. Material and methods This study is part of the Mexican Survey on the Prevention of Diabetes (MexDiab Study) with headquarters in ...

  9. Total intravenous anesthesia with propofol and remifentanil in a patient with MELAS syndrome -A case report-.

    Science.gov (United States)

    Park, Jin Suk; Baek, Chong Wha; Kang, Hyun; Cha, Su Man; Park, Jung Won; Jung, Yong Hun; Woo, Young-Cheol

    2010-04-01

    A 23-year-old woman with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) underwent a laparoscopy-assisted appendectomy. MELAS syndrome is a multisystemic disease caused by mitochondrial dysfunction. General anesthesia has several potential hazards to patients with MELAS syndrome, such as malignant hyperthermia, hypothermia, and metabolic acidosis. In this case, anesthesia was performed with propofol, remifentanil TCI, and atracurium without any surgical or anesthetic complications. We discuss the anesthetic effects of MELAS syndrome.

  10. Antithyroid Arthritis Syndrome: A Case Report and Review of the Literature

    OpenAIRE

    Takaya, Kazuhiko; Kimura, Natsumi; Hiyoshi, Toru

    2016-01-01

    We herein report the case of a 38-year-old Japanese woman with antithyroid arthritis syndrome who experienced severe migratory polyarthritis after the initiation of thiamazole therapy. The patient's symptoms promptly disappeared without any sequelae after the withdrawal of the drug. Antithyroid arthritis syndrome is poorly characterized, and the findings from our literature review indicate that this syndrome exhibits serological features that are distinct from those of antithyroid agent-induc...

  11. Alport Syndrome Diagnosis

    Science.gov (United States)

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

  12. 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.

  13. Post-Polio Syndrome

    Science.gov (United States)

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

  14. Klippel-Feil Syndrome

    Science.gov (United States)

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

  15. Redefining syndromic surveillance

    Directory of Open Access Journals (Sweden)

    Rebecca Katz

    2011-12-01

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

  16. Beckwith-Wiedemann syndrome

    Science.gov (United States)

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

  17. 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.

  18. International Rett Syndrome Foundation

    Science.gov (United States)

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

  19. Churg-strauss syndrome

    Directory of Open Access Journals (Sweden)

    Brar B

    2009-01-01

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

  20. ACUTE COMPARTMENT SYNDROME

    African Journals Online (AJOL)

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

  1. Metabolic syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Jouyandeh Zahra

    2013-01-01

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

  2. Shaken Baby Syndrome

    Science.gov (United States)

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

  3. 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

  4. Foix-Chavany syndrome

    International Nuclear Information System (INIS)

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

    1979-01-01

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

  5. Usher syndrome in Denmark

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  6. Proteus syndrome in adulthood

    NARCIS (Netherlands)

    Muller, E; Lichtendahl, DHE; Hofer, SOP

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

  7. 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

  8. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried

    2006-09-01

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

  9. Colitis of Behcet's syndrome

    International Nuclear Information System (INIS)

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

    1980-01-01

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

  10. Trigeminalt trofisk syndrom--

    DEFF Research Database (Denmark)

    Kjaerskov, Mette Wanscher; Bygum, Anette

    2009-01-01

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

  11. 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...

  12. 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.

  13. 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.

  14. [The refeeding syndrome].

    Science.gov (United States)

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

    2015-01-01

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

  15. Lumbar dorsal ramus syndrome.

    Science.gov (United States)

    Bogduk, N

    1980-11-15

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

  16. Heterogeneity in Waardenburg syndrome.

    Science.gov (United States)

    Hageman, M J; Delleman, J W

    1977-01-01

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

  17. Apert syndrome (acrocephalosyndactyly

    Directory of Open Access Journals (Sweden)

    Milovanović J.

    2014-01-01

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

  18. Neonatal bartter syndrome

    International Nuclear Information System (INIS)

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

    2006-01-01

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

  19. 5 CFR 894.602 - May I cancel my enrollment at any time?

    Science.gov (United States)

    2010-01-01

    ... 5 Administrative Personnel 2 2010-01-01 2010-01-01 false May I cancel my enrollment at any time... Cancellation of Coverage § 894.602 May I cancel my enrollment at any time? No. You may only cancel your enrollment during an open season. Exceptions: You may cancel your dental and/or vision enrollment if you...

  20. 40 CFR 63.7506 - Do any boilers or process heaters have limited requirements?

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 13 2010-07-01 2010-07-01 false Do any boilers or process heaters have..., and Institutional Boilers and Process Heaters General Compliance Requirements § 63.7506 Do any boilers or process heaters have limited requirements? (a) New or reconstructed boilers and process heaters in...