Sample records for anus diseases

  1. Crohn's Disease of the Colon, Rectum, and Anus. (United States)

    Harb, William J


    There is no cure for Crohn disease. Newer treatments, such as biological therapy, have led to an improved quality of life. This article focuses on the surgical management of Crohn disease of the colon, rectum, and anus. Restorative and nonrestorative surgical options for colonic Crohn disease are discussed. Treatment options for perianal Crohn disease are also reviewed.

  2. Imperforate anus (United States)

    This problem is often found when the newborn infant is first examined. Call your provider if a child treated for imperforate anus has abdominal pain or fails to develop any bowel control by the age of 3.

  3. Imperforate anus repair (United States)

    ... anus defects: The first surgery is called a colostomy. The surgeon creates an opening in the skin ... attached to the abdomen. This is called a colostomy. The baby is often allowed to grow for ...


    Directory of Open Access Journals (Sweden)

    I Gede Wahyu Toya Pratama


    Full Text Available Kondiloma Akuminata di sebabkan oleh Human Papillomavirus (HPV.HPV6dan11yangberisiko rendahuntuk menyebabkankanker, tetapimenyebabkan90% dariKondiloma akuminata. Kondiloma Akuminata di tularkan melalui hubungan sexual yang berganti-ganti pasangan.Dilaporkan kasus seorang laki-laki berumur 19 tahun dengan diagnosis Kondiloma Akuminata pada anus. Gambaran klinis di temukan papul multipel dengan batas tegas dan berbentuk bulat seperti jengger ayam . Ukuran servariasi 3cm-2x3 cm dengan konsistensi padat dan permukaan verukosa.Penatalaksanaan yang di lakukan adalah Tutul TCA (TRICHLORACETIC ACID 80%. Prognosis pasien ini baik.

  5. Sex-spreading diseases in anus and rectus%肛肠部位性传播疾病

    Institute of Scientific and Technical Information of China (English)



    @@ 性传播疾病 (sexually transmitted diseases,STD) (下简称性病) 在我国流行与传播已成事实,随着性习俗的扭曲,性病除在生殖器部位出现外,在其他部位也会形成病变.性病在其他部位所表现出的新形式常常被人们所忽略,肛肠部位的病变便是其中之一.这无疑对防治工作带来新课题.为了迎接 21 世纪的新的挑战,有必要对此类病变从理论上给予阐述引以重视,这是本文的目的,仅供参考.

  6. Adenocarcinoma de recto y ano en paciente con enfermedad de Crohn tratado con infliximab Adenocarcinoma of the rectum and anus in a patient with Crohn´s disease treated with infliximab

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    J. Egea Valenzuela


    Full Text Available In the present paper, we report the case of a patient with long-standing Crohn´s disease and multiple complications that, after receiving treatment with infliximab, was diagnosed with an adenocarcinoma of the rectum and anus that required radical surgery, later presenting multiple metastases. In the discussion, characteristics and major risk factors for colorectal cancer in patients with inflammatory bowel disease will be largely reviewed, and current studies will be analyzed in connection with the appearance of neoplasms in patients being treated with biologics.Presentamos el caso de un paciente con enfermedad de Crohn de larga evolución y con múltiples complicaciones de su enfermedad que, tras recibir tratamiento con infliximab, es diagnosticado de un adenocarcinoma de recto y ano que precisa cirugía radical, presentando posteriormente metástasis múltiples. Se repasarán durante la discusión las características y los factores de riesgo más importantes del cáncer colorrectal en pacientes con enfermedad inflamatoria intestinal, y se analizarán los trabajos existentes hasta la fecha en relación con la aparición de neoplasias en pacientes tratados con fármacos biológicos.

  7. Cryptorchidism in boys with imperforate anus

    DEFF Research Database (Denmark)

    Cortes, Dina; Thorup, J M; Nielsen, Ole Henrik;


    was the incidence of cryptorchidism. The incidence of renal and ureteric malformations and dysplasias showed a parallel tendency. The incidence of vertebral malformations and dysplasias in the T10-S5 area was low among patients with a covered anus or a perineal fistula. Cryptorchidism was found associated...... with urological and with T10-S5 vertebral malformations and dysplasias. Recognition of this association is probably new. The histopathological findings of testicular biopsy specimens and the location of the undescended testes in patients with an imperforate anus showed the same pattern as seen in undescended...

  8. Cryptorchidism in boys with imperforate anus

    DEFF Research Database (Denmark)

    Cortes, D; Thorup, J M; Nielsen, O H;


    In a retrospective study of the case reports of 136 boys who were operated on for an imperforate anus and who survived at least 18 months, cryptorchidism was the most common associated anomaly, involving 26 cases (19%). The higher the level of the anorectal malformations, the higher was the incid......In a retrospective study of the case reports of 136 boys who were operated on for an imperforate anus and who survived at least 18 months, cryptorchidism was the most common associated anomaly, involving 26 cases (19%). The higher the level of the anorectal malformations, the higher...

  9. MRI anatomy of anteriorly displaced anus: what obstructs defecation?

    Energy Technology Data Exchange (ETDEWEB)

    AbouZeid, Amr Abdelhamid [Ain-Shams University, Department of Pediatric Surgery, Cairo (Egypt); Mohammad, Shaimaa Abdelsattar; Khairy, Khaled Talaat [Ain-Shams University, Department of Radiodiagnosis, Cairo (Egypt)


    Anteriorly displaced anus is an anomaly that is debated with regard to its nomenclature, diagnosis and management. To describe MRI anatomy of the anal canal in children with anteriorly displaced anus and its impact on the process of defecation. We prospectively examined ten children (7 girls, 3 boys; age range 7 months to 8 years, mean 3 years) with anteriorly displaced anus between August 2009 and April 2012. Noncontrast MRI examinations were performed on a 1.5-T magnet. T1- and T2-weighted turbo spin-echo images were acquired in axial, sagittal and coronal planes of the pelvis. The anorectal angle and the relative hiatal distance were measured in mid-sagittal images, and compared with those of a control group using the Mann-Whitney test. In children with anteriorly displaced anus, no anatomical abnormality was depicted at the level of the proximal anal canal. However, the distal anal canal was displaced anteriorly, running out its external muscle cuff, which remained un-displaced at the usual site of the anus. This changes the orientation of the central axis of the anal canal by passing across instead of along the fibers of the longitudinal muscle coat. Children with anteriorly displaced anus had a more obtuse anorectal angle (mean 112.1 ), which was significantly greater than that of the control group (mean 86.2 ). MRI is a valuable tool in studying the anatomy of the anal canal in children with anteriorly displaced anus. The abnormal orientation of the longitudinal muscle across the anal canal can explain the obstructed defecation in these children. Based on this study, it might be of interest to use MRI in studying equivocal cases and children with unexplained constipation. (orig.)

  10. 不同病程手足口病患者咽拭、肛拭配对标本肠道病毒检出率的比较%Comparison of enterovirus detection rates in paired specimens of throat swabs and anus swabs from patients in different phases of hand-foot-mouth disease

    Institute of Scientific and Technical Information of China (English)

    李颐; 居丽雯; 蒋露芳; 沈磊; 赵文良; 沈琦; 蔡明毅; 孟威; 姜庆五


    目的 比较不同病程手足口病患者咽拭、肛拭配对标本中肠道病毒的检出率.方法 采集2010年7月至2011年12月上海市儿童医院临床诊断手足口病患儿175例咽拭、肛拭配对标本,采用实时-PCR法进行柯萨奇病毒A组16型(CoxA16)、肠道病毒71型(EV71)和其他EV属检测,分析不同病程配对标本肠道病毒检出率.配对标本行McNemar检验.结果 175例患者的配对标本CoxA 16、EV71、其他EV属咽拭子阳性率分别为38.29%、20.57%和8.00%,肛拭子阳性率分别为44.00%、23.43%和13.14%.结果显示两种标本检测结果的差异均有统计学意义(均P<0.01).发病当天至发病后2d及4~11 d肛拭EV71阳性率均比咽拭阳性率高;发病后2~3d肛拭CoxA 16阳性率均比咽拭阳性率高;发病当天至发病后3d肛拭其他EV属阳性率均比咽拭阳性率高.对于EV71,咽拭标本在发病后3~11 d均可检出阳性,而CoxA 16、其他EV属在发病3d后都无法检出阳性.结论 肛拭标本总体阳性率高于咽拭标本.EV71在呼吸道带毒持续时间长于CoxA 16和其他EV属.在发病2d内肠道病毒在咽部繁殖扩增,此时病毒可通过呼吸道途径传播.%Objective To compare the detection rates of enterovirus in paired specimens of throat swabs and anus swabs from patients with different phases of hand-food-mouth disease (HFMD).Methods A total of 175 paired throat swabs and anus swabs from patients who were clinically diagnosed with HFMD in Children's Hospital of Shanghai from July 2010 to December 2011 were collected.Real-time reverse transcription polymerase chain reaction (RT-PCR) to detect Enterovirus 71 (EV71),Coxsackievirus group A type 16 (CoxA16) and other Enterovirus(EV) was performed.The detection rates of paired specimens within different phases of the disease were compared.Results Among the 175 pairs of specimens,the positive rates of CoxA16,EV71 and other EV in throat swabs were 38.29%,20.57% and 8.00

  11. Delayed diagnosis of imperforate anus: an unacceptable morbidity.

    LENUS (Irish Health Repository)

    Turowski, Carmen


    Diagnosis of imperforate anus is usually made shortly after birth with physical examination. Nonetheless, a significant number of patients have presented beyond the neonatal period without recognition of anorectal malformation. We reviewed our experience of anorectal malformations, with particular emphasis on the timing of diagnosis.

  12. Internal hemorrhoids - their typical radiological appearance and differential diagnosis to carcinoma of rectum and anus

    Energy Technology Data Exchange (ETDEWEB)

    Fiedler, V.; Koester, R.


    The main indication for colon barium enema examination is occult bleeding or bleeding noticed by the patient himself. The radiologist has to take into account all clinical details that could lead to bleeding and to document them. The most frequent causes of rectal bleeding are hemorrhoids and diverticulosis/itis which in marked cases may have a tumor-like appearance. A good double-contrast examination of the colon must not only exclude tumors, polyps or inflammatary diseases but also demonstrate other causes of bleeding. The presented paper describes typical roentgen signs and gives criteria to differentiate hemorrhoids from deeply situated cancer of the rectum or anus.

  13. Augmented-pressure colostogram in imperforate anus with fistula

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    Gross, G.W. (Jefferson Medical Coll., Philadelphia, PA (United States). Dept. of Radiology); Wolfson, P.J. (Jefferson Medical Coll., Philadelphia, PA (United States). Dept. of Surgery); Pena, A. (Schneider Children' s Hospital, Long Island Jewish Medical Center, New York, NY (United States). Dept. of Pediatric Surgery)


    Most newborns with imperforate anus, except for those with very low varieties, undergo a diverting colostomy performed in the postnatal period, with definitive surgical repair at a later age. Accurate demonstration of the anatomy of any associated fistula between the rectum and urogenital tract is essential for optimal surgical management. An augmented-pressure distal segment colostogram is recommended prior to definitive repair, both to confirm the level of rectal atresia and to define any associated fistulous communication. We report a case of high imperforate anus with rectourethral fistula in which the fistulous tract was not identified on the conventional contrast colostogram but was readily delineated when an augmented-pressure modification of the technique was utilized. The technical aspects of augmented-pressure colostography are presented. (orig.).

  14. Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome. (United States)

    Li, Mindy H; Eberhard, Moriah; Mudd, Pamela; Javia, Luv; Zimmerman, Robert; Khalek, Nahla; Zackai, Elaine H


    Pallister-Hall syndrome is a complex malformation syndrome characterized by a wide range of anomalies including hypothalamic hamartoma, polydactyly, bifid epiglottis, and genitourinary abnormalities. It is usually caused by truncating frameshift/nonsense and splicing mutations in the middle third of GLI3. The clinical course ranges from mild to lethal in the neonatal period. We present the first patient with Pallister-Hall syndrome reported with total colonic aganglionosis, a rare form of Hirschsprung disease with poor long-term outcome. The patient also had an imperforate anus, which is the third individual with Pallister-Hall syndrome reported with both Hirschsprung disease and an imperforate anus. Molecular testing via amniocentesis showed an apparently de novo novel nonsense mutation c.2641 C>T (p.Gln881*). His overall medical course was difficult and was complicated by respiratory failure and pan-hypopituitarism. Invasive care was ultimately withdrawn, and the patient expired at three months of age. This patient's phenotype was complex with unusual gastrointestinal features ultimately leading to a unfavorable prognosis and outcome, highlighting the range of clinical severity in patients with Pallister-Hall syndrome.

  15. The Imperforate Anus Psychosocial Questionnaire (IAPSQ: Its construction and psychometric properties

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    Christensson Kyllike


    Full Text Available Abstract The origin of the present study was to develop the liaison work between the disciplines of child and adolescent psychiatry and paediatric surgery and nursing, so as to improve the quality of treatment and care of a group of children with imperforate anus (IA and their families. Imperforate anus is a congenital disease involving a deformity of the anorectum. The early surgery and invasive follow-up treatment associated with IA may affect the child psychosocially, including the child-parent relationship. By developing and testing a questionnaire for children born with anorectal anomalies, a tool for measuring psychosocial functioning can be realized. Methods First, a literature review on "Imperforate Anus" was performed. Second, an exploratory interview study was conducted with patients/adolescents with IA and their parents. The findings from these interviews were the foundation for construction of the questionnaire. The Imperforate Anus Psychosocial Questionnaire (IAPSQ was tested and revised three times before its completion. It contains 45 items on Likert scales. A total of 87 children completed the IAPSQ: 25 children with IA and two comparison groups. Face and content validity were considered. The Rasch approach, an item response theory model, was used to evaluate the psychometric properties of the IAPSQ, where item difficulty and person ability are concurrently approximated. Results The findings of the Rasch analysis revealed that the psychological dimension was reasonable, and that person reliability (0.83 was moderate and item reliability (0.95 was sufficient. The social dimension showed satisfactory item reliability (0.87. The person reliability (0.52 of the social dimension was weak. Content validity seemed to be established and construct validity was recognized on the psychological dimension. Conclusion The IAPSQ provides a reasonably valid and reliable measure of psychosocial functioning for clinical use among children with IA

  16. 一次性根治术治疗肛周脓肿疾病的临床应用优势分析%Analysis of the Clinical Application of Disposable Radical Operation in the Treatment of the Disease of Anus Week Abscess

    Institute of Scientific and Technical Information of China (English)

    孙留生; 李爱云; 凌艳霞; 王坤


    recovery time, hospitalization time were(4.74 ± 1.85 min, (6.02 ± 0.53) d, (8.52 ± 292) d were shorter in the traditional operation, groups of (6.14 ± 1.91) min, (8.98 ± 1.72) d,(11.26 ± 3.57)d and t statistics processing was P<0.05.Conclusion The clinical effect of one-time radical operation in the treatment of anus week abscess disease is accurate, can effectively improve the symptoms of anal abscess, accelerate the anus and anus function, shorten the treatment time, it is worth promoting.

  17. Validity of Transperineal Ultrasound in Infants with Imperforate Anus

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    M. Alehossein


    Full Text Available Background and Objectives: Optimal surgical management of the neonate with imperforate anus depends on accurate determination of the level of the rectal pouch. The use of ultrasound to determine the pouch level has been previously described, but has not become widely accepted. The goal of this study is to determine the validity of this measurement according to final surgical findings in patients with anorectal malformation. Materials and Methods: In a cross sectional study,23 children with imperfo-rated anus were evaluated by transperineal ultrasound with a 7.5 MHz sector transducer in the supine and lithotomic positions to determine the pouch level and pouch to perineum (P-P distance. In all cases, the level of the distal pouch was confirmed by definitive surgery or distal colostogram. The agreement between sonography and surgery or colostogram as gold standard was obtained by weighted kappa test. Results: In five children, the pouch to perineum (P-P distance was less than 10mm. All of these low lesions were safely treated by a simple perineal anoplasty (minimal posterior sagittal anorectoplasty; i.e. minimal PSARP and were confirmed as low type. Seven children had P-P distance of 10-15 mm. In the follow up definitive surgery, 5 cases were intermediate and two cases were high. Eleven children had a P-P distance of more than 15 mm, of which ten cases were high lesions and had colostomy at birth. During follow up, 8 cases underwent definitive surgery of PSARP and two of these high cases were confirmed by distal colostogram and one case was categorized as intermediate by definitive PSARP. Measure of agreement (Kappa was calculated to be 0.791 (P = 0.001 Therefore, Ultrasound correctly predicted the level of the distal pouch in 20 of 23 patients. Conclusion: Transperineal ultrasound can be confidently used prior to surgical decision in children with imperforate anus in addition to physical exam.

  18. Rectal diaphragm in a patient with imperforate anus and rectoprostatic fistula

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    Thakur Ashokanand


    Full Text Available The association of rectal diaphragm in an imperforate anus has not been reported until now. A 1-year-old male presented with right transverse colostomy for high anorectal malformation. The patient had imperforate anus and a recto-prostatic fistula with rectal diaphragm. We managed the case by an ano-rectal pull through with excision of the diaphragm.

  19. Bifid scrotum, perineal hamartoma and high imperforate anus: a case report. (United States)

    Villarreal, D H; Ortiz, V N; Iturregui, J R; Suarez, G; Duran, N


    This is a case report of a newborn patient with imperforate anus, urethro-colonic fistula, perianal hamartoma, and bifid scrotum. Successful staged repair of these anomalies is described together with review of the embriology related to the case.

  20. [Duplication of the anus and rectum in an adult. Report of 1 case]. (United States)

    Labastida Muñoz, H; Tamayo Pérez, R; Corichi Barceinas, R


    It is reported a case of duplication of the anus and rectum. A 48 year old man, had two functioning rectae, one ending in its normal anatomical topography and the functioning but nor functional supernumerary rectum exteriorized in the left gluteal region trough a rudimentary anus. Histological studys demonstrated a rudimentary sphincter in the ectopic anus, and focal carcinamotous transformation of one of the four adenomatous polyps, encountered protruding through the normally located anus. The anal anomaly was associated with partial agenesis of the sacrum, absence of coccyx, sacral anterior meningomyelocele and hypoplasia of the twelve right rib. The frequency of the anomaly, its histology and embriology, as well as its classification within the malformations of the terminal gut, were revised in the medical bibliography. It is concluded that this type of anomaly has not been classified or describe, before.

  1. Squamous cell carcinoma of the anus-an opportunistic cancer in HIV-positive male homosexuals

    Institute of Scientific and Technical Information of China (English)

    Pascal Gervaz; Alexandra Calmy; Ymer Durmishi; Abdelkarim S Allal; Philippe Morel


    Squamous cell carcinoma of the anus (SCCA) is a common cancer in the human immunodeficiency virus (HIV)- infected population, and its incidence continues to increase in male homosexuals. Combined chemoradiation with mitomycin C and 5-fluorouracil was poorly tolerated by severely immunocompromised patients in the early 1990s. In the era of highly active antiretroviral therapy (HAART), however, recent data indicate that: (1) most HIV patients with anal cancer can tolerate standard chemotherapy regimens; and (2) this approach is associated with survival rates similar to those of HIV-negative patients. However, HIV-positive patients with SCCA are much younger, more likely to develop local tumor recurrence, and ultimately die from anal cancer than immune competent patients. Taken together, these findings suggest that anal cancer is an often fatal neoplasia in middle- aged HIV-positive male homosexuals. In this population, SCCA is an opportunistic disease resulting in patients with suboptimal immune function from persistent papillomaviruses (HPVs). Large-scale cancer-prevention strategies (routine anuscopy and anal papanicolaou testing) should be implemented in this population. In addition, definitive eradication of oncogenic HPVs within the anogenital mucosa of high-risk individuals might require a proactive approach with repeated vaccination.

  2. Neurostimulation for fecal incontinence after correction of repair of imperforate anus (United States)

    Bougie, Alexandre; McFadden, Nathalie; Mayer, Sandeep; Lebel, Michel; Devroede, Ghislain


    We are reporting the case of a 32-year-old female who had suffered from fecal incontinence (FI). She was born with an imperforate anus and a recto-vaginal fistula; she underwent repair at 6 mo of age. At 29 years of age, she was still fecally incontinent despite extensive pelvic floor reeducation. A magnetic resonance imaging and an anal electromyography were performed. Because her symptoms were considered to be probably due to extra-sphincteric implantation of the neo-anus, a redo was performed of the recto-neo-anal intra-sphincteric anastomosis. A neurostimulator device was subsequently implanted for persistent incontinence. Solid and liquid FI resolved, and her quality of life improved markedly. Combining surgery to correct the position of the neo-anus within the anal sphincter complex and neurostimulation could thus become a new approach in cases of refractory FI for patients with imperforate anus as a newborn. Follow-up into adulthood after pediatric imperforate anus surgery should be recommended for adult patients with persistent FI.

  3. Imperforate anus, delayed presentation in a 7-year-old girl. (United States)

    Acosta Farina, D; Ortiz-Interian, C J; Acosta Vasquez, C E


    Most of the cases of imperforate anus should be discovered at birth, during the initial physical examination. This case represents the status of Third World rural perinatal care, wherein delivery of an infant by a midwife in poverty stricken area of mountainous Jipijapa, Ecuador, failed to reveal the anomaly during the cursory examination. Moreover, the cultural taboos of the Jipijapan agricultural community further delayed the diagnosis. A 7-year-old girl with imperforate anus presenting with a rectovaginal fistula is reported. Specific findings in the case, therapy, and an approach to the diagnosis are discussed.

  4. 经肛门拖出式先天性巨结肠根治术的临床实践研究%Clinical Study on Practice with Pulling out Through the Anus Hirschsprung

    Institute of Scientific and Technical Information of China (English)

    石毅军; 侯远发; 宋耀明


    目的:总结经肛门拖出式根治术治疗先天性巨结肠的临床疗效。方法:2011年6月~2012年6月我院共收治15例先天性巨结肠患者,通过经肛门拖出式根治术治疗,观察围手术期情况及术后随访情况。结果:15例均经肛门顺利完成先天性巨结肠根治的手术,术后出现3例并发症,随访发现,患儿逐渐恢复正常,Reding肛门评分明显增加。结论:经肛门拖出式先天性巨结肠根治术治疗先天性巨结肠效果明显,术后恢复快,治疗时间短,具有临床推广价值。%To Summary dragged through the anus type radical mastectomy Hirschsprung clinical efficacy.Methods:A retrospective analysis of our hospital approach in June 2011 to June 2012 included 15 cases between Hirschsprung patients to take through the anus drag-type radical mastectomy situation perioperative and postoperative follow-up situation.Results:15 cases were successfully completed through the anus surgery Hirschsprung's disease, three cases of postoperative complications, follow-up found that children gradually returned to normal,Reding anus score increased significantly.Conclusion:Pulling out through the anus treatment of Hirschsprung's disease Hirschsprung effect is obvious,rapid postoperative recovery,the treatment time is short, with a clinical value.

  5. Postoperative Megarectum in an Adult Patient with Imperforate Anus and Rectourethral Fistula

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    Yoshifumi Nakayama


    Full Text Available This report presents a surgical case of postoperative megarectum in an adult patient with imperforate anus/anorectal malformations. A 71-year-old Japanese male presented with a mass in the lower abdomen which was 15 × 12 × 8 cm in diameter, edema in the right lower extremity, and frequent urination. He had undergone sigmoid loop colostomy for an imperforate anus as a newborn infant. At 28 years of age, the sigmoid loop colostomy was changed to sigmoid divided colostomy in the left lower abdomen. Computed tomography revealed a large cystic mass in the lower abdomen. Retrograde urethrography indicated a rectourethral fistula and megarectum with stones. A small laparotomy incision was created in the right lower abdomen, and the wall of the megarectum was identified. Approximately 2,300 mL of gray muddy fluid was identified and drained. A mucous fistula of the upper rectum was created in the right lower abdomen. This is an extremely rare case of postoperative megarectum in an adult patient with an imperforate anus and rectourethral fistula.

  6. Imperforate anus with a rectovestibular fistula and pseudotail: a case report

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    Jackson Gretchen P


    Full Text Available Abstract Introduction Human tails and pseudotails are rare sacrococcygeal lesions that are associated with a wide variety of anomalies and syndromes. Anorectal malformations are also relatively uncommon congenital defects that often occur in conjunction with syndromes or other congenital abnormalities. The anomalies associated with both disorders determine the timing and approach to surgical correction. We present an unusual case of a patient with both imperforate anus and a pseudotail in the absence of a syndrome or other associated anomalies and we emphasize the necessity of a thorough preoperative evaluation. Case presentation A Caucasian girl was born at term after an uncomplicated pregnancy and was noted at birth to have a skin-covered posterior midline mass and imperforate anus with a fistula to the vaginal vestibule. Ultrasound and magnetic resonance imaging revealed a predominately fatty lesion without presacral extension and ruled out associated spinal and cord abnormalities. The patient underwent diversion with colostomy and a mucous fistula in the newborn period as a fistulogram demonstrated a long fistulous tract to normal rectum and it was anticipated that anoplasty and resection of the mass would require extensive posterior dissection. The sacrococcygeal mass was removed during posterior sagittal anorectoplasty at the age of six weeks which was determined to be a pseudotail because of the composition of brown fat and cartilage. The patient is now 14 months old with normal bowel function after a colostomy takedown. Conclusion A comprehensive preoperative assessment and thoughtful operative plan were necessary in this unusual case because of the extensive differential diagnosis for sacrococcygeal masses in the newborn and the frequency of anomalies and syndromes associated with tail variants and imperforate anus. The pediatricians and neonatologists who initially evaluate such patients and the surgeons who correct these disorders

  7. How did the surgeons treat neonates with imperforate anus in the eighteenth century? (United States)

    Yesildag, Ebru; Muñiz, Rubén Martínez; Buyukunal, S N Cenk


    Anorectal malformations (ARMS) are one of those challenging topics of pediatric surgery. The developments in assessing and approaching patients with these anomalies have been made in the last decades and the methods described in older textbooks functioned as a guide in planning these attempts (Kiely and Peña in Pediatric surgery, Mosby, Missouri, pp 1425-1449, 1998; Grosfeld in Anorectal malformations in children, Springer-Verlag, Berlin, pp 3-15, 2006). The aim of this study is to present the attitude of a surgeon of eighteenth century to the treatment of anorectal malformations, and the evolution in the history of the anomaly. The part about imperforate anus in a textbook of surgery, found in a second-hand bookstore, was translated. The description and the classification of the anomaly, the methods of approaching these cases together with some case reports were presented and compared with today's practice. The historical background of the anomaly was evaluated not only with regard to the book of Heister specifically but also to the other data obtained in the literature. The anomaly was reported to be "not rarely" observed. The obstetricians were warned to examine a newborn baby completely for early diagnosis. The classification of the anomaly was made according to the properties of the membrane covering the anus but prompt treatment, initiating with its simple excision, was suggested in all types. Better results in cases whose anus was covered with a thin, delicate membrane were reported. The results show that routine neonatal examination for all babies was recommended in this Textbook of Surgery which had been published 260 years ago. The physical deterioration due to delay was well described. A broad classification of imperforate anus was made and successful outcome in low-type anomalies of today was reported with some case samples. It is clear that all the efforts starting from Soranus until today improved the understanding of the anomaly. Combining previous

  8. 女婴直肠前庭瘘的病因探讨%Etiology of Rectevestibular Fistula with Normal Anus in Female Infants

    Institute of Scientific and Technical Information of China (English)

    张丽丽; 张学衡


    本文报告8例正常肛门伴直肠前庭瘘的女婴,作者以临床及病理分析为主,辅以其它有关检查,对本病病因进行了探讨.指出此病发病较早,可有腰骶椎隐裂等伴发畸形,瘘管切片观察见有平滑肌存在.认为此病病因是先天性的.%Eight cases of rectovestibular fistula with normal anus are presented.A preliminary study on etiology was made mainly by the clinical and pathological findings.Because of its early onset,the accompanying spina bifida,and the presence of smooth muscle in the fistula tissue,the disease is considered congenital in origin.

  9. The separation of pygopagus conjoined twins with fused spinal cords and imperforate anus

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    Barrett P. Cromeens


    Full Text Available Each set of conjoined twins has specific anatomic features dictating unique challenges to separation. Overcoming these challenges requires creative solutions that necessitate interdisciplinary collaboration. We present a unique case of pygopagus conjoined twins with fused spinal cords, imperforate anus without fistula, and a single anal sphincter complex. Separation included the use of novel applications of 3D printing and neurophysiologic monitoring. The 3D print helped to clarify the complex anatomy and facilitate communication during planning sessions. The neurophysiologic monitoring helped to distinguish a plane of separation for the spinal cords as well as the shared anal sphincter. Implementing these technologies and thus successfully separating these twins safely required a multidisciplinary team that extended beyond clinical specialties.

  10. Heterotopic gastric mucosa in the anus and rectum: first case report of endoscopic submucosal dissection and systematic review (United States)

    Iacopini, Federico; Gotoda, Takuji; Elisei, Walter; Rigato, Patrizia; Montagnese, Fabrizio; Saito, Yutaka; Costamagna, Guido; Iacopini, Giampaolo


    Background: Heterotopic gastric mucosa (HGM) is the most reported epithelial heterotopia, but it is very rare in the rectum and anus. Methods: The first case of an asymptomatic adult male with a large nonpolypoid HGM in the low rectum underwent complete resection by endoscopic submucosal dissection (ESD) is reported. The systematic review was based on a comprehensive search of MEDLINE, EMBASE and Google Scholar. Studies on humans were identified with the term ‘heterotopic gastric mucosa in the rectum and /or anus.’ Results: The search identified 79 citations, and 72 cases were evaluated comprising the present report. Congenital malformations were observed in 17 (24%) patients; rectal duplication accounted for most of the cases. The HGM was located in the anus and perineal rectum in 25 cases (41%) and low, middle and proximal pelvic rectum in 20 (33%), five (8%) and 11 cases (18%), respectively. Morphology was nonpolypoid in 37 cases (51%), polypoid in 26 cases (36%) and ulcerated in nine cases (13%). Specific anorectal symptoms were reported by 50 (69%) patients of the whole study population, and by 33 (97%) of 34 patients ≤ 18 years. Complications were observed in 23 cases (32%). The HGM was excised in 50 cases (83%). Endoscopic resection was performed in 17 cases (34%); resection was piecemeal in five of 12 lesions ≥15 mm, required argon plasma coagulation in two cases and was associated with residual tissue in two (17%). Intestinal metaplasia and an adenoma with low-grade dysplasia were described in three adults (4%). Discussion: This systematic review shows that the HGM in the rectum and anus may be associated with specific rectal symptoms and serious complications, mainly in the pediatric population, and a risk of malignancy in adults. Its complete excision should be recommended, and the ESD can overcome the technical limits of conventional endoscopic snare resection and avoid unnecessary surgery. PMID:27103738

  11. Ritmo de alimentação de juvenis de Loricariichthys anus (Siluriformes, Loricariidae da Lagoa dos Quadros, RS, Brasil Feeding activity of juveniles of Loricariichthys anus (Siluriformes, Loricariidae in the Quadros Lake, RS, Brasil

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    Ana Cristina Petry


    Full Text Available The rhythm of movements and feeding activity of juveniles of Loricariichthys anus (Valenciennes, 1840 in the Quadros lake, South Brazil, are investigated. Between October 1997 and August 1998, 236 specimens were captured during six bimonthly 24 hour gillnet surveys. Significantly elevated levels of movement and feeding activity during the day are registered. The patterns of movement and feeding activity displayed no significant difference, suggesting that high movement activity levels can be attributed to feeding activity. The mean of the intestinal quotient was 1,89, indicating omnivorous feeding habits.

  12. 先天性无肛与腰骶椎异常%Congenital Imperforate Anus and Abnormality of Lumbosacral Vertabae

    Institute of Scientific and Technical Information of China (English)

    李正; 王练英


    The anterior-posterior and lateral roentgenogram of the lumbar and sacral vertebrae of 113 cases(males 59,females 54)with imperforate anus that underwent operations over 5 years ago,were studied.Of them,32 cases had high lesions of anorectal anomalies.40 had intermediate lesions and 41 had low lesions.Twenty-one newborns were selected as a control.The X-ray findings showed that the lumbar anomalies were found in 11 cases (11.3%)of imperforate anus group,and only two in the control.The sac-al malforma:ions in high lesions and low lesions were 62.5% and 36.6% respectively and the intermediate were between the two.Most of the high lesions associated with multiple sacral defects.The sacral vertebral defects consisted of absence of vertebrae and agenesia(41).flat sacrum(30),spina bifida oceulta(28)and sacro-lumbarization(9).%本文报道113例无肛患儿伴腰骶椎异常的情况,97例腰骶椎完整的X线片上,有异常者52例(53.6%),对照组仅2例(9.5%).在113例骶椎X线片上,57例(50.4%)有各种异常共94例次,其中23例有2个以上异常.无肛畸形位置越高,骶骨异常,特别是多发性异常越多.


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    Panigrahi Hemanta


    Full Text Available Parikartika (Anal fissure is the most common cause of anal pain. The aim of this prospective study was to assess the effectiveness of Ayurvedic compound along with manual dilatation of Anus and Jatyadi tail in anal fissure. 40 patients were included in this study and the therapeutic outcome and side effects were recorded. Recurrence of symptoms occurred in two healed patients in four months. Remission of the disease was found in 80% of cases which is statistically significant. Partial remission in 12.5% and no remission was found in 7.5% of cases. The appetite was markedly improved, which was either nil or, reduced before treatment. The mean was 0.4 as compared to 2.375 before treatment with SD 0.5905 and P is significant <0.001. Complete healing of the fissure occurred in 95% of the subjects by the end of 30 days (P<0.0001, statistically highly significant. The pain score in the subjects dropped from 3.325 (mean to 0.35 (mean in 30days time with SD 0.4830, SEM dropped from 0.1154 to 0.07638 with P value < 0.001 which is statistically significant. Ninty nine percent of the subjects experienced a significant fall in the bleeding by the end of 30 days. There was also a significant reduction in the discharge with mean dropped from 3.375 to 0.2 and SD 0.4051, P value <0.0001.Perianal pruritis was also significantly reduced with mean dropped from 3.175 to 0.35 before and after treatment respectively with SD 0.4830, SEM0.07638, and P value <0.001.

  14. What is Crohn's Disease | NIH MedlinePlus the Magazine (United States)

    ... of this page please turn JavaScript on. Feature: Crohn's Disease What is Crohn's Disease Past Issues / Winter 2016 Table of Contents As ... large intestine, leading to the anus. Who Gets Crohn's Disease? Both men and women can get Crohn's disease, ...

  15. Current treatment for inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    Chang-tai Xu; Xiue-gan Guo; Bo-rong Pan


    @@Introduction Idiopathic inflammatory bowel disease consists of Crohn's disease (CD) and ulcerative colitis (UC). CD can affect any part of the gastrointestinal tract, from the mouth to the anus, and is also known as regional enteritis, terminal ileitis, or granulomatous……

  16. Three-dimensional images facilitate to understand anorectal pull-through route for patients with imperforate anus

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    Ueno, Shigeru; Yokoyama, Seishichi; Soeda, Jinichi [Tokai Univ., Isehara, Kanagawa (Japan). School of Medicine] [and others


    On reconstructing infrapelvic structure in patients with imperforate anus, it is essential to pull the anorectum through correctly. To apprehend the ideal pull-through route stereoscopically, three-dimensional images of the pelvic structure were obtained after processing MR images from 10 patients with the anomaly and 7 controls. In controls, the infrapelvic muscle structure, which is composed of bilateral superficial perineal muscles, levator muscle complex and sphincter muscle complex, was demonstrated to converge at the center. The rectum was shown stereoscopically to descend through this central portion of the muscle, making an anorectal angle to reach the anal orifice. In those with a low-type anomaly, the rectum was shown to descend in front of the levator muscle complex and the fistula ran through the anterior portion of the sphincter complex without making an anorectal angle. The purpose of the anoplasty for those patients was considered to make a correct anorectal angle. In those with a high-type anomaly, three-dimensional position of the rectal pouch was visualized within the normally-positioned muscle complex but the sphincter muscle was thinner than control patients. For the ideal anoplasty in those patients, the rectum should be conducted into the center of the muscle complex and pulled through in the midst of the thin sphincter mass after making an anorectal angle. Anoplasty procedures should be reevaluated whether they are good for making an ideal pull-through route by three-dimensional images of the infrapelvic organs. (author)

  17. 肛肠洗剂在肛肠术后的临床应用%Anorectal lotion in anus bowel postoperative clinical observation

    Institute of Scientific and Technical Information of China (English)

    皮茂; 宾东华; 周一兰; 何滔


    Objective: Explore Anorectal lotion in anus bowel l surgery the clinical curative effect of application. Methods: The treatment group 30 cases by the anus bowel lotion treatment in the control group, 30 cases by the compound cortex phellodendri lotion treatment. Result: The treatment group pain disappeared time, patients with edema is gone time, wound healing time are less than control group, with significant differences between the two groups, P <0.05. Conclusion: Anus bowel lotion clinical curative effect exact, economical and practical worth clinical promotion.%目的:探讨肛肠洗剂在肛肠术后应用的临床疗效.方法:治疗组30例采用肛肠洗剂治疗,对照组30例采用复方黄柏洗液治疗.结果:愈显率治疗组为90.0%,对照组为66.7%.治疗组患者疼痛消失时间、水肿消退时间、伤口愈合时间均少于对照组,两组比较,差异有统计学意义(P<0.05).结论:肛肠洗剂临床疗效确切、经济实惠值得临床推广.

  18. 植入式人造肛门的设计和应用研究%The Design and Study of Implanted Artificial Anus and Its Application

    Institute of Scientific and Technical Information of China (English)

    罗永; 赵海平; 姚国栋; 宋志中; 王朝阳; 郝文女


    为改善、提高因直肠癌而行肛门切除患者和患严重肛门失禁患者的生存能力和生活质量,我们设计了一种模拟人体肛门功能的机械装置———植入式人造肛门(implanted artificial anus,IAA)。该装置由人工肛垫、连接盘、微型液泵组成,能够通过手术植入盆腔肛门部位。人工肛垫由钛合金支架和医用硅胶液囊组成,微型液压泵体积适于植入体内。微型泵安装了体外无线遥控装置。经测试,IAA 的制作达到了设计要求,通过遥控微型泵,使人工肛垫能够自如闭合、开放,从而达到控制排便,治疗失禁的目的,再现自然肛门的功能。%To improve the viability and quality of life of patients who had their anus removed because of rectal cancer or those who have severe fecal incontinence,we designed a mechanical device that imitates the functions of natural anus.The artificial anus was com-posed of artificial anal pads,connecting loop,and miniaturized liquid pump,which was implanted in the pelvis as a substitute for the anus.This design was implemented successfully.The artificial anal pads had two parts:the support frame made from titanium alloy and the sacs made from silica gel for medical use.The liquid pump was miniaturized so that it was small enough to be implanted into the body and was operated by a wireless remote controller in vitro.The mechanism of IAA is tested and proves to meet the standard of the design and can be implanted into the body.By controlling the miniaturized liquid pump,the artificial anal pads are opened and closed freely so that the patients can control over their defecation and overcome the incontinence.The IAA works well as the natural anus.

  19. Surgical management of squamous cell vulvar cancer without clitoris, urethra or anus involvement. (United States)

    Kaban, Alpaslan; Kaban, Işık; Afşar, Selim


    Vulvar cancers, which constitute 5% of all gynecologic cancers, are the fourth most common female genital cancers, preceded by uterine, ovarian and cervical cancers. The treatment methods employed for vulvar cancers have changed over the years, with previously applied radical surgical approaches, such as en bloc resection, being gradually suspended in favor of treatment approaches that require dissection of less tissue. While the removal of less tissue, which today's approaches have focused on, prevents morbidity, this method seems to result in higher risks of recurrence. It is therefore important that the balance between preventing the recurrence of the disease and forefending against postoperative complications and vulvar deformity be properly understood. As a working assumption, if patients with vulvar cancer are diagnosed at an early stage, properly evaluated and administered appropriate treatment, the most positive results can be obtained. This paper aims to highlight this assumption and demonstrate, through the provision of actual data, how to plan the treatment approach for patients who are diagnosed early. Statements extracted from the National Comprehensive Cancer Network (NCCN) Guidelines Version 1.2016 Sub-Committees on vulvar squamous cell carcinoma and articles by the European Society of Gynaecological Oncology (ESGO) regarding Vulvar Cancer Recommendations were used to obtain updated information.

  20. Colon, rectum and anus

    Institute of Scientific and Technical Information of China (English)


    970341 Serum concentration of hyaluronic acid in pa-tients with colorectal cancer. XU Hongwei(许洪卫), etal. Dept Surg, Changzheng Hosp, 2nd Milit Med Uniu,Shanghai, 200003. Chin J Dig 1996; 16(6): 329-331. Objective: To find Out the relationship of serumhyaluronic acid and colorectal cancer. Method: UsingELISA, serum concentration hyaluronic acid(HA)was

  1. [Congenital recto-vaginal fistula associated with a normal anus (type H fistula) and rectal atresia in a patient. Report of a case and a brief revision of the literature]. (United States)

    Fernández Fernández, Jesús Ángel; Parodi Hueck, Luis


    Congenital recto-urogenital type fistulas with a normal anus and rectal atresia, represent both anorectal malformations that are infrequently seen in clinical practice. We describe the case of a girl with an association of these two anomalies, together with a double vagina who, on her seventh day of life, expelled feces through her genitals. The malformations were corrected by means of a posterior sagittal approach, descending from the rectum to the anus without perineal dissection. The vaginal septum was resected thru the vulva. There is no evidence of recurrence of the recto-vaginal fistula.

  2. Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex) (United States)

    Mandrekar, Suresh R. S.; Amoncar, Sangeeta; Banaulikar, Siddhartha; Sawant, Vishal; Pinto, R. G. W.


    OEIS is an extremely rare constellation of malformations, which includes omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect. We report here autopsy findings in a case of OEIS complex, which apart from the major anomalies of the complex had bilateral club foot that is, congenital talipes equinovarus, right hydroureter, and body stalk anomaly. The umbilical cord was absent, and the umbilical vessels were embedded in an amniotic sheet, which connected the skin margin of the anterior body wall defect to the placenta, this feature being the hallmark of limb body wall complex (LBWC). This case further supports the view that OEIS and LBWC represent a continuous spectrum of abnormalities rather than separate conditions and may share a common etiology and pathogenetic mechanism as proposed by some authors. PMID:25400352

  3. Laparoscopic-assisted Anorectoplasty for Imperforate Anus in Children%腹腔镜技术在小儿肛门闭锁中的应用

    Institute of Scientific and Technical Information of China (English)

    王寿青; 李炳; 陈卫兵; 刘树立; 李龙


    目的 探讨腹腔镜辅助下先天性高位、中位肛门闭锁患儿手术的可行性. 方法 6例先天性高位、中位肛门闭锁患儿,均在腹腔镜监视下游离出直肠盲端及痿管,切断瘘管,腹腔镜下修补尿瘘或阴道瘘.电刺激找到盆底肌肉中心点,做成一隧道,将直肠盲端从此隧道内拖出,与肛穴缘皮肤吻合. 结果 6例均在腹腔镜辅助下完成直肠肛门成形术.腹腔镜手术操作时间35 ~74 min(平均46.5 min),术中出血量<15 ml,住院时间10 ~18 d(平均14.5 d).无并发症发生.术后随访6~12个月,无肛门失禁、直肠后间隙感染等并发症,均能够正常排便.肛门功能评分优4例,良2例. 结论 腹腔镜辅助下直肠肛门成形术是一种安全、有效的方法,处理瘘管方便,辨认盆底肌中心准确,手术后可获得良好的排便功能,具有创伤小、恢复快、疗效优等特点.%Objective To study the feasibility of laparoscopic-assisted anorectal pull through for high or middle imperforate anus. Methods This study included 6 infants (4 male and 2 female, aged between 7 days and 6 months) with high or middle imperforate anus. Laparoscopic sharp dissection and cautery were used to expose the rectal pouch down to the urethral or vaginal fistula, which was ligated distally and cut off. The pelvic floor musculature was then assessed and the center of the levator muscle was identified. Externally, a 10-mm skin incision was made at the center of the anal dimple, guided by laparoscopy. The rectum was grasped using the perineal trocar and exteriorized to the perineum afterwards, and anorectal anastomosis was performed with absorbable interrupted suture. Results Laparoscopic-assisted anorectoplasty was successfuluy performed on the six cases. The mean operation time was 46. 5 min (35-74 min) , and the intraopeative blood loss was less than 15 ml. The patients were discharged from hospital in 10-18 days ( mean ,14.5 d) after operation. No

  4. VACTERL (vertebral anomalies, anal atresia or imperforate anus, cardiac anomalies, tracheoesophageal fistula, renal and limb defect spectrum presenting with portal hypertension: a case report

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    Losa Ignatius


    Full Text Available Abstract Introduction We report for the first time a unique case of VACTERL (vertebral anomalies, anal atresia or imperforate anus, cardiac anomalies, tracheoesophageal fistula, renal and limb defect spectrum associated with portal hypertension. The occurrence of both VACTERL spectrum and extrahepatic portal hypertension in a patient has not been reported in the literature. We examined whether or not there was any association between extrahepatic portal hypertension and VACTERL spectrum. Case Presentation A two-and-half-year-old Caucasian girl with VACTERL spectrum presented with hematemesis and abdominal distension. She had caput medusae, ascites, splenomegaly, gastric and esophageal varices. Her liver function tests were within normal limits. Magnetic resonance imaging of the liver with contrast showed a thready portal vein with collateral vessels involving both right and left portal veins without intrahepatic duct dilation. Conclusion A thready portal vein, with features of extrahepatic portal hypertension, is a rare non- VACTERL-type defect in patients with VACTERL spectrum. Understandably, clinicians should give low priority to looking for portal hypertension in VACTERL spectrum patients presenting with gastrointestinal bleeding. However before routinely looking for a thready portal vein and/or extrahepatic portal hypertension in asymptomatic VACTERL spectrum patients, we need further evidence to support this rare association.

  5. Colon,rectum and anus

    Institute of Scientific and Technical Information of China (English)


    2010344 Serotonin transporter expression in rats with chronic visceral hypersensitivity.SUN Chengcheng(孙程程),et al. Dept Gastroenterol,Peking Univ 1st Hosp,Beijing 100034.World Chin J Digestol 2010;18(14):1428-33. Objective To determine whether colonic serotonin transporter (SERT) expression is altered in rats with visceral hypersensitivity and to explore the

  6. Colon,rectum and anus

    Institute of Scientific and Technical Information of China (English)


    950328 Stepwise regression analysis on affective fac-tor of the changes in gastrin and somatostatin in col-orectal cancer patients.WANG Yuanhe(王元和),etal.2nd Milit Med Univ,Shanghai,200003.Med J ChinPLA 1995:20(1):48-51.Gastrin and somatostatin (SS) levels in peripheralblood,tumor and its surrounding mucosa were deter-mined in 40 colorectal cancer patients by RIA with theserum gastrin (SG),plasma SS(PS),tumor SS(TS)or cancer-adjacent mucosa (CAMS)SS(CAMS)lev-els were taken as dependent variables and the remain-ing variables(including gastrin and SS levels,age and

  7. Colon,rectum and anus

    Institute of Scientific and Technical Information of China (English)


    930135 Induction of expression of HLA anti-gens,carcinoembryonic antigen and oncogeneproduct on human colorectal cancer cell lineswith interferon-γ.WANG Ling(王聆),et al.Immunol Instit,Shanghai 2nd Med Univ.Chin J

  8. Colon,rectum and anus

    Institute of Scientific and Technical Information of China (English)


    2008303 MicroRNA expression profiling in hydrox-ycamptothecin-resistant human colon cancer cell line by microarray.TONG Jinlu(童锦禄), et al. Dept Gastroenterol, Renji Hosp, Med Sch, Shanghai Jiaotong Univ, Shanghai Instit Dig Dis, Shanghai 200001. Chin J Dig 2008;28(4):246-249.Objective To explore the role of a novel regulatory molecule-microRNA in the hydroxycamptothecin-resistant human colon cancer cell line SW1116/HCPTin order to provide a new reversal target for multidrug resistance.

  9. Imperfuração anal associada à agenesia parcial do sacro e lipoma pré-sacral: síndrome de Currarino Imperforate anus associated with partial sacral agenesis and presacral lipoma: Currarino syndrome

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    Paulo Ricardo G. Zen


    anus and recto-vestibular fistula diagnosed in the first day after birth. At seven months of age, she started to present episodes of recurrent urinary infections and received a diagnosis of neurogenic bladder. At the same time, partial sacral agenesis was noted. Magnetic resonance imaging and computed tomography scan of the spine identified the presence of a fistula coincident with the lombo-sacral dimple described at clinical examination, amputation of the lower portion of the spinal cord with reduced number of nervous roots of the caudus equinus and lipomatous presacral mass. The patient did not present other dysmorphia. Parental radiologic evaluation did not identify sacral abnormalities. COMMENTS: Currarino syndrome is a rare autosomal dominant genetic disease characterized by the triad composed of anal atresia, partial sacral agenesis and presacral tumor. It includes, among others, teratomas, meningoceles, enteric cysts and lipomas, as observed in our patient. Children presenting anorectal abnormalities should be evaluated regarding the presence of Currarino syndrome. The partial sacral agenesis is a major sign of this disease.

  10. Infliximab for the Treatment of Crohn'S Disease: Review and Indications for Clinical Use in Canada


    Remo Panaccione


    Crohn's disease is a chronic inflammatory disorder of the gastrointestinal tract. It may affect any portion of the gastrointestinal tract from the mouth to the anus. Symptoms typically include cramping abdominal pain, diarrhea (which may be bloody) and nausea. As the severity of the illness worsens, patients may experience constant abdominal pain, vomiting, weight loss and fever. From the perspective of the patient, disease symptoms significantly impair quality of life, and interfere with the...

  11. Medical treatment of perianal crohn disease

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    Al-Ghamdi Abdullah


    Full Text Available Crohn disease is a chronic illness that affects the gastrointestinal tract from the mouth to the anus. Perianal Crohn develops in 31-94% of patients over the course of their illness. It affects the skin in the perianal area, the anal canal and can cause fistulae. It is diagnosed clinically and by other modalities like endoscopy, barium CT scan, endoscopic sonography and magnetic resonance image examination. The treatment of perianal Crohn disease is either medical or surgical. The current medical treatment will be reviewed in this article


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    Full Text Available Anal disease complex consists of anal symptoms of the patient and the findings by the surgeon. Every individual in his lifetime would have had anal discomfort ranging from pain to bleeding per anus but statistics of anal disease complex in less available. The drawback regarding anal disease is, patient presents with more than one symptom and more than one finding co- exist and the patient gets treated for his complaints from family physician up to super specialist. AIM OF THE STUDY: To find out the commonest presentation and the commonest findings by the surgeon. MATERIAL AND METHOD: In this retrospective study we analyzed 200 of our patients presented to surgical OPD with anal symptoms. RESULT: From our study we found out the commonest symptom presentation was Painful defecation with bleeding per anus and the commonest finding was Fissure in ano.

  13. Nursing experience of perioperative period of radical cure through anus of congenital megacolon in children%经肛门根治小儿先天性巨结肠的围术期护理

    Institute of Scientific and Technical Information of China (English)



    Objective: To discuss nursing experience of perioperative period of radical cure through anus of congenital dilatation of colon of the wean. Methods: Aborative nursing before surgery and after surgery were carried out to 32 weans megacolon in children. Results: All children got successful radical cure through anus. After 3-6 months's following—up, all of them had good defecate controlling and normal appetite. None of them had anastomotic stricture. Conclusion: Aborative nursing of perioperative period is important for the radical cure of megacolon in children.%目的:探讨经肛门根治小儿先天性巨结肠的围术期护理方法.方法:对32例先天性巨结肠的手术患儿进行精心的术前术后护理.结果:32例患儿均经肛门完成根治手术,术后3~6个月随访,所有患儿排便控制良好,食欲正常,无一例发生吻合口狭窄.结论:精心的围术期护理对经肛门根治先天性巨结肠患儿的康复具有重要意义.

  14. The application of Da Vinci robotic surgical system in anus preserving operation of ultra low rectal ;cancers%达芬奇机器人在超低位直肠癌保肛手术中的应用

    Institute of Scientific and Technical Information of China (English)

    曾冬竹; 张超; 唐波; 甘露; 陈华; 雷晓; 罗华星; 兰远志; 余佩武


    Objective To explore the application of Da Vinci robotic surgical system in anus preserving operation of ultra low rectal cancers.Methods Systematically review the 52 patients who underwent the ultra low APR with the Da Vinci robotic surgical system.The general situation, operations, complications,recovery and pathological feature were analyzed.Results All the 52 patients went through the operation successfully with no conversion, and their anus were preserved.The average operation time was 193.7 ±43.2 mins.The blood loss wsa 65.5 ±29.3 ml.The average number of harvested lymph nodes was 18.2 ±5.6.The average distance to tumor is 2.4 ±0.2cm without cancer cell residuing.The post operation complication ratio is 13.5%(7 in 52),in which 5 cases developed anomostosis leakage,1 case pulmonary infection and 1 case urine retention.Conclusion The Da Vinci robotic surgical system in anus preserving operation of ultra low rectal cancers is convenient,safe,with fast recover and small trauma.%目的:探讨达芬奇机器人手术系统在超低位直肠癌保肛手术中的作用。方法回顾分析第三军医大学西南医院于2010年3月至2014年6月应用达芬奇机器人手术系统完成52例超低位直肠癌前切除手术患者的临床资料。对患者的一般资料、手术情况、并发症的发生、术后恢复及病理性资料进行分析评估。结果52例患者均顺利完成前切除保肛手术,无中转开腹;手术时间193.7±43.2 min,术中出血量65.5±29.3 ml。淋巴结清扫18.2±5.6枚。远切缘距肿瘤2.4±0.2 cm、无癌细胞残留。术后并发症发生率为13.5%(7/52),其中吻合口瘘5例、肺部感染1例,尿潴留1例,无死亡病例。结论达芬奇机器人手术系统在超低位直肠癌的前切除保肛手术中操作简便安全、创伤小、术后恢复快。

  15. 肛周脓肿合并糖尿病手术前后的护理%Diabetes Mellitus of Anus Week Abscess of Nursing before and after Opera-tion

    Institute of Scientific and Technical Information of China (English)



    Objective To study the crissum abscess diabetes mellitus before and after surgery nursing effect. Methods March 2012 to September 2015, our hospital the 60 cases of anus week abscess patients with diabetes mellitus as the research object, were randomly divided into the 30 patients of control group and observation group, control group using conventional nursing measures, observation group adopts the whole nursing intervention, to observe the nursing effect of two groups of patients. Results The observation group of patients with diabetes mellitus abscess of anus week abscess disappeared time (12.68±1.71) d, length of hospital stay (26.23±1.52) d (90.00%) and nursing satisfaction is better than the control group (P< 0.05). Conclusion Giving crissum abscess patients with diabetes mellitus preoperative nursing, postoperative can effectively shorten the hospitalization time of patients and improve nursing satisfaction.%目的:探讨肛周脓肿合并糖尿病手术前后的护理效果。方法选取2012年3月-2015年9月该院收治的60例肛周脓肿合并糖尿病患者作为研究对象,随机分为各有30例患者的对照组和观察组,对照组采用常规护理措施,观察组采用全程护理干预,观察两组患者的护理效果。结果观察组肛周脓肿合并糖尿病患者脓肿消失时间(12.68±1.71)d、住院时间(26.23±1.52)d及护理满意度(90.00%)明显优于对照组(P<0.05)。结论给予肛周脓肿合并糖尿病患者术前术后护理,可有效缩短患者的住院时间,提高护理满意度。


    DEFF Research Database (Denmark)

    Pletscher-Frankild, Sune; Pallejà, Albert; Tsafou, Kalliopi;


    Text mining is a flexible technology that can be applied to numerous different tasks in biology and medicine. We present a system for extracting disease-gene associations from biomedical abstracts. The system consists of a highly efficient dictionary-based tagger for named entity recognition...... of human genes and diseases, which we combine with a scoring scheme that takes into account co-occurrences both within and between sentences. We show that this approach is able to extract half of all manually curated associations with a false positive rate of only 0.16%. Nonetheless, text mining should...... not stand alone, but be combined with other types of evidence. For this reason, we have developed the DISEASES resource, which integrates the results from text mining with manually curated disease-gene associations, cancer mutation data, and genome-wide association studies from existing databases...

  17. Intensity-modulated radiation therapy for anal carcinoma; Radiotherapie conformationnelle avec modulation d'intensite des cancers de l'anus

    Energy Technology Data Exchange (ETDEWEB)

    Peiffert, D.; Moreau-Claeys, M.V.; Tournier-Rangeard, L.; Huger, S.; Marchesi, V. [Departement de radiotherapie, centre Alexis-Vautrin, 6, avenue de Bourgogne, 54511 Vandoeuvre-les-Nancy cedex (France)


    Anal canal carcinoma are highly curable by irradiation, combined with chemotherapy in locally advanced disease, with preservation of sphincter function. The clinical target volume for the nodes is extended, often including the inguinal nodes, which is not usual for other pelvic tumours. Acute and late effects are correlated with the volume and dose delivered to organs at risk, i. e. small bowel, bladder and increased by concomitant chemotherapy. Intensity modulated irradiation (IMRT) makes it possible to optimize the dose distribution in this 'complex U shaped' volume, while maintaining the dose distribution for the target volumes. The conversion from conformal irradiation to IMRT necessitates good knowledge of the definition and skills to delineate target volumes and organs at risk, including new volumes needed to optimize the dose distribution. Dosimetric and clinical benefits of IMRT are described, based on early descriptions and evidence-based publication. The growing development of IMRT in anal canal radiotherapy must be encouraged, and long-term benefits should be soon published. Radiation oncologists should precisely learn IMRT recommendations before starting the technique, and evaluate its early and late results for adverse effects, but also for long-term tumour control. (authors)

  18. 腹腔镜手术治疗先天性无肛并直肠尿道瘘15例%Laparoscopic operation for the treatment of congenital imperforate anus and rectum of urethral fistula.

    Institute of Scientific and Technical Information of China (English)

    陈快; 黄金狮; 陶俊峰; 樊伟; 刘智文; 徐美汉; 刘玉; 陶强


    目的 探讨腹腔镜辅助下瘘修补+直肠拖出肛门成形术治疗先天性无肛并直肠尿道瘘的可行性.在腹腔镜监视下,电灼游离直肠至瘘管颈部,缝扎后离断直肠尿道瘘管,电刺激仪引导下定位盆底肌中心,将直肠从盆底肌中心拖出形成肛门.15例均在腹腔镜辅助下完成肛门成形术,腹腔镜操作时间(108±16)min,出血量<5 mL,无需要输血者.术后(7~10)d拔除尿管,术后住院时间6~15 d,平均(11.6±0.4)d.术后随访3~22个月,根据kelly评分及直肠肛管测压,肛门功能优9例,良6例.腹腔镜辅助肛门成形术,能准确辨别盆底肌群中心,避免损伤肌肉,创伤小,对于直肠膀胱颈部瘘及尿道前列腺部瘘而言,处理瘘管方便,但对尿道球部瘘显露较困难.%Objetive To discuss the feasibility of laparoscopically assisled anoreclal pull - ihrough in the Irealmenl of imperforale anus wilh a reclourelhral fislula. Methods Laparoscopic sharp disseclion and caulery were used to expose the reclal pouch down to the urelhral fislula, which was divided and ligaled. By e-leclrical slimulalion instrument, separate the center of pelvic floor muscle to form the tunnel where the rectum which was exteriorized to the perineum was through by. And then anorectal anastomosis was performed. Results 15 cases were completed anal forming technique assisted by laparoscopic. The mean time for the laparoscopic dissection was ( 108 ±16) minutes. The mean blood loss of the operation was 5 ml and blood transfusion was unnecessary, leases of the postoperatives with urethral fistula, the others remove catheter in 7 ~ 10 d, recovered uneventfully in the sixth to fifteenth day. They were followed up for 3 to 22 months, according to kelly score and Measuring pressure of the rectal. Anal function excellent in 9 cases, good in 6 cases. Conclusions Laparoscopically assisted anorectal pull-through is aneffective technique for the treatment of high imperforate anus. Short

  19. Inflammatory Bowel Disease (United States)

    ... breaks down food into nutrients . Nutrients include proteins , carbohydrates , fats , vitamins , and minerals . The body needs nutrients for energy and to stay healthy. The digestive tract runs from the mouth to the anus. When you eat food, it ...

  20. 低位直肠癌保肛术后排便功能及生活质量状况的临床研究%Clinical research about bowel function and life quality in low rectal cancer anus preservation operation

    Institute of Scientific and Technical Information of China (English)

    黄志养; 金捷; 黄智铭; 朱丽明; 朱方超


    术后 RP 维度[3个月:(58.29±40.15)、6个月:(59.48±41.07)、1年:(60.17±42.15),与对照组相比,t 值分别为4.1、2.9、2.7,P 值均<0.05]。结论低位直肠癌保肛术后患者的肛门功能和生活质量均受一定影响,短期为著,部分患者长期生存的生活质量明显下降,有必要进行术前充分评估、术后排便功能锻炼或生物反馈治疗等。%Objective To investigate the condition of defecation function,psychological health and quality of life about patients who underwent low rectal cancer anus preservation operation.Methods We randomly selected 40 cases from patients who went to do rectal cancer anus preservation operation as observation group,who received e-valuation with bowel habit questionnaire (the result using Zhong-fa Xu anal function evaluation method which widely used for subjective evaluation),SF-36 scoring systems at 2 weeks before surgery,postoperative 3 months,6 months, 1 year,and the anorectal manometry postoperative 3 months,6 months,1 year.The normal controls were 40 healthy people without anus-rectal disease and disordered defecation,investigated and detected at the same time point.Results Compared with the control group,the ARP,MSP,RAIA,MTV of the observation group significantly decreased(P 0.05).Compared with the control group,in the preoperation,the results of anal function evaluation method and SF-36 scoring systems had no significant differences.Based on the Zhong-fa Xu anal function evaluation,we could draw the following conclusions:anal function was impaired obviously in postoperative 3 months (fine rate was 62.5%,χ2 =16.08,P 0.05),but the scores of PF and RF dimension were lower than those of the healthy con-trols:postoperative PF dimension[3 months:(80.12 ±15.12),6 months:(82.19 ±17.01),and 1 year:(83.13 ± 17.12),compared with the control group,t =4.5,3.1,2.5 respectively],postoperative RP dimension [3 months:(58.29 ±40.15),6 months:(59.48

  1. Analysis on 57 cases of saving anus surgery for rectal cancer patients incorporated diabetes%57例直肠癌合并糖尿病的保肛治疗分析

    Institute of Scientific and Technical Information of China (English)

    刘忠亮; 方向; 陈玉祥; 李俊


    目的 探讨降低合并糖尿病的直肠癌患者保肛手术后吻合口瘘和感染的发生率.方法 将57例合并糖尿病的直肠癌患者,在术前、术中和术后均严密监测血糖并严格控制血糖在规定范围内.结果 本组术后发生吻合口瘘1例,发生切口感染3例,泌尿系感染3例,肺部感染1例.结论 对于合并糖尿病的直肠癌患者,只要在术前、术中和术后均严密监测血糖并严格控制血糖在规定范围内,就能降低保肛手术后吻合口瘘和感染的发生率.%Objective To discuss how to decrease the incidence rate of marginal ulcer and infection after saving anus surgery for rectal cancer patients incorporated diabetes. Methods 57 cases of rectal cancer patients incorporated diabetes were closely monitor blood sugar and keep it in rated rage before. during and after operation. Results 1 case of marginal ulcer, 3 cases of infection of incisional wound, 3 cases of urinary infection, and 1 case of pulmonary infection occurred after the surgery. Conclusion For rectal cancer patients incorporated diabetes, the incidence rate of marginal ulcer and infection can be lowered as long as blood sugar is closely monitored and is kept in rated rage before, during and after the surgery.

  2. Diagnosis and treatment of perianal Crohn disease: NASPGHAN clinical report and consensus statement. (United States)

    de Zoeten, Edwin F; Pasternak, Brad A; Mattei, Peter; Kramer, Robert E; Kader, Howard A


    Inflammatory bowel disease is a chronic inflammatory disorder of the gastrointestinal tract that includes both Crohn disease (CD) and ulcerative colitis. Abdominal pain, rectal bleeding, diarrhea, and weight loss characterize both CD and ulcerative colitis. The incidence of IBD in the United States is 70 to 150 cases per 100,000 individuals and, as with other autoimmune diseases, is on the rise. CD can affect any part of the gastrointestinal tract from the mouth to the anus and frequently will include perianal disease. The first description connecting regional enteritis with perianal disease was by Bissell et al in 1934, and since that time perianal disease has become a recognized entity and an important consideration in the diagnosis and treatment of CD. Perianal Crohn disease (PCD) is defined as inflammation at or near the anus, including tags, fissures, fistulae, abscesses, or stenosis. The symptoms of PCD include pain, itching, bleeding, purulent discharge, and incontinence of stool. In this report, we review and discuss the etiology, diagnosis, evaluation, and treatment of PCD.

  3. Anus-preserving surgery with anal intersphincteric resection in the treatment of ultra-low rectal cancer%内括约肌切除保肛术治疗超低位直肠癌52例临床研究

    Institute of Scientific and Technical Information of China (English)

    李世拥; 徐一石; 崔伟; 梁振家; 苑树俊; 于波; 陈纲; 陈光; 左富义; 白雪; 魏晓军


    Objective To study clinical therapeutic effects of anus-preserving operation with resecting anal intersphincter to treat ultra-low rectal cancer through abdominal cavity. Methods We retrospectively analyzed 52 cases of ultra-low rectal cancer, with the inferior border of the cancers within 2 cm to anocutaneous line or 5 cm to the edge of anus treated by anus-preserving operation with resecting archos internal sphincter muscles through abdominal cavity and anus. There were 29 males, and 23 females, with age 28 to 76 years old, averaging 56. 3 years old. The inferior border of the cancer were within 4 cm to the edge of anus in 18 cases, including 6 cases of adenoma cancerization, and 5 cm to the anus in 34 cases. Pathologic diagnosis was well-differentiated adenocarcinoma in 21 cases, moderately differentiated in 29 cases, low differentiated in 2 cases, there were 6 cases with adenoma cancerization. 28 cases were Dukes A stage, and 24 B stage. Results The follow-up rate was 88. 4% (46/52), and the median time was 5.9 years. 2 case developed stoma leak (3.8%), and 3 developed stoma stenosis(5.7% ) after operation. The anus could roughly control defecation in 6 ~ 12 mouths after operation. The local recurrence rate was 5.7%, and the 5-year-survival rate was 72.7%. Conclusion By anus-preserving operation with resecting archos internal sphincter muscles, defecation controlling was well reserved by anus, and the 5-year-survival rate was not cut down. This operation is one of the safe and effective operations of anus-preserving procedure.%目的 探讨经腹肛门切除肛门内括约肌的直肠癌根治保肛术治疗超低位直肠癌的临床疗效.方法 对52例癌灶下缘距肛缘4~5 cm的超低位直肠癌经腹肛门切除肛门内括约肌加结肠套叠重建内括约肌保肛术进行临床分析.52例中男29例,女23例.年龄28~76岁,平均为56.3岁.癌灶下缘距肛缘4 cm 18例,癌灶下缘距肛口5 cm 34例.病理诊断直肠腺癌52

  4. The hidden mortality of imperforate anus

    Directory of Open Access Journals (Sweden)

    Nikki Beudeker


    Full Text Available Background: Anorectal malformations (ARMs affect 1 in 4000-5000 births and are a big challenge in western countries. However, little is known about ARMs in Africa. The aim of this study is to evaluate the incidence, treatment and outcome of ARMs in Malawi. Materials and Methods: Over a 4-year period (2006-2009, data was extracted from patients up to and including the age of 5 years or less who underwent a colostomy, posterior sagittal anorectoplasty or colostomy closure. Results: Of the data that could be retrieved 46 patients met the criteria of congenital ARMs; 65.2% were female (N = 30 and 34.8% were male (N = 16. The median distance from patient to the hospital was 79 km and the median age at presentation was 24 days. In female patients: The most common ARM was the vestibular fistula (N = 21; 70%, a recto-vaginal fistula was found four times, a cloaca was found three times and a perineal fistula or no fistula were both found once each. The most common ARM among boys was the recto-urethral fistula (N = 10. Two boys had no fistula. A perineal fistula and a recto-vesical fistula were both found once each. Nearly, half of the patients (N = 22 had complications. Complications occurred less often in the group, which lived closest to the Surgical Unit (25%. Associated anomalies were found in one patient. Conclusion: This study shows a skewed distribution of age at presentation and type of ARM. The most likely explanations are (1 the distance to the hospital: Because none of the male patients presented after 4 weeks and many may have passed away before arriving at the tertiary care centre; (2 lack of knowledge among primary caregivers since very few patients with rectoperineal fistulas were seen. The rate of complications was high, probably also related to advance age at presentation. Therefore, Malawi needs more awareness for earlier detection and quicker intervention.

  5. 双氯芬酸钠栓计划性纳肛对妇科患者术后预镇痛及康复的影响%Effect of planned using diclofenac sodium suppositories via anus on preemptive analgesia and rehabilitation for patients after gynecologic operation

    Institute of Scientific and Technical Information of China (English)



    目的 探讨双氯芬酸钠栓计划性纳肛对妇科患者术后预镇痛及康复的影响.方法 将218例患者按手术日单双号分为观察组109例和对照组96例,对照组术后给予硬膜外镇痛泵镇痛,观察组术后在拔除硬膜外导管即刻和术后6h、18 h、30 h给予双氯芬酸钠栓50 mg纳肛预镇痛.结果 两组患者疼痛评分、术后生理功能恢复状况及镇痛不良反应(除出汗)比较,差异有统计学意义.结论 双氯芬酸钠栓计划性纳肛对妇科患者术后预镇痛效果较好,能促进患者康复.%Objective To study the effect of planned using diclofenac sodium suppositories in anus on preemptive analgesia and rehabilitation for patients after gynecologic operation.Method Divide 218 patients into observation group (n=109) and control group (n=96) according to even or odd hospitalizing date.Patients in control group receive post-operation analgesia by epidural analgesia pump.Patients in observation group use diclofenac sodium suppositories 50mg in anus at removal of epidural catheter and 6h, 18h and 30h after operation.Result There is significant difference on scores of pain, rehabilitation of post-operative physical function and adverse reactions of analgesia (except sweating) between two groups.Conclusion Planned using diclofenac sodium suppositories in anus has a good preemptive analgesia effect and can improve health for patients after gynecologic operation.

  6. Crohn's disease confined to the duodenum: A case report. (United States)

    Song, Dong Jin; Whang, Il Soon; Choi, Hyung Wook; Jeong, Cheol Yun; Jung, Sung Hoon


    Crohn's disease (CD) can involve any part of the gastrointestinal tract from the mouth to anus. However, gastroduodenal CD is rare with a frequency reported to range between 0.5% and 4.0%. Most patients with gastroduodenal CD have concomitant lesions in the terminal ileum or colon, but isolated gastroduodenal Crohn's disease is an extremely rare presentation of the disease accounting for less than 0.07% of all patients with CD. The symptoms of gastroduodenal CD include epigastric pain, dyspepsia, early satiety, anorexia, nausea, vomiting, and weight loss. The diagnosis of gastroduodenal CD requires a high level of clinical suspicion and can be made by comprehensive clinical evaluation. Here we report a rare case of isolated duodenal CD not confirmed by identification of granuloma on biopsy, but diagnosed by clinical evaluation.

  7. 磁共振T2WI压脂及T1WI压脂增强序列在肛痈及肛漏诊断中的价值%The Value of Mri T2WI Pressure Grease and Fat Enhanced T1WI Pressure Sequence in Diagnosis of Anus Carbuncle and Anal Leakage

    Institute of Scientific and Technical Information of China (English)



    目的:分析磁共振T2WI压脂及T1WI压脂增强序列在肛痈及肛漏诊断中的价值。方法:41例肛痈及肛漏患者均行常规及Gd-DTPA增强磁共振检查,经手术证实,对以上各磁共振扫描序列组合对各种类型肛痈、肛漏及其内口的检出率进行统计分析。结果:肛痈32个,肛漏26个。对于肛痈、肛漏检出率,矢状位平扫及增强T1Wl压脂序列与手术结果比较差异均有统计学意义(P0.05)。结论:轴位联合冠状位T2WI压脂序列及T1WI压脂增强扫描序列可明显提高肛痈、肛漏临床诊断正确率,为手术方式的最佳选择提供科学信息。%Objective:To analyze the value of mri T2WI pressure grease and fat enhanced T1WI pressure sequence in diagnosis of anus carbuncle and anal leakage.Method:41 patients with anal carbuncle and anal leakage both conventional and Gd-DTPA enhanced magnetic resonance examination,confirmed by surgery,the combination of all mri scanning sequences of various types of anal abscess in mouth,anus leakage and its detection rate were analyzed. Result:Anal carbuncle was 32,anal leakage was 26.For abscess,anal leakage inspection rate,sagittal scan and enhanced T1Wl pressure grease series all had significant difference compared with surgical results(P0.05).Conclusion:Shaft joint coronary bits fat T2WI pressure fat sequence and T1WI enhancement scan sequence can obviously improve the anus carbuncle,anal leakage clinical diagnostic accuracy, provide scientific information for the best choice of the surgical procedure.

  8. 肛门正常的直肠前庭瘘病因及治疗方法多中心回顾性分析%Multicenter Retrospective Analysis of Pathogenesis and Treatment of Rectovestibular Fistula with Normal Anus

    Institute of Scientific and Technical Information of China (English)

    李乐; 余家康; 朱德力; 张廷冲; 陈亚军


    目的 评估肛门正常的直肠前庭瘘(RVFNA)的治疗方法,探讨RVFNA的发病原因.方法 回顾性分析2006年1月-2012年1月收治的206例RVFNA患儿的临床资料.年龄3个月~15岁.其中23例患儿曾于外院接受手术治疗失败.181例患儿出生3个月内有明确会阴部感染史,之后在排气或排稀便时前庭部有气体或少量粪便漏出.77例患儿会阴部感染之前曾有腹泻.198例前庭有1个瘘口,8例具有2个瘘口,瘘口之间有皮桥相连.患儿内口均在齿状线以上.173例外口直径<5 mm.本组102例行经肛门直肠前庭瘘修补术,87例行经会阴直肠前庭瘘修补术,17例行会阴成形术,均未出现术后会阴体开裂.结果 29例术后4~10d前庭瘘复发,其中12例通过每日3次硼酸溶液坐浴治疗自愈,另17例再次手术修补.电话或门诊随访2个月~3 a,患儿排便功能均正常.结论 RVFNA大多是因后天感染获得而不是先天性疾病.采用经肛门或经会阴前庭瘘修补术疗效较为满意.复杂的会阴修补术和肠造瘘术对多数RVFNA患儿是不必要的.%Objective To explore the treatment and discuss the pathogenesis of rectovestibular fistula with normal anus ( RVFNA). Methods From Jan. 2006 to Jan. 2012,206 female patients with RVFNA were collected. The patients' ages ranged from 3 months to 15 years. Twenty — three children previously had a failed previous operation in other institutions. One hundred and eighty — one patients had a definite history of vulvar inflammation within 3 months after birth and fecal leakage thereafter;in 77 patients,a perineal abscess appeared after an episode of diarrhea. One hundred and ninety - eight patients had 1 external opening, whereas 8 others had 2 external openings separated by a skin bridge. In all the cases,the internal orifice opened above the dentate line. The fistula in 173 cases presented as an opening with a small diameter ( <5 mm). In the series,vestibular — rectal pull

  9. 开塞露纳肛及尽早活动法对剖宫产术后肛门排气的临床效果观察%Clinical observation the effect of glycerine enema and activity earlier in the anus exhaust after cesarean section

    Institute of Scientific and Technical Information of China (English)



    目的:探讨开塞露纳肛及尽早活动法对剖宫产术后缩短肛门排气时间的效果。方法:将150例剖宫产术后产妇随机分为A、B、C三组。A组术后6小时给予开塞露纳肛;B组术后6~8小时给予开塞露纳肛及开始活动;C组为对照组,不施加任何因素。观察各组肛门排气时间。结果:A、B、C组术后肛门平均排气时间分别为24.32小时、16.92小时、33.76小时。B组肛门排气时间短于A组、明显短于C组,(P<0.01)。结论:剖宫产术后产妇采用开塞露纳肛及尽早活动,明显缩短肛门排气时间,消除腹胀,有利于产后身体康复。%Objective:To explore the effects of glycerine enema and activity as early as possible on anal exhaust time after cesarean section. Methods:150 cases of lying-in women after cesarean section were randomly divided into A, B, C three groups. group A use glycerine enema After 6 hours. ±Group B use glycerine enema after 6 ~ 8 hours and start activities. As the control group, group C not exert any factors. Observe each group anal exhaust time. Results:That A, B, C group of postoperative anal exhaust the average time is 24.32 hours, 16.92 hours and 33.76 hours respectively. Anal exhaust time of group B is shorter than, significantly shorter than group C ﹙P<0.01﹚. Conclusions:Maternal anus uses glycerine enema after cesarean section and activities as soon as possible, obviously shorten the anus exhaust time, eliminate abdominal distension, postpartum body rehabilitation.

  10. [Natural history of intestinal lesions in inflammatory bowel disease]. (United States)

    Beaugerie, Laurent


    Crohn's disease may involve any part of the digestive tract from mouth to anus, but affects mainly the distal ileum and the,colon. At diagnosis, perianal lesions are observed in 20% of the cases. During the disease course, strictures develop in the majority of patients with ileal disease, while penetrating lesions (fistulas and abscesses) develop in half of the patients. Only one third of patients with colonic involvement will develop structuring or penetrating lesions. Intestinal lesions of ulcerative colitis involve constantly the rectum and may extend continuously throughout the colon. At diagnosis, lesions involve the rectum, the left colon and most of the colon in similar proportions. Subsequent extension of the lesions over 20 years is observed in half of the patients. In Crohn's disease, 40%-50% of the patients require intestinal resection at 10 years. The risk of colectomy in ulcerative colitis is about 1% per year Dysplasia and cancer may complicate longstanding extensive colonic lesions in Crohn's disease and ulcerative colitis. Malignant transformation of chronic inflammatory lesions may also occur in patients with longstanding lesions of the small bowel in Crohn's disease.

  11. A case of Crohn's disease involving the gallbladder

    Institute of Scientific and Technical Information of China (English)

    Akira Andoh; Yoshihiro Endo; Ryoji Kushima; Kazunori Hata; Tomoyuki Tsujikawa; Masaya Sasaki; Eiji Mekata; Toru Tani; Yoshihide Fujiyama


    Crohn's disease is well known to affect any part of the gastrointestinal tract including the oral cavity and anus.Various extraintestinal complications have been reported in Crohn's disease, but extraintestinal involvement characterized by granulomatous lesions is uncommon. Here, we have reported a case about the involvement of the gallbladder in Crohn's disease. A 33-year-old woman was diagnosed having panperitonitis due to intestinal perforation and cholecystitis. The patient was moved to the surgical service for an emergency operation. On the resected specimen, there was a broad longitudinal ulcer at the mesenteric side. The mucosa of the gallbladder was nodular and granular, and the wall was thickened.The surface epithelium of the gallbladder was partially eroded and pyloric gland metaplasia was observed focally. Rokitansky-Aschoff sinuses were also present.From the lamina propria to the subserosal layer, there were several well-formed epithelioid cell granulomas,which were the non-caseating sarcoidal type different from the foreign-body and xanthomatous granulomas.Periodic-acid Schiff and acid fast stains revealed no organism within the granulomas. Lymphoid aggregates were present throughout the gallbladder wall. Sections from the resected ileum showed typical features of the Crohn's disease. When cholecystectomy is performed in a patient with Crohn's disease, the possibility of gallbladder involvement should be carefully examined by histopathological tests.

  12. Second Korean guidelines for the management of Crohn's disease (United States)

    Park, Jae Jun; Ye, Byong Duk; Kim, Jong Wook; Park, Dong Il; Yoon, Hyuk; Im, Jong Pil; Lee, Kang Moon; Yoon, Sang Nam; Lee, Heeyoung


    Crohn's disease (CD) is a chronic, progressive, and disabling inflammatory bowel disease (IBD) with an uncertain etiopathogenesis. CD can involve any site of the gastrointestinal tract from the mouth to the anus, and is associated with serious complications, such as bowel strictures, perforations, and fistula formation. The incidence and prevalence rates of CD in Korea are still lower compared with those in Western countries, but they have been rapidly increasing during the recent decades. Although there are no definitive curative modalities for CD, various medical and surgical therapies have been applied for the treatment of this disease. Concerning CD management, there have been substantial discrepancies among clinicians according to their personal experience and preference. To suggest recommendable approaches to the diverse problems of CD and to minimize the variations in treatment among physicians, guidelines for the management of CD were first published in 2012 by the IBD Study Group of the Korean Association for the Study of Intestinal Diseases. These are the revised guidelines based on updated evidence, accumulated since 2012. These guidelines were developed by using mainly adaptation methods, and encompass induction and maintenance treatment of CD, treatment based on disease location, treatment of CD complications, including stricture and fistula, surgical treatment, and prevention of postoperative recurrence. These are the second Korean guidelines for the management of CD and will be continuously revised as new evidence is collected. PMID:28239314

  13. Clinical Pathological Analysis for the Anorectal Disease in 1245 Cases%1245例肛肠疾病患者的临床病理分析

    Institute of Scientific and Technical Information of China (English)

    何敬; 周铁明


    Objective Through to the 1245 cases of anorectal diseases of clinical pathology report for analysis, discussion of the anus bowel disease pathogenesis regularity.Methods Retrospectie study 1245 cases of anorectal disease of clinical pathology report records, according to classify different gender, age and disease to together, analysis the age and gender and the distribution of between disease.Results Detection of 16 related anus bowel disease ,there are certain differences between age and gender and diseases.Conclusion The common situation analysis of the pathology of anorectal disease can guide clinical understanding the pathology spectrum and turnover by pathology results give reasonable treatment.%目的:通过对1245例肛肠疾病患者的临床病理报告进行分析,探讨肛肠疾病的病理发病规律。方法回顾性分析研究1245例肛肠疾病患者的临床病理报告记录,按不同性别、年龄及病种进行分类归总,分析各年龄段及性别和病种之间的分布情况。结果共检出16种相关肛肠疾病病理病种,各病种和性别及年龄之间存在一定的差异。结论对常见肛肠疾病的病理情况分析能指导临床了解此疾病的病理、病谱及病情的转归且通过病理结果合理地给与治疗。

  14. Research on modified loop ileostomy with single incision in low rectal cancer patients with laparoscopic radical resection of anus preservation%低位直肠癌腹腔镜下根治保肛术中改良襻式单一切口末端回肠造口定位的研究

    Institute of Scientific and Technical Information of China (English)

    方方; 王晓岚; 徐亚香


    Objective To investigate the influence of preoperative location of modified loop ileostomy with single incision on the complications and nursing of low rectal cancer patients with la-paroscopic radical resection of anus preservation.Methods The location of 78 patients with modi-fied preventive ileostomy with single incision was 2~3 cm above the McBurney point with 15~20° angular inside.Results There was one case with stoma hernias,three cases with stoma dermati-tis,four cases with stoma infection,more than 80% of the patients had no discomfort or had mild discomfort.Conclusion Correct preoperative location before stoma is easy to nurse and could re-duce the occurrence of stoma complications.%目的:观察直肠癌根治术单一切口预防性回肠造口术术前定位对患者术后造口并发症及护理的影响。方法对78例直肠癌根治术单一切口预防性回肠造口术患者进行术前于麦氏点上方2~3 cm,向内侧成15~20°角定位。结果本组发生造口旁疝1例,造口周围皮肤炎3例,造口感染4例,80%以上患者无不适或有轻度不适。结论造瘘口术前正确定位便于护理,可减少造口并发症的发生。

  15. Disease: H00685 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available syndrome is an autosomal recessive condition of nasal anomalies associated with renal and anorectal malformations.... Patients have renal agenesis, anorectal malformations ranging from anteriorly placed anus with steno...d nose, renal agenesis, and anorectal malformations syndrome. Am J Hum Genet 85:414-8 (2009) PMID:11822703 (...sociated with renal and anorectal malformations. Clin Dysmorphol 11:33-8 (2002) ...

  16. Disease: H00044 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available s in 2006. Epidemiological and molecular-biology studies have now shown that sexually transmitted infection ...ype) Gervaz P, Hirschel B, Morel P. Molecular biology of squamous cell carcinoma of the anus. Br J Surg 93:5

  17. 12.4.Colon,rectum and anus

    Institute of Scientific and Technical Information of China (English)


    930312 Test of colonic transit for the diagno-sis of constipation.LIU Shixin (刘世信),et al.Binjiang Hosp Tianjin,300022.Natl Med J China 1993;73(2)75—77.This study consists of the design of the ex-perimental markers for the colonic transit andthe application to clinical examination.Themarkers were displayed distinctly in the transittest.The study of clinical application showedthat colonic transit test is of diagnostic value inscreening patients with constipation.The indexof transit test,an authoritatively significant tar-get.has an imnortant valuta for the differential

  18. 12.4.Colon,rectum and anus

    Institute of Scientific and Technical Information of China (English)


    920116 A study on chromosome instabiltyin patients with large bowel carcinoma andlarge bowel adenoma.Li Minglie (李明烈),etal.Shanghai Cancer Instit.Tumor 1991; 11 (5):215-217.The chromosome instability of peripheral lym-phocytes was studied in 10 patients with largebowel carcinoma (LBC),10 patients with large

  19. Anus-rectum defects. Malformaciones ano-rectales.

    Directory of Open Access Journals (Sweden)

    Lidia López Martín

    Full Text Available Anorectal malformations are one of big causes of de intestinal obstruction in newborns. They constitute around 25% of digestive malformations. Have a frequency of 1 in 4000 born alive. They are more frequent in the male (1.4:1 and 40 to 70% of the patients have one or more associate anomalies. We presented the Good Clinical Practices Guideline for Anorectal malformations, approved by consensus in the 2nd National Good Clinical Practices Workshop in Pediatric Surgery (Manzanillo, Cuba, September 31 - October 3, 2002.
    Las malformaciones ano rectales son unas de las grandes causas de obstrucción intestinal en neonatos. Constituyen el 25 % de las malformaciones digestivas. Tiene una frecuencia de 1 x 4 000 nacidos vivos. Son más frecuentes en el varón (1.4:1 y del 40 al 70 % de los pacientes presentan una o más anomalías asociadas. Se presenta la Guía de Buenas Prácticas Clínicas para Malformaciones ano rectales, aprobada por consenso en el 2º Taller Nacional de Buenas Prácticas Clínicas en Cirugía Pediátrica (Manzanillo, 31 de septiembre al 3 de octubre del 2002.

  20. Anus Mundi or Tout-monde? French Guiana

    DEFF Research Database (Denmark)

    Wink, Georg


    In dominant imaginations, French Guiana traditionally fills a position at the extreme margin. From the subaltern perspective from within, complex superpositions of historical, political, and economic as well as ethnic-cultural spaces can be recognized. Postcolonial concepts developed in francophone...... Guianan literature is trying to imagine an emancipated Guianan identity, which includes the transcultural spaces and their actors beyond projected borders. Therefore, French Guiana can be considered a paradigmatic laboratory for the negotiation of identifications and representations of fragmented spaces...

  1. Non-small cell lung carcinoma metastasis to the anus. (United States)

    Dhandapani, Ramya Gowri; Anosike, Chinedum; Ganguly, Akash


    A 70-year-old man presenting with a lung mass was investigated and treated with pneumonectomy for adenocarcinoma of the lung. He re-presented 3 months later with a large perianal abscess and mass. Subsequent investigations and biopsies showed disseminated metastases from the lung primary. Immunohistochemical staining confirmed the nature of the anal metastasis from the lung adenocarcinoma. Lung cancer is notorious for metastases, hence it is important to be aware of the uncommon modes of spread, which will help obtain early diagnosis and optimise treatment.

  2. Anus Mundi or Tout-monde? French Guiana

    DEFF Research Database (Denmark)

    Wink, Georg


    In dominant imaginations, French Guiana traditionally fills a position at the extreme margin. From the subaltern perspective from within, complex superpositions of historical, political, and economic as well as ethnic-cultural spaces can be recognized. Postcolonial concepts developed in francopho...

  3. 肛门直肠周围脓肿行一期手术治疗对术后脓肿的复发率、肛瘘发生率的影响%Influence of the recurrence and incidence of anal fistula rate of abscess after the one stage surgical in the treatment of anus and rectum abscess

    Institute of Scientific and Technical Information of China (English)



    目的:探讨肛门直肠周围脓肿行一期手术治疗对术后脓肿的复发率、肛瘘发生率的影响.方法:收治肛门直肠周围脓肿患者94例,根据手术方式将其分为观察组和对照组各47例,观察组患者给予一期手术治疗,对照组患者给予单纯切开引流术.结果:观察组术后复发、发生后遗肛瘘及术后感染控制时间均较对照组少(P<0.05).结论:对肛门直肠周围脓肿患者行一期手术治疗能有效降低术后脓肿的复发率和肛瘘发生率,明显缩短术后感染控制时间.%Objective:To investigate the influence of the recurrence and incidence of anal fistula rate of abscess after the one stage surgical in the treatment of anus and rectum abscess.Methods:94 patients with anal rectal abscess were selected,they were divided into the observation group and the control group with 47 cases in each group according to the operation mode,the observation group was treated with one stage operation,and the control group was treated with open drainage.Results:The Postoperative recurrence,occurrence of residual fistula and postoperative infection control time of the observation group were less than those of the control group(P<0.05).Conclusion:One stage surgical in the treatment of the patients with anorectal abscess,it can reduce postoperative abscess recurrence rate and incidence of anal fistula effectively,and shorten the postoperative infection control time.

  4. Role of ATG16L, NOD2 and IL23R in Crohn's disease pathogenesis

    Institute of Scientific and Technical Information of China (English)

    Saleh A Naser; Melissa Arce; Anam Khaja; Marlene Fernandez; Najih Naser; Sammer Elwasila; Saisathya Thanigachalam


    Inflammatory bowel disease is a group of diseases that includes Crohn's disease (CD) and ulcerative colitis. CD is characterized as a chronic inflammatory disease of the gastrointestinal tract, ranging from the mouth to the anus. Although there are gross pathological and histological similarities between CD and Johne's disease of cattle, the cause of CD remains controversial. It is vital to understand fully the cause of this disease because it affects approximately 500 000 people in North America and Europe. It ranges from 27 to 48 cases per 100 000 people. There are many theories on the cause of CD ranging from possible association with environmental factors including microorganisms to imbalance in the intestinal normal flora of the patients. Regardless of the environmental trigger, there is strong evidence that a genetic disposition is a major key in acquiring CD. Many studies have proven the link between mutations in the ATG16L, NOD2/CARD15, IBD5, CTLA4, TNFSF15 and IL23R genes, and CD. The purpose of this review is to examine all genetic aspects and theories of CD, including up to date multiple population studies performed worldwide.

  5. Clinical features and management of Crohn's disease in Chinese patients

    Institute of Scientific and Technical Information of China (English)

    郑家驹; 史晓华; 褚行琦; 贾黎明; 王风鸣


    Background An increasing incidence of Crohn' s disease has been found in China in recent years.Our study has been focused on evaluating the diversity of the clinical manifestations of Crohn' s disease in order to improve early diagnostic accuracy and therapeutic efficacy.Methods Thirty patients with active Crohn's disease were enrolled and their clinical data, including diagnostic and therapeutic results, were analyzed. Endoscopy combined with histological examination of biopsy specimens provided characteristic features of the disease. Transabdominal bowel sonography (TABS) was used for detecting intestinal complications. Nutritional supportive therapy was given to 20 subjects with active cases of the disease.Results Most patients were young adults with a higher proportion of females to males (ratio: 1.14:1). The disease affects any segment or a combination of segments along with the alimentary tract(from the mouth to the anus). In this study, the colon and small bowel were the major sites involved.Recurrent episodes of abdominal pain in the right lower quadrant and watery diarrhea were the most common symptoms. Granulomas were identifiable in nearly one-third (30.8%) of all biopsy specimens. In moderate cases of the disease, remission was achieved more quickly through the use of oral prednisone therapy than with SASP or 5-ASA. Beneficial effects on the host' s nutritional status were observed. Immunosuppressives were used on an individual basis and showed variable therapeutic effects. Sixteen patients had surgery due to intestinal obstruction or failure to respond to drug therapies. Rapid improvement after surgery was reported. Conclusion Endoscopy (with biopsy) and TABS were both crucial procedures for diagnosis. SASP(or 5-ASA) and prednisone were effective as inductive therapies. Azathioprine has demonstrable benefits after induction therapy with prednisone. Surgery, as an alternative treatment, provided another effective choice in selected patients.

  6. Evaluation of anus-preserved procedures on life quality in patients with ultra-low rectal cancer%低位直肠癌保肛手术方式的临床效果及生活质量比较

    Institute of Scientific and Technical Information of China (English)

    高明; 李鹏; 韩方海


    Objective To evaluate the influence of anus-preserved procedures on life quality of patients with low rectal carcinoma.Methods One hundred and forth cases with low rectal carcinoma who underwent double stapling technique(DST) (n =64) or support binding procedure(SBP) (n =50) were selected as our subjects.Patients in both group were undergone total mesorectal excision (TME) to sever mesorectum.Anal Function was assessed by Xu Zhongfa Anal-Function's criterion after operation.All patients were performed a 5 years follow-up.Results The 5-years survival rate and local recurrence rate were 65.63% (37/64),20.03% (13/64) respectively in DST group,and 76.0% (38/50),6.0% (3/50) in SBP group.The differences were significant (P =0.049,0.032).The postoperative general occurrence rate of dysuria,dysporia and sexual disorder in the DST group were 31.25% (20/64),17.19% (11/64) and 45.31% (29/64) respectively,higher than those of SBP group(14.00% (7/50),4.00% (2/50) and 26.00% (13/50) ;P =0.037,0.045,0.034).Conclusion Both DST and SBP therapy are proved to be effective in terms of anus-preserved treatment for low rectal cacinoma.5-year survival rate is similar in the two groups,while the survival quality is better in SBP group than in DST group.%目的 探讨低位直肠癌保留肛门手术方式[支撑捆扎法(SBP)和双吻合器法(DST)]的临床疗效及对生活质量的影响.方法 回顾性分析青岛市立医院和广州中山医科大学附属医院大肠癌数据库低位直肠癌114例,其中,DST患者64例(DST组),SBP患者50例(SBP组);两组均采用全直肠系膜切除术(TME),术后采用徐忠法肛门功能标准检测肛门功能,并随访5年.结果 患者术后5年生存率及局部复发率:DST组为65.63% (37/64)、20.03% (13/64),SBP组为76.0%(38/50)、6.0%(3/50),两组比较差异均有统计学意义(P值分别为0.049、0.032).低位直肠癌保肛手术后排尿、排便及性功能障碍发生率:DST组为31.25%(20

  7. Value of external anal sphincter electromyography in assessing anal function of anus-retained operation for rectal cancer%肛门括约肌肌电图检测对直肠癌保肛手术患者术后肛门功能评价的意义

    Institute of Scientific and Technical Information of China (English)

    王永兵; 赵晓晖; 罗芸宝; 朱玉萍; 许佩佩; 郑君华; 李刚


    EAS-EMG存在神经源性损害的直肠癌患者,应高度警惕临床下神经侵犯及转移,加强相关检查及随访。%Objective To explore the value of external anal sphincter electromyography (EAS- EMG) in assessing the anal function of anus-retained operation for rectal cancer. Methods A total of 20 healthy volunteers(group 1) and 60 rectal cancer patients (high rectal cancer, n=20, group 2;mid rectal cancer, n= 20, group 3; low rectal cancer, n = 20, group 4) were en-rolled, which included 45 males and 35 females, aged 31 - 81 years old with mean age of 57.2 years old. Sixty patients were diagnosed with rectal cancer by colonscopy and underwent anus-retained radical resection for rectal cancer without serious complications. Clinical score of anal control function and EAS-EMG were performed at prior to operation, 3-month and 12-month postoperative, meanwhile, immunological index, tumor markers of chest and abdomen CT were also carried out to elimi-nate the cases with tumor recurrence and migrate. Comparative analysis was adopted for clinical score of anal control function and EAS-EMG in each group at various points, and detected the correlation between 2 assessments. Results During 12-month follow-up, 1 case in group 1 was dropped out because of perianal infection at 3-month after operation, 1 case in group 2 was dropped out because of tumor recurrence at 7-month postoperative, 2 cases in group 3 lost to follow-up and 3 cases in group 4 dropped out because of tumor recurrence and migrate at 10-month and 11-month postoperative respectively. Eventu-ally, 73 cases were included (19 cases of group 1, 19 of group 2, 18 of group 3 and 17 of group 4). No EAS-EMG-related ad-verse events were observed in these patients. Amplitude of motor unit action potentials (MUAP) of group 2 prior to operation were significant differences between group 1 and group 3(P<0.05). Amplitude of MUAP at 3-month postoperative was existed differences between group 2 and group 3 (P < 0

  8. Histoclinical basis for a new classification of hemorrhoidal disease. (United States)

    Morgado, P J; Suárez, J A; Gómez, L G; Morgado, P J


    The present classification of first, second, and third grade hemorrhoids only reflects variation in size of a normal human tissue and does not relate to "hemorrhoidal disease." Cross-sections and coronal sections of the anal canal in 32 fetuses, with ages ranging from 28 to 38 weeks of development, were studied and the following fundamental facts were found: in the lumen of the anal canals of fetuses, there are prominences of mucosa formed by conjunctive and muscular tissue, arterial and venous vessels and glands, arranged without following any particular pattern, which resemble similar formations found in the adult that protrude equally in the inside of the canal, known as hemorrhoids. The muscular tissue, smooth or striated, is grouped in bundles, and bunches of collagen fibers of homogeneous, nonfragmented, and regular aspect are found between them. Blood vessels have an ample lumen with a defined structure of collagen tissue as well as muscular tissue in its walls. Prominences of mucosa are connected to the remainder of the intestinal wall by defined conjunctive thick, nonfragmented fibers, that permit firm adherence. In healthy adults, the findings were similar but there was an evident degenerative process in the collagen fibers. In 100 surgical specimens of hemorrhoidectomies, the histologic investigation demonstrated a severe inflammatory reaction that especially affected the blood vessel wall and conjunctive tissue, which probably produced an ischemic lesion of the mucosa that could condition the onset of a vascular thrombosis, allowing displacement of the mucosa and its protrusion through the anus. The files of 815 patients suffering from hemorrhoidal disease were also studied. The main physical findings were bleeding, thrombosis of the internal hemorrhoidal plexus, prolapse of the anal cushions, or a combination of these. The authors propose to classify hemorrhoidal disease as bleeding, prolapsing, thrombotic, and mixed hemorrhoidal disease, aiming toward

  9. Infliximab for the Treatment of Crohn'S Disease: Review and Indications for Clinical Use in Canada

    Directory of Open Access Journals (Sweden)

    Remo Panaccione


    Full Text Available Crohn's disease is a chronic inflammatory disorder of the gastrointestinal tract. It may affect any portion of the gastrointestinal tract from the mouth to the anus. Symptoms typically include cramping abdominal pain, diarrhea (which may be bloody and nausea. As the severity of the illness worsens, patients may experience constant abdominal pain, vomiting, weight loss and fever. From the perspective of the patient, disease symptoms significantly impair quality of life, and interfere with their work environment and activities of daily living. Unfortunately, there is no cure for Crohn's disease. Patients experience a chronic, relapsing course characterized by recurrent flares of their disease. Conventional medical treatment of Crohn's disease includes the use of non-specific anti-inflammatory drugs (5-aminosalicylic acid agents, prednisone, budesonide, immunosuppressives (6-mercaptopurine, azathioprine, methotrexate and antibiotics. A variable onset of action, incomplete response rates and a significant risk of adverse effects characterize current therapies. Although surgery is frequently used to treat complications or medically refractory disease, postoperative recurrence is a common problem. Infliximab, a murine chimeric monoclonal antibody directed toward tumour necrosis factor-alpha, is a highly effective treatment of active Crohn's disease. In randomized, placebo-controlled clinical trials, 33% of patients treated with infliximab 5 mg/kg achieved remission (Crohn's Disease Activity Index score less than 150, compared with only 4% of those receiving placebo (P<0.001. Additionally, infliximab is the only drug therapy shown to be effective for the treatment of fistulizing Crohn's disease. In studies done to date, infliximab appears to be well tolerated and has a favourable side effect profile.

  10. Clinical Features and Extraintestinal Manifestations of Crohn Disease in Children (United States)

    Lee, Young Ah; Chun, Peter; Hwang, Eun Ha; Mun, Sang Wook; Lee, Yeoun Joo


    Purpose The aim of this study was to investigate the clinical features and extraintestinal manifestations (EIMs) of Crohn disease (CD) in Korean pediatric patients. Methods The medical records of 73 children diagnosed with CD were retrospectively reviewed. Data regarding baseline demographic and clinical characteristics, including CD phenotype at diagnosis based on the Montreal classification, and clinical features and course of EIMs were investigated. Results Fifty-two (71.2%) of the patients were males. The mean age of the patients was 12.5 years. The mean follow-up period was 3.4 years. The disease location was ileal in 3 (4.1%) of the patients, colonic in 13 (17.8%), ileocolonic in 56 (76.7%). The clinical behavior was inflammatory in 62 (84.9%) of the patients, stricturing in 8 (11.0%), and penetrating in 3 (4.1%). Perianal abscesses or fistulas were found in 37 (50.7%) of the patients. EIMs observed during the study period were anal skin tag in 25 patients (34.2%), hypertransaminasemia in 20 (27.4%), peripheral arthritis in 2 (2.7%), erythema nodosum in 2 (2.7%), vulvitis in 1 (1.4%), uveitis in 1 (1.4%), and pulmonary thromboembolism in 1 (1.4%). Conclusion Perianal diseases and manifestations were present in more than half of Korean pediatric CD patients at diagnosis. Inspection of the anus should be mandatory in Korean children with suspicious CD, as perianal fistulas, abscesses, and anal skin tags may be the first clue to the diagnosis of CD. PMID:28090468

  11. 结肠内旁路在中低位直肠癌伴急性肠梗阻保肛手术中的应用%Application of intracolonic bypass procedure in anus-preserving operation for acute obstructive low and middle rectal cancer

    Institute of Scientific and Technical Information of China (English)

    董全进; 曹鸿峰; 邓高里; 屠世良; 厉军; 陈永伟; 郑伯安; 袁航; 徐慧英


    % patients (15/42) had stoma complications, and anastomotic stenosis happened in 28.6% patients (12/42) within 6 months after operation, and 7. 1% patients need another operation because of severe anastomosis stenosis. There were no significant differences in rate of anastomosis leakage between tow groups ( P > 0. 05), but there were significant differences in drainage days after anstomosis leakage happened and 6 - months anastomosis stenosis between two groups (P<0.05). Conclusions In the anus -preserving operation for acute intestinal obstruction at low and middle portions of rectum caused by cancer , the intracolonic shunt procedure is convenient and safty, and reduces the hazard incurred by anastomosis leakage and anastomosis stenosis compared with classic stoma operation.

  12. Gaucher disease




    This thesis is about the disease called Gaucher disease, or Morbus Gaucher. There is described the history of the disease, various forms of disease, effect of bones, visceral organs, hematological changes, changes in metabolism etc.; differential diagnosis, diagnosis and therapy.

  13. Hashimoto's Disease (United States)

    ... is Hashimoto’s disease? Hashimoto’s disease, also called chronic lymphocytic thyroiditis or autoimmune thyroiditis, is an autoimmune disease. An ... Points to Remember • Hashimoto’s disease, also called chronic lymphocytic thyroiditis or autoimmune thyroiditis, is an autoimmune disease. • Hashimoto’s ...

  14. The development of colon innervation in trisomy mice and Hirschsprungs disease

    Institute of Scientific and Technical Information of China (English)

    Ji Cheng Li; Kai Hong Mi; Ji Lin Zhou; LC Busch; W KuhnelC


    AIM To study the colon innervation of trisomy16 mouse, an animal model for Downssyndrome, and the expression of protein geneproduct 9.5 ( PGP 9.5) in the stenosed segmentof colon in Hirschsprungs disease (HD).METHODS Trisomy 16 mouse breeding;cytogenetic analysis of trisomy 16 mice; andPGP 9.5 immunohistochemistry of colons oftrisomy 16 mice and HD were carried out.RESULTS Compared with their normalIittermates, the nervous system of colon intrisomy 16 mice was abnormally developed.There existed developmental delay of muscularplexuses of colon, no submucosal plexus wasfound in the colon, and there was 5mmaganglionic bowel aparting from the anus intrisomy 16 mice. The mesentery nerve fiberswere as well developed as shown in their normallittermates. Abundant proliferation of PGP 9.5positive nerve fibers was revealed in thestenosed segment of HD colon.CONCLUSION Trisomy 16 mice could serve asaganglionic bowel in the distal part of colon.Abundant proliferation of PGP 9.5 positive fibersresulted from extrinsic nerve compensation,since no ganglionic cells were observed in thestenosed segment of the colon in HD. HD has agenetic tendency.

  15. Image Spectrum of Anal Ultrasound in Patients with Peri Anal Disease

    Energy Technology Data Exchange (ETDEWEB)

    Jeon, Hae Jeong; Kim, Young Jun; ParK, Hee Sun; Jung, Sung Il; Park, Sang Woo; Choi, Young Chil; Shin, Hyun Joon; Park, Uug Chae [Konkuk University School of Medicine, Seoul (Korea, Republic of); Jin, Yong Hyun [Sung Ae General Hospital, Seoul (Korea, Republic of)


    Endoanal ultrasonography has recently emerged as a popular diagnostic modality for mapping and imaging the anal sphincter. This procedure can be performed as an outpatient procedure: it is relatively quick and virtually painless. The imaging typically is performed in a proximal to distal manner with defining a variety of levels of the anal canal as it progresses. Anal ultrasound can provide a detailed image of the anal sphincter musculature. The internal anal sphincter appears endosonographically as a hypoechoic circular band that is most prominently seen at the level of the mid-anal canal. The external anal sphincter appears as a thicker circular mixed echogenic band outside of the hypoechoic internal sphincter. Anal ultrasound can be used to evaluate patients with anal fistulas with or without abscess. Imaging is performed and the fistulous tracts or abscesses are identified by hypoechogenicity within the external sphincter muscle or the ischiorectal fossa. Its ability to clearly image the anal sphincters has allowed its use for the evaluation of anal fistulas. Moreover, anal ultrasound has emerged as the technique of choice for imaging the anal sphincters and for evaluating incontinence. Each of the individual physiologic tests offers valuable information that is relevant to the continence mechanism, and the ultrasound yields results that are complementary to other tests. Ultrasound serves as a surveillance tool to monitor the results after sphincterplasty. We illustrate the endo-anal sonographic features of various anal diseases and the ultrasound-anatomic correlation for the anus

  16. Anorectal malformation coexisting with Hirschsprung′s disease: A report of two patients

    Directory of Open Access Journals (Sweden)

    Christopher Suiye Lukong


    Full Text Available Anorectal Malformation (ARM and Hirschsprung′s Disease (HD are common causes of congenital intestinal obstruction in children. Simultaneous occurrence of both conditions is rare. Few have been reported in Europe and Asia, but we have no knowledge so far of such report from Nigeria. We present two patients managed in our centre to highlight the challenges of management of this uncommon coexistence. The first patient was a 5-year-old girl who was referred to us with intestinal obstructive symptoms despite an apparently adequate sized ectopic anus. She had colostomy and rectal biopsy, which confirmed HD. She had corrective surgery performed through a posterior sagittal approach. She did well post operatively. The second patient was a 3-year-old girl who presented with features of intestinal obstruction, had laparatomy and was also referred to us. It was observed in the referral hospital during laparatomy, to have features of HD and rectal atresia intraoperatively. She had colostomy done and rectal biopsy performed at the same time, which confirmed the diagnosis of HD. She had simultaneous correction of both conditions through a posterior sagittal approach. She was in good condition at follow up. It was therefore recommended that a high index of suspicion of HD, should be entertained while managing patients with anorectal malformation.

  17. Celiac Disease (United States)

    ... digestive problems called inflammatory bowel disease (IBD) or lactose intolerance . And in some cases, a kid won't ... for Kids With Celiac Disease Inflammatory Bowel Disease Lactose Intolerance Are Your Bowels Moving? Indigestion Nut and Peanut ...

  18. Gaucher's Disease (United States)

    ... of developing the most common variety of Gaucher's disease. Gaucher's disease may increase the risk of: Growth delays ... illness can be difficult, but having a rare disease like Gaucher's may be even harder. Few people know about ...

  19. Pick disease (United States)

    ... Memory loss is often the main, and earliest, symptom of Alzheimer disease.) People with Pick disease tend to behave the wrong way in different social settings. The changes in behavior ... symptoms of the disease. Some persons have more difficulty ...

  20. Alzheimer Disease (United States)

    ... Emergency Room? What Happens in the Operating Room? Alzheimer Disease KidsHealth > For Kids > Alzheimer Disease A A A ... slow it down. When Someone You Love Has Alzheimer Disease You might feel sad or angry — or both — ...

  1. Meniere's Disease (United States)

    ... Meniere's disease can affect your social life, your productivity and the overall quality of your life. Learn ... . Mayo Clinic Footer Legal Conditions and ...

  2. Huntington's Disease (United States)

    Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste ... express emotions. If one of your parents has Huntington's disease, you have a 50 percent chance of ...

  3. Kawasaki Disease (United States)

    Kawasaki disease is a rare childhood disease. It makes the walls of the blood vessels in the body ... veins, and capillaries. No one knows what causes Kawasaki disease. Symptoms include High fever that lasts longer than ...

  4. Crohn's Disease (United States)

    Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory ... small intestine called the ileum. The cause of Crohn's disease is unknown. It may be due to an ...

  5. Crohn disease (United States)

    ... from doing your everyday activities. You have side effects from medicines you are taking for your condition. Alternative Names Crohn's disease; Inflammatory bowel disease - Crohn's disease; Regional enteritis; Ileitis; ...

  6. Ribbing disease

    Directory of Open Access Journals (Sweden)

    Mukkada Philson


    Full Text Available Ribbing disease is a rare sclerosing dysplasia that involves long tubular bones, especially the tibia and femur. It occurs after puberty and is reported to be more common in women. In this article we describe how Ribbing disease can be differentiated from diseases like Engelmann-Camurati disease, van Buchem disease, Erdheim-Chester disease, osteoid osteoma, chronic osteomyelitis, stress fracture, etc.

  7. Bladder Diseases (United States)

    ... frequent, urgent urination Bladder cancer Doctors diagnose bladder diseases using different tests. These include urine tests, x- ... National Institute of Diabetes and Digestive and Kidney Diseases

  8. Heart Diseases (United States)

    ... you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the U.S. ... of disability. There are many different forms of heart disease. The most common cause of heart disease is ...

  9. Glomerular Diseases (United States)

    ... Kidney Disease (CKD) What Is Chronic Kidney Disease? Causes of CKD Tests & Diagnosis Managing CKD Eating Right Preventing CKD ... kidney damage. Endocarditis sometimes produces chronic kidney disease (CKD). HIV, the virus that leads to AIDS, can also cause glomerular disease. Between 5 and 10 percent of ...

  10. Whipple's Disease (United States)

    ... more common conditions with similar symptoms, including inflammatory rheumatic disease—characterized by inflammation and loss of function in ... Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition Blood Diseases Diagnostic Tests La información de la salud en ...

  11. Rh Disease (United States)

    ... Loss > Birth defects & other health conditions > Rh disease Rh disease E-mail to a friend Please fill ... Rh-negative with a blood test. What is Rh factor? Rh factor is a protein that’s found ...

  12. Fifth disease (United States)

    Parvovirus B19; Erythema infectiosum; Slapped cheek rash ... Fifth disease is caused by human parvovirus B19. It often affects preschoolers or school-age children during the spring. The disease spreads through the fluids in the nose and ...

  13. Liver Disease (United States)

    ... stay still. Liver disease has many causes. Infection Parasites and viruses can infect the liver, causing inflammation ... beyond. National Institute of Diabetes and Digestive and Kidney Diseases. ...

  14. Endocrine Diseases (United States)

    ... low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond ... In the United States, the most common endocrine disease is diabetes. There are many others. They are ...

  15. Kidney Diseases (United States)

    ... until you go to the bathroom. Most kidney diseases attack the nephrons. This damage may leave kidneys ... medicines. You have a higher risk of kidney disease if you have diabetes, high blood pressure, or ...

  16. Eye Diseases (United States)

    ... the back of the eye Macular degeneration - a disease that destroys sharp, central vision Diabetic eye problems ... defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and ...

  17. Mitochondrial Diseases (United States)

    ... disorder, something goes wrong with this process. Mitochondrial diseases are a group of metabolic disorders. Mitochondria are ... cells and cause damage. The symptoms of mitochondrial disease can vary. It depends on how many mitochondria ...

  18. Canavan Disease (United States)

    ... Foundation, Inc. Canavan Research Foundation Genetic Alliance National Tay-Sachs and Allied Diseases Association See all related ... Foundation, Inc. Canavan Research Foundation Genetic Alliance National Tay-Sachs and Allied Diseases Association See all related ...

  19. Gaucher Disease (United States)

    ... Inc. National Organization for Rare Disorders (NORD) National Tay-Sachs and Allied Diseases Association See all related ... Inc. National Organization for Rare Disorders (NORD) National Tay-Sachs and Allied Diseases Association See all related ...

  20. Fabry Disease (United States)

    ... Foundation National Organization for Rare Disorders (NORD) National Tay-Sachs and Allied Diseases Association See all related ... Foundation National Organization for Rare Disorders (NORD) National Tay-Sachs and Allied Diseases Association See all related ...

  1. Legionnaires' Disease (United States)

    ... Disease Sources Investigation Protocol Outbreak Response What is Legionella? Exposure and Transmission Disease Symptoms Incidence and Risk ... form of pneumonia. More than 43 species of Legionella have been identified and more than 20 linked ...

  2. Digestive Diseases (United States)

    ... Celiac Disease Bowel Control Problems (Fecal Incontinence) Gas Lactose Intolerance Diarrhea Diverticulosis & Diverticulitis Acid Reflux (GER & GERD) More Digestive Disease Topics Children and Teens Acid Reflux (GER & GERD) in Infants Acid Reflux (GER & GERD) in Children & Teens Chronic ...

  3. Liver disease (United States)

    ... this page: // Liver disease To use the sharing features on this page, please enable JavaScript. The term "liver disease" applies to many conditions that stop the ...

  4. Parasitic Diseases (United States)

    ... water, a bug bite, or sexual contact. Some parasitic diseases are easily treated and some are not. Parasites ... can be seen with the naked eye. Some parasitic diseases occur in the United States. Contaminated water supplies ...

  5. Valve Disease (United States)

    ... heart valves, valve insufficiency, valve regurgitation, valve stenosis, valvular heart disease Every time your heart beats, blood flows into, ... removed from the market after being linked to heart valve disease. An infection in the lining of the heart's ...

  6. Gaucher Disease (United States)

    Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have ... affected. It usually starts in childhood or adolescence. Gaucher disease has no cure. Treatment options for types 1 ...

  7. Heart Disease (United States)

    ... daily aspirin to prevent heart attack? Does taking birth control pills increase my risk for heart disease? Does using ... tells you to. Return to top Does taking birth control pills increase my risk for heart disease? Taking birth ...

  8. Wilson Disease (United States)

    Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You ... extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and ...

  9. Binswanger's Disease (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  10. Batten Disease (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  11. Behcet's Disease (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  12. Krabbe Disease (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  13. Wilson Disease (United States)

    ... in copper, such as –shellfish –liver –mushrooms –nuts –chocolate • A person cannot prevent Wilson disease; however, people with a family history of Wilson disease, especially those with an affected ...

  14. Parkinson's Disease (United States)

    ... Parkinson's disease more than stretching and resistance training. Yoga. In yoga, gentle stretching movements and poses may increase your ... Disease Association. You and your family may also benefit from talking to a mental health professional (psychologist) ...

  15. Parkinson disease (United States)

    ... this page: // Parkinson disease To use the sharing features on this page, please enable JavaScript. Parkinson disease causes certain brain cells to die. These are ...

  16. Addison disease (United States)

    ... amounts of some or all of its hormones ( hypopituitarism ) Autoimmune disorder that affects the nerves and the ... disease) Dermatitis herpetiformis Diabetes Graves disease Hyperthyroidism Hypoparathyroidism Hypopituitarism Immune response Myasthenia gravis Ovarian hypofunction Pernicious anemia ...

  17. Legionnaire disease (United States)

    ... features on this page, please enable JavaScript. Legionnaire disease is an infection of the lungs and airways. It is caused by Legionella bacteria. Causes The bacteria that cause Legionnaire disease have ...

  18. Crohn's Disease (United States)

    ... prognosis of Crohn's disease in adults. Accessed June 2, 2014. Smoking and ... cancer surveillance in inflammatory bowel disease. Accessed June 9, 2014. Inflammatory bowel ...

  19. [Gaucher Disease]. (United States)

    Okuyama, Torayuki


    Gaucher disease is an autosomal recessive disorder caused by congenital deficiency of lysosomal glucocerebrosidase. Gaucher disease is classified into three types. In addition to enzyme replacement therapy, substrate reduction therapy, chemical chaperon therapy, and hematopoietic stem cell transplantation therapy are considered for the effective treatment of Gaucher disease.

  20. Menetrier's Disease (United States)

    ... producing cells in the stomach, which decreases stomach acid. Ménétrier’s disease is also called Ménétrier disease or hypoproteinemic hypertrophic ... Alternate Versions PDF Version (102 KB) Additional Links Peptic Ulcer Disease Upper GI Endoscopy This content is provided as ...

  1. Virological investigation of hand, foot, and mouth disease in a tertiary care center in South India

    Directory of Open Access Journals (Sweden)

    Pavithra M Vijayaraghavan


    Full Text Available Context: Hand, foot, and mouth disease (HFMD remains a common problem in India, yet its etiology is largely unknown as diagnosis is based on clinical characteristics. There are very few laboratory-based molecular studies on HFMD outbreaks. Aim: The aim of this study was to characterize HFMD-related isolates by molecular techniques. Settings and Design: Between 2005 and 2008, during two documented HFMD outbreaks, 30 suspected HFMD cases presented at the Outpatient Unit of the Department of Dermatology, Christian Medical College (CMC, Vellore. Seventy-eight clinical specimens (swabs from throat, mouth, rectum, anus, buttocks, tongue, forearm, sole, and foot were received from these patients at the Department of Clinical Virology, CMC, for routine diagnosis of hand, foot, and mouth disease. Materials and Methods: Samples from these patients were cultured in Vero and rhabdomyosarcoma (RD cell lines. Isolates producing enterovirus-like cytopathogenic effect (CPE in cell culture were identified by a nested reverse transcription-based polymerase chain reaction (RT-PCR and sequenced. The nucleotide sequences were analyzed using the BioEdit sequence program. Homology searches were performed using the Basic Local Alignment Search Tool (BLAST algorithm. Statistical Analysis used: The statistical analysis was performed using Epi Info version 6.04b and Microsoft Excel 2002 (Microsoft Office XP. Results: Of the 30 suspected HFMD cases, only 17 (57% were laboratory confirmed and Coxsackievirus A16 (CVA16 was identified as the etiological agent in all these cases. Conclusions: Coxsackievirus A16 (CVA16 was identified as the virus that caused the HFMD outbreaks in Vellore between 2005 and 2008. Early confirmation of HFMD helps to initiate control measures to interrupt virus transmission. In the laboratory, classical diagnostic methods, culture and serological tests are being replaced by molecular techniques. Routine surveillance systems will help understand the

  2. Celiac disease

    Directory of Open Access Journals (Sweden)

    Holtmeier Wolfgang


    Full Text Available Abstract Celiac disease is a chronic intestinal disease caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. The main symptoms are: stomach pain, gas, and bloating, diarrhea, weight loss, anemia, edema, bone or joint pain. Prevalence for clinically overt celiac disease varies from 1:270 in Finland to 1:5000 in North America. Since celiac disease can be asymptomatic, most subjects are not diagnosed or they can present with atypical symptoms. Furthermore, severe inflammation of the small bowel can be present without any gastrointestinal symptoms. The diagnosis should be made early since celiac disease causes growth retardation in untreated children and atypical symptoms like infertility or neurological symptoms. Diagnosis requires endoscopy with jejunal biopsy. In addition, tissue-transglutaminase antibodies are important to confirm the diagnosis since there are other diseases which can mimic celiac disease. The exact cause of celiac disease is unknown but is thought to be primarily immune mediated (tissue-transglutaminase autoantigen; often the disease is inherited. Management consists in life long withdrawal of dietary gluten, which leads to significant clinical and histological improvement. However, complete normalization of histology can take years.

  3. Celiac disease

    Directory of Open Access Journals (Sweden)

    Radlović Nedeljko


    Full Text Available Celiac disease is a multysystemic autoimmune disease induced by gluten in wheat, barley and rye. It is characterized by polygenic predisposition, high prevalence (1%, widely heterogeneous expression and frequent association with other autoimmune diseases, selective deficit of IgA and Down, Turner and Williams syndrome. The basis of the disease and the key finding in its diagnostics is symptomatic or asymptomatic inflammation of the small intestinal mucosa which resolves by gluten-free diet. Therefore, the basis of the treatment involves elimination diet, so that the disorder, if timely recognized and adequately treated, also characterizes excellent prognosis.

  4. Wilson Disease (United States)

    ... Liver Disease & NASH Definition & Facts Symptoms & Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Biliary Atresia Cirrhosis Hemochromatosis Hepatitis A through E (Viral Hepatitis) Hepatitis ...

  5. Celiac Disease

    Directory of Open Access Journals (Sweden)

    Hero Brokalaki


    Full Text Available Celiac disease is a small intestine disease caused by the immunological response to gluten, a component of wheat, rye and barley. The worldwide prevalence of celiac disease ranges between 0.2% and 2.2 %. The clinical features of celiac disease includes diarrhea, steatorrhea, flatulence, abdominal pain and weight loss. The asymptomatic type of celiac disease is characterized by soft or normally shaped stool, weakness, lassitude and moderate weight loss. In children, celiac disease usually arises between the first and the third year of age, with diarrhea, flatulence and low weight. The malabsorption in small intestine causes many extaintestinal manifestations, such us anemia, bone abnormalities, hemorrhage and neuropathy. Celiac disease is diagnosed by histological examination of tissue samples taken by duodenum due gastroscopy and by the detection of certain antibodies in blood (anti-GL-IgG, anti-GL-IgA, ΕΜΑ-IgA και anti-tTg-IgA. The only therapeutic approach to celiac disease is a gluten-free diet and, if it is necessary, the administration of iron, folic acid, calcium and vitamins (K, B12. The prognosis of celiac disease is excellent, if there is an early diagnosis and the patient keeps for life a gluten free diet.

  6. Vascular Disease Foundation (United States)

    ... Contact Us Vascular Disease What is Vascular Disease? Education and Awareness Vascular Diseases Abdominal Aortic Aneurysm Aortic Dissection Arteriovenous Malformation Atherosclerosis Buerger's Disease Carotid Artery Disease ...

  7. What Is Vascular Disease? (United States)

    ... Contact Us Vascular Disease What is Vascular Disease? Education and Awareness Vascular Diseases Abdominal Aortic Aneurysm Aortic Dissection Arteriovenous Malformation Atherosclerosis Buerger's Disease Carotid Artery Disease ...

  8. Is "Parkinson's disease" one disease?


    Calne, D B


    Consideration is given to how and why categories of ill health are divided into diseases. Aetiology is a fundamental criterion for the delineation of individual diseases. The same clinical and pathological picture may have many different causes; for example meningococcal meningitis and pneumococcal meningitis are distinct diseases that may display the same symptoms and signs. On the other hand, a single aetiology may lead to quite separate clinical and pathological phenomena; for example, neu...

  9. Wilson Disease (United States)

    ... individuals with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic ... individuals with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic ...

  10. Alzheimer's Disease (United States)

    ... to note that Alzheimer's disease is not a normal part of aging. What Is Alzheimer's Disease? Video length: 2 min 29 sec Click to watch this video The course of Alzheimer’s disease—which symptoms appear and how quickly changes occur—varies from person to person. The time ...

  11. Kidney Disease (United States)

    ... version of this page please turn Javascript on. Kidney Disease What is Kidney Disease? What the Kidneys Do Click for more information You have two ... damaged, wastes can build up in the body. Kidney Function and Aging Kidney function may be reduced ...

  12. Batten Disease (United States)

    ... children with Batten disease who were treated with vitamins C and E and with diets low in vitamin A. However, these treatments did not prevent the ... Complications of AIDS Information Page Neurological Complications of Lyme Disease ... Page Neuromyelitis Optica Information Page Neuronal Migration ...

  13. Disease Lab


    Powell, Jim; Lewis, Matt


    Students use transparencies and dry erase markers to simulate the spread of a zombie virus among a fixed population. Students are then challenged to create their own "disease" and develop an ODE model for the resulting data. From this exercise students gain greater understanding of population and SIR models, disease dynamics, parameter estimation and compartment modeling.

  14. Myocardial disease

    Institute of Scientific and Technical Information of China (English)


    970309 Myocardial injury of Keshan disease andapoptosis. ZHONG Xuekuan(钟学宽), et al. KeshanDis Instit, Harbin Med Univ, Harbin, 150086. Chin JEndemiol 1997, 16(2): 81-82. Objective: To discuss the relationship between my-ocardial injury Of Keshan disease and apoptosis. Meth-

  15. Whipple Disease (United States)

    ... more common conditions with similar symptoms, including • inflammatory rheumatic disease— characterized by inflammation and loss of function in ... way to prevent Whipple disease. Eating, Diet, and Nutrition A person with Whipple disease and malabsorption may need • a diet high in ...

  16. Celiac Disease

    Directory of Open Access Journals (Sweden)

    Manoochehr Karjoo


    Full Text Available Celiac disease also known as gluten-sensitive enteropathy is characterized by intestinal mucosal damage and malabsorption from dietary intake of wheat, rye or barley. Symptoms may appear with introduction of cereal in the first 3 years of life. A second peak in symptoms occurs in adults during the third or forth decade and even as late as eight decade of life. The prevalence of this disease is approximately 1 in 250 adults. The disease is more prevalent in Ireland as high as 1 in 120 adults. The disorder occurs in Arab, Hispanics, Israeli Jews, Iranian and European but is rare in Chinese and African American. To have celiac disease the patient should have the celiac disease genetic markers as HLA DQ 2 and HLA DQ 8. Patient with celiac disease may have 95 per cent for DQ 2 and the rest is by DQ 8. Someone may have the genetic marker and never develops the disease. In general 50 percent with markers may develop celiac disease. To develop the disease the gene needs to become activated. This may happen with a viral or bacterial infection, a surgery, delivery, accident, or psychological stress. After activation of gene cause the tight junction to opens with the release of Zonulin This results in passage of gluten through the tight junction and formation of multiple antibodies and autoimmune disease. This also allows entrance of other proteins and development of multiple food allergies. As a result is shortening, flattening of intestinal villi resulting in food, vitamins and minerals malabsorption.

  17. Pompe's disease. (United States)

    van der Ploeg, Ans T; Reuser, Arnold J J


    Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal glycogen storage. Pompe's disease is also regarded as a muscular disorder, but the generalised storage of glycogen causes more than mobility and respiratory problems. The clinical spectrum is continuous and broad. First symptoms can present in infants, children, and adults. Cardiac hypertrophy is a key feature of classic infantile Pompe's disease. For a long time, there was no means to stop disease progression, but the approval of enzyme replacement therapy has substantially changed the prospects for patients. With this new development, the disease is now among the small but increasing number of lysosomal storage disorders, for which treatment has become a reality. This review is meant to raise general awareness, to present and discuss the latest insights in disease pathophysiology, and to draw attention to new developments about diagnosis and care. We also discuss the developments that led to the approval of enzyme replacement therapy with recombinant human alpha-glucosidase from Chinese hamster ovary cells (alglucosidase alfa) by the US Food and Drug Administration and European Medicines Agency in 2006, and review clinical practice.

  18. Refractory disease in autoimmune diseases

    NARCIS (Netherlands)

    Vasconcelos, Carlos; Kallenberg, Cees; Shoenfeld, Yehuda


    Refractory disease (RD) definition has different meanings but it is dynamic, according to knowledge and the availability of new drugs. It should be differentiated from severe disease and damage definitions and it must take into account duration of adequate therapy and compliance of the patient. It c

  19. Fahr's Disease

    Directory of Open Access Journals (Sweden)

    Tezcan Caliskan


    Full Text Available Fahr's disease refers to sporadic or familial idiopathic basal ganglia, cerebral and cerebellar calcification. Patients may remain symptom-free but approximately two-thirds of the patients are symptomatic. Typical presentation starts in the 4th to 5th decades of life. Patients present with pyramidal, extrapyramidal, cerebellar, psychiatric and cognitive manifestations. Various diagnostic studies can be used to detect Fahr's disease and associated abnormalities. There is no specific treatment other than symptomatic support. In this review, clinical features and different types of presentations of Fahr's disease are discussed under the light of current literature. [J Contemp Med 2013; 3(2.000: 133-135

  20. Crohn's disease.

    LENUS (Irish Health Repository)

    Shanahan, Fergus


    Crohn\\'s disease is a disorder mediated by T lymphocytes which arises in genetically susceptible individuals as a result of a breakdown in the regulatory constraints on mucosal immune responses to enteric bacteria. Regulation of immune reactivity to enteric antigens has improved understanding of the pathophysiological mechanisms of Crohn\\'s disease, and has expanded therapeutic options for patients with this disorder. Disease heterogeneity is probable, with various underlying defects associated with a similar pathophysiological outcome. Although most conventional drug treatments are directed at modification of host response, therapeutic manipulation of the enteric flora is becoming a realistic option.

  1. Kummell disease. (United States)

    Nickell, Larry T; Schucany, William G; Opatowsky, Michael J


    Kummell disease, or avascular necrosis of a vertebral body, presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury. This rare disease is increasing in prevalence secondary to an aging population and the associated rise in osteoporosis. Treatment with vertebroplasty or surgical decompression and fusion is often required. We present a classic case of Kummell disease to illustrate the salient features of the condition, with associated imaging findings on computed tomography and magnetic resonance imaging.

  2. Behcet's disease. (United States)

    Nair, Jagdish R; Moots, Robert J


    Behçet's disease (BD) is a chronic relapsing and remitting vasculitis of unknown aetiology. It has the capacity to affect almost all organ systems because of its potential to involve both arteries and veins of all sizes, resulting in significant organ-threatening morbidity and mortality. Traditionally known as the 'silk road' disease, it has a worldwide occurrence. The aetiopathological mechanisms of disease development in BD remain poorly understood, but genome wide studies show human leukocyte antigen and non-human leukocyte antigen associations. Environmental influences and genetic factors may have a role in the aetiopathogenetic mechanisms that lead to development of the disease, indicating the autoimmune and auto-inflammatory nature of BD. The evidence base for treatment is limited but new knowledge is emerging and current treatment options range from symptomatic treatment, through to non-biological and biological immunosuppressive drugs, to cover the spectrum of clinical manifestations.

  3. Heart Disease (United States)

    ... Atherosclerosis is also the most common cause of cardiovascular disease. It can be caused by correctable problems, such as an unhealthy diet, lack of exercise, being overweight and smoking. Causes of heart arrhythmia ...

  4. Gum Disease (United States)

    ... away from the teeth. This is known as periodontitis (pronounced: pair-ee-oh-don-TY-tus), a more advanced form of gum disease. With periodontitis, gums become weakened and form pockets around the ...

  5. Huntington disease (United States)

    ... that may show signs of Huntington disease include: Psychological testing Head CT or MRI scan PET (isotope) scan ... the principles of the Health on the Net Foundation ( The information provided herein should ...

  6. Liver Diseases (United States)

    Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases. Viruses cause some of them, like hepatitis ...

  7. Lyme Disease (United States)

    ... can also spread to the nervous system, causing facial paralysis ( Bell_s_palsy ), or meningitis. The last stage of ... symptoms, joint pain or a swollen joint, or facial paralysis. Can I Prevent Lyme Disease? There's no surefire ...

  8. Planning Diseases. (United States)

    Gabel, Medard


    To solve societal problems, both local and global, a global approach is needed. Serious diseases that are crippling present-day problem solving and planning are discussed, and the characteristics of a healthy, effective planning approach are described. (RM)

  9. Legionnaires' Disease (United States)

    Legionnaires' disease is a type of pneumonia caused by bacteria. You usually get it by breathing in mist from water that contains the bacteria. The mist may come from hot tubs, showers, or air-conditioning units for ...

  10. Infectious Diseases (United States)

    ... people worldwide than any other single cause. Infectious diseases are caused by germs. Germs are tiny living things that are found everywhere - in air, soil and water. You can get infected by touching, eating, drinking ...

  11. [Prion diseases]. (United States)

    Zarranz, J J


    Prion diseases are one of the paradigms of modern neurological nosology founded on molecular grounds. Their incidence is low, however the public health challenges derived from their transmissibility, especially due to the appearance of a variant of Creutzfeldt-Jakob disease (vCJD) confers them a preferential place among health care authority concerns. The evolution of data from the European surveillance systems suggests a generalized underdiagnosis of prion diseases and casts doubts about their ability to detect a possible second wave of atypical vCJD, especially if their clinical-pathological characteristics change. Recent data also challenge the feasibility of a subclassification of prion diseases according to their genetic-molecular features

  12. Stargardt Disease (United States)

    ... Resources Low Vision Specialists Retinal Physicians My Retina Tracker Registry Genetic Testing Clinical Trials Join the Fight ... of lipofuscin, a fatty byproduct of normal cell activity. In Stargardt disease, lipofuscin accumulates abnormally. The Foundation ...

  13. Krabbe Disease (United States)

    ... regarding the expected course of the disease. Newborn screening In some states, a screening test for Krabbe ... to deliver fluids and nutrients directly into the stomach (gastric tube) Interventions for older children or adults ...

  14. Vaginal Diseases (United States)

    Vaginal problems are some of the most common reasons women go to the doctor. They may have ... that affect the vagina include sexually transmitted diseases, vaginal cancer, and vulvar cancer. Treatment of vaginal problems ...

  15. [Lyme disease]. (United States)

    Portillo, Aránzazu; Santibáñez, Sonia; Oteo, José A


    Lyme disease (LD) is a worldwide-distributed multisystemic process caused by Borrelia burgdorferi sensu lato (s.l.) and transmitted by hard ticks. In fact, it is the most common tick-borne infectious disease in the northern hemisphere. In Spain it is transmitted by Ixodes ricinus ticks and Borrelia garinii is the genoespecies of B. burgdorferi s.l. mostly involved in our area. LD is known as "the last great imitator" due to the broad clinical spectrum that may cause. Except in the case of erythema migrans (pathognomonic feature of the disease), the remaining clinical manifestations should be confirmed using microbiological tests. This review is intended to provide readers a current vision of the etiology, epidemiology, clinical manifestations, laboratory diagnosis and treatment of Lyme disease in our environment. Controversial aspects arising from the use of non-validated microbiological tests that are being used without scientific rigor are highlighted.

  16. [Kawasaki's disease]. (United States)

    Cortes, J; Martínez, B; Montini, C; Barraza, P; Reyes, A


    We described a case of Kawasaki's disease in a chilean girl, one year and 5 months old of age, who presented the oral characteristics, cutaneous and systemic manifestation of the condition, that is not very common for the dentist but that it is necessary to know due to the heart complications and the mortality associated with the disease, and it is necessary that the dentist recognize early this condition.

  17. Bowel disease

    Institute of Scientific and Technical Information of China (English)


    2008069 The application of Montreal classification in inflammatory bowel disease. YANG Chuanhua(杨川华), et al. Renji Hosp, Shanghai Instit, Shanghai Jiaotong Univ Med Coll, Shanghai 200001. Chin J Intern Med 2008;47(1):7-10. Objective To investigate the clinical features of Crohn′s disease (CD) and ulcerative colitis (UC) according to the Montreal classification. Methods The clinical data of 110 cases of CD or UC were reviewed. The age at

  18. Huntington's disease


    Bates, G P; Dorsey, R.; Gusella, J F; Hayden, M. R.; Kay, C; Leavitt, B. R.; Nance, M; Ross, C A; Scahill, R. I.; Wetzel, R.; Wild, E. J.; Tabrizi, S.J.


    Huntington’s disease is devastating to patients and their families — with autosomal dominant inheritance, onset typically in the prime of adult life, progressive course and combination of motor, cognitive and behavioural features. The disease is caused by an expanded CAG trinucleotide repeat (of variable length) in HTT, the gene which encodes the protein huntingtin. In mutation carriers, huntingtin is produced with abnormally long polyglutamine sequences that confers toxic gains of function a...

  19. Extrapyramidal disease

    Institute of Scientific and Technical Information of China (English)


    2008119 Therapeutic effect of neuropeptide PACAP27 on Parkinson′s disease in mice. WANG Gang(王刚), et al.Dept Neurol & Neurol Instit, Ruijin Hosp, Shanghai Jiaotong Univ, Med Sch, Shanghai 200025. Chin J Neurol 2007;40(12):837-841. Objective To investigate the effects of different doses of pituitary adenylate cyclase-activating polypeptide (PACAP) on the functional and morphological outcome in a mice model of Parkinson′s disease (PD) re

  20. Muscular disease

    Institute of Scientific and Technical Information of China (English)


    930186 The diagnostic value of MRI on neuro-muscular disease.CHEN Qingtang(陈清棠),etal.Dept Neurol,1st Hosp,Beijing Med Univ,100034.Chin J Neurol & Psychiat 1992;25(5):267-269.The article concentrated on the study ofskeletal muscles of four extremities in 12 casesof different kinds of neuromuscular diseases and4 volunteers with MRI.The results revealed:MRI could clearly display individual muscle,muscle groups or abnormal muscles morphologi-

  1. Extrapyramidal disease

    Institute of Scientific and Technical Information of China (English)


    2008486 Neuropsychiatric problems in patients with Parkinson’s disease. ZHOU Mingzhu(周明珠), et al. Dept Neurol, Xinhua Hosp Shanghai Jiaotong Univ, Sch Med, Shanghai 200092.Natl Med J China 2008;88(21):1442-1445. Objective To survey the prevalence and distribution of neuropsychiatric problems in patients with Parkinson’s disease (PD), and to investigate their effects on life quality and the interactions among different neuropsychiatric problems.

  2. [Ledderhose's disease]. (United States)

    Bardelli, M; D'Arienzo, M; Veneziani, C


    The authors describe the clinical appearance of Ledderhose disease and emphasize the association with Dupuytren disease. They report on a series of patients treated at the 2nd Orthopedic Unit of University of Florence and describe the operating technique used. They believe that the procedure of removal of nodules must always be performed in association with careful exeresis of normal tissue, employing total aponeurectomy only in revision surgery.


    Directory of Open Access Journals (Sweden)

    Shaik Sulaiman


    Full Text Available Hirayama’s disease, also known as Monomelic Amyotrophy (MMA, juvenile non-progressive amyotrophy, Sobue disease. It is rare and benign condition. It is a focal, lower motor neuron type of disorder, which occurs mainly in young males. Age of onset, it is first seen most commonly in people in their second and third decades. Geographically, it is seen most commonly in Asian countries like India and Japan. Cause of this disease is unknown in most cases. MRI of cervical spine in flexion is the investigation of choice, which will reveal the cardinal features of Hirayama disease. CASE REPORT 20 years old male came with the complaints of tremors of both hands more of right hand and weakness and wasting of right hand, which is slowly progressive for past 6 months. Lower limbs had no abnormality with normal deep tendon reflexes. On examination, there was wasting and weakness of hypothenar and interosseous muscles of right hand. MRI showed thinning of cord from C5 to C7 level. Proximal epidural fat and tiny flow voids with anterior migration of the posterior dural layer at C5-7 level on flexion MRI. Based on these features a diagnosis of focal amyotrophy was made. A cervical collar was prescribed and patient is under regular follow-up. CONCLUSION Hirayama disease is a rare self-limiting disease. Early diagnosis is necessary as the use of a simple cervical collar which will prevent neck flexion, has been shown to stop the progression.

  4. Occurrence of dolichocolon without megacolon in chronic Chagas disease patients

    Directory of Open Access Journals (Sweden)

    Cleudson Castro


    Full Text Available INTRODUCTION: Since 1970, lengthening of the rectosigmoid has been suspected to be a solitary manifestation of Chagas colopathy. METHODS: To test this hypothesis, opaque enema was administered on 210 seropositive and 63 seronegative patients, and radiographs in the anteroposterior and posteroanterior positions were examined blind to the serological and clinical findings. The distal colon was measured using a flexible ruler along the central axis of the image from the anus to the iliac crest. RESULTS: Dolichocolon was diagnosed in 31 (14.8% seropositive and 3 (4.8% seronegative patients. The mean length was 57.2 (±12.2cm in seropositive patients and 52.1 (±8.8cm in the seronegative patients (p = 0.000, that is, the distal colon in Chagas patients was, on average, 5.1cm longer. Seropositive female patients presented a mean length of 58.8 (±12.3cm, and seronegative female patients presented 53.2 (±9.1cm (p = 0.002. Seropositive male patients had a mean length of 55 (±11.6cm, and seronegative male patients had 49.9 (±7.8cm (p = 0.02. Among 191 patients without megacolon and suspected megacolon, the mean length was 56.3 (±11.6cm in seropositive individuals and 52 (±8.8cm in seronegative patients (p = 0.003. Among individuals with distal colon >70cm, there were 31 Chagas patients with mean length of 77.9 (±7.1cm and three seronegative with 71.3 (±1.1cm (p = 0.000. Among 179 with distal colon <70cm, seropositive individuals had a mean length of 53.6 (±8.8cm, and seronegative patients had 51.2 (±7.8cm (p = 0.059. Serological positive women had longer distal colon than men (p = 0.02, whereas the mean length were the same among seronegative individuals (p = 0.16. CONCLUSIONS: In endemic areas of Brazil Central, solitary dolichocolon is a radiological Chagas disease signal.

  5. Niemann-Pick Disease (United States)

    ... Disease] National Niemann-Pick Disease Foundation, Inc. National Tay-Sachs and Allied Diseases Association See all related ... Disease] National Niemann-Pick Disease Foundation, Inc. National Tay-Sachs and Allied Diseases Association See all related ...

  6. HIV and Rheumatic Disease (United States)

    ... A Patient / Caregiver Diseases & Conditions HIV & Rheumatic Diseases HIV and Rheumatic Disease Fast Facts Rheumatic diseases related ... knows he or she has HIV. What are HIV-associated rheumatic diseases? Some diseases of the joints ...

  7. Learning about Crohn's Disease (United States)

    ... genetic terms used on this page. Learning About Crohn's Disease What is Crohn's disease? What are the symptoms ... disease Additional Resources for Crohn's Disease What is Crohn's disease? Crohn's disease, an idiopathic (of unknown cause), chronic ...

  8. Behcet's disease. (United States)

    Suzuki Kurokawa, M; Suzuki, N


    Behcet's disease (BD) is a systemic disorder of recurrent acute inflammation, characterized by major symptoms of oral aphthous ulcers, uveitis, skin lesions and genital ulcers. Involvement of intestines, vessels, and central nervous system (CNS) sometimes leads to a poor prognosis. Patients with BD are known to distribute along the ancient Silk Road. The incidence is relatively higher from eastern Asia to the Mediterranean area as roughly 1-10 patients in 10,000 people, whereas only 1-2 patients in 1,000,000 people in UK and North America. Although etiology of the disease is still unknown, high prevalence of HLA-B51, increased expression of heat shock protein 60 and Th1 dominant immune responses in the patients are considered important in its pathogenesis. Non-infectious neutrophil activation and infection with Streptococcus sanguis and herpes simplex virus would also be associated. Because BD lacks any pathognomonic symptoms and laboratory findings, the diagnosis relies largely upon the criteria proposed by the International Study Group for Behcet's disease in 1990. In Japan, the diagnosis was also made according to the Japanese criteria revised in 1987. Recently, the Behcet's Disease Research Committee of Japan again revised the Japanese criteria in 2003 to avoid overdiagnosis. The new Japanese criteria are introduced in this review. Differential diagnosis excluding Sweet's disease, pemphigus, erythema nodosum and Crohn's disease is important, and positive laboratory data for pathergy test, prick test for dead Streptococci and HLA-B51 are emphasized to make appropriate diagnosis in these criteria. Pathological findings of the disease-affected site such as erythematous nodosum is also stressed. Treatment for the disease has been chosen according to the clinical symptoms. Non-steroidal anti-inflammatory drugs, immunosuppressants, corticosteroids and colchicine are basically introduced. Recently, effects of interferon-alpha/beta, anti-tumor necrosis factor antibody

  9. Association between sexually transmitted disease and church membership. A retrospective cohort study of two Danish religious minorities (United States)

    Kørup, Alex Kappel; Thygesen, Lau Caspar; Christensen, René dePont; Johansen, Christoffer; Søndergaard, Jens; Hvidt, Niels Christian


    Objectives Studies comprising Danish Seventh-day Adventists (SDAs) and Danish Baptists found that members have a lower risk of chronic diseases including cancer. Explanations have pointed to differences in lifestyle, but detailed aetiology has only been sparsely examined. Our objective was to investigate the incidence of sexually transmitted diseases (STDs) among Danish SDAs and Baptists as a proxy for cancers related to sexual behaviour. Methods We followed the Danish Cohort of Religious Societies from 1977 to 2009, and linked it with national registers of all inpatient and outpatient care contacts using the National Patient Register. We compared the incidence of syphilis, gonorrhoea and chlamydia among members of the cohort with the general population. Results The cohort comprised 3119 SDA females, 1856 SDA males, 2056 Baptist females and 1467 Baptist males. For the entire cohort, we expected a total of 32.4 events of STD, and observed only 9. Female SDAs and Baptists aged 20–39 years had significant lower incidence of chlamydia (both p<0.001). Male SDAs and Baptists aged 20–39 years also had significant lower incidence of chlamydia (p<0.01 and p<0.05, respectively). No SDA members were diagnosed with gonorrhoea, when 3.4 events were expected, which, according to Hanley's ‘rule of three’, is a significant difference. No SDA or Baptist was diagnosed with syphilis. Conclusions The cohort shows significant lower incidence of STD, most likely including human papillomavirus, which may partly explain the lower incidence of cancers of the cervix, rectum, anus, head and neck. PMID:27016243

  10. Myocardial disease

    Institute of Scientific and Technical Information of China (English)


    930497 Ectopic expression and the significanceof HLA—class II antigens in the myocardium ofpatients with dilated cardiomyopathy.LI Yunyou(李运友),et al.lst Affili Hosp,Nanjing MedCoil,Nanjing,210029.Chin J Cardiol 1993;21(1):15—16.Expression of HLA—class II antigens(DQ,DP)in the myocardium of patients with differentheart diseases and normal controls was studiedwith indirect immunofluorescence(IIF).Thepositive rates in different groups were observedas follows:dilated cardiomyopathy(DCM,12/13,+++),rheumatic heart disease(2/4,++),congenital heart diseases(1/14,+),left a-trial myxoma(0/1)and normal controls(1/8,

  11. Celiac disease

    DEFF Research Database (Denmark)

    Hvas, Christian Lodberg; Jensen, Michael Dam; Reimer, Maria Christina;


    , which are found in wheat, rye, and barley. The disease prevalence is 0.5-1.0%, but CD remains under-diagnosed. The diagnosis relies on the demonstration of lymphocyte infiltration, crypt hyperplasia, and villous atrophy in duodenal biopsies. Serology, malabsorption, biochemical markers......This national clinical guideline approved by the Danish Society for Gastroenterology and Hepatology describes the diagnosis and treatment of celiac disease (CD) in adults. CD is a chronic immunemediated enteropathy of the small intestine triggered by the ingestion of gluten-containing proteins...... the small intestinal mucosa and absorption. Adherence to a GFD usually requires dietary advice from a clinical dietician. The monitoring of antibody levels and malabsorption markers is crucial during follow-up and allows for early treatment of disease complications. Important complications include...

  12. [Human papillomaviruses in the pathogenesis of intraepithelial neoplasia (AIN) and carcinoma of the anus]. (United States)

    von Knebel Doeberitz, M; Reuschenbach, M


    HPV infections have been implicated in the pathogenesis of anal cancers. The mode of infection and subsequent transformation resembles very much the pathogenesis of cervical and other HPV-associated cancers. The molecular dissection of individual steps required to achieve cellular transformation within an HPV-infected cell led to the identification of novel biomarkers that make it possible to identify HPV-transformed cells with substantially higher precision in comparison to conventional methods. Since effective antiretroviral therapy allows for possible long-term survival of HIV-infected individuals who are at very high risk to develop HPV-associated cancers in the anogenital tract, these new developments have become increasingly relevant for practicing dermatologists and proctologists. We here briefly review the basic concepts and some clinical applications of this recent research.

  13. Celiac disease

    DEFF Research Database (Denmark)

    Hvas, Christian Lodberg; Jensen, Michael Dam; Reimer, Maria Christina;


    the small intestinal mucosa and absorption. Adherence to a GFD usually requires dietary advice from a clinical dietician. The monitoring of antibody levels and malabsorption markers is crucial during follow-up and allows for early treatment of disease complications. Important complications include......This national clinical guideline approved by the Danish Society for Gastroenterology and Hepatology describes the diagnosis and treatment of celiac disease (CD) in adults. CD is a chronic immunemediated enteropathy of the small intestine triggered by the ingestion of gluten-containing proteins...

  14. Dent's disease

    Directory of Open Access Journals (Sweden)

    Thakker Rajesh V


    Full Text Available Abstract Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. These features are generally found in males only, and may be present in early childhood, whereas female carriers may show a milder phenotype. Prevalence is unknown; the disorder has been reported in around 250 families to date. Complications such as rickets or osteomalacia may occur. The disease is caused by mutations in either the CLCN5 (Dent disease 1 or OCRL1 (Dent disease 2 genes that are located on chromosome Xp11.22 and Xq25, respectively. CLCN5 encodes the electrogenic Cl-/H+ exchanger ClC-5, which belongs to the CLC family of Cl- channels/transporters. OCRL1 encodes a phosphatidylinositol bisphosphate (PIP2 5-phosphatase and mutations are also associated with Lowe Syndrome. The phenotype of Dent's disease is explained by the predominant expression of ClC-5 in the proximal tubule segments of the kidney. No genotype-phenotype correlation has been described thus far, and there is considerable intra-familial variability in disease severity. A few patients with Dent's disease do not harbour mutations in CLCN5 and OCRL1, pointing to the involvement of other genes. Diagnosis is based on the presence of all three of the following criteria: low-molecular-weight proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, kidney stones, hematuria, hypophosphatemia or renal insufficiency. Molecular genetic testing confirms the diagnosis. The differential diagnosis includes other causes of generalized dysfunction of the proximal tubules (renal Fanconi syndrome, hereditary, acquired, or caused by exogenous substances. Antenatal diagnosis and pre-implantation genetic testing is not advised. The care of patients with Dent's disease is supportive, focusing on the treatment of hypercalciuria and

  15. Prionic diseases

    Directory of Open Access Journals (Sweden)

    Abelardo Q-C Araujo


    Full Text Available Prion diseases are neurodegenerative illnesses due to the accumulation of small infectious pathogens containing protein but apparently lacking nucleic acid, which have long incubation periods and progress inexorably once clinical symptoms appear. Prions are uniquely resistant to a number of normal decontaminating procedures. The prionopathies [Kuru, Creutzfeldt-Jakob disease (CJD and its variants, Gerstmann-Sträussler-Scheinker (GSS syndrome and fatal familial insomnia (FFI] result from accumulation of abnormal isoforms of the prion protein in the brains of normal animals on both neuronal and non-neuronal cells. The accumulation of this protein or fragments of it in neurons leads to apoptosis and cell death. There is a strong link between mutations in the gene encoding the normal prion protein in humans (PRNP - located on the short arm of chromosome 20 – and forms of prion disease with a familial predisposition (familial CJD, GSS, FFI. Clinically a prionopathy should be suspected in any case of a fast progressing dementia with ataxia, myoclonus, or in individuals with pathological insomnia associated with dysautonomia. Magnetic resonance imaging, identification of the 14-3-3 protein in the cerebrospinal fluid, tonsil biopsy and genetic studies have been used for in vivo diagnosis circumventing the need of brain biopsy. Histopathology, however, remains the only conclusive method to reach a confident diagnosis. Unfortunately, despite numerous treatment efforts, prionopathies remain short-lasting and fatal diseases.

  16. Refsum Disease (United States)

    ... acid, a type of fat found in certain foods. As a result, toxic levels of phytanic acid build up in the brain, blood, and other tissues. The disease usually begins in late childhood or early adulthood with increasing night blindness due ...


    Institute of Scientific and Technical Information of China (English)


    3.1 Viral disease2003162 The clinical and epidemiological analysis on 46 patients with epidemic hemorrhagic fever in Huainan areas. WANG Kexia(王克霞). Sch Med, An-hui Univ Sci & Tehnol, Huainan 232001. Chin J En-demiol 2003;22(1):48-50.

  18. Huntington's Disease (United States)

    ... seizures. More than 30,000 Americans have HD. Huntington’s disease is caused by a mutation in the gene for a protein called huntingtin. The defect causes the cytosine, adenine, and guanine (CAG) building blocks of DNA to repeat many more ...

  19. Extraphyramidal disease

    Institute of Scientific and Technical Information of China (English)


    2009250 Effects of bilateral deep brain stimulation of the subthalamic nucleus on depression in patients with parkinson’s disease. WANG Xuelian(王学廉),et al.Dept Neurosurg,Tangdu Hosp,4th Milit Med Univ,Xi’an,710038.Chin J Nerv Ment Dis,2009;35(2):88-92.


    Institute of Scientific and Technical Information of China (English)


    2.1 Viral disease2003263 Isolation, identification and sequence analyses of dengue virus type 2 strain GD19/2001. REN Rui-wen(任瑞文), et al. Milit Med Instit Guangzhou Milit District, Guangzhou 510507. Chin J Epidemiol 2003; 24 (4):288-290. Objective:To identify the virus isolated from patients


    Institute of Scientific and Technical Information of China (English)


    3.1 Viral disease2004310 One-step simultaneous detection of G-genotype of human group a rotaviruses by multiplex RT-PCR. TANG Shaowen (唐少文) , et al. Dept Epidemiol, Tongji Med Coll Huozhong Univ Sci & Technol, Wuhan 430030. Chin J Lab Med 2004; 27 (4):234-236

  2. Celiac disease

    DEFF Research Database (Denmark)

    Hvas, Christian Lodberg; Jensen, Michael Dam; Reimer, Maria Christina


    This national clinical guideline approved by the Danish Society for Gastroenterology and Hepatology describes the diagnosis and treatment of celiac disease (CD) in adults. CD is a chronic immunemediated enteropathy of the small intestine triggered by the ingestion of gluten-containing proteins...... osteoporosis, iron and vitamin deficiencies, and enteropathy-associated T-cell lymphoma....

  3. Meningococcal disease

    Directory of Open Access Journals (Sweden)

    Alex Koyfman


    Full Text Available The first cases of meningococcal meningitis were described in Geneva in 1805 and in New England in 1806, the causative agent finally being identified by Anton Weichselbaum in 1887. The first meningococcal epidemics occurred in sub-Saharan Africa in the early 1900s and periodic outbreaks continue to occur worldwide today. Neisseria meningitidis colonizes the naso-oropharyngeal mucosa in approximately 10–20% of healthy individuals. When it invades the bloodstream, meningococcus has the potential to cause devastating disease. It can affect people of any age, but primarily infects children and adolescents. Meningococcemia classically follows an upper respiratory illness consisting of myalgias, fever, headache, and nausea. It can present as an indolent infection with rapid recovery or progress within a few hours into a fulminant illness affecting multiple organ systems. As such, meningococcemia is one of the important causes of sepsis. Prior to antibiotic therapy, the disease carried a 70% mortality rate. Despite advances in early diagnosis and treatment, 10–15% of affected patients die from the disease and another 10–20% are left with severe morbidities (neurologic disability, hearing loss, loss of a limb. Meningococcal disease remains a significant global health threat.


    Institute of Scientific and Technical Information of China (English)


    4. 1 Viral disease2004174 Study on the seropositive prevalence of humanimmunodeficiency virus in a village residents living in rural region of central China. CHENG Hua (程华), et al. Public Health Sch, Fudan Univ, Shanghai 200032. Chin J Epidemiol 2004;25(4):317 -321.

  5. Parkinson's disease

    DEFF Research Database (Denmark)

    Astradsson, Arnar; Aziz, Tipu Z


    -derived therapy in people with Parkinson's disease? We searched: Medline, Embase, The Cochrane Library and other important databases up to September 2014 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from...

  6. Myocardial disease

    Institute of Scientific and Technical Information of China (English)


    920666 Immunocytochemical study ofCuZn superoxide dismutase in the myocardi-um of normal subjects and patients ofrheumatic heart disease.ZHENG Yi(郑毅),et al. Dept Intern Med, Navy General Hosp,PLA, Beijing. 100037. Natl Med J China 1992;72(4): 225-227. By using the methods of immunocytochemistry

  7. Behcet's Disease (United States)

    ... to stop taking the medicine suddenly, because the medicine alters the body’s production of the natural corticosteroid hormones. Long-term use of these medications can have side effects such as osteoporosis (a disease that leads to bone fragility), weight gain, delayed ...

  8. Huntington's disease

    DEFF Research Database (Denmark)

    Hjermind, Lena Elisabeth; Law, Ian; Jønch, Aia


    In this open-label pilot study, the authors evaluated the effect of memantine on the distribution of brain glucose metabolism in four Huntington's disease (HD) patients as determined by serial 18-fluoro-deoxyglucose [F(18)]FDG-PET scans over a period of 3-4 months (90-129 days, with one patient...

  9. Infectious Disease

    Institute of Scientific and Technical Information of China (English)


    3.1 Viral disease2007149 Study on platelet β3 integrin expression levels and their relationships with disease severity in patients with hemorrhagic fever with renal syndrome.GAO Maicang(高麦仓), et al. Dept Infect Dis, 1st Affili Hosp, Sch Med, Xi′an Jiaotong Univ , Xi′an 710061. Chin J Infect Dis 2007;25(3):152-153. Objective To investigate the relationship between the expression level of platelet membrane glycoprotein 133(GP Ⅲa, CD61) and the severity of disease in patients with hemorrhagic fever with renal syndrome(HFRS). Methods One hundred and four patients with HFRS and 30 healthy individuals were recruited. The percentage of CD61 positive platelets and the mean fluorescence intensities (MFI) of platelet membrane glycoprotein β3 were determined by flow cytometry (FCM). The 104 patients studied were divided into three groups based on their expression levels of platelet membrane glycoprotein β3 at oliguric phase. Clinical data and laboratory parameters in different groups were compared and analyzed. Results The expression levels of CD61 in patients with HFRS were significantly higher than those in control group, although no significant difference in the percentage of CD61 positive platelets between patients with HFRS and controls was detected. The MFI of CD61 expression in patients with HFRS at fever phase, oliguric phase and polyuric phase was 19. 75±2.57, 17.46±1.48 and 15. 55±0.60, respectively, which was significantly higher than that in control group (3. 20±0.12). The expression level of CD61 in patients with HFRS at oliguric phase was negatively correlated with platelet count and serum albumin(r=-0.637 and -0. 695. respectively) and positively correlated with white blood cell count, blood urea nitrogen, serum creatinine and alanine aminotransferase(r= 0.945, 0. 904, 0.956 and 0. 891, respectively). When the patients were compared according to the expression levels of CD61, it was indicated that the higher the expression level of CD61, the

  10. Celiac disease

    Institute of Scientific and Technical Information of China (English)

    Luis Rodrigo


    Celiac disease (CD) is a common autoimmune disorder,induced by the intake of gluten proteins present in wheat, barley and rye. Contrary to common belief,this disorder is a protean systemic disease, rather than merely a pure digestive alteration. CD is closely associated with genes that code HLA-Ⅱ antigens, mainly of DQ2 and DQ8 classes. Previously, it was considered to be a rare childhood disorder, but is actually considered a frequent condition, present at any age, which may have multiple complications. Tissue transglutaminase-2(tTG), appears to be an important component of this disease, both, in its pathogenesis and diagnosis. Active CD is characterized by intestinal and/or extra-intestinal symptoms, villous atrophy and crypt hyperplasia, and strongly positive tTG auto-antibodies. The duodenal biopsy is considered to be the "gold standard" for diagnosis, but its practice has significant limitations in its interpretation, especially in adults. Occasionally, it results in a false-negative because of patchy mucosal changes and the presence of mucosal villous atrophy is often more severe in the proximal jejunum, usually not reached by endoscopic biopsies. CD is associated with increased rates of several diseases, such as iron deficiency anemia, osteoporosis, dermatitis herpetiformis,several neurologic and endocrine diseases, persistent chronic hypertransami-nasemia of unknown origin,various types of cancer and other autoimmune disorders.Treatment of CD dictates a strict, life-long gluten-free diet, which results in remission for most individuals,although its effect on some associated extraintestinal manifestations remains to be established.

  11. Menkes disease. (United States)

    Tümer, Zeynep; Møller, Lisbeth B


    Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy dependent transmembrane protein, which is involved in the delivery of copper to the secreted copper enzymes and in the export of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms.

  12. Bacterial disease

    Institute of Scientific and Technical Information of China (English)


    930445 A report on investigation of an outbreakof legionnaires’disease in a hotel in Beijing.DENG Changying(邓长英),et al.Beijing ArmedForce General Hosp,Beijing,100027.Chin J Epi-demiol 1993;14(2):78—79.During the period from February to March,1992,an outbreak of upper respiratory infection(influenza—like syndrome)took place in a hotelin Beijing.An epidemiological investigation andbacteriological examination were carried out inthis hotel.The results showed that it was anoutbreak of Legionnaires’disease caused by Le-gionella pneumophila serogroup 10(Lpl0).Theincidence was 13.51%(5/37).This is the firstreport on Lp10 infection in China.

  13. Parkinson's disease

    DEFF Research Database (Denmark)

    Astradsson, Arnar; Aziz, Tipu Z


    INTRODUCTION: The mean age of onset of Parkinson's disease is about 65 years, with a median time of 9 years between diagnosis and death. METHODS AND OUTCOMES: We conducted a systematic review and aimed to answer the following clinical question: What are the effects of fetal cell or stem cell......-derived therapy in people with Parkinson's disease? We searched: Medline, Embase, The Cochrane Library and other important databases up to September 2014 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from...... relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). RESULTS: We found two studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. CONCLUSIONS...

  14. Coronary heart disease (United States)

    Heart disease, Coronary heart disease, Coronary artery disease; Arteriosclerotic heart disease; CHD; CAD ... slow down or stop. A risk factor for heart disease is something that increases your chance of getting ...

  15. Parkinson's Disease Dementia (United States)

    ... Find your local chapter Join our online community Parkinson's Disease Dementia Parkinson's disease dementia is an impairment in ... disease. About Symptoms Diagnosis Causes & risks Treatments About Parkinson's disease dementia The brain changes caused by Parkinson's disease ...

  16. Lyme Disease. (United States)

    Hu, Linden T


    This issue provides a clinical overview of Lyme disease, focusing on prevention, diagnosis, treatment, and practice improvement. The content of In the Clinic is drawn from the clinical information and education resources of the American College of Physicians (ACP), including MKSAP (Medical Knowledge and Self-Assessment Program). Annals of Internal Medicine editors develop In the Clinic in collaboration with the ACP's Medical Education and Publishing divisions and with the assistance of additional science writers and physician writers.


    Institute of Scientific and Technical Information of China (English)


    4.1 Viral disease2003021 Analysis on the epidemiologic features of Dengue fever in Guangdong province, 1990 - 2000. LUO Huiming(罗会明), et al. Dis Contr & Prev Center Guangdong Prov, Guangzhou 510300. Chin J Epi-demiol 2002;23(6):427-430.Objective: To determine the epidemiological characteristics and risk factors of Dengue fever in Guangdong province in 1990 - 2000, and to develop the strategy for

  18. Fungal disease

    Institute of Scientific and Technical Information of China (English)


    930031 Experimental studies on lung lesionsof rabbits caused by streptomyces thermohy-groscopicus.LIU Fang(刘仿),et al.Dept Mi-crobiol,Hubei Med Coll,Xianning Branch,437100.Chin J Tuberc & Respir Dis 1992;15(4):207—208.Imitating the natural way of infection ofFarmer’s lung disease,we succeeded in inducingChina Medical Abstracts(Internal Medicine)

  19. Ledderhose Disease (United States)

    Fausto de Souza, Dominique; Micaelo, Lilian; Cuzzi, Tullia


    Plantar fibromatosis, or Ledderhose disease, is a rare hyperproliferative disorder of the plantar aponeurosis. It may occur at any age with the greatest prevalence at middle age and beyond. This disorder is more common in men than woman and it is sometimes associated with other forms of fibromatosis. A 28-year-old Brazilian woman with a six-year history of painless bilateral plantar nodules is described in this article. PMID:20877526

  20. Wilson's disease. (United States)

    Loudianos, G; Gitlin, J D


    Wilson's disease is an autosomal recessive disorder of copper metabolism resulting from the absence or dysfunction of a copper transporting P-type ATPase encoded on chromosome 13. This ATPase is expressed in hepatocytes where it is localized to the trans-Golgi network and transports copper into the secretory pathway for incorporation into ceruloplasmin and excretion into the bile. Under physiologic circumstances, biliary excretion represents the sole mechanism for copper excretion, and thus affected individuals have progressive copper accumulation in the liver. When the capacity for hepatic storage is exceeded, cell death ensues with copper release into the plasma, hemolysis, and tissue deposition. Presentation in childhood may include chronic hepatitis, asymptomatic cirrhosis, or acute liver failure. In young adults, neuropsychiatric symptoms predominate and include dystonia, tremor, personality changes, and cognitive impairments secondary to copper accumulation in the central nervous system. The laboratory diagnosis of Wilson's disease is confirmed by decreased serum ceruloplasmin, increased urinary copper content, and elevated hepatic copper concentration. Molecular genetic analysis is complex as more than 100 unique mutations have been identified and most individuals are compound heterozygotes. Copper chelation with penicillamine is an effective therapy in most patients and hepatic transplantation is curative in individuals presenting with irreversible liver failure. Elucidation of the molecular genetic basis of Wilson's disease has permitted new insights into the mechanisms of cellular copper homeostasis.

  1. Infectious Disease

    Institute of Scientific and Technical Information of China (English)


    2.1 Viral disease 2006009 Correlation analysis of type A influenza virus genetic variation characteristic with survival selective pressure ZHOU xiao -ming(周晓明 ) ,et al. Sch Pub Health,Fudan Univ. Shanghai 200032. China J Infect Dis 2005;23(4) :221 -224 Objective:To study the relationship betweer. type A influenza virus genetic variation with survival selective pressure to find possible vaccine conserved antigen target. Methods:Seven strains of same HA (Hemagglutinin) serotype, regional and isolation time closely related type A influenza virus were selected with full HA gene coding sequence , Blast2 program was used to calculate the param-

  2. Celiac disease. (United States)

    Polanco, Isabel


    Celiac disease is an immunologically mediated enteropathy of the small intestine, characterized by lifelong intolerance to the gliadin and related prolamines from wheat and other cereals, that occurs in genetically predisposed individuals. Symptoms result from structural damage to the mucosa of the small intestine, which may cause malabsorption with positive autoantibodies in the sera. Normal mucosal architecture is restored after the use of a gluten-free diet and the normalization of the autoantibodies. Villous atrophy and high levels of autoantibodies reappear when gluten is reintroduced into the diet (gluten challenge).

  3. Menkes disease

    DEFF Research Database (Denmark)

    Tümer, Zeynep; Møller, Lisbeth B


    of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy dependent transmembrane protein, which is involved in the delivery of copper to the secreted copper enzymes and in the export......Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority...

  4. Menkes disease


    Tümer, Zeynep; Møller, Lisbeth B


    Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar ‘kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy dependent transmembrane...

  5. Specificity of lectin-immobilized fluorescent nanospheres for colorectal tumors in a mouse model which more resembles the clinical disease (United States)

    Kitamura, Tokio; Sakuma, Shinji; Shimosato, Moe; Higashino, Haruki; Masaoka, Yoshie; Kataoka, Makoto; Yamashita, Shinji; Hiwatari, Ken-ichiro; Kumagai, Hironori; Morimoto, Naoki; Koike, Seiji; Tobita, Etsuo; Hoffman, Robert M.; Gore, John C.; Pham, Wellington


    We are investigating an imaging agent that enables real-time and accurate diagnosis of early colorectal cancer at the intestinal mucosa by colonoscopy. The imaging agent is peanut agglutinin-immobilized polystyrene nanospheres with surface poly(N-vinylacetamide) chains encapsulating coumarin 6. Intracolonically-administered lectin-immobilized fluorescent nanospheres detect tumor-derived changes through molecular recognition of lectin for the terminal sugar of cancer-specific antigens on the mucosal surface. The focus of this study was to evaluate imaging abilities of the nanospheres in animal models that reflect clinical environments. We previously developed an orthotopic mouse model with human colorectal tumors growing on the mucosa of the descending colon to more resemble the clinical disease. The entire colon of the mice in the exposed abdomen was monitored in real-time with an in vivo imaging apparatus. Fluorescence from the nanospheres was observed along the entire descending colon after intracolonical administration of them from the anus. When the luminal side of the colon was washed with PBS, most of the nanospheres drained away. However, fluorescence persisted in areas where the cancer cells were implanted. Histological evaluation demonstrated that tumors were present in the mucosal epithelia where the nanospheres fluoresced. In contrast, no fluorescence was observed when control mice without tumors were tested. The lectin-immobilized fluorescent nanospheres were tumor specific and bound to tumors even after vigorously washing. The nanospheres non-specifically bound to normal mucosa were easily removed through mild washing. Results indicate that the nanospheres accompanied by colonoscopy will be a clinically-valuable diagnostic tool for the early stage primary colon carcinoma. PMID:24976331

  6. Women's Heart Disease: Heart Disease Risk Factors (United States)

    ... this page please turn JavaScript on. Feature: Women's Heart Disease Heart Disease Risk Factors Past Issues / Winter 2014 Table of ... or habits may raise your risk for coronary heart disease (CHD). These conditions are known as risk factors. ...

  7. Occupational Respiratory Disease (United States)

    ... Shortfall Questionnaire Home Diseases and Conditions Occupational Respiratory Disease Occupational Respiratory Disease Condition Occupational HealthPrevention and WellnessStaying Healthy Share ...

  8. Hirayama disease

    Directory of Open Access Journals (Sweden)

    Atul T Tayade


    Full Text Available A 17-year-old male, who gave up his favorite sport cricket and started playing football, presented with one-year history of slowly progressive atrophic weakness of forearms and hands. Neurological examination showed weak and wasted arms, forearms and hand but no evidence of pyramidal tract, spinothalmic tract and posterior column lesions. Plain cervical spine radiographs showed no abnormal findings. Cervical magnetic resonance imaging (MRI showed asymmetric cord atrophy; images obtained with neck flexed showed the anterior shifting of the posterior wall of the lower cervical dural sac resulting in cord compression. These findings suggest Hirayama disease, a kind of cervical myelopathy related to the flexion movements of the neck.

  9. [Bone disease in Gaucher's disease]. (United States)

    Roca Espiau, Mercedes


    The exposition aims, is to review the pathophysiological mechanisms of bone marrow involvement and the patterns of marrow infiltration by Gaucher cells. We have reviewed the different methods of assessment of bone marrow infiltration and its temporal development. Qualitative methods include simple radiography, magnetic resonance imaging (MRI), computed tomography (CT) and radioisotope. The simple radiography is the basic element, but its sensitivity is limited and only allows for assessing changes and trabecular bone remodeling MRI allows us to appreciate the bone marrow infiltration, detection of complications and response to therapy. Radioisotopes can contribute to the differential diagnosis of osteomyelitis and bone crises. Among the quantitative methods are the QCSI (quantitative chemical shift imaging) and the dual-energy X-ray absorptiometry (DEXA), as well as new quantitative techniques of CT, MRI and ultrasound densitometry. The QCSI performed an assessment of fat content of bone marrow in the spine. DEXA quantifies bone density by measuring the attenuation coefficient. The semiquantitative methods have various "scores" to establish criteria for generalized bone disease endpoints of disease progression and response to therapy.

  10. Undifferentiated Connective Tissue Disease (United States)

    ... Home Conditions Undifferentiated Connective Tissue Disease (UCTD) Undifferentiated Connective Tissue Disease (UCTD) Make an Appointment Find a Doctor ... L. Goldstein, MD, MMSc (February 01, 2016) Undifferentiated connective tissue disease (UCTD) is a systemic autoimmune disease. This ...

  11. Men and Heart Disease (United States)

    ... Pressure Salt Cholesterol Million Hearts® WISEWOMAN Men and Heart Disease Fact Sheet Recommend on Facebook Tweet Share Compartir ... Source: Interactive Atlas of Heart Disease and Stroke Heart Disease Facts in Men Heart disease is the leading ...

  12. Inflammation and Heart Disease (United States)

    ... Disease Venous Thromboembolism Aortic Aneurysm More Inflammation and Heart Disease Updated:Oct 12,2016 Understand the risks of ... inflammation causes cardiovascular disease, inflammation is common for heart disease and stroke patients and is thought to be ...

  13. Heart disease and women (United States)

    ... this page: // Heart disease and women To use the sharing features on ... please enable JavaScript. People often DO NOT consider heart disease a woman's disease. Yet cardiovascular disease is the ...

  14. Mitral Valve Disease (United States)

    ... Tricuspid Valve Disease Cardiac Rhythm Disturbances Thoracic Aortic Aneurysm Pediatric and Congenital Heart Disease Heart abnormalities that are ... Transplantation End-stage Lung Disease Adult Lung Transplantation Pediatric Lung ... Aortic Aneurysm Mitral Valve Disease Overview The mitral valve is ...

  15. Interstitial Lung Diseases (United States)

    Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. The inflammation and ... is responsible for some types of interstitial lung diseases. Specific types include Black lung disease among coal ...

  16. Lipid Storage Diseases (United States)

    ... age 2, usually from lung disease. Children with Tay-Sachs and Sandhoff diseases often die at an ... age 2, usually from lung disease. Children with Tay-Sachs and Sandhoff diseases often die at an ...

  17. Sickle Cell Disease (United States)

    ... sickle cell disease?Sickle cell disease, also called sickle cell anemia, is a hereditary condition (which means it runs ... disease, hemoglobin SS disease, hemoglobin synthesis, hemoglobinopathies, ... cell anemia, sickle cell crisis, vaso-occlusive crisis Family Health, ...

  18. Thyroid Disease (for Parents) (United States)

    ... Old Feeding Your 1- to 2-Year-Old Thyroid Disease KidsHealth > For Parents > Thyroid Disease A A ... many other parts of the body. What Is Thyroid Disease? Thyroid disease is when the thyroid gland ...

  19. Thyroid Disease and Teens (United States)

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Thyroid Disease KidsHealth > For Teens > Thyroid Disease A A ... other parts of your body. continue What Is Thyroid Disease? Thyroid disease occurs when the thyroid gland ...

  20. Lipid Storage Diseases (United States)

    ... weeks. What are the types of lipid storage disease? Gaucher disease is caused by a deficiency of the enzyme ... infection. The disease affects males and females equally. Gaucher disease has three common clinical subtypes. Type 1 (or ...

  1. Gaucher Disease in Pregnancy (United States)

    ... from your health care provider. What is Gaucher disease? Gaucher disease is a genetic disorder. People with Gaucher ... severe and depend on the type of Gaucher disease. Gaucher disease occurs in approximately 1 in 60,000 ...

  2. Genetics and Rheumatic Disease (United States)

    ... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

  3. Chronic Beryllium Disease (United States)

    ... Science Education & Training Home Conditions Chronic Beryllium Disease Chronic Beryllium Disease Make an Appointment Find a Doctor ... MD, MSPH, FCCP (February 01, 2016) What is chronic beryllium disease (CBD)? Chronic beryllium disease (CBD) is ...

  4. Parkinson's disease. (United States)

    Benninger, David H


    In advanced Parkinson's disease (PD), the emergence of symptoms refractory to conventional therapy poses therapeutic challenges. The success of deep brain stimulation (DBS) and advances in the understanding of the pathophysiology of PD have raised interest in noninvasive brain stimulation as an alternative therapeutic tool. The rationale for its use draws from the concept that reversing abnormalities in brain activity and physiology thought to cause the clinical deficits may restore normal functioning. Currently the best evidence in support of this concept comes from DBS, which improves motor deficits, and modulates brain activity and motor cortex physiology, although whether a causal interaction exists remains largely undetermined. Most trials of noninvasive brain stimulation in PD have applied repetitive transcranial magnetic stimulation (rTMS), targeting the motor cortex. Current studies suggest a possible therapeutic potential for rTMS and transcranial direct current stimulation (tDCS), but clinical effects so far have been small and negligible with regard to functional independence and quality of life. Approaches to potentiate the efficacy of rTMS include increasing stimulation intensity and novel stimulation parameters that derive their rationale from studies on brain physiology. These novel parameters are intended to simulate normal firing patterns or to act on the hypothesized role of oscillatory activity in the motor cortex and basal ganglia with regard to motor control and its contribution to the pathogenesis of motor disorders. Noninvasive brain stimulation studies will enhance our understanding of PD pathophysiology and might provide further evidence for potential therapeutic applications.

  5. [Castleman disease]. (United States)

    Belletti, Gerardo A; Savio, Verónica; Minoldo, Daniel; Caminos, Susana; Yorio, Marcelo A


    A 66 years female, who was since last year under astenia, arthralgias, pimply lesions in spread plates and tests showing eritrosedimentation over 100 mm, anemi, leucocitosis with neutrofilia, policlonal hypergammaglobulinemia, slight proteinuria and IgE on 900. This patient was sporadically treated with corticoids. When made the medical consult had lost 34lb., was under anorexy, as well as dyspepsia. Hemoglobyn 6.9 gr/dl, leucocytes 20000/mm3, neutrofils at 90%, proteinogram the same as former, with hypoalbuminemia. She was taking prednisona, 16 mg/day. When examined showed depress of conscience, astenia, and dermic lesions already quoted. 4 cm nonpainful right axillary adenopaty adhered to deep planes. Medulogram with increased iron, hyperegenerative. Ganglionar biopsia: linfoid hyperplasic process linked to inmune response. Toracoabdominal tomography with adenomegalia in torax and retroperitoneo. Skin biopsia: neutrofilic vasculitis. The patient suspends the 16 mg of prednisona and fever as well as generalized adenopatias come up. After laying aside other ethiologies, and understanding as Castleman Multicentric disease, it is started to supply prednisona 1 mg/kg of weight with a clinical and biochemical fast and outstanding response. After 7 months it was progressively suspended the esteroids and 60 days later, the process fall back; for that, corticoids are restarted, with a good evolution. The illness of Castleman although it is not very frequent, it should be considered as differential diagnosis in those clinical cases that are accompanied with important general commitment, linphadenopaties and respons to steroid therapy.

  6. Muscle disease. (United States)

    Tsao, Chang-Yong


    On the basis of strong research evidence, Duchenne muscular dystrophy (DMD), the most common severe childhood form of muscular dystrophy, is an X-linked recessive disorder caused by out-of-frame mutations of the dystrophin gene. Thus, it is classified asa dystrophinopathy. The disease onset is before age 5 years. Patients with DMD present with progressive symmetrical limb-girdle muscle weakness and become wheelchair dependent after age 12 years. (2)(3). On the basis of some research evidence,cardiomyopathy and congestive heart failure are usually seen in the late teens in patients with DMD. Progressive scoliosis and respiratory in sufficiency often develop once wheelchair dependency occurs. Respiratory failure and cardiomyopathy are common causes of death, and few survive beyond the third decade of life. (2)(3)(4)(5)(6)(7). On the basis of some research evidence, prednisone at 0.75 mg/kg daily (maximum dose, 40 mg/d) or deflazacort at 0.9 mg/kg daily (maximum dose, 39 mg/d), a derivative of prednisolone (not available in the United States), as a single morning dose is recommended for DMD patients older than 5 years, which may prolong independent walking from a few months to 2 years. (2)(3)(16)(17). Based on some research evidence, treatment with angiotensin-converting enzyme inhibitors, b-blockers, and diuretics has been reported to be beneficial in DMD patients with cardiac abnormalities. (2)(3)(5)(18). Based on expert opinion, children with muscle weakness and increased serum creatine kinase levels may be associated with either genetic or acquired muscle disorders (Tables 1 and 3). (14)(15)

  7. Alzheimer disease: An interactome of many diseases

    Directory of Open Access Journals (Sweden)

    Balaji S Rao


    Full Text Available Alzheimer Disease (AD is an outcome as well as source of many diseases. Alzheimer is linked with many other diseases like Diabetes type 2, cholesterolemia, hypertension and many more. But how each of these diseases affecting other is still unknown to scientific community. Signaling Pathways of one disease is interlinked with other disease. But to what extent healthy brain is affected when any signaling in human body is disturbed is the question that matters. There is a need of Pathway analysis, Protein-Protein interaction (PPI and the conserved interactome study in AD and linked diseases. It will be helpful in finding the potent drug or vaccine target in conscious manner. In the present research the Protein-Protein interaction of all the proteins involved in Alzheimer Disease is analyzed using ViSANT and osprey tools and pathway analysis further reveals the significant genes/proteins linking AD with other diseases.

  8. Inflammatory bowel disease and airway diseases (United States)

    Vutcovici, Maria; Brassard, Paul; Bitton, Alain


    Airway diseases are the most commonly described lung manifestations of inflammatory bowel disease (IBD). However, the similarities in disease pathogenesis and the sharing of important environmental risk factors and genetic susceptibility suggest that there is a complex interplay between IBD and airway diseases. Recent evidence of IBD occurrence among patients with airway diseases and the higher than estimated prevalence of subclinical airway injuries among IBD patients support the hypothesis of a two-way association. Future research efforts should be directed toward further exploration of this association, as airway diseases are highly prevalent conditions with a substantial public health impact. PMID:27678355

  9. Dumping Syndrome (United States)

    ... System & How it Works Digestive Diseases A-Z Dumping Syndrome What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ... the colon and rectum—and anus. What causes dumping syndrome? Dumping syndrome is caused by problems with ...

  10. Anal fissure (United States)

    ... split or tear in the thin moist tissue ( mucosa ) lining the lower rectum (anus). Causes Anal fissures ... Chronic Constipation in infants and children Crohn disease Mucosa Review Date 5/24/2016 Updated by: Mary ...

  11. Disease-Bearing Mosquitoes of North and Central America, the West Indies, and the Philippine Islands (United States)


    Filaria bancroftii. , . .;. Relation to malaria probably negative. Christophers examined ·about 100 specimens, all of which were negative. Habitat...believes the whole sinensis group breeds in dark shady pools. Positive to filaria nocturna. MYZORHYNCHUS V ANUS, Van der Wulp. (Mono. Cu., i, 142; iii...1900). Cuba, Canal Zone, etc. Time of capture.-Jamaica, November to :March; July, in British Guiana. Positive to malaria. Positive to Filaria

  12. Virus diseases of fish (United States)

    Watson, Stanley W.


    Viruses are probably the cause of a wide spectrum of fish diseases. Although relatively few virus diseases of fish are known today, some of the diseases of unknown etiology, as well as some diseases presently accepted as due to bacteria, protozoa, fungi or nutritional deficiencies, possibly will be recognized eventually as virus diseases.

  13. Acquired Cystic Kidney Disease (United States)

    ... Kidney Disease (CKD) What Is Chronic Kidney Disease? Causes of CKD Tests & Diagnosis Managing CKD Eating Right Preventing CKD ... as polycystic kidney disease (PKD), another disease that causes the kidneys to ... chronic kidney disease (CKD)—a condition that develops over many years ...

  14. Skin Diseases: Skin Health and Skin Diseases (United States)

    Skip Navigation Bar Home Current Issue Past Issues Skin Diseases Skin Health and Skin Diseases Past Issues / Fall 2008 Table of Contents ... acne to wrinkles Did you know that your skin is the largest organ of your body? It ...

  15. KEGG DISEASE / Acute encephalitis [KEGG DISEASE

    Lifescience Database Archive (English)

    Full Text Available DISEASE: H01417 Entry H01417Disease Name Acute encephalitis Description Acute encep...ns Infections caused by dsDNA viruses H01417Acute encephalitis Human diseases in ICD-10 classification [BR:b...of the central nervous system G04Encephalitis, myelitis and encephalomyelitis H01417Acute encephalitis Patho...elines for management. Journal Eur J Neurol 12:331-43 (2005) KEGG DISEASE / Acute encephalitis ...

  16. Coronary Artery Disease - Coronary Heart Disease (United States)

    ... result of coronary artery disease, or CAD, said Edward A. Fisher, M.D., Ph.D., M.P. ... Problems and Disease • High Blood Pressure (HBP) • Metabolic Syndrome • Pericarditis • Peripheral Artery Disease (PAD) • Stroke • Vascular Health • ...

  17. KEGG DISEASE / Acute alcohol sensitivity [KEGG DISEASE

    Lifescience Database Archive (English)

    Full Text Available DISEASE: H01071 Entry H01071Disease Name Acute alcohol sensitivity Description Alde...bolism Congenital disorders of carbohydrate metabolism H01071Acute alcohol sensit...eases. Journal Cardiovasc Res 88:51-7 (2010) KEGG DISEASE / Acute alcohol sensitivity ...

  18. Tay-Sachs Disease (United States)

    Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It ... cells, causing mental and physical problems. . Infants with Tay-Sachs disease appear to develop normally for the ...

  19. Cardiovascular Disease and Diabetes (United States)

    ... Disease Venous Thromboembolism Aortic Aneurysm More Cardiovascular Disease & Diabetes Updated:Nov 4,2016 The following statistics speak ... disease. This content was last reviewed August 2015. Diabetes • Home • About Diabetes • Why Diabetes Matters Introduction Cardiovascular ...

  20. Diabetic Heart Disease (United States)

    ... be coronary heart disease (CHD), heart failure, and diabetic cardiomyopathy. Diabetes by itself puts you at risk for heart disease. Other risk factors include Family history of heart disease Carrying extra ...

  1. Kidney Disease (Nephropathy) (United States)

    ... Text Size: A A A Listen En Español Kidney Disease (Nephropathy) Kidneys are remarkable organs. Inside them ... resulting in kidney disease. How Does Diabetes Cause Kidney Disease? When our bodies digest the protein we ...

  2. Liver Disease and IBD (United States)

    ... Home > Resources > Liver Disease and IBD Go Back Liver Disease and IBD Email Print + Share Several complications ... be necessary to make the definitive diagnosis. FATTY LIVER DISEASE (HEPATCI STEATOSIS) This is the most common ...

  3. Autoimmune liver disease panel (United States)

    Liver disease test panel - autoimmune ... Autoimmune disorders are a possible cause of liver disease. The most common of these diseases are autoimmune hepatitis and primary biliary cirrhosis. This group of tests helps your health care provider ...

  4. Pediatric Celiac Disease (United States)

    ... of Pediatric Gastroenterology and Nutrition Nurses Print Share Celiac Disease Many kids have sensitivities to certain foods, ... protein found in wheat, rye, and barley. Pediatric Celiac Disease If your child has celiac disease, consuming ...

  5. Menopause and Heart Disease (United States)

    ... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm More Menopause and Heart Disease Updated:Aug 30,2016 Heart ... can become more evident after the onset of menopause. Menopause does not cause cardiovascular diseases . However, certain ...

  6. Adult Still's disease (United States)

    Still's disease - adult; AOSD ... than 1 out of 100,000 people develop adult-onset Still's disease each year. It affects women more often than men. The cause of adult Still's disease is unknown. No risk factors for ...

  7. Parkinson disease - discharge (United States)

    Your doctor has told you that you have Parkinson disease . This disease affects the brain and leads to ... have you take different medicines to treat your Parkinson disease and many of the problems that may come ...

  8. What Is Parkinson's Disease? (United States)

    ... resources & more. Order Free Materials Today What is Parkinson’s Disease? Parkinson's disease (PD) is a chronic and progressive movement disorder, ... million people in the US are living with Parkinson's disease. The cause is unknown, and although there is ...

  9. Learn About Neuromuscular Disease (United States)

    ... Inherited and Endocrine Myopathies Metabolic Diseases of Muscle Mitochondrial Myopathies (MM) Myotonic Muscular Dystrophy (MMD) Spinal-Bulbar Muscular ... Deficient Congenital Muscular Dystrophy Metabolic Diseases of Muscle Mitochondrial Myopathy Miyoshi Distal Myopathy Motor Neurone Disease Muscle-Eye- ...

  10. Anemia of chronic disease (United States)

    ... disease Long-term infections, such as bacterial endocarditis, osteomyelitis (bone infection), HIV/AIDS , hepatitis B or hepatitis ... disease Crohn disease Erythropoietin test Juvenile idiopathic arthritis Osteomyelitis Rheumatic fever Ulcerative colitis Review Date 2/1/ ...

  11. Understanding cardiovascular disease (United States)

    ... page: // Understanding cardiovascular disease To use the sharing features on this page, ... lead to heart attack or stroke. Types of Cardiovascular Disease Coronary heart disease (CHD) is the most common ...

  12. Cholestatic liver disease masquerading as Wilson disease. (United States)

    Sood, Vikrant; Rawat, Dinesh; Khanna, Rajeev; Alam, Seema


    Wilson disease and cholestatic liver diseases may present as a diagnostic dilemma if standard guidelines incorporating markers of copper overload are followed. We hereby present a series of four cases of sclerosing cholangitis masquerading as Wilson disease. True Wilson disease cases had significantly lower ceruloplasmin (6 vs. 16 mg/dL) and higher 24-hour urinary copper (322.3 vs. 74.5 μg/day) as compared to mimickers. Initial low serum ceruloplasmin levels normalized in mimickers on follow up, and this may used as a diagnostic indicator. Standard Wilson disease diagnostic criteria thus need further modification especially in developing countries to help avoid mismanagement.

  13. Liver in systemic disease

    Institute of Scientific and Technical Information of China (English)


    Potential causes of abnormal liver function tests include viral hepatitis, alcohol intake, nonalcoholic fatty liver disease, autoimmune liver diseases, hereditary diseases, hepatobiliary malignancies or infection, gallstones and drug-induced liver injury. Moreover, the liver may be involved in systemic diseases that mainly affect other organs. Therefore, in patients without etiology of liver injury by screening serology and diagnostic imaging, but who have systemic diseases, the abnormal liver function test results might be caused by the systemic disease. In most of these patients, the systemic disease should be treated primarily. However, some patients with systemic disease and severe liver injury or fulminant hepatic failure require intensive treatments of the liver.

  14. Disease cycle approach to plant disease prediction. (United States)

    De Wolf, Erick D; Isard, Scott A


    Plant disease cycles represent pathogen biology as a series of interconnected stages of development including dormancy, reproduction, dispersal, and pathogenesis. The progression through these stages is determined by a continuous sequence of interactions among host, pathogen, and environment. The stages of the disease cycle form the basis of many plant disease prediction models. The relationship of temperature and moisture to disease development and pathogen reproduction serve as the basis for most contemporary plant disease prediction systems. Pathogen dormancy and inoculum dispersal are considered less frequently. We found extensive research efforts evaluating the performance of prediction models as part of operation disease management systems. These efforts appear to be greater than just a few decades ago, and include novel applications of Bayesian decision theory. Advances in information technology have stimulated innovations in model application. This trend must accelerate to provide the disease management strategies needed to maintain global food supplies.

  15. What Causes Heart Disease? (United States)

    ... page from the NHLBI on Twitter. What Causes Heart Disease? Research suggests that coronary heart disease (CHD) begins with damage to the lining and ... causing coronary microvascular disease (MVD). Coronary MVD is heart disease that affects the heart's tiny arteries. The cause ...

  16. Amyloidosis and Kidney Disease (United States)

    ... Disease Chronic Kidney Disease (CKD) What Is Chronic Kidney Disease? Causes of CKD Tests & Diagnosis Managing CKD Eating Right Preventing CKD What If My Kidneys Fail? Clinical Trials Anemia High Blood Pressure Heart ... Nephropathy Kidney Disease in Children Childhood Nephrotic Syndrome Hemolytic ...

  17. Polycystic Kidney Disease (United States)

    ... Disease Chronic Kidney Disease (CKD) What Is Chronic Kidney Disease? Causes of CKD Tests & Diagnosis Managing CKD Eating Right Preventing CKD What If My Kidneys Fail? Clinical Trials Anemia High Blood Pressure Heart ... Nephropathy Kidney Disease in Children Childhood Nephrotic Syndrome Hemolytic ...


    NARCIS (Netherlands)



    Perianal disease in Crohn's disease is a difficult matter to deal with. The indication for therapy is not always clear in this disease with a relatively mild natural course. More confusion is caused by the fact that not all disease in the perianal region in a patient with Crohn's has to be Crohn-rel

  19. [Wilson's disease: clinical spectrum of liver disease]. (United States)

    Ochoa Palominos, Alejandra; Ibáñez Samaniego, Luis; Catalina Rodríguez, María-Vega; Pajares Díaz, José; Clemente Ricote, Gerardo


    Wilson's disease is a hereditary autosomal recessive disorder of copper metabolism,characterized by copper accumulation in the liver and brain. This rare entity, which has a broad clinical spectrum, is often difficult to diagnose and should therefore always be suspected in patients with liver disease of unclear cause. We describe two types of manifestation of liver disease in two patients; the first developed fulminant hepatic failure requiring urgent liver transplantation and the second showed advanced chronic liver disease and received standard medical treatment. The objective of this clinical observation is to analyze the diagnosis of Wilson's disease in two patients with distinct onset, illustrating the broad clinical spectrum of the disease, and its treatment.

  20. [Periodontal disease in pediatric rheumatic diseases]. (United States)

    Fabri, Gisele M C; Savioli, Cynthia; Siqueira, José T; Campos, Lucia M; Bonfá, Eloisa; Silva, Clovis A


    Gingivitis and periodontitis are immunoinflammatory periodontal diseases characterized by chronic localized infections usually associated with insidious inflammation This narrative review discusses periodontal diseases and mechanisms influencing the immune response and autoimmunity in pediatric rheumatic diseases (PRD), particularly juvenile idiopathic arthritis (JIA), childhood-onset systemic lupus erythematosus (C-SLE) and juvenile dermatomyositis (JDM). Gingivitis was more frequently observed in these diseases compared to health controls, whereas periodontitis was a rare finding. In JIA patients, gingivitis and periodontitis were related to mechanical factors, chronic arthritis with functional disability, dysregulation of the immunoinflammatory response, diet and drugs, mainly corticosteroids and cyclosporine. In C-SLE, gingivitis was associated with longer disease period, high doses of corticosteroids, B-cell hyperactivation and immunoglobulin G elevation. There are scarce data on periodontal diseases in JDM population, and a unique gingival pattern, characterized by gingival erythema, capillary dilation and bush-loop formation, was observed in active patients. In conclusion, gingivitis was the most common periodontal disease in PRD. The observed association with disease activity reinforces the need for future studies to determine if resolution of this complication will influence disease course or severity.

  1. Huntington’s Disease (United States)


    New advances in disease testing and diagnosis, such as genetic testing , now provide increased means for disease diagnosis but also possible therapeutic...treatments. Indeed, according to some experts, genetic testing and therapy may be key to future disease detection, therapy, and even prevention. In...associated with its long-term management. 15. SUBJECT TERMS Neurological disease , genetic testing , aeromedical concerns, Huntington’s disease 16

  2. Pregnancy and periodontal disease


    SAĞLAM, Ebru; SARUHAN, Nesrin; Çanakçı, Cenk Fatih


    Some maternal immunological changes due to pregnancy increases susceptibility to infections. Periodontal disease, the main cause is plaque, is a common disease which is seen multifactorial and varying severity. There are many clinical criteria for diagnosis of periodontal disease. Correlation between pregnancy and periodontal inflammation is known for many years. Periodontal disease affects pregnant’s systemic condition and also has negative effects on fetus. Periodontal disease increases the...

  3. Genetic diseases in adults. (United States)

    Kolettis, Peter N


    Genetic diseases that do not primarily affect the genitourinary tract may have urologic manifestations. These urologic manifestations range from benign and malignant renal disease to infertility. Thus, the practicing urologist may be involved in the care of these patients and should have knowledge of these diseases. Continued improvements in the diagnosis and treatment of these genetic diseases will likely result in improved survival and will increase the number of patients who may develop urologic manifestations of these diseases.

  4. Human Environmental Disease Network

    DEFF Research Database (Denmark)

    Taboureau, Olivier; Audouze, Karine


    During the past decades, many epidemiological, toxicological and biological studies have been performed to assess the role of environmental chemicals as potential toxicants for diverse human disorders. However, the relationships between diseases based on chemical exposure have been rarely studied...... by computational biology. We developed a human environmental disease network (EDN) to explore and suggest novel disease-disease and chemical-disease relationships. The presented scored EDN model is built upon the integration on systems biology and chemical toxicology using chemical contaminants information...... and their disease relationships from the reported TDDB database. The resulting human EDN takes into consideration the level of evidence of the toxicant-disease relationships allowing including some degrees of significance in the disease-disease associations. Such network can be used to identify uncharacterized...

  5. Aspirin and heart disease (United States)

    ... Aspirin and heart disease To use the sharing features on this page, ... healthy people who are at low risk for heart disease. You provider will consider your overall medical condition ...

  6. Hypertensive heart disease (United States)

    ... page: // Hypertensive heart disease To use the sharing features on this page, please enable JavaScript. Hypertensive heart disease refers to heart problems that occur because of ...

  7. Congenital heart disease (United States)

    ... page: // Congenital heart disease To use the sharing features on this page, please enable JavaScript. Congenital heart disease (CHD) is a problem with the heart's structure ...

  8. Cyanotic heart disease (United States)

    ... page: // Cyanotic heart disease To use the sharing features on this page, please enable JavaScript. Cyanotic heart disease refers to a group of many different heart ...

  9. Caffeine and Heart Disease (United States)

    ... Healthy Workplace Food and Beverage Toolkit Caffeine and Heart Disease Updated:Aug 17,2015 Caffeine has many metabolic ... high caffeine intake increases the risk of coronary heart disease is still under study. Many studies have been ...

  10. Carotid Artery Disease (United States)

    ... Kawasaki Disease Long Q-T Syndrome Marfan Syndrome Metabolic Syndrome Mitral Valve Prolapse Myocardial Bridge Myocarditis Obstructive Sleep Apnea Pericarditis Peripheral Vascular Disease Rheumatic Fever Sick Sinus Syndrome Silent Ischemia Stroke Sudden ...

  11. Degenerative Nerve Diseases (United States)

    Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many of these diseases are genetic. Sometimes the cause is a medical ...

  12. Sexually Transmitted Diseases (United States)

    Sexually transmitted diseases (STDs) are infections that are passed from one person to another through sexual contact. The causes of STDs ... often help with the symptoms and keep the disease under control. Correct usage of latex condoms greatly ...

  13. Lyme Disease Data (United States)

    ... Lyme disease FAQ Health care providers Educational materials Data and Statistics Recommend on Facebook Tweet Share Compartir ... in the northeast and upper Midwest. Lyme Disease Data File To facilitate the public health and research ...

  14. Sickle Cell Disease Quiz (United States)

    ... Websites About Us Information For... Media Policy Makers Sickle Cell Disease Quiz Language: English Español (Spanish) Recommend on ... 1. True or False: Only African Americans get sickle cell disease. A True B False 2. True or ...

  15. Feline corneal disease. (United States)

    Moore, Phillip Anthony


    The cornea is naturally transparent. Anything that interferes with the cornea's stromal architecture, contributes to blood vessel migration, increases corneal pigmentation, or predisposes to corneal edema, disrupts the corneas transparency and indicates corneal disease. The color, location, and shape and pattern of a corneal lesion can help in determining the underlying cause for the disease. Corneal disease is typically divided into congenital or acquired disorders. Congenital disorders, such as corneal dermoids are rare in cats, whereas acquired corneal disease associated with nonulcerative or ulcerative keratitis is common. Primary ocular disease, such as tear film instability, adenexal disease (medial canthal entropion, lagophthalmus, eyelid agenesis), and herpes keratitis are associated with the majority of acquired corneal disease in cats. Proliferative/eosinophilic keratitis, acute bullous keratopathy, and Florida keratopathy are common feline nonulcerative disorders. Nonprogressive ulcerative disease in cats, such as chronic corneal epithelial defects and corneal sequestration are more common than progressive corneal ulcerations.

  16. American Behcet's Disease Association (United States)

    ... Behcet's Awareness Day Behcet's Disease Awareness Share your story and educate others about Behcet's: Upcoming Events American Behcet's Disease Association PO BOX 80576 Rochester, MI ...

  17. [Depression and neurological diseases]. (United States)

    Piber, D; Hinkelmann, K; Gold, S M; Heesen, C; Spitzer, C; Endres, M; Otte, C


    In many neurological diseases a depressive syndrome is a characteristic sign of the primary disease or is an important comorbidity. Post-stroke depression, for example, is a common and relevant complication following ischemic brain infarction. Approximately 4 out of every 10 stroke patients develop depressive disorders in the course of the disease which have a disadvantageous effect on the course and the prognosis. On the other hand depression is also a risk factor for certain neurological diseases as was recently demonstrated in a meta-analysis of prospective cohort studies which revealed a much higher stroke risk for depressive patients. Furthermore, depression plays an important role in other neurological diseases with respect to the course and quality of life, such as Parkinson's disease, multiple sclerosis and epilepsy. This article gives a review of the most important epidemiological, pathophysiological and therapeutic aspects of depressive disorders as a comorbidity of neurological diseases and as a risk factor for neurological diseases.

  18. Chronic Kidney Diseases (United States)

    ... Room? What Happens in the Operating Room? Chronic Kidney Diseases KidsHealth > For Kids > Chronic Kidney Diseases Print ... re talking about your kidneys. What Are the Kidneys? Your kidneys are tucked under your lower ribs ...

  19. Polycystic kidney disease (United States)

    Cysts - kidneys; Kidney - polycystic; Autosomal dominant polycystic kidney disease; ADPKD ... Polycystic kidney disease (PKD) is passed down through families (inherited). The 2 inherited forms of PKD are autosomal dominant ...

  20. Kidney Disease Basics (United States)

    ... Links Take the first step Alternate Language URL Kidney Disease Basics Page Content Your kidneys filter extra ... blood pressure are the most common causes of kidney disease. ​These conditions can slowly damage the kidneys ...

  1. Diet - chronic kidney disease (United States)

    ... page: // Diet - chronic kidney disease To use the sharing features on this page, ... make changes to your diet when you have chronic kidney disease. These changes may include limiting fluids, eating a ...

  2. Diabetes and Kidney Disease (United States)

    ... disease of diabetes, or diabetic nephropathy. How does diabetes cause kidney disease? High blood glucose , also called ... I keep my kidneys healthy if I have diabetes? The best way to slow or prevent diabetes- ...

  3. Creutzfeldt-Jakob disease (United States)

    ... part of a funeral ritual) Scrapie (found in sheep) Other very rare inherited human diseases, such as ... markers that sometimes occur with the disease CT scan of the brain Electroencephalogram (EEG) MRI of the ...

  4. Alcoholic liver disease (United States)

    Liver disease due to alcohol; Cirrhosis or hepatitis - alcoholic; Laennec's cirrhosis ... Alcoholic liver disease occurs after years of heavy drinking. Over time, scarring and cirrhosis can occur. Cirrhosis is the ...

  5. Lewy Body Disease (United States)

    Lewy body disease is one of the most common causes of dementia in the elderly. Dementia is the loss ... enough to affect normal activities and relationships. Lewy body disease happens when abnormal structures, called Lewy bodies, ...

  6. Celiac Disease Tests (United States)

    ... be limited. Home Visit Global Sites Search Help? Celiac Disease Antibody Tests Share this page: Was this ... else I should know? How is it used? Celiac disease antibody tests are primarily used to help ...

  7. Celiac disease - sprue (United States)

    ... Gluten intolerance; Gluten-sensitive enteropathy; Gluten-free diet celiac disease ... The exact cause of celiac disease is unknown. The lining of the intestines have small areas called villi which project outward into the opening of ...

  8. Treatments for Alzheimer's Disease (United States)

    ... 3900 Find your chapter: search by state Home > Alzheimer's Disease > Treatments Overview What Is Dementia? What Is Alzheimer's? ... and move closer to a cure. Treatments for Alzheimer's disease Currently, there is no cure for Alzheimer's. But ...

  9. Women and Parasitic Diseases (United States)

    ... Resources How to Find A Physician Diagnosis of Parasitic Diseases Statistics More Information Get Email Updates To receive ... often need special consideration when being treated for parasitic diseases in order to avoid harm to the fetus, ...

  10. Diagnosis of Parasitic Diseases (United States)

    ... Laboratory Diagnostic Assistance [DPDx] Parasites Home Diagnosis of Parasitic Diseases Recommend on Facebook Tweet Share Compartir On this ... the United States cannot diagnose parasites? How are parasitic diseases diagnosed? Many kinds of lab tests are available ...

  11. Celiac disease - nutritional considerations (United States)

    ... this page: // Celiac disease - nutritional considerations To use the sharing features on this page, please enable JavaScript. Celiac disease is an immune disorder passed down through families. ...

  12. Learning about Huntington's Disease (United States)

    ... Mouse Models Of Huntington's Disease 1998 News Release Learning About Huntington's Disease What do we know about ... and treatment information. Hosted by the Dolan DNA Learning Center at Cold Spring Harbor Laboratory. Huntington's Outreach ...

  13. Valvular heart disease


    Gelson, E; Gatzoulis, M; Johnson, M.


    Valvular disease may be unmasked in pregnancy when physiological changes increase demands on the heart. Women with valvular heart disease require close follow-up during pregnancy, delivery, and postpartum

  14. Pelizaeus-Merzbacher Disease (United States)

    ... diseases associated with PLP1, which also includes Spastic Paraplegia Type 2 (SPG2). The PLP1-related disorders span ... diseases associated with PLP1, which also includes Spastic Paraplegia Type 2 (SPG2). The PLP1-related disorders span ...

  15. Learning about Parkinson's Disease (United States)

    ... Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases Journal of Biological Chemistry , June 9, 2011 Learning ... Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases Journal of Biological Chemistry , June 9, 2011 Get ...

  16. Hypothyroidism and Heart Disease (United States)

    ... in Balance › Hypothyroidism and Heart Disease Fact Sheet Hypothyroidism and Heart Disease January 2014 Download PDFs English ... nervous system, body temperature, and weight. What is hypothyroidism and what are its symptoms? Hypothyroidism, also called ...

  17. Chronic granulomatous disease (United States)

    CGD; Fatal granulomatosis of childhood; Chronic granulomatous disease of childhood; Progressive septic granulomatosis ... In chronic granulomatous disease (CGD), immune system cells called phagocytes are unable to kill some types of bacteria and ...

  18. Tay-Sachs Disease (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  19. Infantile Refsum Disease (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  20. Creutzfeldt-Jakob Disease (United States)

    ... and how the disorder damages the brain. Using rodent models of the disease and brain tissue from ... and how the disorder damages the brain. Using rodent models of the disease and brain tissue from ...

  1. Lyme disease antibody (United States)

    ... JavaScript. The Lyme disease blood test looks for antibodies in the blood to the bacteria that causes ... needed. A laboratory specialist looks for Lyme disease antibodies in the blood sample using the ELISA test . ...

  2. Fibrocystic breast disease (United States)

    Fibrocystic breast disease; Mammary dysplasia; Diffuse cystic mastopathy; Benign breast disease; Glandular breast changes ... made in the ovaries may make a woman's breasts feel swollen, lumpy, or painful before or during ...

  3. Sickle Cell Disease (United States)

    ... About Us Overview of CDC’s work. Advancements in Sickle Cell Disease New supplement from the American Journal of Preventive Medicine describes the state of sickle cell disease related care in the United States. Read Supplement ...

  4. Pediatric inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    Karen A Diefenbach; Christopher K Breuer


    Inflammatory bowel disease is an important cause of gastrointestinal pathology in children and adolescents.The incidence of pediatric inflammatory bowel disease is increasing; therefore, it is important for the clinician to be aware of the presentation of this disease in the pediatric population. Laboratory tests, radiology studies,and endoscopic procedures are helpful in diagnosing inflammatory bowel disease and differentiating between Crohn's disease and ulcerative colitis. Once diagnosed,the goal of medical management is to induce remission of disease while minimizing the side effects of the medication. Specific attention needs to be paid to achieving normal growth in this susceptible population.Surgical management is usually indicated for failure of medical management, complication, or malignancy.Algorithms for diagnostic evaluation and treatment of pediatric inflammatory bowel disease are presented.The specific psychosocial issues facing these patients are also discussed in this review as are the future goals of research in the complex problem of pediatric inflammatory bowel disease.

  5. Managing Your Parkinson's Disease (United States)

    ... Patient Advocates Sign Up for Funding News npj Parkinson's Disease Scientific Advisory Board Understanding Parkinson's Coping with a Diagnosis What is Parkinson’s Disease? National HelpLine Educational Publications Online Seminars Parkinson's News ...

  6. Pain in Parkinson's Disease (United States)

    ... Patient Advocates Sign Up for Funding News npj Parkinson's Disease Scientific Advisory Board Understanding Parkinson's Coping with a Diagnosis What is Parkinson’s Disease? National HelpLine Educational Publications Online Seminars Parkinson's News ...

  7. Parkinson's Disease Foundation Newsletter (United States)

    ... Patient Advocates Sign Up for Funding News npj Parkinson's Disease Scientific Advisory Board Understanding Parkinson's Coping with a Diagnosis What is Parkinson’s Disease? National HelpLine Educational Publications Online Seminars Parkinson's News ...

  8. Parkinson's Disease Foundation (United States)

    ... Patient Advocates Sign Up for Funding News npj Parkinson's Disease Scientific Advisory Board Understanding Parkinson's Coping with a Diagnosis What is Parkinson’s Disease? National HelpLine Educational Publications Online Seminars Parkinson's News ...

  9. What Is Kawasaki Disease? (United States)

    ANSWERS by heart Cardiovascular Conditions What Is Kawasaki Disease? Kawasaki disease is a children’s illness. It’s also known as Kawasaki syndrome or mucocutaneous lymph node syndrome. About 80 percent of people with ...

  10. Heart Diseases--Prevention (United States)

    ... you have a close family member who had heart disease at an early age. Fortunately, there are many things you can do reduce your chances of getting heart disease. You should Know your blood pressure and keep ...

  11. APOE Genotyping, Cardiovascular Disease (United States)

    ... Home Visit Global Sites Search Help? APOE Genotyping, Cardiovascular Disease Share this page: Was this page helpful? Also ... of choice to decrease the risk of developing cardiovascular disease (CVD) . However, there is a wide variability in ...

  12. [Emerging noninfectious diseases]. (United States)

    Consiglio, Ezequiel


    In recent years, emerging diseases were defined as being infectious, acquiring high incidence, often suddenly, or being a threat or an unexpected phenomenon. This study discusses the hallmarks of emerging diseases, describing the existence of noninfectious emerging diseases, and elaborating on the advantages of defining noninfectious diseases as emerging ones. From the discussion of various mental health disorders, nutritional deficiencies, external injuries and violence outcomes, work injuries and occupational health, and diseases due to environmental factors, the conclusion is drawn that a wide variety of noninfectious diseases can be defined as emergent. Noninfectious emerging diseases need to be identified in order to improve their control and management. A new definition of "emergent disease" is proposed, one that emphasizes the pathways of emergence and conceptual traits, rather than descriptive features.

  13. Self Inflicted Dermatological Diseases

    Directory of Open Access Journals (Sweden)

    Ertuğrul H. Aydemir


    Full Text Available This group of diseases are characterised with the aggravated types of stress releasing behaviors like scratching, picking, squeezing, and sucking. Lichen simplex chronicus, prurigo nodularis, neurotic excoriations, trichotillomani, and onychotillomani are the diseases in this group. Depression, anxiety, and obsesif compulsive disease are the main underlying psychologic diseases. They need a skillfull psychiatric approach in addition to dermatologic treatment, and should be treated with patience in a long duration.

  14. Functional bowel disease

    DEFF Research Database (Denmark)

    Rumessen, J J; Gudmand-Høyer, E


    Twenty-five patients with functional bowel disease were given fructose, sorbitol, fructose-sorbitol mixtures, and sucrose. The occurrence of malabsorption was evaluated by means of hydrogen breath tests and the gastrointestinal symptoms, if any, were recorded. One patient could not be evaluated...... with functional bowel disease. The findings may have direct influence on the dietary guidance given to a major group of patients with functional bowel disease and may make it possible to define separate entities in this disease complex....

  15. Genetics of complex diseases. (United States)

    Motulsky, Arno G


    Approaches to the study of the genetic basis of common complex diseases and their clinical applications are considered. Monogenic Mendelian inheritance in such conditions is infrequent but its elucidation may help to detect pathogenic mechanisms in the more common variety of complex diseases. Involvement by multiple genes in complex diseases usually occurs but the isolation and identification of specific genes so far has been exceptional. The role of common polymorphisms as indicators of disease risk in various studies is discussed.

  16. Spinal Cord Diseases (United States)

    ... damages the vertebrae or other parts of the spine, this can also injure the spinal cord. Other spinal cord problems include Tumors Infections such as meningitis and polio Inflammatory diseases Autoimmune diseases Degenerative diseases such as amyotrophic lateral sclerosis and spinal ...

  17. Heart Disease in Women (United States)

    ... United States, 1 in 4 women dies from heart disease. The most common cause of heart disease in both men and women is narrowing or ... It's the major reason people have heart attacks. Heart diseases that affect women more than men include Coronary ...

  18. Living with Heart Disease (United States)

    ... page from the NHLBI on Twitter. Living With Heart Disease If you have coronary heart disease (CHD), you can take steps to control its ... the section of this article titled "How Is Heart Disease Treated?" You also can visit the Health Topics ...

  19. Venereal Disease Education. (United States)

    Lama, Jerry

    This speech on venereal disease education uses as its focus this quotation from George Santayana, "Those who cannot remember the past are doomed to repeat it." The author presents a brief history of venereal disease education and statistics on the present rate of venereal disease. He concludes that past research and experience indicate that…

  20. Research Areas: Liver Disease (United States)

    ... and C, or by genetic mutations. Other liver diseases can be triggered by autoimmune reactions or drug toxicity. The rise in obesity in the United States has led to a rise in nonalcoholic fatty liver disease. Many liver diseases place individuals at higher risk ...

  1. Epilepsy is a disease!

    Directory of Open Access Journals (Sweden)

    Walter Oleschko Arruda


    Full Text Available According to the definition of disease, epilepsy shall not be considered neither a symptom nor a syndrome. Epilepsy is a generic term for a group of diseases characterized by seizures. It implies a state quite distinct from health. Therefore it seems worthy to keep epilepsy as such in the International Classification of Diseases (ICD.

  2. Pompe disease: clinical perspectives

    Directory of Open Access Journals (Sweden)

    Cabello JF


    Full Text Available Juan Francisco Cabello,1 Deborah Marsden21Genetics and Metabolic Disease Laboratory, Nutrition and Food Technology Institute (INTA, University of Chile, Santiago, Chile; 2Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA Abstract: Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300 is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage disease type II. There is a broad clinical presentation: the most severe form that presents in the first few months of life with cardiomyopathy and generalized muscle weakness that rapidly progresses to death from cardio-respiratory failure in the first year of life (infant-onset Pompe disease. A more slowly progressive disease, with little or no cardiac involvement, presents with proximal myopathy and/or pulmonary insufficiency, from the second year of life to late adulthood (late-onset Pompe disease. The recent development and introduction of enzyme replacement therapy with intravenous infusion of recombinant human acid alpha-glucosidase have made a major improvement in the morbidity and mortality of this disease. New therapies are also in development. With the availability of treatment, diagnostic methods have also improved, allowing for earlier recognition and potential early therapeutic intervention. The advent of newborn screening for Pompe disease may identify patients who can be treated before significant irreversible disease has occurred. Keywords: Pompe disease, glycogen storage disease, lysosomal storage disease, enzyme replacement therapy, gene therapy, chaperone therapy, genotype/phenotype, newborn screening

  3. What Is Crohn's Disease? (United States)

    ... What are Crohn's & Colitis? > What is Crohn’s Disease? Crohn’s Disease is a Chronic Condition By understanding your body ... live a full and rewarding life What is Crohn’s Disease? Email Print + Share Named after Dr. Burrill B. ...

  4. Glycation in Parkinson's disease and Alzheimer's disease. (United States)

    Vicente Miranda, Hugo; El-Agnaf, Omar M A; Outeiro, Tiago Fleming


    Glycation is a spontaneous age-dependent posttranslational modification that can impact the structure and function of several proteins. Interestingly, glycation can be detected at the periphery of Lewy bodies in the brain in Parkinson's disease. Moreover, α-synuclein can be glycated, at least under experimental conditions. In Alzheimer's disease, glycation of amyloid β peptide exacerbates its toxicity and contributes to neurodegeneration. Recent studies establish diabetes mellitus as a risk factor for several neurodegenerative disorders, including Parkinson's and Alzheimer's diseases. However, the mechanisms underlying this connection remain unclear. We hypothesize that hyperglycemia might play an important role in the development of these disorders, possibly by also inducing protein glycation and thereby dysfunction, aggregation, and deposition. Here, we explore protein glycation as a common player in Parkinson's and Alzheimer's diseases and propose it may constitute a novel target for the development of strategies for neuroprotective therapeutic interventions. © 2016 International Parkinson and Movement Disorder Society.

  5. Radiotherapy of benign diseases

    Energy Technology Data Exchange (ETDEWEB)

    Haase, W.


    Still today radiotherapy is of decisive relevance for several benign diseases. The following ones are briefly described in this introductory article: 1. Certain inflammatory and degenerative diseases as furuncles in the face, acute thrombophlebitis, recurrent pseudoriparous abscesses, degenerative skeletal diseases, cervical syndrome and others; 2. rheumatic joint diseases; 3. Bechterew's disease; 4. primary presenile osteoporosis; 5. syringomyelia; 6. endocrine ophthalmopathy; 7. hypertrophic processes of the connective tissue; 8. hemangiomas. A detailed discussion and a profit-risk analysis is provided in the individual chapters of the magazine.

  6. Genetics of complex diseases

    DEFF Research Database (Denmark)

    Mellerup, Erling; Møller, Gert Lykke; Koefoed, Pernille


    A complex disease with an inheritable component is polygenic, meaning that several different changes in DNA are the genetic basis for the disease. Such a disease may also be genetically heterogeneous, meaning that independent changes in DNA, i.e. various genotypes, can be the genetic basis...... for the disease. Each of these genotypes may be characterized by specific combinations of key genetic changes. It is suggested that even if all key changes are found in genes related to the biology of a certain disease, the number of combinations may be so large that the number of different genotypes may be close...

  7. Rapidly progressive Alzheimer disease. (United States)

    Schmidt, Christian; Wolff, Martin; Weitz, Michael; Bartlau, Thomas; Korth, Carsten; Zerr, Inga


    Different rates of progression have been observed among patients with Alzheimer disease. Risk factors that accelerate deterioration have been identified and some are being discussed, such as genetics, comorbidity, and the early appearance of Alzheimer disease motor signs. Progressive forms of Alzheimer disease have been reported with rapid cognitive decline and disease duration of only a few years. This short review aims to provide an overview of the current knowledge of rapidly progressive Alzheimer disease. Furthermore, we suggest that rapid, in this context, should be defined as a Mini-Mental State Examination score decrease of 6 points per year.

  8. Meditation and neurodegenerative diseases. (United States)

    Newberg, Andrew B; Serruya, Mijail; Wintering, Nancy; Moss, Aleezé Sattar; Reibel, Diane; Monti, Daniel A


    Neurodegenerative diseases pose a significant problem for the healthcare system, doctors, and patients. With an aging population, more and more individuals are developing neurodegenerative diseases and there are few treatment options at the present time. Meditation techniques present an interesting potential adjuvant treatment for patients with neurodegenerative diseases and have the advantage of being inexpensive, and easy to teach and perform. There is increasing research evidence to support the application of meditation techniques to help improve cognition and memory in patients with neurodegenerative diseases. This review discusses the current data on meditation, memory, and attention, and the potential applications of meditation techniques in patients with neurodegenerative diseases.

  9. Parkinson's disease and osteoporosis. (United States)

    Vaserman, Nathalie


    Parkinson's disease is associated with an increased risk of falls. The risk is greatest in patients with advanced disease. Because Parkinson's disease usually occurs late in life, the risk factors related to the neurological impairments add to those associated with aging. The incidence of fractures is high in patients with Parkinson's disease, with femoral neck fractures in older women being particularly common. Risk factors for fractures include a low body mass index, limited exposure to sunlight, an inadequate vitamin D intake with low 25-OH vitamin D levels, and bone loss. Several studies found decreased bone mineral density values at the femoral neck and lumbar spine in patients with Parkinson's disease. Although this decrease is ascribable in part to factors unrelated with Parkinson's disease, such as older age and female gender, Parkinson's disease itself also plays a role, most notably in patients with severe neurological impairments (Hoehn and Yahr stages III and IV).

  10. [The Idiopathic Parkinson's disease: A metabolic disease?]. (United States)

    Rieu, I; Boirie, Y; Morio, B; Derost, P; Ulla, M; Marques, A; Debilly, B; Bannier, S; Durif, F


    Parkinson's disease is a neurodegenerative disorder clinically characterized by motor impairments (tremor, bradykinesia, rigidity and postural instability) associated or not with non-motor complications (cognitive disorders, dysautonomia). Most of patients loose weight during evolution of their disease. Dysregulations of hypothalamus, which is considered as the regulatory center of satiety and energy metabolism, could play a major role in this phenomenon. Deep brain stimulation of the subthalamic nucleus (NST) is an effective method to treat patients with advanced Parkinson's disease providing marked improvement of motor impairments. This chirurgical procedure also induces a rapid and strong body weight gain and sometimes obesity. This post-operative weight gain, which exceeds largely weight lost recorded in non-operated patient, could be responsible of metabolic disorders (such as diabetes) and cardiovascular diseases. This review describes body weight variations generated by Parkinson' disease and deep brain stimulation of the NST, and focuses on metabolic disorders capable to explain them. Finally, this review emphasizes on the importance of an adequate nutritional follow up care for parkinsonian patient.

  11. Genetics of Proteasome Diseases

    Directory of Open Access Journals (Sweden)

    Aldrin V. Gomes


    Full Text Available The proteasome is a large, multiple subunit complex that is capable of degrading most intracellular proteins. Polymorphisms in proteasome subunits are associated with cardiovascular diseases, diabetes, neurological diseases, and cancer. One polymorphism in the proteasome gene PSMA6 (−8C/G is associated with three different diseases: type 2 diabetes, myocardial infarction, and coronary artery disease. One type of proteasome, the immunoproteasome, which contains inducible catalytic subunits, is adapted to generate peptides for antigen presentation. It has recently been shown that mutations and polymorphisms in the immunoproteasome catalytic subunit PSMB8 are associated with several inflammatory and autoinflammatory diseases including Nakajo-Nishimura syndrome, CANDLE syndrome, and intestinal M. tuberculosis infection. This comprehensive review describes the disease-related polymorphisms in proteasome genes associated with human diseases and the physiological modulation of proteasome function by these polymorphisms. Given the large number of subunits and the central importance of the proteasome in human physiology as well as the fast pace of detection of proteasome polymorphisms associated with human diseases, it is likely that other polymorphisms in proteasome genes associated with diseases will be detected in the near future. While disease-associated polymorphisms are now readily discovered, the challenge will be to use this genetic information for clinical benefit.

  12. Coeliac disease and epilepsy.

    LENUS (Irish Health Repository)

    Cronin, C C


    Whether there is an association between coeliac disease and epilepsy is uncertain. Recently, a syndrome of coeliac disease, occipital lobe epilepsy and cerebral calcification has been described, mostly in Italy. We measured the prevalence of coeliac disease in patients attending a seizure clinic, and investigated whether cerebral calcification occurred in patients with both coeliac disease and epilepsy. Screening for coeliac disease was by IgA endomysial antibody, measured by indirect immunofluorescence using sections of human umbilical cord. Of 177 patients screened, four patients were positive. All had small-bowel histology typical of coeliac disease. The overall frequency of coeliac disease in this mixed patient sample was 1 in 44. In a control group of 488 pregnant patients, two serum samples were positive (1 in 244). Sixteen patients with both coeliac disease and epilepsy, who had previously attended this hospital, were identified. No patient had cerebral calcification on CT scanning. Coeliac disease appears to occur with increased frequency in patients with epilepsy, and a high index of suspicion should be maintained. Cerebral calcification is not a feature of our patients with epilepsy and coeliac disease, and may be an ethnically-or geographically-restricted finding.

  13. Multiple cystic lung disease

    Directory of Open Access Journals (Sweden)

    Flavia Angélica Ferreira Francisco


    Full Text Available Multiple cystic lung disease represents a diverse group of uncommon disorders that can present a diagnostic challenge due to the increasing number of diseases associated with this presentation. High-resolution computed tomography of the chest helps to define the morphological aspects and distribution of lung cysts, as well as associated findings. The combination of appearance upon imaging and clinical features, together with extrapulmonary manifestations, when present, permits confident and accurate diagnosis of the majority of these diseases without recourse to open-lung biopsy. The main diseases in this group that are discussed in this review are lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis and folliculin gene-associated syndrome (Birt–Hogg–Dubé; other rare causes of cystic lung disease, including cystic metastasis of sarcoma, are also discussed. Disease progression is unpredictable, and understanding of the complications of cystic lung disease and their appearance during evolution of the disease are essential for management. Correlation of disease evolution and clinical context with chest imaging findings provides important clues for defining the underlying nature of cystic lung disease, and guides diagnostic evaluation and management.

  14. Celiac disease and gluten-associated diseases. (United States)

    Helms, Steve


    Celiac disease develops from an autoimmune response to specific dietary grains that contain gluten. Diagnosis can be made based on the classical presentation of diarrhea, fatty stools, and abdominal bloating and cramping, as well as the presence of specific serum antibodies. In addition, gluten ingestion has increasingly been found to be associated with other conditions not usually correlated with gluten intolerance. The subsequent diversity of the clinical presentation in these cases can complicate decision-making and delay treatment initiation in conditions such as ataxia, headaches, arthritis, neuropathy, type 1 diabetes mellitus, and others. This review explores the etiology and pathology of celiac disease, presents support for the relationship between gluten and other diseases, and provides effective screening and treatment protocols.

  15. Congenital Heart Disease in Adults (United States)

    ... and genetics may play a role. Why congenital heart disease resurfaces in adulthood Some adults may find that ... in following adults with congenital heart disease. Congenital heart disease and pregnancy Women with congenital heart disease who ...

  16. Sickle Cell Disease (For Parents) (United States)

    ... Old Feeding Your 1- to 2-Year-Old Sickle Cell Disease KidsHealth > For Parents > Sickle Cell Disease Print ... healthy, and productive lives. A Closer Look at Sickle Cell Disease The different types of sickle cell disease ...

  17. Genetics Home Reference: Alzheimer disease (United States)

    ... Me Understand Genetics Home Health Conditions Alzheimer disease Alzheimer disease Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Alzheimer disease is a degenerative disease of the brain ...

  18. Bladder Control and Nerve Disease (United States)

    ... procedure at regular intervals, a practice called clean intermittent catheterization. Some patients cannot place their own catheters ... Weight Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition Blood Diseases Diagnostic Tests La información de ...

  19. Diagnosis of Pompe disease

    DEFF Research Database (Denmark)

    Vissing, John; Lukacs, Zoltan; Straub, Volker


    of the methods used in the diagnosis and differential diagnosis of late-onset Pompe disease. Muscle biopsy is commonly used as an early diagnostic tool in the evaluation of muscle disease. However, experience has shown that relying solely on visualizing a periodic acid-Schiff-positive vacuolar myopathy...... will improve patient outcomes as care standards including enzyme replacement therapy can be applied and complications can be anticipated. Increased awareness of the clinical phenotype of Pompe disease is therefore warranted to expedite diagnostic screening for this condition with blood-based enzymatic assays.......The diagnosis of Pompe disease (acid maltase deficiency, glycogen storage disease type II) in children and adults can be challenging because of the heterogeneous clinical presentation and considerable overlap of signs and symptoms found in other neuromuscular diseases. This review evaluates some...

  20. [Physical diseases in alcoholism]. (United States)

    Takase, Kojiro


    Rapid excessive alcohol drinking frequently causes disturbance of consciousness due to head trauma, brain edema, hypoglycemia, hyponatremia, hepatic coma and so on, provoked by acute alcohol intoxication. Rapid differential diagnosis and management are extremely important to save a life. On the other hands, the chronic users of alcohol so called alcoholism has many kinds of physical diseases such as liver diseases (i.e., fatty liver, alcoholic hepatitis, alcoholic liver cirrhosis and miscellaneous liver disease), diabetes mellitus, injury to happen in drunkenness, pancreas disease (i.e., acute and chronic pancreatitis and deterioration of chronic pancreatitis), gastrontestinal diseases (i.e., gastroduodenal ulcer), and so on. Enough attention should be paid to above mentioned diseases, otherwise they would turn worse more with continuation and increase in quantity of the alcohol. It should be born in its mind that the excessive drinking becomes the weapon threatening life.

  1. Hereditary neuromuscular diseases

    Energy Technology Data Exchange (ETDEWEB)

    Oezsarlak, O. E-mail:; Schepens, E.; Parizel, P.M.; Goethem, J.W. van; Vanhoenacker, F.; Schepper, A.M. de; Martin, J.J


    This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments. It summarizes the genetic and clinical presentations of each disorder together with CT findings, which we studied in a large group of patients with neuromuscular diseases. The muscular dystrophies as the largest and most common group of hereditary muscle diseases will be highlighted by giving detailed information about the role of CT and MRI in the differential diagnosis. The radiological features of neuromuscular diseases are atrophy, hypertrophy, pseudohypertrophy and fatty infiltration of muscles on a selective basis. Although the patterns and distribution of involvement are characteristic in some of the diseases, the definition of the type of disease based on CT scan only is not always possible.

  2. Castleman disease (literature review

    Directory of Open Access Journals (Sweden)

    A. L. Melikyan


    Full Text Available Castleman disease (angiofollicular hyperplasia of lymph nodes – a rare benign lymphoproliferative disease with prolonged asymptomatic course, associated with a wide variety of autoimmune and oncological diseases and the risk of non-Hodgkin’s lymphoma. The rare occurrence of this disease and a variety of clinical course did not allow for a complete and consistent research on the etiology and pathogenesis and the standard therapies development. In recent years, the number of patients with Castleman disease in the Russian Federation has increased, which requires its recognition among non-neoplastic and neoplastic lymphadenopathy. The article provides an overview about clinical and histological variants of Castleman’s disease, its pathogenesis concepts, classification and treatment.

  3. Spectrum of cardiorenal disease

    Institute of Scientific and Technical Information of China (English)

    Peter A. McCullough


    @@ Cardiorenal disease The modern day,worldwide epidemics of obesity and hypertension (HTN) are central drivers of a secondary epidemic of type 2 diabetes with combined chronic kidney disease (CKD)and cardiovascular disease (CVD).1 Approximately half of those with diabetes will develop CKD.2 Conversely,half of all cases of end-stage renal disease (ESRD) are due to diabetic nephropathy.With the aging of the general population and cardiovascular care shifting towards the elderly,an understanding of why decreasing levels of renal function act as a major adverse prognostic factor after a variety of cardiac events is imperative.The heart and kidney are inextricably linked via hemodynamic and neurohumoral function (Fig.1).Considerable evidence shows that CKD accelerates atherosclerosis,myocardial disease,valvular disease,and promotes an array of cardiac arrhythmias.3

  4. Dynamics of interacting diseases

    CERN Document Server

    Sanz, Joaquín; Meloni, Sandro; Moreno, Yamir


    Current modeling of infectious diseases allows for the study of complex and realistic scenarios that go from the population to the individual level of description. Most epidemic models however assume that the spreading process takes place on a single level (be it a single population, a meta-population system or a network of contacts). The latter is in part a consequence of our still limited knowledge about the interdependency of the many mechanisms and factors involved in disease spreading. In particular, interdependent contagion phenomena can only be addressed if we go beyond the scheme one pathogen-one network. In this paper, we study a model that allows describing the spreading dynamics of two concurrent diseases and apply it to a paradigmatic case of disease-disease interaction: the interaction between AIDS and Tuberculosis. Specifically, we characterize analytically the epidemic thresholds of the two diseases for different scenarios and also compute the temporal evolution characterizing the unfolding dyn...

  5. Wetlands and infectious diseases


    Robert H. Zimmerman


    There is a historical association between wetlands and infectious disease that has led to the modification of wetlands to prevent disease. At the same time there has been the development of water resources projects that increase the risk of disease. The demand for more water development projects and the increased pressure to make natural wetlands economically beneficial creates the need for an ecological approach to wetland management and health assessment. The environmental and health intera...

  6. CDC Disease Detective Camp

    Centers for Disease Control (CDC) Podcasts


    The CDC Disease Detective Camp gives rising high school juniors and seniors exposure to key aspects of the CDC, including basic epidemiology, infectious and chronic disease tracking, public health law, and outbreak investigations. The camp also helps students explore careers in public health.  Created: 8/2/2010 by Centers for Disease Control and Prevention (CDC).   Date Released: 8/2/2010.

  7. Disease Management Update



    The rapid expansion of disease management continues. A multitude of stakeholders and marketplaces are now involved in providing cost-effective quality healthcare for individuals and populations. To help you keep up to date with the very latest developments in disease management, this section of the journal brings you information selected from the disease management and pharmacoeconomic reporting servicePharmacoeconomics & Outcomes News. The following reports are selected from the very latest ...

  8. Disease Management Update



    The rapid expansion of disease management continues. A multitude of stakeholders and marketplaces are now involved in providing cost-effective quality healthcare for individuals and populations. To help you keep up to date with the very latest developments in disease management, this section of the journal brings you information selected from the disease management and pharmacoeconomic reporting service Pharmacoeconomics & Outcomes News. The following reports are selected from the very latest...

  9. Disease Management Update



    The rapid expansion of disease management continues. A multitude of stakeholders and marketplaces are now involved in providing cost-effective quality healthcare for individuals and populations. To help you keep up to date with the very latest developments in disease management, this section of the journal brings you information selected from the disease management and pharmacoeconomic reporting service Pharmacoeconomics & Outcomes News. The following reports are selected from the very latest...

  10. Disease Management Update



    The rapid expansion of disease management continues. A multitude of stakeholders and marketplaces are now involved in providing cost effective quality healthcare for individuals and populations. To help you keep up-to-date with the very latest developments in disease management, this section of the journal brings you information selected from the disease management and pharmacoeconomic reporting service Pharmacoeconomics & Outcomes News . The following reports are selected from the very lates...

  11. Disease Management Update



    The rapid expansion of disease management continues. A multitude of stakeholders and marketplaces are now involved in providing cost-effective quality healthcare for individuals and populations. To help you keep up-to-date with the very latest developments in disease management, this section of the journal brings you information selected from the disease management and pharmacoeconomic reporting service PharmacoEconomics & Outcomes News Weekly. The following reports are selected from the very...

  12. Disease Management Update



    The rapid expansion of disease management continues. A multitude of stakeholders and marketplaces are now involved in providing cost-effective quality healthcare for individuals and populations. To help you keep up-to-date with the very latest developments in disease management, this section of the journal brings you information selected from the disease management and pharmacoeconomic reporting service Pharmacoeconomics & Outcomes News Weekly . The following reports are selected from the ver...

  13. NAFLD: A multisystem disease


    Byrne, Christopher D.; Targher, Giovanni


    Non-alcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in Western countries that is predicted to become also the most frequent indication for liver transplantation by 2030. Over the last decade, it has been shown that the clinical burden of NAFLD is not only confined to liver-related morbidity and mortality, but there is now growing evidence that NAFLD is a multisystem disease, affecting extra-hepatic organs and regulatory pathways. For example, NAFLD incr...

  14. Neuroinflammation in Alzheimer's disease

    DEFF Research Database (Denmark)

    Heneka, Michael T; Carson, Monica J; Khoury, Joseph El


    Increasing evidence suggests that Alzheimer's disease pathogenesis is not restricted to the neuronal compartment, but includes strong interactions with immunological mechanisms in the brain. Misfolded and aggregated proteins bind to pattern recognition receptors on microglia and astroglia......, and trigger an innate immune response characterised by release of inflammatory mediators, which contribute to disease progression and severity. Genome-wide analysis suggests that several genes that increase the risk for sporadic Alzheimer's disease encode factors that regulate glial clearance of misfolded...... therapeutic or preventive strategies for Alzheimer's disease....

  15. Ageing and neurodegenerative diseases. (United States)

    Hung, Chia-Wei; Chen, Yu-Chih; Hsieh, Wan-Ling; Chiou, Shih-Hwa; Kao, Chung-Lan


    Ageing, which all creatures must encounter, is a challenge to every living organism. In the human body, it is estimated that cell division and metabolism occurs exuberantly until about 25 years of age. Beyond this age, subsidiary products of metabolism and cell damage accumulate, and the phenotypes of ageing appear, causing disease formation. Among these age-related diseases, neurodegenerative diseases have drawn a lot of attention due to their irreversibility, lack of effective treatment, and accompanied social and economical burdens. In seeking to ameliorate ageing and age-related diseases, the search for anti-ageing drugs has been of much interest. Numerous studies have shown that the plant polyphenol, resveratrol (3,5,4'-trihydroxystilbene), extends the lifespan of several species, prevents age-related diseases, and possesses anti-inflammatory, and anti-cancer properties. The beneficial effects of resveratrol are believed to be associated with the activation of a longevity gene, SirT1. In this review, we discuss the pathogenesis of age-related neurodegenerative diseases including Alzheimer's disease, Parkinson's disease and cerebrovascular disease. The therapeutic potential of resveratrol, diet and the roles of stem cell therapy are discussed to provide a better understanding of the ageing mystery.

  16. Creutzfeldt-Jakob Disease (United States)

    ... Disease (PDF) What Is Dementia? Alzheimer's and Dementia Caregiver Center Alzheimer's Association Research Traumatic Brain Injury and Chronic Traumatic Encephalopathy (CTE) Awardees Year Researcher ...

  17. [Pregnancy in Gaucher disease]. (United States)

    Boufettal, H; Quessar, A; Jeddaoui, Z; Mahdoui, S; Noun, M; Hermas, S; Samouh, N


    Gaucher disease is a lysosomal storage disorder due to deficiency of glucocerebrosidase. The association with pregnancy exposes the worsening of the disease and complications of pregnancy and puerperium. We report a case of pregnancy in a woman of 35 years, suffering from Gaucher disease type 1. Pregnancy had a favorable outcome. Complications occurred. They were kept under control. The outcome was favorable. The authors discuss the evolution of the disease during pregnancy and management of complications. They can occur during pregnancy, post-partum and breastfeeding. Support begins with preconception consultation. It involves finding and correcting the biological problems and deficiencies, and management of complications. Genetic counseling is important, it helps prevent inbreeding.

  18. Emerging zoonotic viral diseases. (United States)

    Wang, L-F; Crameri, G


    Zoonotic diseases are infectious diseases that are naturally transmitted from vertebrate animals to humans and vice versa. They are caused by all types of pathogenic agents, including bacteria, parasites, fungi, viruses and prions. Although they have been recognised for many centuries, their impact on public health has increased in the last few decades due to a combination of the success in reducing the spread of human infectious diseases through vaccination and effective therapies and the emergence of novel zoonotic diseases. It is being increasingly recognised that a One Health approach at the human-animal-ecosystem interface is needed for effective investigation, prevention and control of any emerging zoonotic disease. Here, the authors will review the drivers for emergence, highlight some of the high-impact emerging zoonotic diseases of the last two decades and provide examples of novel One Health approaches for disease investigation, prevention and control. Although this review focuses on emerging zoonotic viral diseases, the authors consider that the discussions presented in this paper will be equally applicable to emerging zoonotic diseases of other pathogen types.

  19. Epigenetics in neonatal diseases

    Institute of Scientific and Technical Information of China (English)

    XU Xue-feng; DU Li-zhong


    Objective To review the role of epigenetic regulation in neonatal diseases and better understand Barker's "fetal origins of adult disease hypothesis".Data sources The data cited in this review were mainly obtained from the articles published in Medline/PubMed between January 1953 and December 2009.Study selection Articles associated with epigenetics and neonatal diseases were selected.Results There is a wealth of epidemiological evidence that lower birth weight is strongly correlated with an increased risk of adult diseases, such as type 2 diabetes mellitus, hypertension, and cardiovascular disease. This phenomenon of fetal origins of adult disease is strongly associated with fetal insults to epigenetic modifications of genes. A potential role of epigenetic modifications in congenital disorders, transient neonatal diabetes mellitus (TNDM), intrauterine growth retardation (IUGR), and persistent pulmonary hypertension of the newborn (PPHN) have been studied.Conclusions Acknowledgment of the role of these epigenetic modifications in neonatal diseases would be conducive to better understanding the pathogenesis of these diseases, and provide new insight for improved treatment and prevention of later adult diseases.

  20. Inhaled dust and disease

    Energy Technology Data Exchange (ETDEWEB)

    Holt, P.F.


    This book discusses the following: the respiratory system; respirable dust; the fate of inhaled dust; translocation and some general effects of inhaled dust; silicosis; experimental research on silica-related disease; natural fibrous silicates; asbestos dust levels and dust sources; asbestos-related diseases - asbestosis, lung cancer, mesothelioma and other diseases, cancers at sites other than lung and pleura; experimental research relating to asbestos-related diseases; asbestos hazard - mineral types and hazardous occupations, neighbourhood and domestic hazard; silicates other than asbestos-man-made mineral fibres, mineral silicates and cement; metals; coal mine dust, industrial carbon and arsenic; natural and synthetic organic substances; dusts that provoke allergic alveolitis; tobacco smoke.

  1. History of Kawasaki disease. (United States)

    Kawasaki, Tomisaku; Naoe, Shiro


    We describe a short history of Kawasaki disease. In 1967, we published a paper entitled 'Infantile acute febrile mucocutaneous lymph node syndrome with specific desquamation of the fingers and toes. Clinical observation of 50 cases'; this was the first report on what is now called Kawasaki disease. Since then, many reports on cardiology, treatment, epidemiology, pathology and etiology of Kawasaki disease have been published. Furthermore, a recent Chapel Hill Consensus Statement on Kawasaki disease in the classification of vasculitis is given, along with a figure on the relationship and classification of childhood vasculitis by autopsy material.

  2. Falls in Parkinson's disease and Huntington's disease

    NARCIS (Netherlands)

    Grimbergen, Yvette Anna Maria


    Falls in Parkinson’s (PD) and Huntington’s disease (HD) are common. 50 % of moderately affected PD patients sustained two or more falls during a prospective follow-up of 6 months. During a 3 month period 40 % of HD patients reported one or more fall. Many falls resulted in minor injuries and 42 % of

  3. Ischaemic heart disease

    DEFF Research Database (Denmark)

    Hansen, Louise Houlberg; Mikkelsen, Søren


    Purpose. Correct prehospital diagnosis of ischaemic heart disease (IHD) may accelerate and improve the treatment. We sought to evaluate the accuracy of prehospital diagnoses of ischemic heart diseases assigned by physicians. Methods. The Mobile Emergency Care Unit (MECU) in Odense, Denmark...

  4. Heart Disease and Stroke

    Centers for Disease Control (CDC) Podcasts


    In this podcast, Dr. Tom Frieden, CDC Director, discusses the number one killer in the United States - heart disease and stroke.  Created: 9/3/2013 by National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP).   Date Released: 3/6/2014.

  5. Management of Crohn's disease. (United States)

    Kammermeier, Jochen; Morris, Mary-Anne; Garrick, Vikki; Furman, Mark; Rodrigues, Astor; Russell, Richard K


    Crohn's disease (CD) is rapidly increasing in children so an up to date knowledge of diagnosis, investigation and management is essential. Exclusive enteral nutrition is the first line treatment for active disease. The vast majority of children will need immunosuppressant treatment and around 20% will need treatment with biologics. Recent guidelines have helped make best use of available therapies.

  6. Women and Heart Disease

    Institute of Scientific and Technical Information of China (English)



    Heart disease is the leading killer of Americans. But it kills more women than men. The American Heart Association says heart disease and other cardiovascular (心血管的) disorders kill about five hundred thousand women a year. That is more than the next seven causes of death combined.

  7. Management of diverticular disease. (United States)

    Pfützer, Roland H; Kruis, Wolfgang


    Diverticular disease is a common condition in Western countries and the incidence and prevalence of the disease is increasing. The pathogenetic factors involved include structural changes in the gut that increase with age, a diet low in fibre and rich in meat, changes in intestinal motility, the concept of enteric neuropathy and an underlying genetic background. Current treatment strategies are hampered by insufficient options to stratify patients according to individual risk. One of the main reasons is the lack of an all-encompassing classification system of diverticular disease. In response, the German Society for Gastroenterology and Digestive Diseases (DGVS) has proposed a classification system as part of its new guideline for the diagnosis and management of diverticular disease. The classification system includes five main types of disease: asymptomatic diverticulosis, acute uncomplicated and complicated diverticulitis, as well as chronic diverticular disease and diverticular bleeding. Here, we review prevention and treatment strategies stratified by these five main types of disease, from prevention of the first attack of diverticulitis to the management of chronic complications and diverticular bleeding.

  8. Liver disease in pregnancy

    Institute of Scientific and Technical Information of China (English)

    Noel M Lee; Carla W Brady


    Liver diseases in pregnancy may be categorized into liver disorders that occur only in the setting of pregnancy and liver diseases that occur coincidentally with pregnancy. Hyperemesis gravidarum, preeclampsia/eclampsia, syndrome of hemolysis, elevated liver tests and low platelets (HELLP), acute fatty liver of pregnancy, and intrahepatic cholestasis of pregnancy are pregnancy-specific disorders that may cause elevations in liver tests and hepatic dysfunction. Chronic liver diseases, including cholestatic liver disease, autoimmune hepatitis, Wilson disease, and viral hepatitis may also be seen in pregnancy. Management of liver disease in pregnancy requires collaboration between obstetricians and gastroenterologists/hepatologists. Treatment of pregnancy-specific liver disorders usually involves delivery of the fetus and supportive care, whereas management of chronic liver disease in pregnancy is directed toward optimizing control of the liver disorder. Cirrhosis in the setting of pregnancy is less commonly observed but offers unique challenges for patients and practitioners. This article reviews the epidemiology, pathophysiology, diagnosis, and management of liver diseases seen in pregnancy.

  9. [Infectious diseases research]. (United States)

    Carratalà, Jordi; Alcamí, José; Cordero, Elisa; Miró, José M; Ramos, José Manuel


    There has been a significant increase in research activity into infectious diseases in Spain in the last few years. The Spanish Society of Infectious Diseases and Clinical Microbiology (SEIMC) currently has ten study groups, with the cooperation of infectious diseases specialists and microbiologists from different centres, with significant research activity. The program of Redes Temáticas de Investigación Cooperativa en Salud (Special Topics Cooperative Health Research Networks) is an appropriate framework for the strategic coordination of research groups from the Spanish autonomous communities. The Spanish Network for Research in Infectious Diseases (REIPI) and the Network for Research in AIDS (RIS) integrate investigators in Infectious Diseases from multiple groups, which continuously perform important research projects. Research using different experimental models in infectious diseases, in numerous institutions, is an important activity in our country. The analysis of the recent scientific production in Infectious Diseases shows that Spain has a good position in the context of the European Union. The research activity in Infectious Diseases carried out in our country is a great opportunity for the training of specialists in this area of knowledge.

  10. A rare tonsillar disease

    Directory of Open Access Journals (Sweden)

    Safavi Naiyni SA


    Full Text Available A 16 year old woman with Tangier disease in palatine tonsils is reported. She has recurrent sore throat. In physical examination the palatine tonsils are hypertrophied and has very yellowish points. The facial skin is yellowish but the skin of another areas of body is normal. After tonsillectomy the pathologist report Tangier disease in palatine tonsils

  11. Paget’s disease

    Directory of Open Access Journals (Sweden)

    I. Bertoldi


    Full Text Available Paget’s disease of bone is the most common metabolic bone disease after osteoporosis and affects 2-4% of adults over 55 years of age. Its etiology is only partly understood and includes both genetic and environmental factors. The disease may be asymptomatic and can be uncovered incidentally on x-ray or in biochemical tests performed for another condition. It can also manifest itself with bone pain, deformity, fracture or other complications. Paget’s disease is diagnosed by x-rays and in general has very typical radiological features, but occasionally the clinical picture may be unusual and a differential diagnosis of sclerotic or lytic metastases needs to be considered. Plasma total alkaline phosphatase activity is the most clinically useful indicator of disease activity. It is elevated in most untreated patients, but may be within the normal range in patients with monostotic or limited disease. Bisphosphonate therapy is indicated for patients with symptoms and should also be considered in patients with disease sites that suggest a risk of complications, such as long bones, vertebrae or base of the skull. Orthopedic surgery in Paget’s disease patients includes almost exclusively the correction of fractures and arthroplasty.

  12. Oxysterols and Parkinson's disease

    DEFF Research Database (Denmark)

    Björkhem, Ingemar; Lövgren-Sandblom, Anita; Leoni, Valerio


    Oxysterols are important for cholesterol homeostasis in the brain and may be affected in neurodegenerative diseases. The levels of the brain-derived oxysterol 24S-hydroxycholesterol (24S-OH) have been reported to be markedly reduced in the circulation of patients with Parkinson's disease (PD) (Lee...


    Naik, Haley B.; Cowen, Edward W.


    SYNOPSIS The inflammatory pustular dermatoses constitute a spectrum of non-infectious conditions ranging from localized involvement to generalized disease with associated acute systemic inflammation and multi-organ involvement. Despite the variability in extent and severity of cutaneous presentation, each of these diseases is characterized by non-infectious neutrophilic intra-epidermal microabscesses. Many share systemic findings including fever, elevated inflammatory markers, inflammatory bowel disease and/or osteoarticular involvement, suggesting potential common pathogenic links (Figure 1). The recent discoveries of several genes responsible for heritable pustular diseases have revealed a distinct link between pustular skin disease and regulation of innate immunity. These genetic advances have led to a deeper exploration of common pathways in pustular skin disease and offer the potential for a new era of biologic therapy which targets these shared pathways. This chapter provides a new categorization of inflammatory pustular dermatoses in the context of recent genetic and biologic insights. We will discuss recently-described monogenic diseases with pustular phenotypes, including deficiency of IL-1 receptor antagonist (DIRA), deficiency of the IL-36 receptor antagonist (DITRA), CARD14-associated pustular psoriasis (CAMPS), and pyogenic arthritis, pyoderma gangrenosum, acne (PAPA). We will then discuss how these new genetic advancements may inform how we view previously described pustular diseases, including pustular psoriasis and its clinical variants, with a focus on historical classification by clinical phenotype. PMID:23827244

  14. Psoriasis, a Systemic Disease?

    Directory of Open Access Journals (Sweden)

    Nilgün Atakan


    Full Text Available Psoriasis is a chronic inflammatory disease which is characterized by plaques with shiny white desquamation on the skin. It affects 1 to 3% of different ethnic populations. The disease significantly lowers the quality of life for the patients as the lesions appear on visible regions such as the scalp, face and extremities causing pruritus and extensive use of topical agents with a poor rate of recovery and the disease has a recurrent course with frequent attacks. Psoriasis was previously assumed to be a cutaneous disease resulting from epidermal cell hyperproliferation for a long time. However, studies conducted on the etiopathogenesis of the disease revealed that psoriasis is a chronic autoinflammatory disease which is caused by immune system dysregulation. Recently, the frequent association of psoriasis with other autoinflammatory diseases, comorbidities and complications which indeed shorten life expectancy concluded that psoriasis is a systemic disease and created a major difference in its treatment and follow-up modalities. In this review, the comorbidities, which are shown to be related to systemic inflammation and which also share a common pathogenesis with psoriasis, will be discussed. (Turk J Dermatol 2012; 6: 119-22

  15. Dysphagia in Huntington's disease

    NARCIS (Netherlands)

    Heemskerk-van den Berg, Willemien Antoinette


    Huntington’s disease (HD) is a progressive neurodegenerative disease with an autosomal, dominant mode of inheritance. Patients with HD suffer from dysphagia which can have serious consequences, such as weight loss, dehydration, and pneumonia leading to death. Many patients with HD die of aspiration

  16. Bistability in autoimmune diseases

    DEFF Research Database (Denmark)

    Rapin, Nicolas; Mosekilde, Erik; Lund, Ole


    Autoimmune diseases damage host tissue, which, in turn, may trigger a stronger immune response. Systems characterized by such positive feedback loops can display co-existing stable steady states. In a mathematical model of autoimmune disease, one steady state may correspond to the healthy state...

  17. Pellagra complicating Crohn's disease.


    Zaki, I.; Millard, L


    We report a 53-year-old patient with clinical features of pellagra as a complication of Crohn's disease. His symptoms improved rapidly on taking oral nicotinic acid and vitamin B complex. We suggest the paucity of reported cases of pellagra in Crohn's disease is a reflection of poor recognition of this complication.

  18. Tick-Borne Diseases (United States)

    ... Health Topics Tick-Borne Disease Hazards to Outdoor Workers Physical Hazards Heat Stress Cold Stress Sun Exposure Noise Biological Hazards Insects ... No Longer Available Lyme Disease Hazards to Outdoor Workers Physical Hazards Heat Stress Cold Stress Sun Exposure Noise Biological Hazards Insects ...

  19. Respiratory Diseases of Poultry (United States)

    A new Respiratory Diseases of Poultry CRIS will be established effective October 1, 2006. Initially, the disease agents to be studied will include Ornithobacterium rhinotracheale (ORT), Bordetella avium (BART) and Pasteurella multocida. The research will focus on development of more effective vacc...

  20. [Hypertension and renal disease

    DEFF Research Database (Denmark)

    Kamper, A.L.; Pedersen, E.B.; Strandgaard, S.


    hypertension. Mild degrees of chronic kidney disease (CKD) can be detected in around 10% of the population, and detection is important as CKD is an important risk factor for atherosclerotic cardiovascular disease. Conversely, heart failure may cause an impairment of renal function. In chronic progressive...

  1. Chronic Kidney Disease (United States)

    ... of the feet and ankles Causes & Risk FactorsWhat causes CKD?The most common causes of CKD are high blood pressure, diabetes and heart disease. ... caused by CKD.How else is CKD treated?Chronic kidney disease can cause other problems. Talk with your doctor about how ...

  2. Plant Diseases & Chemicals


    Thompson, Sherm


    This course discusses the use of chemicals for plant disease control. Specifically, pesticides that can be used both in commercial or home/yard sitautions. This course also teaches how to determine plant diseases that may have caused a plant to die.

  3. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... How Does Depression Affect the Patient's Family and Social Network? How Does Parkinson's Disease Affect Memory? How Does Parkinson's Disease Affect the Urinary System? How Does Speech Therapy Help Parkinson's ... our Helpline: 1-800-4PD-INFO (473-4636) Staffed by nurses, social workers and therapists, our Helpline is here to ...

  4. Falls in Parkinson's disease.

    NARCIS (Netherlands)

    Grimbergen, Y.A.M.; Munneke, M.; Bloem, B.R.


    PURPOSE OF REVIEW: To summarize the latest insights into the clinical significance, assessment, pathophysiology and treatment of falls in Parkinson's disease. RECENT FINDINGS: Recent studies have shown that falls are common in Parkinson's disease, even when compared with other fall-prone populations

  5. Autoimmune liver diseases

    Institute of Scientific and Technical Information of China (English)

    Pietro Invernizzi; Ian R Mackay


    The liver was one of the earliest recognized sites among autoimmune diseases yet autoimmune hepatitis,primary biliary cirrhosis,primary sclerosing cholangitis,and their overlap forms,are still problematic in diagnosis and causation.The contributions herein comprise 'pairs of articles' on clinical characteristics,and concepts of etiopathogenesis,for each of the above diseases,together with childhood autoimmune liver disease,overlaps,interpretations of diagnostic serology,and liver transplantation.This issue is timely,since we are witnessing an ever increasing applicability of immunology to a wide variety of chronic diseases,hepatic and non-hepatic,in both developed and developing countries.The 11 invited expert review articles capture the changing features over recent years of the autoimmune liver diseases,the underlying immunomolecular mechanisms of development,the potent albeit still unexplained genetic influences,the expanding repertoire of immunoserological diagnostic markers,and the increasingly effective therapeutic possibilities.

  6. Celiac disease: clinical observations

    Directory of Open Access Journals (Sweden)

    Yu. A. Emel’yanova


    Full Text Available Presented clinical cases of patients with a diagnosis of gluten enteropathy in treatment in the department of gastroenterology Regional Clinical Hospital. The case is of interest to doctors of different specialties for the differential diagnosis of anemia and malabsorption syndrome, demonstrate both the classic version, and atypical forms of the disease course. Diagnosis of celiac disease is based on three key positions: clinical findings, histology and serological markers. The clinical picture of celiac disease is characterized by pronounced polymorphism, by going beyond the a gastroenterological pathology. For screening of gluten sensitive celiac typically used an antibody to tissue transglutaminase. Morphological research of the mucous membrane of the small intestine is the determining criterion in the diagnosis of celiac disease. The use of specific gluten-free diet leads to the positive dynamics of the disease and improve the quality of life of patients.

  7. Hyperosmia in Lyme disease

    Directory of Open Access Journals (Sweden)

    Basant K. Puri


    Full Text Available Neurological involvement in Lyme disease has been reported to include meningitis, cranial neuropathy and radiculoneuritis. While it is known that in some cases of asceptic meningitis patients may develop hyperosmia, the association between hyperosmia and Lyme disease has not previously been studied. Objective To carry out the first systematic study to ascertain whether hyperosmia is also a feature of Lyme disease. Method A questionnaire regarding abnormal sensory sensitivity in respect of the sense of smell was administered to 16 serologically positive Lyme disease patients and to 18 control subjects. Results The two groups were matched in respect of age, sex and body mass. None of the 34 subjects was suffering from migraine. Eight (50% of the Lyme patients and none (0% of the controls suffered from hyperosmia (p=0.0007. Conclusion This first systematic controlled study showed that Lyme disease is associated with hyperosmia.

  8. Autophagy in Inflammatory Diseases

    Directory of Open Access Journals (Sweden)

    Alexander J. S. Choi


    Full Text Available Autophagy provides a mechanism for the turnover of cellular organelles and proteins through a lysosome-dependent degradation pathway. During starvation, autophagy exerts a homeostatic function that promotes cell survival by recycling metabolic precursors. Additionally, autophagy can interact with other vital processes such as programmed cell death, inflammation, and adaptive immune mechanisms, and thereby potentially influence disease pathogenesis. Macrophages deficient in autophagic proteins display enhanced caspase-1-dependent proinflammatory cytokine production and the activation of the inflammasome. Autophagy provides a functional role in infectious diseases and sepsis by promoting intracellular bacterial clearance. Mutations in autophagy-related genes, leading to loss of autophagic function, have been implicated in the pathogenesis of Crohn's disease. Furthermore, autophagy-dependent mechanisms have been proposed in the pathogenesis of several pulmonary diseases that involve inflammation, including cystic fibrosis and pulmonary hypertension. Strategies aimed at modulating autophagy may lead to therapeutic interventions for diseases associated with inflammation.

  9. Headache in autoimmune diseases. (United States)

    John, Seby; Hajj-Ali, Rula A


    Autoimmune diseases are a group of heterogeneous inflammatory disorders characterized by systemic or localized inflammation, leading to ischemia and tissue destruction. These include disorders like systemic lupus erythematosus and related diseases, systemic vasculitides, and central nervous system (CNS) vasculitis (primary or secondary). Headache is a very common manifestation of CNS involvement of these diseases. Although headache characteristics can be unspecific and often non-diagnostic, it is important to recognize because headache can be the first manifestation of CNS involvement. Prompt recognition and treatment is necessary not only to treat the headache, but also to help prevent serious neurological sequelae that frequently accompany autoimmune diseases. In this review, we discuss headache associated with autoimmune diseases along with important mimics.

  10. Biomarkers in Airway Diseases

    Directory of Open Access Journals (Sweden)

    Janice M Leung


    Full Text Available The inherent limitations of spirometry and clinical history have prompted clinicians and scientists to search for surrogate markers of airway diseases. Although few biomarkers have been widely accepted into the clinical armamentarium, the authors explore three sources of biomarkers that have shown promise as indicators of disease severity and treatment response. In asthma, exhaled nitric oxide measurements can predict steroid responsiveness and sputum eosinophil counts have been used to titrate anti-inflammatory therapies. In chronic obstructive pulmonary disease, inflammatory plasma biomarkers, such as fibrinogen, club cell secretory protein-16 and surfactant protein D, can denote greater severity and predict the risk of exacerbations. While the multitude of disease phenotypes in respiratory medicine make biomarker development especially challenging, these three may soon play key roles in the diagnosis and management of airway diseases.

  11. Hyperparathyroidism of Renal Disease (United States)

    Yuen, Noah K; Ananthakrishnan, Shubha; Campbell, Michael J


    Renal hyperparathyroidism (rHPT) is a common complication of chronic kidney disease characterized by elevated parathyroid hormone levels secondary to derangements in the homeostasis of calcium, phosphate, and vitamin D. Patients with rHPT experience increased rates of cardiovascular problems and bone disease. The Kidney Disease: Improving Global Outcomes guidelines recommend that screening and management of rHPT be initiated for all patients with chronic kidney disease stage 3 (estimated glomerular filtration rate, < 60 mL/min/1.73 m2). Since the 1990s, improving medical management with vitamin D analogs, phosphate binders, and calcimimetic drugs has expanded the treatment options for patients with rHPT, but some patients still require a parathyroidectomy to mitigate the sequelae of this challenging disease. PMID:27479950

  12. Disease: H00424 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00424 Defects in the degradation of sphingomyelin, including: Niemann-Pick disease...elin is a group of autosomal recessive lysosomal storage diseases including Niemann-Pick disease (NPD), type...brane turnover. Inherited metabolic disease; Lysosomal storage disease; Nervous system disease hsa00600(6609...ressive visceral organ abnormalities, including hepatosplenomegaly and cardiovascular disease. The different...mith EL, Schuchman EH The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common disea

  13. Achalasia and thyroid disease

    Institute of Scientific and Technical Information of China (English)

    Mohammad Hassan Emami; Mostafa Raisi; Jaleh Amini; Hamed Daghaghzadeh


    AIM: To investigate some possible etiologies of achalasia by screening patients with achalasia for some autoimmune diseases such as thyroid disease.METHODS: We examined 30 known cases of achalasia (20 females, 10 males). Their age ranged 15-70 years.All of them were referred to our institute for treatment.Their sera were evaluated to detect some possible associations with rheumatoid disease, thyroid disease,inflammatory process, anemia, etc.RESULTS: Seven out of 30 patients (23%) had thyroid disease including four patients with hypothyroidism (13.3%), two patients with hyperthyroidism (6.6%),and one had only thyroid nodule but was in euthyroid state (3.3%). Two of these hypothyroid patients had no related clinical symptoms (subclinical) and two had clinical manifestations of hypothyroidism. There were no correlations between the intensity of thyroid diseases and the severity of achalasia symptoms.CONCLUSION: The etiology of achalasia is unknown although autoimmunity has been implicated and is supported by several studies. Thyroid disease presents concomitantly with achalasia in about one fourth of our patients who may have a common etiology.

  14. Domoic Acid Epileptic Disease

    Directory of Open Access Journals (Sweden)

    John S. Ramsdell


    Full Text Available Domoic acid epileptic disease is characterized by spontaneous recurrent seizures weeks to months after domoic acid exposure. The potential for this disease was first recognized in a human case study of temporal lobe epilepsy after the 1987 amnesic shellfish-poisoning event in Quebec, and was characterized as a chronic epileptic syndrome in California sea lions through investigation of a series of domoic acid poisoning cases between 1998 and 2006. The sea lion study provided a breadth of insight into clinical presentations, unusual behaviors, brain pathology, and epidemiology. A rat model that replicates key observations of the chronic epileptic syndrome in sea lions has been applied to identify the progression of the epileptic disease state, its relationship to behavioral manifestations, and to define the neural systems involved in these behavioral disorders. Here, we present the concept of domoic acid epileptic disease as a delayed manifestation of domoic acid poisoning and review the state of knowledge for this disease state in affected humans and sea lions. We discuss causative mechanisms and neural underpinnings of disease maturation revealed by the rat model to present the concept for olfactory origin of an epileptic disease; triggered in dendodendritic synapases of the olfactory bulb and maturing in the olfactory cortex. We conclude with updated information on populations at risk, medical diagnosis, treatment, and prognosis.

  15. Osteoporosis in Parkinson's disease. (United States)

    Invernizzi, Marco; Carda, Stefano; Viscontini, Giovanni Sguazzini; Cisari, Carlo


    Patients affected by Parkinson's disease are at a high risk for fractures, mainly of the hip. These fractures are caused by falls due to postural imbalance, neurological impairment and reduced bone mass. The purpose of this study was (1) to investigate the correlations and the pathophysiological mechanisms underlying bone loss in Parkinson's disease and appraise bone loss or fracture risk reduction interventions; (2) to develop a research agenda that informs the design and development of risk reduction strategies. Osteoporosis and osteopenia are very common findings in patients with Parkinson's disease, affecting up to 91% of women and 61% of men. Reduced bone mass in Parkinsonian patients seems to be caused mainly by reduced mobility through a mechanism similar to that observed in other neurological diseases. Endocrine (such as vitamin D deficiency), nutritional and iatrogenic factors also play an important role in bone mass depletion. Female gender, disease duration and severity (Hoehn and Yahr stages III and IV), old age and low body mass index are related to more severe osteoporosis. Vitamin D supplementation and bisphosphonates seem to be effective in reducing the risk of nonvertebral fractures in patients affected by Parkinson's disease. Prevention and evaluation of osteoporosis through bone mass density assessment should be considered in all patients with Parkinson's disease.

  16. Adventures in Infectious Diseases

    Energy Technology Data Exchange (ETDEWEB)

    Fisher-Hoch, Susan [University of Texas School of Public Health


    Dr. Susan Fisher-Hoch, Virologist and Epidemiologist, will discuss her research and travels associated with viral hemorrhagic fevers. From the Ebola outbreak in Reston, Virginia to outbreaks of Crimean Congo Hemorrhagic Fever in South Africa, Senegal, and Saudi Arabia, Dr. Fisher-Hoch has studied and tracked the pathophysiology of these viral diseases. These studies have led her from the Center for Disease Control in the United States, to Lyon, France where she was instrumental in designing, constructing, and rendering operational a laboratory capable of containing some of the world's most dangerous diseases.

  17. Creutzfeldt-Jakob disease

    Directory of Open Access Journals (Sweden)

    LIU Jian-rong


    Full Text Available Creutzfeldt-Jakob disease (CJD is a degenerative central nervous system (CNS disease caused by infection of prion protein (PrP, with clinical features including short course, rapid development and 100% mortality. This article aims to discuss the pathogenesis, histopathological features, clinical manifestations, electroencephalogram (EEG findings, imaging data and treatment progress of this disease based on literature review. Cerebrospinal fluid 14-3-3 protein detection, EEG and MRI are three important methods to make an early diagnosis on patients with suspected CJD, such as elderly patients with rapidly progressive dementia (RPD and young patients with mental symptoms involving multiple systems (MS.

  18. Gaucher′s disease

    Directory of Open Access Journals (Sweden)

    Vijay Bohra


    Full Text Available Gaucher′s disease (GD is the most common amongst the various disorders classified under the lysosomal storage disorders. GD is a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. The multiorgan and varied presentation of the disease makes it a challenge to diagnose GD early. The advent of enzyme replacement therapy in the early 1990s changed the management, and survival, of patients with GD. In addition to this, development of substrate reduction, pharmacological chaperone, and gene therapies has broadened the horizon for this rare disease. However, in resource-poor countries like ours, optimal management is still a distant dream.

  19. Kirsner's inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    R Balfour Sarto; William J Sandborn


    @@ Very few medical textbooks have so thoroughly dominated,and even defined a field, as has Inflammatory Bowel Diseases by Joe Kirsner. Originally co-edited with Roy Shorter of Mayo Clinic, this book, beginning with its first edition in 1975, encapsulated the science and art of caring for patients with Crohn's disease and ulcerative colitis. Thus it is with considerable respect, and indeed some awe and trepidation,that we eagerly embraced the opportunity to assume the editorship of this preeminent textbook and the obligation to transition it to reflect the changing, increasingly complex pathophysiology and treatment of these diseases.


    Directory of Open Access Journals (Sweden)

    Grover Harpreet Singh


    Full Text Available Periodontitis is the result of complex interrelationships between infectious agents and host factors. Environmental, acquired, and genetic risk factors modify the expression of disease and may, therefore, affect the onset or progression of periodontitis. Numerous studies of the potential mechanisms whereby smoking tobacco may predispose to periodontal disease have been conducted, and it appears that smoking may affect the vasculature, the humoral immune system, and the cellular immune and inflammatory systems, and have effects throughout the cytokine and adhesion molecule network. The aim of present review is to consider the association between smoking and periodontal diseases.

  1. Imaging in Hirayama disease

    Directory of Open Access Journals (Sweden)

    Keshav Gupta


    Full Text Available Hirayama disease, also known as Sobue disease is a rare nonprogressive spinal muscular atrophy. Here, we report a case series of three young males presenting with atrophy of distal upper limb and Hirayama disease as their clinico-radiological diagnosis. Magnetic resonance imaging (MRI revealed loss of cervical lordosis with focal areas of lower cervical cord atrophy in a neutral position. MRI in flexion position revealed, anterior displacement of the detached posterior dura from the underlying lamina compressing the thecal sac and widened posterior epidural space with flow voids seen better on 3D-CISS images. All the three patients were managed conservatively.

  2. Pharmacology of Periodontal Disease. (United States)


    k 7RD-A157 116 PHARMRCOLOGY’ OF PERIODONTAL DISEASE(U) UNIVERSITY OF i/ I HEALTH SCIENCES/CHICAGO MEDICAL SCHOOL DEPT OF I PHARMACOLOGY S F HOFF 24...Region Bethesda, MD 20814-5044 • .RE: Annual Letter Report , ONR Contract #N00014-84-K-0562 "Pharmacology of Periodontal Disease" Dear Capt. Hancock...Annual Letter Report ONR Contract #N00014-84-K-0562 1,! t "Pharmacology of Periodontal Disease" f Steven F. Hoff, Ph.D. (Principal Investigator) A

  3. Fabry disease in children

    DEFF Research Database (Denmark)

    Borgwardt, Line Gutte; Feldt-Rasmussen, U; Rasmussen, AK


    Fabry disease is a rare, multiorgan disease. The most serious complications involve the kidney, brain and heart. This study aims to assess the effect of enzyme replacement therapy (ERT) using agalsidase-beta in children with Fabry disease. We carried out a nationwide, descriptive and observational...... increased. Treatment with agalsidase-beta was associated with a reduction of neuropathic and abdominal pain and headache. Although all aspects of the Fabry pain phenotype cannot be treated with ERT, the observed effects were clinically significant in the lives of the majority of Fabry children and together...

  4. Feline dental disease. (United States)

    Frost, P; Williams, C A


    Periodontal disease and chronic gingivitis/stomatitis are the most common feline dental diseases. With routine dental care and increased emphasis on home oral hygiene, these diseases can be controlled. Cats can be seen with a number of other dental disorders, and improved treatment methods such as restorations of early subgingival resorptive lesions, endodontic therapy, and orthodontic therapy can be performed successfully. More study and research are necessary about the gingivitis/stomatitis syndrome and subgingival resorptive lesions so that improved prevention and treatment recommendations can be made.

  5. [Upper extremity arterial diseases]. (United States)

    Becker, F


    Compared to lower limb arterial diseases, upper limb arterial diseases look rare, heterogeneous with various etiologies and a rather vague clinical picture, but with a negligible risk of amputation. Almost all types of arterial diseases can be present in the upper limb, but the anatomical and hemodynamic conditions particular to the upper limb often confuse the issue. Thus, atherosclerosis affects mainly the subclavian artery in its proximal segment where the potential of collateral pathway is high making the symptomatic forms not very frequent whereas the prevalence of subclavian artery stenosis or occlusion is relatively high. The clinical examination and the etiologies are discussed according to the clinical, anatomical and hemodynamic context.


    Directory of Open Access Journals (Sweden)

    I Gusti Ayu Mahaprani Danastri


    Full Text Available Crohn disease (CD and ulcerative colitis (UC is an chronic inflammation in the gastrointestinal tract. Colecctively, they are called inflammatory bowel disease (IBD, and about 1,5 millions people in America suffering from UC and CD. The cause of UC and CD is unknown, but the expert believe that UC and CD are caused by a disturbed immune response in someone who has a genetic predisposition. UC and CD have a significant recurrency  and remission rate. Surgery in UC is a curative treatment for colon’s disease and a potentially colon’s malignancy, but it is not a curative treatment for CD.

  7. Musculoskeletal Findings in Behcet's Disease

    Directory of Open Access Journals (Sweden)

    Ali Bicer


    Full Text Available Behcet's disease is a multisystem disease characterized by recurrent oral and genital ulcers, relapsing uveitis, mucocutaneous, articular, gastrointestinal, neurologic, and vascular manifestations. Rheumatologic manifestations may also occur in Behcet's disease, and arthritis and arthralgia are the most common musculoskeletal findings followed by enthesopathy, avascular necrosis, myalgia, and myositis. Although the main pathology of Behcet's disease has been known to be the underlying vasculitis, the etiology and exact pathogenesis of the disease are still unclear. Musculoskeletal findings of Behcet's disease, the relationship between Behcet's disease and spondyloarthropathy disease complex, and the status of bone metabolism in patients with Behcet's disease were discussed in this paper.

  8. Some Important Diseases of Tree Fruits - Diseases of Vegetable Crops - Diseases of Grapes - Diseases of Tree Nuts. (United States)

    Petersen, Donald H.; And Others

    This agriculture extension service publication from Pennsylvania State University consists of four sections on plant disease recognition and control. The titles of these four sections are: (1) Some Important Diseases of Tree Fruits; (2) Diseases of Vegetable Crops; (3) Diseases of Crops; and (4) Diseases of Tree Nuts. The first section discusses…

  9. Systemic manifestations of oral diseases


    N Chaitanya Babu; Andrea Joan Gomes


    The oral cavity is the site of much infectious and inflammatory disease which has been associated with systemic diseases such as diabetes, cardiovascular disease and pre-term low births. This article emphasizes on the oral-systemic disease connection which is now a rapidly advancing area of research. The possible systemic diseases which arise from oral microorganisms are hereby focused.

  10. Respiratory diseases of global consequence (United States)

    Respiratory diseases are one of the two major categories of poultry diseases that cause the most severe economic losses globally (the other being enteric disease). The economic impact of respiratory disease is both direct, from the production losses caused by primary disease and indirect from preve...

  11. Heart Disease, Stroke, or Other Cardiovascular Disease and Adult Vaccination (United States)

    ... Adult Vaccination Resources for Healthcare Professionals Heart Disease, Stroke, or Other Cardiovascular Disease and Adult Vaccination Language: ... with heart disease and those who have suffered stroke are at higher risk for serious problems from ...

  12. [Pregnancy and kidney diseases]. (United States)

    Siekierka-Harreis, M; Rump, L C


    The prevalence of chronic kidney disease in women of childbearing age reaches approximately 0.2%. Under physiological conditions pregnancy results in important hemodynamic changes on the maternal organism. In the case of chronic kidney disease these adaptations often are only partial. Physiological changes of immune response during pregnancy may contribute to the progress of renal disease. Regardless of the underlying kidney disease, one can assume that the better the glomerular filtration rate and blood pressure are the more favorable the course of pregnancy will be with the chance for a healthy child and stable renal function. To achieve this goal, a close interaction is required between gynecologist, nephrologist, and other specialists in a center with appropriate experience.

  13. Osteopetrosis (marble bone disease

    Directory of Open Access Journals (Sweden)

    Alexey Nikolayevich Kalyagin


    Full Text Available We report the data of the history of describing osteopetrosis (marble bone disease, its clinical features, diagnosis, and possible therapy approaches. Our own clinical case is presented.

  14. Parkinson's Disease Videos (United States)

    ... Funding Centers of Excellence Parkinson's Outcomes Project Grants Telemedicine & Virtual Care Professional Training Expert Care & Research Our ... Memory? How Does Parkinson's Disease Affect the Urinary System? How Does Speech Therapy Help Parkinson's Patients? How ...

  15. Peripheral Vascular Disease (United States)

    ... Murmurs High Blood Pressure (Hypertension) Infective Endocarditis Kawasaki Disease Long Q-T Syndrome Marfan Syndrome Metabolic Syndrome Mitral Valve Prolapse Myocardial Bridge Myocarditis Obstructive Sleep Apnea Pericarditis Rheumatic Fever Sick Sinus Syndrome Silent Ischemia Stroke Sudden ...

  16. Heart Disease (For Kids) (United States)

    ... brain. previous continue Surgeries If a patient has cardiovascular disease, the doctor will talk about how stopping smoking, losing weight, eating a healthy diet, and getting exercise can help. The person also may need to ...

  17. Parasitic Diseases: Glossary (United States)

    ... Departments Laboratory Science Related Links Parasites A-Z Index Parasites Glossary Neglected Tropical Diseases Laboratory Diagnostic Assistance [DPDx] Parasites ... A Anemia: A reduction in the number of circulating red ...

  18. American Lyme Disease Foundation (United States)

    ... are capable of transmitting other tick-borne diseases. Dog Tick In some regions, dog ticks are common vectors for Rocky Mountain Spotted ... these materials for a modest fee. A Spanish language brochure is also available. It should be noted ...

  19. Neuroinflammation in Alzheimer's disease

    NARCIS (Netherlands)

    Heneka, Michael T.; Carson, Monica J.; El Khoury, Joseph; Landreth, Gary E.; Brosseron, Frederic; Feinstein, Douglas L.; Jacobs, Andreas H.; Wyss-Coray, Tony; Vitorica, Javier; Ransohoff, Richard M.; Herrup, Karl; Frautschy, Sally A.; Finsen, Bente; Brown, Guy C.; Verkhratsky, Alexei; Yamanaka, Koji; Koistinaho, Jari; Latz, Eicke; Halle, Annett; Petzold, Gabor C.; Town, Terrence; Morgan, Dave; Shinohara, Mari L.; Perry, V. Hugh; Holmes, Clive; Bazan, Nicolas G.; Brooks, David J.; Hunot, Stephane; Joseph, Bertrand; Deigendesch, Nikolaus; Garaschuk, Olga; Boddeke, Erik; Dinarello, Charles A.; Breitner, John C.; Cole, Greg M.; Golenbock, Douglas T.; Kummer, Markus P.


    Increasing evidence suggests that Alzheimer's disease pathogenesis is not restricted to the neuronal compartment, but includes strong interactions with immunological mechanisms in the brain. Misfolded and aggregated proteins bind to pattern recognition receptors on microglia and astroglia, and trigg

  20. Hemoglobin C disease (United States)

    Clinical hemoglobin C ... Hemoglobin C is an abnormal type of hemoglobin, the protein in red blood cells that carries oxygen. It is ... Americans. You are more likely to have hemoglobin C disease if someone in your family has had ...

  1. Vaccines and Kawasaki disease. (United States)

    Esposito, Susanna; Bianchini, Sonia; Dellepiane, Rosa Maria; Principi, Nicola


    The distinctive immune system characteristics of children with Kawasaki disease (KD) could suggest that they respond in a particular way to all antigenic stimulations, including those due to vaccines. Moreover, treatment of KD is mainly based on immunomodulatory therapy. These factors suggest that vaccines and KD may interact in several ways. These interactions could be of clinical relevance because KD is a disease of younger children who receive most of the vaccines recommended for infectious disease prevention. This paper shows that available evidence does not support an association between KD development and vaccine administration. Moreover, it highlights that administration of routine vaccines is mandatory even in children with KD and all efforts must be made to ensure the highest degree of protection against vaccine-preventable diseases for these patients. However, studies are needed to clarify currently unsolved issues, especially issues related to immunologic interference induced by intravenous immunoglobulin and biological drugs.

  2. Biomarkers of Reflux Disease. (United States)

    Kia, Leila; Pandolfino, John E; Kahrilas, Peter J


    Gastroesophageal reflux disease (GERD) encompasses an array of disorders unified by the reflux of gastric contents. Because there are many potential disease manifestations, esophageal and extraesophageal, there is no single biomarker of the entire disease spectrum; a set of GERD biomarkers that each quantifies specific aspects of GERD-related pathology might be needed. We review recent reports of biomarkers of GERD, specifically in relation to endoscopically negative esophageal disease and excluding conventional pH-impedance monitoring. We consider histopathologic biomarkers, baseline impedance, and serologic assays to determine that most markers are based on manifestations of impaired esophageal mucosal integrity, which is based on increased ionic and molecular permeability, and/or destruction of tight junctions. Impaired mucosal integrity quantified by baseline mucosal impedance, proteolytic fragments of junctional proteins, or histopathologic features has emerged as a promising GERD biomarker.

  3. Kawasaki Disease (For Parents) (United States)

    ... Development Infections Diseases & Conditions Pregnancy & Baby Nutrition & Fitness Emotions & Behavior School & Family Life First Aid & Safety Doctors & ... soles of the feet with a purple-red color swollen lymph nodes During the second phase, which ...

  4. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... We fight for people with Parkinson's and their families every day. We are in this together. Learn ... Sexual Functioning? How Does Depression Affect the Patient's Family and Social Network? How Does Parkinson's Disease Affect ...

  5. Waterfowl disease contingency plan (United States)

    US Fish and Wildlife Service, Department of the Interior — The purpose of this contingency plan is reduce waterfowl losses from disease, primarily avian botulism, along the eastern shore of the Great Salt Lake in Utah. This...

  6. Heart disease and depression (United States)

    ... gov/ency/patientinstructions/000790.htm Heart disease and depression To use the sharing features on this page, ... a heart attack or heart surgery Signs of Depression It is pretty common to feel down or ...

  7. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... and Its Treatment Affect Sexual Functioning? How Does Depression Affect the Patient's Family and Social Network? How ... Behavior a Side Effect of PD Medications? Is Depression Under-Diagnosed in Patients with Parkinson's Disease? Is ...

  8. [Nail diseases in cosmetology]. (United States)

    Maleszka, Romuald; Ratajczak-Stefańska, Violetta; Boer, Magdalena; Kiedrowicz, Magdalena


    Clinical symptoms attributed to the nail apparatus and observed in cosmetology include atrophic or hypertrophic lesions, pathologic nail coloration, abnormalities of the nail surface, and disorders of the nail plate and bed junction. These symptoms may reflect pathologic processes limited to the nail apparatus or may be the consequence of a dermal or systemic disease. Even though the etiology of nail lesions is variegated, diseases of the nails are simply classified as infectious or non-infectious. The aim of this work was to present the most common diseases of the nail apparatus encountered in cosmetology. Often, nail diseases worsen the quality of life of the patient. In addition, the variegated symptomatology demonstrates that nail lesions should be viewed in a wider perspective because they often are important signs of pathologic processes taking place in the organism of the patient.

  9. Chronic Kidney Disease (United States)

    You have two kidneys, each about the size of your fist. Their main job is to filter wastes and excess water out of ... help control blood pressure, and make hormones. Chronic kidney disease (CKD) means that your kidneys are damaged ...

  10. [Wilson disease: liver form]. (United States)

    Guerra Montero, Luis; Ortega Álvarez, Félix; Sumire Umeres, Julia; Cok García, Jaime


    Wilson disease (WD) is a disorder of copper metabolism that is inherited as an autosomal recessive, which produces toxic copper accumulation mainly in the liver and brain, in general has two ways presentation, liver at early ages and neurological in later ages. We present the case of a female patient of 21 years diagnosed of WD in liver cirrhosis that started with an edematous ascites without any neurological symptoms despite the age. Their laboratory studies showed decrease in serum ceruloplasmin and high cupruria within 24 hours of the disease , characteristic data of WD. Although WD is not a common disease should be suspected in all chronic liver disease of unknown etiology with negative viral markers and autoimmunity with or without neurological manifestations as soon as posible and starting treatment with copper chelating mainly leads to a substantial improvement the prognosis of these patients.

  11. About Haemophilus influenzae Disease (United States)

    ... Hib Vaccination Hib Vaccination Meningitis Pneumonia Sepsis About Haemophilus influenzae Disease Recommend on Facebook Tweet Share Compartir H. ... severe, such as a bloodstream infection. Types of Haemophilus influenzae Infections Infections caused by these bacteria... Causes, How ...

  12. Machado-Joseph Disease (United States)

    ... long repeats of a normal repetition of three letters of the DNA genetic code. In the case ... Page Parkinson's Disease: Challenges, Progress, and Promise Septo-Optic Dysplasia Information Page Transient Ischemic Attack Information Page ...

  13. Chronic kidney disease (United States)

    ... 2010;362(1):56-65. PMID: 20054047 . Fogarty DG, Tall ... 5 Suppl 1):S1-S290. PMID: 15114537 . Kidney Disease: Improving ...

  14. Progression of Parkinson's Disease (United States)

    ... Parkinson's is the United Parkinson’s Disease Rating Scale (UPDRS). It is more comprehensive than the Hoehn and ... on movement symptoms. In addition to these, the UPDRS takes into account cognitive difficulties, ability to carry ...

  15. Pregnancy and Fifth Disease (United States)

    ... Cheek Rash Parvovirus B19 and Other Illnesses References Pregnancy and Fifth Disease Recommend on Facebook Tweet Share ... half of pregnancy. Testing for Parvovirus B19 during Pregnancy A blood test for parvovirus B19 can show ...

  16. Metastatic Bone Disease (United States)

    ... begin in bone are much less common in adults older than 45 years. Other diseases, such as Paget’s sarcoma, post-radiation sarcoma, hyperparathyroidism, and fractures due to osteoporosis, are also possibilities. Additional tests will likely be ...

  17. Diabetes and kidney disease (United States)

    Diabetic nephropathy; Nephropathy - diabetic; Diabetic glomerulosclerosis; Kimmelstiel-Wilson disease ... 26696680 . Tong LL, Adler S. Prevention and treatment of diabetic nephropathy. In: Johnson RJ, Feehally J, Floege J, eds. ...

  18. Tay-Sachs Disease (United States)

    ... without one of those important enzymes, hexosaminidase A (HEXA). So, as those fatty proteins build up in ... can have their unborn babies tested for the HEXA deficit that causes Tay-Sachs disease: If the ...

  19. Eye Disease and Development

    DEFF Research Database (Denmark)

    Andersen, Thomas Barnebeck; Dalgaard, Carl-Johan Lars; Selaya, Pablo

    This research advances the hypothesis that cross-country variation in the historical incidence of eye disease has influenced the current global distribution of per capita income. The theory is that pervasive eye disease diminished the incentive to accumulate skills, thereby delaying the fertility...... transition and the take-off to sustained economic growth. In order to estimate the influence from eye disease incidence empirically, we draw on an important fact from the field of epidemiology: Exposure to solar ultraviolet B radiation (UVB-R) is an underlying determinant of several forms of eye disease...... are robust to the inclusion of an extensive set of climate and geography controls. Moreover, using a global data set on economic activity for all terrestrial grid cells we show that the link between UVB-R and economic development survives the inclusion of country fixed effect....

  20. Alzheimer disease update. (United States)

    Matthews, Brandy R


    Alzheimer disease (AD) is a progressive neurodegenerative disorder affecting more than 37 million people worldwide and increasing in incidence based on its primary risk factor, advancing age. A growing body of knowledge regarding amyloid and tau neuropathology, genetic and environmental risk modifiers, early and atypical clinical presentations, and the use of symptom-modifying medical and psychosocial therapies is available to aid in the diagnosis and management of patients with AD. Exciting recent advances in neurobiology render the areas of genetic susceptibility, biomarkers for early disease detection and assessment of disease progression, and novel therapeutic strategies to modify the natural history of the disease compelling, but in need of further study before implementation into routine clinical practice is feasible.

  1. Thyroid Diseases Tests (United States)

    ... Thyroid antibodies – to help differentiate different types of thyroiditis and identify autoimmune thyroid conditions Thyroid peroxidase (TPO) ... can be detected in Graves disease or Hashimoto thyroiditis . It may be especially helpful in early Hashimoto ...

  2. Wilsons Disease: Diagnostic Approach

    Directory of Open Access Journals (Sweden)

    Hakan Gelincik


    Full Text Available Wilson disease (WD is an autosomal recessive disorder of copper transport caused by mutations in the ATP7B gene that encodes a P-type copper ATPase, ATP7B. In WD, a mutated dysfunctional ATP7B leads to a progressive accumulation of Cu in the liver and brain. Clinically, WND shows considerable phenotypic variability including fulminant hepatic failure, hemolysis, chronic liver disease, such as hepatitis and cirrhosis, and neuro-psychiatric disease with or without hepatic involvement. An 18 -year-old female patient who has the diagnosis of Wilson s disease was referred from outside center for genetic counseling. The mutations p.M1169T was identified in the homozygous form. [Cukurova Med J 2015; 40(2.000: 345-352

  3. Ulcer disease of trout (United States)

    Fish, F.F.


    During the summer of 1933, lesions of a disease were noted among some fingerling brook, rainbow, blackspotted, and lake trout at the Cortland (New York) trout hatchery. Although these lesions bore a marked superficial resemblance to those of furunculosis, they were sufficiently atypical to warrant further investigation. A more detailed examination of the lesions proved them to be of a distinct disease, which for lack of a better name is herein called "ulcer disease," for the lesions closely resemble those described by Calkins (1899) under this name. Because of the marked resemblance to furunculosis, ulcer disease has not been generally recognized by trout culturists, and any ulcer appearing on fish has been ascribed by them to furunculosis without further question.

  4. United Mitochondrial Disease Foundation (United States)

    ... to Mitochondrial Disease FAQ's MitoFirst Handbook More Information Mito 101 Symposium Archives Get Connected Find an Event Adult Advisory Council Team Ask The Mito Doc Grand Rounds Kids & Teens Medical Child Abuse ...

  5. What's Mad Cow Disease? (United States)

    ... Quizzes Kids' Dictionary of Medical Words En Español What Other Kids Are Reading Video: Am I Normal? ( ... Emergency Room? What Happens in the Operating Room? What's Mad Cow Disease? KidsHealth > For Kids > What's Mad ...

  6. Motor Neuron Diseases (United States)

    ... scoliosis that led to chronic changes in the biomechanics of the joints and spine. Symptoms are more ... to rule out diseases that affect the head, neck, and spinal cord. MRI images can help diagnose ...

  7. Gum (Periodontal) Disease (United States)

    ... gum disease are gingivitis and periodontitis. Gingivitis and Periodontitis In gingivitis, the gums become red, swollen and ... gingivitis is not treated, it can advance to periodontitis. In periodontitis, gums pull away from the teeth ...

  8. Lyme Disease (For Parents) (United States)

    ... vaccine for Lyme disease is currently on the market in the United States. previous continue Treatment Lyme ... 1 • 2 • 3 For Teens For Kids For Parents MORE ON THIS TOPIC First Aid: Tick Bites ...

  9. Epidemiology of Lyme Disease

    Directory of Open Access Journals (Sweden)

    Dennis J White


    Full Text Available Investigation of the epidemiology of Lyme disease depends upon information generated from several sources. Human disease surveillance can be conducted by both passive and active means involving physicians, public health agencies and laboratories. Passive and active tick surveillance programs can document the extent of tick-borne activity, identify the geographic range of potential vector species, and determine the relative risk of exposure to Lyme disease in specific areas. Standardized laboratory services can play an important role in providing data. Epidemiologists can gain a better understanding of Lyme disease through the collection of data from such programs. The interpretation of data and provision of information to the medical and general communities are important functions of public health agencies.

  10. Photodynamic treatment of diseases (United States)

    Thorne, James M.


    Certain dyes can be absorbed by biological tissue. If the dye absorbs light there, it can damage the tissue beyond repair. This effect is currently widely used to treat certain skin diseases and will undoubtedly be extended to internal diseases. A limited number of experiments have also shown its effectiveness against cancer in humans. Other dyes in tissue do no damage but merely fluoresce. The characteristics of this fluorescence may, in the future, be used to indicate the site and nature of disease in the body. Current optical technology seems particularly well adapted for use in these emerging areas of medicine. This paper suggests how optical technology, chemistry and clinical medicine may be combined in the photodynamic treatment of disease and forecasts the technological growth rates of the relevant biomedical specialties.

  11. Inflammatory bowel disease

    Energy Technology Data Exchange (ETDEWEB)

    Kottler, R.E.; Freson, M. (Groote Schuur Hospital, Cape Town (South Africa). Dept. of Radiology)


    Radiology is of considerable value in all forms of inflammatory bowel disease to establish its presence and extent, and to differentiate lesions. The most common inflammatory bowel diseases are Crohn's disease and ulcerative colitis. Crohn's disease may occur anywhere in the disgestive tract, but is most common in the terminal ileum. Since there is no practical endoscopic method of examining the small bowel, barium studies of the latter are most important. Modern radiological techniques, especially the double contrast barium enema, show excellent correlation between the macroscopic changes and the radiological features. Radiology alone does not provide the answers and the radiological features must be interpreted in conjunction with clinical investigation.

  12. Triglycerides and cardiovascular disease

    DEFF Research Database (Denmark)

    Nordestgaard, Børge G; Varbo, Anette


    cholesterol might not cause cardiovascular disease as originally thought has now generated renewed interest in raised concentrations of triglycerides. This renewed interest has also been driven by epidemiological and genetic evidence supporting raised triglycerides, remnant cholesterol, or triglyceride......-rich lipoproteins as an additional cause of cardiovascular disease and all-cause mortality. Triglycerides can be measured in the non-fasting or fasting states, with concentrations of 2-10 mmol/L conferring increased risk of cardiovascular disease, and concentrations greater than 10 mmol/L conferring increased risk...... of acute pancreatitis and possibly cardiovascular disease. Although randomised trials showing cardiovascular benefit of triglyceride reduction are scarce, new triglyceride-lowering drugs are being developed, and large-scale trials have been initiated that will hopefully provide conclusive evidence...

  13. Periodontal disease and atherosclerosis

    Directory of Open Access Journals (Sweden)

    Jeferson Freitas Toregeani


    Full Text Available Atherosclerotic disease (AD is one of the most important causes of morbidity and mortality in the world. It expresses inflammatory markers such as C-reactive protein (CRP and can provoke arterial wall thickening, which can be evaluated using Doppler ultrasound. Risk factors associated with AD include diabetes mellitus, systemic arterial hypertension, dyslipidemia and smoking. More recently, periodontal disease (PD has been identified as a factor related to AD. Periodontal disease has a high prevalence in the global population and the inflammatory process and bacterial activity at the periodontium appear to increase the risk of AD. Encouraging good oral hygiene can reduce expression of inflammatory markers of AD. A review of literature on PD, AD and inflammatory markers and the interrelationships between the two diseases was conducted using data published in articles indexed on the PUBMED, SCIELO and BIREME databases.

  14. Smoking and skin disease

    DEFF Research Database (Denmark)

    Thomsen, S F; Sørensen, L T


    Tobacco smoking is a serious and preventable health hazard that can cause or exacerbate a number of diseases and shorten life expectancy, but the role of smoking as an etiologic factor in the development of skin disease is largely unknown. Although epidemiological evidence is sparse, findings...... suggest that tobacco smoking is a contributing factor in systemic lupus erythematosus, psoriasis, palmoplantar pustulosis, cutaneous squamous cell carcinoma, hidradenitis suppurativa, and genital warts. In contrast, smoking may confer some protective effects and mitigate other skin diseases, notably...... pemphigus vulgaris, pyoderma gangrenosum, aphthous ulcers, and Behçet's disease. Various degenerative dermatologic conditions are also impacted by smoking, such as skin wrinkling and dysregulated wound healing, which can result in post-surgical complications and delayed or even arrested healing of chronic...

  15. Graves disease (image) (United States)

    Graves disease is an autoimmune disorder that involves overactivity of the thyroid gland (hyperthyroidism). Hallmarks of the condition are bulging eyes (exophthalmos), heat intolerance, increased energy, difficulty sleeping, diarrhea, and anxiety.

  16. Genetic Disease Foundation (United States)

    ... Newly Diagnosed Patients There are over 6,000 genetic disorders that can be passed down through the ... mission to help prevent, manage and treat inherited genetic diseases. View our latest News Brief here . You ...

  17. Evolution of inflammatory diseases. (United States)

    Okin, Daniel; Medzhitov, Ruslan


    The association of inflammation with modern human diseases (e.g. obesity, cardiovascular disease, type 2 diabetes mellitus, cancer) remains an unsolved mystery of current biology and medicine. Inflammation is a protective response to noxious stimuli that unavoidably occurs at a cost to normal tissue function. This fundamental trade-off between the cost and benefit of the inflammatory response has been optimized over evolutionary time for specific environmental conditions. Rapid change of the human environment due to niche construction outpaces genetic adaptation through natural selection, leading increasingly to a mismatch between the modern environment and selected traits. Consequently, multiple trade-offs that affect human physiology are not optimized to the modern environment, leading to increased disease susceptibility. Here we examine the inflammatory response from an evolutionary perspective. We discuss unique aspects of the inflammatory response and its evolutionary history that can help explain the association between inflammation and modern human diseases.

  18. Fifth Disease (Erythema Infectiosum) (United States)

    ... parvovirus B19 is not the same parvovirus that veterinarians may be concerned about in pets, especially dogs, ... become infected during pregnancy. Prevention There is no vaccine for fifth disease, and no real way to ...

  19. Ebola Virus Disease (United States)

    ... Marburg virus outbreaks: Ebola and Marburg virus disease epidemics: preparedness, alert, control, and evaluation When an outbreak ... Offices WHO African Region WHO Region of the Americas WHO South-East Asia Region WHO European Region ...

  20. Diabetes and periodontal disease

    Directory of Open Access Journals (Sweden)

    Rajkumar Daniel


    Full Text Available Diabetes mellitus is a systemic disease characterized by increased blood glucose levels and abnormalities of lipid metabolism due to absence or decreased level of insulin. It affects all the body organs and their functions either directly or indirectly. Every dentist should have a basic understanding of the etiopathogenesis, oral and systemic manifestations of this disease. The periodontal diseases are a consequence of extension of the gingival inflammation into the underlying supporting structures of the periodontium, initiated by the presence of plaque and its products on the surfaces of the teeth and the adjoining structures. The progression of periodontal disease is influenced by variety of factors like microorganisms, host response, systemic background, and genetic makeup of the host. Amongst them, diabetes mellitus tops the list. Diabetes and periodontitis influence the clinical outcome of each other and control of both influences the clinical improvement of each.

  1. Cat Scratch Disease (United States)

    Cat scratch disease (CSD) is an illness caused by the bacterium Bartonella henselae. Almost half of all cats carry ... infection does not make cats sick. However, the scratch or bite of an infected cat can cause ...

  2. Protagonists with Parkinson's disease. (United States)

    Haan, Joost


    Parkinson's disease is a complex disorder with many fascinating features. Its onset is creeping, the progression is slow but inevitable. There are motor symptoms, such as a tremor, rigidity, bradykinesia, mask-like facial expression, and postural abnormalities, but also hallucinations, cognitive deterioration, and depression. In many novels, fictive patients with Parkinson's disease play a role. It seems that authors have used many aspects of the disease to emphasize their messages. Their narratives include themes such as rigidity, petrifaction, confusion, dementia, and hallucinations. In this chapter, as examples, several protagonists with Parkinson's disease will be described from works of John Updike, Jonathan Franzen, Sue Miller, J.M. Coetzee, and John Harding, among others.

  3. Travelers' Health: Meningococcal Disease (United States)

    ... in an Area with Zika? Find a Clinic Yellow Fever Vaccinations Clinics FAQ Disease Directory Resources Resources for ... CE Courses and Training Presentations for Health Professionals Yellow Fever Vaccine Course About the Yellow Fever Vaccine Course ...

  4. Chronic obstructive pulmonary disease (United States)

    ... and oxygen therapy Right-sided heart failure or cor pulmonale (heart swelling and heart failure due to chronic ... PA: Elsevier Saunders; 2016:chap 44. Read More Cor pulmonale Dilated cardiomyopathy Heart failure - overview Lung disease Patient ...

  5. Heart disease. Third edition

    Energy Technology Data Exchange (ETDEWEB)

    Braunwald, E.


    This book contains 62 chapters. Some of the chapter titles are: Radiological and Angiographic Examination of the Heart; Newer Cardiac Imaging Techniques: Digital Subtraction Angiography, Computerized Tomography, Magnetic Resonance Imaging; Nuclear Cardiology; and Genetics and Cardiovascular Disease.

  6. Chronic Kidney Disease (CKD) (United States)

    ... CKD treated? Kidney-friendly diet for CKD What causes chronic kidney disease (CKD)? Anyone can get CKD. Some people are ... and high blood pressure are the most common causes of CKD. If you have diabetes or high blood pressure, ...

  7. Sleep and Chronic Disease (United States)

    ... message, please visit this page: About . Sleep About Us About Sleep Key Sleep Disorders Sleep ... Sheets Data & Statistics Projects and Partners Resources Events Sleep and Chronic Disease Recommend on Facebook Tweet Share ...

  8. Minimal change disease (United States)

    ... get worse You develop new symptoms, including side effects from the medicines used to treat the disorder Alternative Names Minimal change nephrotic syndrome; Nil disease; Lipoid nephrosis; Idiopathic nephrotic syndrome of childhood Images ...

  9. Pregnancy and Thyroid Disease (United States)

    ... preeclampsia—a dangerous rise in blood pressure in late pregnancy thyroid storm—a sudden, severe worsening of symptoms miscarriage premature birth low birth weight If a woman has Graves’ disease ...

  10. [Asbestos and respiratory diseases]. (United States)

    Scherpereel, Arnaud


    Previous occupational asbestos exposure (more rarely environmental or domestic exposure) may induce various pleural and/or pulmonary, benign or malignant diseases, sometimes with a very long latency for malignant mesothelioma (MM). Asbestos has been widely extracted and used in Western countries and in emerging or developing countries, resulting in a peak of MM incidence in France around 2020 and likely in a world pandemic of asbestos-induced diseases. These patients have mostly benign respiratory diseases (pleural plugs) but may also be diagnosed with lung cancer or malignant pleural mesothelioma, and have a global poor outcome. New therapeutic tools (targeted therapies, immunotherapy…) with first promising results are developed. However, it is crucial to obtain a full ban of asbestos use worldwide, and to do a regular follow-up of asbestos-exposed subjects, mostly if they are already diagnosed with benign respiratory diseases. Finally, new cancers (larynx and ovary) were recently added to the list of asbestos-induced tumors.

  11. Moyamoya disease : a review.

    Directory of Open Access Journals (Sweden)

    Gosalakkal J


    Full Text Available Moyamoya is probably an inherited vasocclusive disease first described in Japan and now reported from all over the world. Genetic linkage studies and study of the factors possibly involved in its pathogenesis have shed new light on this disease. There is some suggestion that the pathogenesis may vary between races. A number of revascularization procedures have been devised. There is still controversy regarding the timing and the type of surgery. Functional MRI and PET scanning may provide more objective criterion on the outcome of these procedures. Neuropsychological studies may also be of use in judging the benefits of surgery. In this review, some of the recent advances in the study of the genetics and pathogenesis of the disease are reviewed and the clinical manifestation and the role of surgery are discussed. Relative lack of literature from outside Japan and the Korean peninsula has hampered the understanding of the disease in other countries.

  12. Neuroinflammation in Alzheimer's disease


    Heneka, MT; Carson, MJ; Khoury, JE; Landreth, GE; Brosseron, F.; Feinstein, Dl; Jacobs, AH; Wyss-Coray, T; Vitorica, J; Ransohoff, RM; Herrup, K; Frautschy, SA; Finsen, B.; Brown, GC; Verkhratsky, A.


    © 2015 Elsevier Ltd. Increasing evidence suggests that Alzheimer's disease pathogenesis is not restricted to the neuronal compartment, but includes strong interactions with immunological mechanisms in the brain. Misfolded and aggregated proteins bind to pattern recognition receptors on microglia and astroglia, and trigger an innate immune response characterised by release of inflammatory mediators, which contribute to disease progression and severity. Genome-wide analysis suggests that severa...

  13. Chronic obstructive pulmonary disease

    Institute of Scientific and Technical Information of China (English)


    2008430 Effect of gas exchange at maximal intensity on exercise capacity in patients with chronic obstructive pulmonary disease. WANG Haoyan(王浩彦), et al. Dept Respir Dis, Beijing Friendship Hosp, Capital Med Sci Univ, Beijing 100050. Chin J Tuberc Respir Dis 2008;31(6):414-416. Objective To investigate the effect of gas exchange at maximal intensity on exercise capacity in patients with chronic obstructive pulmonary disease (COPD).

  14. Soybean diseases in Poland

    Directory of Open Access Journals (Sweden)

    J. Marcinkowska


    Full Text Available Field observations on the occurrence of soybean diseases were undertaken in the southern and central regions of Poland in the period 1976-1980. Most prevalent were foliage diseases caused by Peronospora manshurica, Pseudomonas syrinqae pv. glycinea and soybean mosaic virus (SMV. Sclerotinia sclerotiorum and Ascochyta sojaecola were reported as pathogens of local importance. The following pathogenic fungi: Botrytis cinerea, Fusarium culmorum, F. oxysporum and Rhizoctonia solani were also isolated from soybean.

  15. Other cardiovascular disease

    Institute of Scientific and Technical Information of China (English)


    2005198 Study on the relationship of plasma fib-rinogen, platelet aggregation rate ad peripheral arterial occlusive disease. WANG Jie(王洁), et al. Dept Emerg, Gene Hosp Chin People’s Armed Police Forces, Beijing 100039. Chin J Epidemiol, 2005; 26 (1):1-4. Objective: To detect the relationship of plasma fibrinogen, platelet aggregation rate and peripheral arterial occlusive disease (PAOD) in the elderly.

  16. [Dowling-Degos disease]. (United States)

    Fernández-Redondo, V; Losada, A; Zulaica, A; Cebreiro, C; Cervantes, R; Toribio, J


    We report two cases of Dowling-Degos' disease, one affecting the vulvovaginal semimucose, and one associated to a terminal malignant neoplasia. We remark the importance of this knowledge in order to distinguish it from malignant acanthosis nigricans or other patterns of melanosis or lentiginosis when located within mucose or semimucose, specially at the genitals. All cases associated to malignant neoplasia described are emphasized. However Dowling-Degos' disease is considered to be a nonparaneoplasic genodermatoses, this association should be taken into account.

  17. Ebola Virus Disease

    Centers for Disease Control (CDC) Podcasts


    This podcast provides general information about Ebola virus disease and the outbreak in West Africa. The program contains remarks from CDC Director Dr. Tom Frieden, as well as a brief description of CDC’s response efforts.  Created: 8/8/2014 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 8/8/2014.

  18. Respiratory diseases in pregnancy



    Pulmonary diseases are one of the major indirect causes of maternal deaths. Pregnancy is a unique physiological state during which changes occur in all systems of the body to meet metabolic needs of both the mother and growing foetus. Enlarging uterus and increasing hormonal levels cause changes in volumes and mechanics of lungs. Understanding the basic physiology of the cardiovascular and respiratory changes during pregnancy along with the pathology of disease processes are vital in makin...

  19. Depression in cerebrovascular diseases


    Voskresenskaya, Tatyana


    The paper discusses the topical problem of depression in cerebrovascular diseases. It shows its possible causes, mechanisms of occurrence, clinical picture and negative impact on the course of cerebrovascular disease and recovery of neurological functions. There is a bilateral association between stroke and depression: on the one hand, stroke is a risk factor for the development of depression and, on the other, depression is a both direct and indirect risk factor for the development of stroke...



    Bens Pardamean; Anindito; Anjela Djoeang; Nana Tobing


    The study designed an information system model for Disease Management (DisMan) that met the specifications and needs of a consumer electronics manufacturer. The diseases monitored by this study were diabetes, hypertension and tuberculosis. Data were collected through interviews with the companyâs human resources department and occupational health provider. As for the model, literature and online research were conducted to collect health standards and information system standards on existing D...