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Sample records for intermediate anorectal malformations

  1. MR findings of congenital anorectal malformation

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo [Ewha Womens University, medical College, Seoul (Korea, Republic of)

    1995-05-15

    To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation.

  2. MR findings of congenital anorectal malformation

    International Nuclear Information System (INIS)

    Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo

    1995-01-01

    To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation

  3. Spontaneous ileal perforation complicating low anorectal malformation

    Directory of Open Access Journals (Sweden)

    TiJesuni Olatunji

    2015-01-01

    Full Text Available Anorectal malformation is a common anomaly in neonates. Although colorectal perforations have been reported as a complication, ileal perforation is rarely encountered. This is a report of a 2-day-old boy presenting with a low anorectal malformation, complicated with ileal perforation, necessitating laparotomy and ileal repair. Anoplasty was done for the low anomaly. Early presentation and prompt treatment of anorectal malformations is important to prevent such potential life threatening complication.

  4. Outcome of excision of megarectum in children with anorectal malformation.

    Science.gov (United States)

    Keshtgar, Alireza S; Ward, Harry C; Richards, Catherine; Clayden, Graham S

    2007-01-01

    Megarectum in association with anorectal malformation contributes to chronic constipation and fecal incontinence. Resection of megarectum in anorectal malformation improves bowel function, but neuropathy and poor sphincter quality may affect the outcome of fecal continence adversely. The aim of this study was to evaluate the benefits of resection of megarectum in anorectal malformation and to ascertain the impact of anal sphincter quality and neuropathy on the outcome. We studied 62 children with intractable fecal incontinence after repair of anorectal malformation between January 1991 and January 2005. All patients were investigated with anorectal manometry and anal endosonography under ketamine anesthesia. On endosonography, an intact or scarred internal anal sphincter (IAS) was classified as good and a fragmented or absent IAS as poor. On manometry, a resting anal sphincter pressure equal to or more than 30 mm Hg was classified as good and a lower pressure as poor. Functional assessment of fecal continence was done before and after excision of megarectum using a modified Wingfield scores. Sixteen children had excision of megarectum with median age of 9 years (range, 2-15 years) and postoperative follow-up of 5 years (range, 1-10 years). Seven had formation of antegrade continent enema stoma before excision of megarectum. Children were classified into three groups of anomalies: low (n = 6), intermediate (n = 4), and high (n = 6). All children were incontinent of feces. After excision of megarectum, of the 9 children with good IAS and no neuropathy, 7 became continent of feces. Of the remaining 7 children, 4 had poor IAS and 3 had neuropathy, 5 of whom required an antegrade continent enema stoma to be clean. Excision of megarectum in children who had previous repair of anorectal malformation results in fecal continence in the presence of a good IAS and absence of neuropathy. Patients with a poor IAS or neuropathy will often require artificial means of fecal

  5. The posterior urethra in anorectal malformations.

    Science.gov (United States)

    Mickelson, Jennifer J; MacNeily, Andrew E; Blair, Geoffrey K

    2007-03-01

    Anorectal malformations are commonly associated with recto-urethral fistulas. Definitive repair of these anomalies may result in injury to the bladder and urethra. Accurate preoperative assessment of the anatomy is imperative to identify the structures and avoid unnecessary injury. This brief report provides radiographic images that demonstrate these anomalies.

  6. Underdiagnosis of Mild Congenital Anorectal Malformations

    NARCIS (Netherlands)

    Jonker, Jara E.; Trzpis, Monika; Broens, Paul M. A.

    Objective: To determine whether the frequency and severity of congenital anorectal malformations (CARMs) differs by sex. Study design: We included 129 patients (0-319 weeks old) diagnosed with CARMs, who had been referred to our Department of Pediatric Surgery between 2004 and 2013. Rectoperineal

  7. Urogenital tract anomalies in children with congenital anorectal malformation

    NARCIS (Netherlands)

    J.W. Hoekstra

    1991-01-01

    textabstractThe term 'imperforate anus' covers a variety of congenital anorectal malformations ranging in severity from anal stenosis to cloacal exstrophy. The clinical picture of the anorectal malformation has been known for thousands of years, during which many attempts have been made to find

  8. Three dimensional animated images of anorectal malformations

    International Nuclear Information System (INIS)

    Ueno, Shigeru; Yanagimachi, Noriharu; Muro, Isao; Komiya, Taizo; Yokoyama, Seishichi; Hirakawa, Hitoshi; Tajima, Tomoo; Mitomi, Toshio; Suto, Yasuzo.

    1996-01-01

    Accurate reconstruction of the pelvic structures is a most important factor in obtaining a desirable result after anorectoplasty for a patient with anorectal malformation. Preoperative evaluation of the anatomy is indispensable for choosing an appropriate operative method in each case. To facilitate preoperative evaluation, three dimensional animated images of the pelvic structure of patients with anorectal malformations were constructed by computer graphics based upon tomographic images obtained from magnetic resonance imaging. Axial 1-mm thick images of the pelvic portion were generated with spoiling pulse gradient echo sequences using short repetition times (13 msec TR) and short echo times (6 msec TE) with a flip angle of 25 degrees with the patient in the jack-knife position. Graphic data from MR images were transferred to a graphic work station and processed on it. The skin surface, the ano-rectum, the lower urinary tract and the sphincter musculature were segmented by thresholding images by the signal intensity. Three dimensional images were displayed by surface rendering method using the segmented data of each organ and then animation images of these organs were obtained. The anatomy of each type of anomaly was easily recognized by 3-D visualization, and animation of the pelvic viscera and the sphincter musculature made the images more realistic. Animated images of the musculature were especially useful for simulating surgical procedures and could be helpful for reviewing surgical results. (author)

  9. Colostomy for anorectal malformation in a tertiary center in Nigeria ...

    African Journals Online (AJOL)

    Background: Anorectal malformations constitute a wide spectrum of congenital anorectal abnormalities ranging from absent anus to anal membranes and fistulae. It is one major indication for the creation of colostomy in early neonatal life. This study was aimed at o describe and highlight the place of colostomy in the ...

  10. MR imaging of anorectal malformations and associated anomalies

    International Nuclear Information System (INIS)

    Nievelstein, R.A.J.; Valk, J.; Vos, A.

    1998-01-01

    Congenital anorectal malformations are found in many forms, and are frequently associated with other anomalies, especially of the spinal cord, spine, and urogenital system. Decisions concerning initial management of children with anorectal malformations can be made only after accurate determination of (a) the level and type of malformation, (b) the type of fistula, (c) the developmental state of the sphincter muscle complex, and (d) the presence of associated anomalies. Magnetic resonance imaging has proven to be the only modality to answer all these crucial questions, and has contributed to a better insight in the morphology and pathogenesis of such complex congenital malformations. (orig.)

  11. Nonfluoroscopic pressure colostography in the evaluation of genitourinary fistula of anorectal malformations: experience in a resource-poor environment

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    Abdulkadir, Adekunle Yisau; Adesiyun, Olusola Morohunfade [University of Ilorin, Department of Radiology, Teaching Hospital, Ilorin, Kwara State (Nigeria); Abdur-Rahman, Lukman Olajide [University of Ilorin, Paediatric Surgery Unit, Teaching Hospital, Ilorin, Kwara State (Nigeria)

    2009-02-15

    Radiological imaging is paramount for defining the genitourinary fistulae commonly associated with anorectal malformations prior to definitive surgery. The imaging options are resource-limited in many parts of the world. Nonfluoroscopic pressure colostography after colostomy is a cheap method for the evaluation of anorectal malformations. To describe our experience with nonfluoroscopic pressure colostography in the evaluation of anorectal malformations in boys. The study included 12 boys with anorectal malformation who had colostomy and nonfluoroscopic pressure-augmented colostography with water-soluble contrast medium between January 2006 and December 2007. Patient ages ranged from 2 days to 1 year. The types of genitourinary fistula were rectovesical (7.7%) and rectourethral (92.3%). Oblique radiographs were of diagnostic value in all patients. The types of anorectal malformations were high, intermediate and low in 75%, 8.3% and 16.7%, respectively. Short-segment urethral constriction was a common feature of rectourethral fistula (75%, n=9). Our experience has shown that genitourinary fistulae associated with anorectal malformations can be demonstrated reliably by nonfluoroscopic pressure colostography with two oblique radiographs, providing an option in resource-poor settings where fluoroscopic equipment is scarce. (orig.)

  12. Anorectal malformations in neonates | Mirza | African Journal of ...

    African Journals Online (AJOL)

    Background: Anorectal malformations (ARM) are associated with congenital anomalies and other risk factors, yielding a poor prognosis, especially in neonatal life. Objectives: This study was performed to identify the congenital anomalies as a factor of poor prognosis (mortality) in such patients. Settings: Department of ...

  13. Umbilical site for temporary colostomy in anorectal malformations: is ...

    African Journals Online (AJOL)

    Umbilical site for temporary colostomy in anorectal malformations: is it cosmetically preferable? Taha Alkhatrawi, Radi Elsherbini and Djamal Ouslimane. Purpose In an attempt to minimize the scars and improve the cosmetic outcome in children, the umbilical site has been chosen for colostomy formation in patients with.

  14. Current management of anorectal malformation in Egypt: a survey of ...

    African Journals Online (AJOL)

    Background/aim: Anorectal malformation (ARM) represents a wide spectrum of anomalies. Its management includes various strategies. This survey aims at detecting the current preferences of Egyptian pediatric surgeons regarding the management of ARM. Materials and methods: A survey was circulated individually to the ...

  15. Utility of spinal MRI in children with anorectal malformation

    Energy Technology Data Exchange (ETDEWEB)

    Miyasaka, Mikiko; Nosaka, Shunsuke; Tsutsumi, Yoshiyuki [National Centre for Child Health and Development, Radiology, Tokyo (Japan); Kitano, Yoshihiro [Saitama Children' s Medical Centre, Paediatric Surgery, Saitama (Japan); Ueoka, Katsuhiko [National Centre for Child Health and Development, Paediatric Urology, Tokyo (Japan); Kuroda, Tatsuo; Honna, Toshiroh [National Centre for Child Health and Development, Paediatric Surgery, Tokyo (Japan)

    2009-08-15

    The association between spinal cord anomalies and imperforate anus is well recognized. Until now, the incidence of tethered cord has been assumed to be higher in patients with high-type imperforate anus. However, recent reports suggest that tethered cord is as common in patients with a low lesion as in those with a high lesion. To review the incidence of spinal cord anomalies in those with a low lesion and those with a high (including intermediate) anorectal malformation (ARM), and to determine the best diagnostic imaging strategy. A group of 50 consecutive patients with postoperative ARM and in whom spinal MRI had been performed were identified retrospectively. We reviewed and compared the following factors between those with a high lesion and those with a low lesion: (1) clinical symptoms, (2) spinal cord anomalies, and (3) vertebral anomalies. The incidence of spinal cord anomalies was no different between those with a high lesion and those with a low lesion, and spinal cord anomalies were present regardless of the presence of vertebral anomalies or symptoms. Owing to the high incidence of spinal cord anomalies in patients with imperforate anus, MRI is the best imaging tool for detecting such anomalies regardless of the level of the lesion. (orig.)

  16. Postoperative MRI evaluation of anorectal malformations with clinical correlation

    International Nuclear Information System (INIS)

    Fukuya, T.; Honda, H.; Kubota, M.; Hayashi, T.; Kawashima, A.; Tateshi, Y.; Shono, T.; Suita, S.; Masuda, K.

    1993-01-01

    Sixteen postoperative patients with anorectal malformation were evaluated by MRI, and the results compared with the clinical assessment. Patients were classified into three groups - good (group 1, n = 10), fair (group 2, n = 3) and poor (group 3, n = 3) - on the basis of Kelly's clinical score of incontinence. The degree of development of the puborectalis and external sphincter muscles and the levator hammock was evaluated on MRI in comparison with patients without anorectal disease. The proportions of fair or poor development of the muscles were 37% in group 1,22% in group 2 and 67% in group 3. Although fair or poor development of the muscles was seen more frequently in group 3, there was no statistically significant difference between groups. However, poorly developed muscles were seen only in patients with fair or poor clinical scores. The difference in the anorectal angle measured on sagittal MRI images between patients in group 1 and groups 2 or 3 was significant. Our study indicates that MRI evaluation based solely on muscle development can be misleading, and measurement of the anorectal angle should be included in the MRI evaluation. (orig.)

  17. Parental Subfertility, Fertility Treatment, and the Risk of Congenital Anorectal Malformations

    NARCIS (Netherlands)

    Wijers, Charlotte H. W.; van Rooij, Iris A. L. M.; Rassouli, Roxana; Wijnen, Marc H.; Broens, Paul M. A.; Sloots, Cornelius E. J.; Brunner, Han G.; De Blaauw, Ivo; Roeleveld, Nel

    Background: Fertility treatment seems to play a role in the etiology of congenital anorectal malformations, but it is unclear whether the underlying parental subfertility, ovulation induction, or the treatment itself is involved. Therefore, we investigated the odds of anorectal malformations among

  18. Association of anorectal malformation with anal and rectal duplication

    Directory of Open Access Journals (Sweden)

    Karla A. Santos-Jasso

    2014-08-01

    We present three cases of rectal duplications with anorectal malforma- tion with recto-perineal fistula and colonic duplication. Two of them with delayed diagnosis and bowel obstruction, treated with laparotomy, colostomy and side-to-side anastomosis of the proximal colonic duplica- tion; in the third case the diagnosis of the colonic and rectal duplication was made during a colostomy opening. For definitive correction, the three patients underwent abdomino-perineal approach and side-to-side anastomosis of the rectal duplication, placement of the rectum within the muscle complex, and later on colostomy closure. In a fourth patient with anorectal malformation and colostomy after birth, the perineal electro-stimulation showed two muscle complexes. A posterior sagittal approach in both showed two separate blind rectal pouches; an end- to-side anastomosis of the dilated rectum was made, and the muscle complex with stronger contraction was used for the anoplasty. The posterior sagittal approach is the best surgical option to preserve the muscle complex, with a better prognosis for rectal continence.

  19. A rare association of rectal and genitourinary duplication and anorectal malformation

    Institute of Scientific and Technical Information of China (English)

    王俊; 施诚仁; 余世耀; 吴燕; 徐长辉

    2003-01-01

    @@ It is very rare to see multiple malformations occurring in both the urogenital and digestive systems in a case of congenital anorectal malformation. In this particular care, an imperforated anus occurred with other multiple malformations, including a double kidney, urethral duplication and rectal duplication, etc.

  20. Factors affecting quality of life of children and adolescents with anorectal malformations or Hirschsprung disease

    NARCIS (Netherlands)

    Hartman, Esther E.; Oort, Frans J.; Sprangers, Mirjam A. G.; Hanneman, Marianne J. G.; van Heurn, L. W. Ernest; de Langen, Zacharias J.; Madern, Gerard C.; Rieu, Paul N. M. A.; van der Zee, David C.; Looyaard, Nic; van Silfhout-Bezemer, Marina; Aronson, Daniel C.

    2008-01-01

    Objectives: First, to compare the quality of life (QL) and perceived self-competence of children and adolescents with anorectal malformations or Hirschsprung disease with that of reference groups. Second, to identify predictors of QL. Patients and Methods: A total of 491 patients with anorectal

  1. Factors affecting quality of life of children and adolescents with anorectal malformations or Hirschsprung disease

    NARCIS (Netherlands)

    Hartman, Esther E.; Oort, Frans J.; Sprangers, Mirjam A. G.; Hanneman, Marianne J. G.; van Heurn, L. W. Ernest; de Langen, Zacharias J.; Madern, Gerard C.; Rieu, Paul N. M. A.; van der Zee, David C.; Looyaard, Nic; van Silfhout-Bezemer, Marina; Aronson, Daniel C.

    2008-01-01

    OBJECTIVES: First, to compare the quality of life (QL) and perceived self-competence of children and adolescents with anorectal malformations or Hirschsprung disease with that of reference groups. Second, to identify predictors of QL. PATIENTS AND METHODS: A total of 491 patients with anorectal

  2. Evaluation of postoperative anal functions using endoanal ultrasonography and anorectal manometry in children with congenital anorectal malformations.

    Science.gov (United States)

    Wang, Zhichao; Hu, Lijun; Jin, Xianqing; Li, Xiaoqing; Xu, Lixia

    2016-03-01

    The aim of this study was to assess the postoperative anorectal anatomy and function in children with congenital anorectal malformations (ARM) using endoanal ultrasonography (EUS) and anorectal manometry. This study included 47 children who had undergone posterior sagittal anorectoplasty (PSARP) or transperineal anorectoplasty for the repair of an ARM. Children were grouped according to symptoms of defecation disorder, including normal defecation, fecal soiling, fecal incontinence, and constipation. Ten children with no history of anal or rectal diseases served as healthy controls. A well-established scoring system was used for the evaluation of anal function and defecation disorder. EUS showed significant differences in the thickness of the interior sphincter between the ARM patients and the healthy controls (Pinterior sphincters between the PSARP group and transperineal anorectoplasty group (P>0.05). Anorectal manometry showed that the balloon volumes were significantly different between the surgical group and the control group (Pchildren with ARM. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Fecal incontinence in operated cases for anorectal malformations

    International Nuclear Information System (INIS)

    Fondelli, P.; Taccone, A.; Martucciello, G.; Dodero, P.; Caffarena, P.

    1989-01-01

    In spite of great progress in surgical treatment of anorectal malformations, fecal incontinence is still, in variable degrees, a frequent and unpleasant postsurgical sequela. The most frequent causes of incontinence are: 1) the incorrect placement of the pulled-through colon in the levator ani and sphincteric muscular complex during abdomino-perineal surgical procedures; 2) the poor development of sphinteric musculature; 3) the associated sacral anomalies. Postoperative CT helps to evaluate all the above-mentioned conditions, in view of possible new surgical procedure for improving continence (besides postoperative CT can help in choosing the more suitable surgical technique). Nine patients, aged 3 to 13 years (2 with good continence and 7 with various degrees of incontinence), were studied with pelvic postoperative CT. In the cases (2) with good continence the CT picture was: good development of sphincteric musculature and neo-anorectum correctly placed into sphinteric musculature; in the cases (3) with low degree of continence: neoanorectum correctly placed, but hypoplasic puborectal muscle; in the case (4) with complete incontinence, neo-anorectum incorrectly placed and poor development of sphinteric musculature. A further Posterior Sagittal Anorectoplasty (according Pena) is only suitable in the incontinence cases with: 1) neo-anorectum seriously misplaced; 2) good development of sphinteric musculature; 3) absence of sacral anomalies. Postoperative CT is a valid mean for demostrating all the above-mentioned conditions and for chooosing the best surgical technique in each case

  4. Loop versus divided colostomy for the management of anorectal malformations.

    Science.gov (United States)

    Oda, Omar; Davies, Dafydd; Colapinto, Kimberly; Gerstle, J Ted

    2014-01-01

    The purpose of this study was to compare the clinical outcomes of loop and divided colostomies in patients with anorectal malformations (ARM). We performed a retrospective cohort study reviewing the medical records of all patients with ARM managed with diverting colostomies between 2000 and 2010 at our institution. Independent variables and outcomes of stoma complications were analyzed by parametric measures and logistic regression. One hundred forty-four patients managed with a colostomy for ARM were evaluated (37.5% females, 50.7% loop, 49.3% divided). The incidence of patients with loop and divided colostomies who developed stoma-related complications was 31.5 and 15.5%, respectively (p=0.031). The incidence of prolapse was 17.8 and 2.8%, respectively (p=0.005). Multivariable-logistic regression controlling for other significant independent variables found loop colostomies to be positively associated with the development of a stoma complication (OR 3.13, 95%CI (1.09, 8.96), p=0.033). When individual complications were evaluated, it was only stoma prolapse that was more likely in patients with loop colostomies (OR 8.75, 95%CI (1.74, 44.16), p=0.009). Because of the higher incidence of prolapse, loop colostomies were found to be associated with a higher total incidence of complications than divided stomas. The development of other complications, including urinary tract infections (UTIs) and megarectum, were independent of the type of colostomy performed. © 2014.

  5. Delayed presentation of anorectal malformation for definitive surgery.

    Science.gov (United States)

    Sharma, Shilpa; Gupta, Devendra K

    2012-08-01

    To retrospectively study the outcome of patients with anorectal malformations (ARM) presenting late for definitive procedure. Patients with ARM presenting beyond 5 months of age managed from January 2008 to March 2012 were studied for clinical outcome. Ages at presentation varied from 5 months to 14 years, seven patients were older than 5 years of age. Of the 36 cases, 5 patients (3 boys and 2 girls) had presented with colostomy done elsewhere. Four patients had high anomalies. Of the 33 girls, 14 had rectovestibular fistula and 9 had anovestibular fistula. Bowel preparation with peglec was used in patients without colostomy. Preoperative retention enemas, laxatives and Hegar dilators were used for 3-11 days before surgery. On table irrigation was required in four. Patients without a covering colostomy were kept nil per oral for 5 days following surgery in prone/lateral position. Two patients had mild post-op wound infection, and were managed with local care. Delayed presentation of ARM especially in girls is quite common in developing countries. With proper perioperative care, these cases may be managed successfully with a single stage procedure in most cases. The mature tissue growth with age allows proper tissue dissection and good repair of the perineal body in girls.

  6. Prevalence of Active Long-term Problems in Patients With Anorectal Malformations: A Systematic Review.

    Science.gov (United States)

    Rigueros Springford, Laurie; Connor, Martin J; Jones, Katie; Kapetanakis, Venediktos V; Giuliani, Stefano

    2016-06-01

    Anorectal malformations are a spectrum of congenital anomalies of the rectum with high infantile survival rates and variable outcomes. Long-term (>10 years old) active problems associated with this condition have been poorly investigated. The purpose of this review was to systematically define the prevalence of the most common active long-term problems in patients with a history of anorectal malformation repair. MEDLINE, EMBASE, and the Cochrane Library were searched electronically using the OVID search platform. Original articles from August 1, 1994, to October 20, 2015, that included outcome data for patients aged ≥10 years with anorectal malformation. Cloaca was excluded from the study. Prevalence estimates of anorectal malformations were obtained from published articles. CIs were ascertained in the logit scale after transforming prevalence into log odds and were then transformed into the original scale. The same method was used for subgroup analysis investigating high and low anorectal malformations. The overall prevalences of fecal, urinary, and sexual dysfunction were analyzed. Twelve studies including 455 patients with a history of anorectal malformation repair were included for analysis. The range of reported prevalence of long-term active problems was as follows: fecal incontinence, 16.7% to 76.7%; chronic constipation, 22.2% to 86.7%; urinary incontinence, 1.7% to 30.5%; ejaculatory dysfunction, 15.6% to 41.2%; and erectile dysfunction, 5.6% to 11.8%. The study was limited by its retrospective, small size; multiple complex associated anomalies often not reported; and heterogeneous composition of patients with limited stratification analysis. There is an overall high prevalence of active long-term issues in adolescents and young adults with anorectal malformations. Additional multicenter research is needed to define characteristics and predictors of long-term outcome, to implement effective follow-up, and to transition to adult health care.

  7. Sphincter saving anorectoplasty (SSARP for the reconstruction of Anorectal malformations

    Directory of Open Access Journals (Sweden)

    Paudel Bishnu

    2007-09-01

    Full Text Available Abstract Background This report describes a new technique of sphincter saving anorectoplasty (SSARP for the repair of anorectal malformations (ARM. Methods Twenty six males with high ARM were treated with SSARP. Preoperative localization of the center of the muscle complex is facilitated using real time sonography and computed tomography. A soft guide wire is inserted under image control which serves as the route for final pull through of bowel. The operative technique consists of a subcoccygeal approach to dissect the blind rectal pouch. The separation of the rectum from the fistulous communication followed by pull through of the bowel is performed through the same incision. The skin or the levators in the midline posteriorly are not divided. Postoperative anorectal function as assessed by clinical Wingspread scoring was judged as excellent, good, fair and poor. Older patients were examined for sensations of touch, pain, heat and cold in the circumanal skin and the perineum. Electromyography (EMG was done to assess preoperative and postoperative integrity of external anal sphincter (EAS. Results The patients were separated in 2 groups. The first group, Group I (n = 10, were newborns in whom SSARP was performed as a primary procedure. The second group, Group II (n = 16, were children who underwent an initial colostomy followed by delayed SSARP. There were no operative complications. The follow up ranged from 4 months to 18 months. Group I patients have symmetric anal contraction to stimulation and strong squeeze on digital rectal examination with an average number of bowel movements per day was 3–5. In group II the rate of excellent and good scores was 81% (13/16. All patients have an appropriate size anus and regular bowel actions. There has been no rectal prolapse, or anal stricture. EAS activity and perineal proprioception were preserved postoperatively. Follow up computed tomogram showed central placement the pull through bowel in between

  8. One stage correction of anorectal malformations in newborns

    Directory of Open Access Journals (Sweden)

    Makedonsky I.O.

    2015-06-01

    Full Text Available The retrospective analysis of case histories of 35 infants (19 boys, 16 girls, treated in the department of reconstructive surgery of Dnipropetrovsk center of mother and child health in the period 2008-2013 was done. All the patients underwent one-stage treatment of anorectal malformations in neonatal period. Surgery was performed in the first 48 hours of life. Body weight of infants ranged from 2,8 to 4,4 kg (average weight 3,2 kg. Among related conditions there were observed vesico-ureteral reflux (VUR – in 11 (31,4%, VATER association - in 6 (17.1%, malformations of the spine – in 18 (51,4%, of the heart – in 2 (5,7% . During cystoscopy fistula in the urinary system was revealed in 16 boys. Surgical treatment was carried out by the posterior sagittal anorectoplasty (PSARP by A.Pena. 2 patients additionally underwent laparotomy. Among 16 patients with fistula in the urinary system, prostatic urethra fistula was revealed in 14, bladder neck fistula – in 2. Children were discharged from the hospital 2 weeks after surgery. All the children re­ceived anti­biotics due to the presence of VUR. After 1 month after surgery VCUG was performed. Long-term results were studied for a period of 10 to 24 months. All patients had VUR without evidence of hydronephrosis. In the period of 3-6 months after surgery 2 patients presented anal stenosis due to violation of dilatation. The evaluation results in the late period (10-24 months after surgery noted the presence of normal stool 2-3 times a day, 3 children had periodic con­stipations treated by diet. Available merits of the described method: only one operation and general anesthesia is per­for­med, no risk of prolonged contamination by pathogenic flora of the urinary system through the fistula, potential risk of complications of laparotomy and colostomy decreases, fistula visualization in cystoscopy allows to avoid the X-ray.

  9. The MRI study of the sphincter muscle complex in congenital anorectal malformations

    International Nuclear Information System (INIS)

    Tang Shaotao; Mao Yongzhong; Wang Yong; Dong Ning; Ruan Qinglan; Peng Zhenjun; Kong Xiangquan; Liu Dingxi

    2007-01-01

    Objective: To evaluate the development of the sphincter muscle complex (SMC) and defecation function in pediatric patients with congenital anorectal malformations (ARM). Methods: A total of 64 children underwent MRI, among whom 39 were patients with ARM, and the others were patients without ARM undergoing MRI because of other dieases. The dimensions of the SMC in different planes were evaluated with different sequences and coils. The relationship between the SMC development and the defecation function was investigated. Results: In control group, the absolute value of SMC width was (3.63 ± 0.22)mm, which had a high correlation with age (r=0.998, P 0.05). The SMCs in intermediate ARM patients [muscle index (MI)=0.47 ± 0.05] and low ARM patients (MI=0.49 ± 0.05) were well developed. The SMCs in a portion of patients with high ARM (MI=0.28 ± 0.06) were poorly developed, when MI≤0.18, anorectal contraction pressure was significantly lower (t=3.55, P 0.18[(0.85 ± 0.20) vs (2.24 ± 1.02) kPa]. The length of anal canal with high-pressure[(10.88 ± 3.64) vs (20.26 ± 4.34)mm] was shorter (t= 5.18, P 0.18, the anorectal angle was less than 90 degrees, and normal continent function was found in 21 of 23 cases (91%). Conclusion: MRI can be employed to evaluate the development of SMC in patients with ARM, MI was an objective criteria to evaluate the development of SMC. When MI≤0.18, maldevelopment of SMC will be highly suspected. (authors)

  10. Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects

    NARCIS (Netherlands)

    Jonker, Jara E.; Liem, Eryn T.; Elzenga, Nynke J.; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M. A.

    2016-01-01

    Objective To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. Study design We included 129 patients with CARM born between 2004 and 2013, and

  11. Tethered cord in patients affected by anorectal malformations: a survey from the ARM-Net Consortium

    NARCIS (Netherlands)

    Fanjul, M.; Samuk, I.; Bagolan, P.; Leva, E.; Sloots, C.; Gine, C.; Aminoff, D.; Midrio, P.; Blaauw, I. de; Marcelis, C.L.M.; Rooij, I.A.L.M. van; Wester, T.; Zwink, N.

    2017-01-01

    PURPOSE: The goal of this study was to determine the degree of consensus in the management of spinal cord tethering (TC) in patients with anorectal malformation (ARM) in a large cohort of European pediatric centers. METHODS: A survey was sent to pediatric surgeons (one per center) members of the

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

    International Nuclear Information System (INIS)

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

    1986-01-01

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

  13. Dyssynergic defecation may aggravate constipation : results of mostly pediatric cases with congenital anorectal malformation

    NARCIS (Netherlands)

    van Meegdenburg, Maxime M.; Heineman, Erik; Broens, Paul M. A.

    BACKGROUND: Most patients with congenital anorectal malformation suffer from mild chronic constipation. To date, it is unclear why a subgroup of patients develops a persistent form of constipation. Because dyssynergic defecation is a common cause of constipation in the general population, we

  14. Predicting sexual problems in young adults with an anorectal malformation or Hirschsprung disease

    NARCIS (Netherlands)

    Witvliet, M.J.; Van Gasteren, S.; Van Den Hondel, D.; Hartman, E.E.; Van Heurn, L.W.E.; Van Der Steeg, A.F.W.

    2018-01-01

    AIM. The aim of this study was to examine the prevalence of sexual dysfunction and distress and to assess whether sexual functioning could be predicted by psychosocial factors in childhood and adolescence in patients with an anorectal malformation or Hirschsprung disease. MATERIAL AND METHODS. In

  15. Current management of anorectal malformation in Egypt: a survey of ...

    African Journals Online (AJOL)

    duplicate responses, yielding 82 survey charts for analysis. The 82 responses represent 74.5% of the 110 ... aDepartment of Pediatric Surgery, Qena University Hospital, Faculty of Medicine,. South Valley University, Qena and .... complex and improvement in rectal resting pressure and anorectal inhibitory reflex, which result ...

  16. 6-year-old girl with anorectal malformation: what is more important – anatomy or function?

    Directory of Open Access Journals (Sweden)

    Dmitry A. Morozov

    2018-02-01

    Full Text Available 6-year-old girl with first revealed anorectal malformation with perineal fistula was investigate. She did not have any complaints or history of constipation/soiling. Resting and squeeze anal pressure by anorectal manometry was normal. Recto-anal inhibitory reflex registered. There was no signs of dyssynergic defecation. The diameter of the colon by contrast enema was normal, megarectum did not detect, barium all came out after defecation. Muscles electro-identification confirmed external anal sphincter located posterior to the anus. After examination, council for Pediatric Surgery decided not to perform the surgery. Monitoring of the patient continued.

  17. The herbal medicine daikenchuto ameliorates an impaired anorectal motor activity in postoperative pediatric patients with an anorectal malformation--a pilot study.

    Science.gov (United States)

    Takagi, Akiko; Yagi, Minoru; Tanaka, Yoshiaki; Asagiri, Kimio; Asakawa, Takahiro; Tanaka, Hiroaki; Ishii, Shinji; Egami, Hideaki; Akaiwa, Masao; Tsuru, Tomomitsu

    2010-01-01

    Fecoflowmetry (FFM) has been introduced to simulate natural anorectal evacuation. So far, few reports have described the effect of the herbal medicine Daikenchuto (DKT) on impaired anorectal motor function. The aim of this pilot study was to assess anorectal motor function by FFM in postoperatively impaired patients with an anorectal malformation (ARM) before and after administration of DKT. Six postoperative patients with ARM (mean age, 7.8 years) who complained of intractable constipation with soiling in spite of administration of magnesia as a laxative were assessed over an extended period. These patients received 0.3 g/kg/d of DKT for an average of 128 days. Evacuative rate and maximum fecal stream flow were seen to increase significantly after administration of DKT when compared with values before administration of DKT. In conclusion, DKT had a favorable clinical effect on anorectal motor function in postoperative patients with ARM.

  18. De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations

    NARCIS (Netherlands)

    Dworschak, G.C.; Draaken, M.; Marcelis, C.; Blaauw, I. de; Pfundt, R.P.; Rooij, I.A.L.M. van; Bartels, E.; Hilger, A.; Jenetzky, E.; Schmiedeke, E.; Grasshoff-Derr, S.; Schmidt, D.; Marzheuser, S.; Hosie, S.; Weih, S.; Holland-Cunz, S.; Palta, M.; Leonhardt, J.; Schafer, M.; Kujath, C.; Rissmann, A.; Nothen, M.M.; Zwink, N.; Ludwig, M.; Reutter, H.

    2013-01-01

    Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects

  19. New concepts in preoperative imaging of anorectal malformation

    International Nuclear Information System (INIS)

    Taccone, A.; Delliacqua, A.; Marzoli, A.; Martucciello, G.; Jasonni, V.; Dodero, P.; Salomone, G.

    1992-01-01

    In this study of 14 patients with anorectal anomalies CT and MRI were employed for preoperative assessment. The use of a pressure enhanced water soluble enema via the colostomy proved to be an extremely efficient method for showing a fistula. MRI studies were enhanced by the use of vaseline oil and in one case this technique was used prior to surgery to provide important information by injecting through a perineal fistula. CT and axial MRI proved to be more valuable than sagittal MRI which is only useful for the length of the atretic segment. The authors consider that a combined approach using pressure enhanced water soluble enema and MRI will provide the most valuable preoperative information to plan a successful operative approach and enable an accurate prognostic evaluation of continence in these difficult and complex patients. (orig.)

  20. PP-4 ANORECTAL MALFORMATIONS: MOTILITY STUDIES AND RESPONSE TO BIOFEEDBACK THERAPY.

    Science.gov (United States)

    Bigliardi, Roman N; Ditaranto, A; Reynoso, R; Vidal, J H; Messere, G; Toca, M; Silvestri, G; Ortiz, G; Noriega, S; Varela, A

    2015-10-01

    Anorectal malformations (ARM) are infrequent anatomic defects with a prevalence of 1 each 5000 alive newborns. Most of the patients repaired of this illness have some degree of constipation or fecal incontinence. There are few reports about manometric studies and biofeedback treatment in patients with anorectal malformations. To evaluate of our population's anorectal functionality late after surgery by anorectal manometry; To study the response to diet, toilet training, and/or biofeedback. Anorectal manometry was done in 39 patients with ARM and 35 of them received combinated treatment of diet, toilet training and biofeedback. Age: 6 to 17 years old. Mean age: 8.05 years. Descriptive study. From april 2004 to april 2015. 14 patients had high malformations(36%), 18 had low malformations(46%) and 7 had cloaca(18%). children over 6 years of age with anorectal malformation operated using Peña's technique (postsagittal anorectoplasty). patients with neurological disorders that do not non-compliant with study and treatment indications. Average resting pressure was 28 mmHg(High level 25,5 and Low level 29,8 mmHg), range between 7 and 51 mmHg. Squeezing pressure between 29 and 120 mmHg(mean:69mmHg). Combined treatment of diet, toilet training, and biofeedback was succesfull to get total continence in 22 patients (4 cloacas, 10 high malformations and 8 low malformations), partial continence in 6(all low) and without response in 3(1 low, 1 high and 1 cloaca); 2 patients archived continence only with toilet training and 2 were lost in follow up(T.Fisher: 0,1). In high ARM 8 had positive(+) rectoanal inhibitory reflex(RAIR) and 6 negative(¬). In cloacas it was (+) in 3, (¬) in 3 and doubtful in 1. In low ARM 15(+), 2 (¬) and 1 doubtful. Reflex was obtained with 20 to 60cc of air(mean 31,36). The RRAI duration was 10 to 17 seconds(mean: 13 seconds).From 22 total continent, RAIR was (+) in 13, (¬) in 7 and hazardous in 2. All 6 partially continent had (+) RAIR; and from 3

  1. Manometric findings in relation to functional outcomes in different types of anorectal malformations.

    Science.gov (United States)

    Kyrklund, Kristiina; Pakarinen, Mikko P; Rintala, Risto J

    2017-04-01

    To compare anorectal manometry (AM) in patients with different types of anorectal malformations (ARMs) in relation to functional outcomes. A single-institution, cross-sectional study. After ethical approval, all patients ≥7years old treated for anterior anus (AA), perineal fistula (PF), vestibular fistula (VF), or rectourethral fistula (RUF) from 1983 onwards were invited to answer the Rintala bowel function score (BFS) questionnaire and to attend anorectal manometry (AM). Patients with mild ARMs (AA females and PF males) had been treated with minimally invasive perineal procedures. Females with VF/PF and males with RUF had undergone internal-sphincter saving sagittal repairs. 55 of 132 respondents (42%; median age 12 (7-29) years; 42% male) underwent AM. Patients with mild ARMs displayed good anorectal function after minimally invasive treatments. The median anal resting and squeeze pressures among patients with mild ARMs (60 cm H2O and 116 cm H2O respectively) were significantly higher than among patients with more severe ARMs (50 cm H2O, and 80cm H2O respectively; p≤0.002). The rectoanal inhibitory reflex was preserved in 100% of mild ARMs and 83% of patients with more severe malformations after IAS-saving sagittal repair. The functional outcome was poor in 4/5 patients with an absent RAIR (BFS≤11 or antegrade continence enema-dependence). Rectal sensation correlated significantly with the BFS. Our findings support the appropriateness of our minimally invasive approaches to the management of mild ARMs, and IAS-saving anatomical repairs for patients with more severe malformations. III. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. Functional Outcome of Anorectal Malformations and Associated Anomalies in Era of Krickenbeck Classification

    International Nuclear Information System (INIS)

    Qazi, S. H.; Faruque, A. V.; Khan, M. A. M.

    2016-01-01

    Objective: To describe the management and functional outcome of anorectal malformations and associated anomalies according to Krickenbeck classification. Study Design: Case series. Place and Duration of Study: The Aga Khan University Hospital, Karachi, from January 2002 to December 2012. Methodology: Anorectal anomalies were classified according to Krickenbeck classification. Data was collected and proforma used regarding the primary disease associated anomalies, its management and functional outcome, according to Krickenbeck classification. Cases included were: all those children with imperforate anus managed during the study period. Qualitative variables like gender and functional outcome were reported as frequencies and percentages. Quantitative variables like age were reported as medians with interquartile ranges. Results: There were 84 children in study group. Most common associated anomaly was cardiac (38 percent), followed by urological anomaly (33 percent). All children were treated by Posterior Sagittal Anorectoplasty (PSARP). Fistula was present in 64 out of 84 (76 percent) cases. The most common fistula was rectourethral (33 percent), followed by recto vestibular (31 percent). According to Krickenbeck classification, continence was achieved in 62 percent children; however 27 percent children were constipated, followed by 12 percent children having fecal soiling. Conclusion: Functional outcome of anorectal malformation depends upon severity of disease. A thorough evaluation of all infants with ARM should be done with particular focus on cardiovascular (38 percent) and genitourinary abnormalities (33 percent). (author)

  3. MRI findings in patients with defecatory dysfunction after surgical correction of anorectal malformation

    International Nuclear Information System (INIS)

    Cui, Yong; Shao, Guang-rui; Wang, Ruo-yi; Zhang, Yuan; Zhang, Shu-hui

    2013-01-01

    Postoperative anorectal malformation patients frequently have defecatory dysfunction. MRI may be useful in the management of these patients. To analyze static and dynamic MRI findings in patients with defecatory dysfunction after correction of anorectal malformation (ARM), and compare differences between patients with constipation and fecal incontinence. Pelvic MRI studies of 20 constipated and 32 incontinent postoperative ARM patients were analyzed retrospectively to determine the location and morphology of the neorectum, presence of peritoneal fat herniation, presence of scarring, development of the striated muscle complex (SMC) and any other abnormalities. The two groups were then compared using χ 2 -test. Eighteen patients also underwent MRI defecography to evaluate pelvic floor function and abnormalities are reported. The children with incontinence were more likely to have abnormal location of the neorectum (P = 0.031), increased anorectal angle (ARA) (P = 0.031) and peritoneal fat herniation (P = 0.032), and less likely to have dilation of the neorectum (P = 0.027), than the children with constipation. There were no significant differences between the two groups in incidence of focal stenosis of the neorectum (P = 0.797), presence of extensive scarring (P = 0.591) and developmental agenesis of the SMC (P > 0.05). MRI defecography showed 6 anterior rectoceles, 6 cystoceles and 18 pelvic floor descents. MRI is a helpful imaging modality in postoperative ARM patients with defecatory dysfunction, and it shows distinct differences between the children with constipation and incontinence and provides individualized information to guide further treatment. (orig.)

  4. MRI findings in patients with defecatory dysfunction after surgical correction of anorectal malformation

    Energy Technology Data Exchange (ETDEWEB)

    Cui, Yong; Shao, Guang-rui [Second Hospital of Shandong University, Department of Radiology, Jinan (China); Wang, Ruo-yi [Second Hospital of Shandong University, Department of Pediatric Surgery, Jinan (China); Zhang, Yuan [Second Hospital of Shandong University, Evidence-based Medical Center, Jinan (China); Zhang, Shu-hui [Second Hospital of Shandong University, Department of Laboratory, Jinan (China)

    2013-08-15

    Postoperative anorectal malformation patients frequently have defecatory dysfunction. MRI may be useful in the management of these patients. To analyze static and dynamic MRI findings in patients with defecatory dysfunction after correction of anorectal malformation (ARM), and compare differences between patients with constipation and fecal incontinence. Pelvic MRI studies of 20 constipated and 32 incontinent postoperative ARM patients were analyzed retrospectively to determine the location and morphology of the neorectum, presence of peritoneal fat herniation, presence of scarring, development of the striated muscle complex (SMC) and any other abnormalities. The two groups were then compared using {chi} {sup 2}-test. Eighteen patients also underwent MRI defecography to evaluate pelvic floor function and abnormalities are reported. The children with incontinence were more likely to have abnormal location of the neorectum (P = 0.031), increased anorectal angle (ARA) (P = 0.031) and peritoneal fat herniation (P = 0.032), and less likely to have dilation of the neorectum (P = 0.027), than the children with constipation. There were no significant differences between the two groups in incidence of focal stenosis of the neorectum (P = 0.797), presence of extensive scarring (P = 0.591) and developmental agenesis of the SMC (P > 0.05). MRI defecography showed 6 anterior rectoceles, 6 cystoceles and 18 pelvic floor descents. MRI is a helpful imaging modality in postoperative ARM patients with defecatory dysfunction, and it shows distinct differences between the children with constipation and incontinence and provides individualized information to guide further treatment. (orig.)

  5. Management of anorectal malformation: Changing trend over two decades in Zaria, Nigeria

    Directory of Open Access Journals (Sweden)

    Lukong C

    2011-01-01

    Full Text Available Background: Anorectal malformation is a common congenital defect and its management has evolved over the years. This is a review of the trend in the management of this condition in a major paediatric surgical centre in Nigeria over two decades. Materials and Methods: A retrospective analysis of 295 patients with anorectal malformations managed from January 1988 to December 2007 was carried out. Results: There were 188 boys and 107 girls aged 1 day-9 years (median 8 years at presentation. There were 73 (54.5% and 106 (65.8% emergency operations in groups A and B, respectively. There were 61 (45.5% and 55 (34.2% elective operations in groups A and B, respectively. Regarding treatment, in group A, patients requiring colostomy had transverse loop colostomy, while in group B, sigmoid (usually divided colostomy was preferred. The definitive surgery done during the two periods were: group A: cutback anoplasty 29 (47.5%, anal transplant 5 (8.2%, sacroabdominoperineal pullthrough (Stephen′s operation 6 (9.5% and others 21 (34.4%. In group B, posterior sagittal anorectoplasty (PSARP 46 (83.7%, anal transplant 1 (1.8%, posterior sagittal anorectovaginourethroplasty (PSARVUP 2 (3.6% and anal dilatation 6 (10.9% were done. Early colostomy-related complication rates were similar in the two groups (P > 0.05. The overall late complication rate was 65.5% in group A and 16.4% in group B (P < 0.05. The mortality was 25 (18.6% in group A compared to 17 (10.6% in group B (P < 0.05. Conclusion: There have been significant changes in the management of anorectal malformations in this centre in the last two decades, resulting in improved outcomes.

  6. MRI detection of posterior urethral diverticulum following surgical repair of anorectal malformations

    Directory of Open Access Journals (Sweden)

    Ishan Kumar

    2017-09-01

    Full Text Available Aim: To identify and to assess imaging and clinical features of Posterior urethral diverticula (PUD in a single-centre series and include a brief review of literature. Materials and method: Post operative MRI of 140 children from north India were retrospectively reviewed who underwent surgical repair for anorectal malformation (ARM along with the Hospital records. Results: Ten cases had MRI features of posterior urethral diverticulum. All of these patients had undergone primary abdominoperineal pull through (APPT procedure. The lesions ranged between 6 mm and 38 mm in size. Two of these lesions were missed in the post operative MRI report. Only one of these patients was symptomatic and presented with dribbling of urine and gross bilateral vesicoureteric reflux in which the diverticulum was excised surgically. Conclusion: PUD is an under-recognised entity and can be identified in preclinical stage on MRI. Careful assessment of urethra and periurethral structures should be a mandatory step in MRI evaluation of post repair ARM cases. An observational conservative approach in selected asymptomatic patients can be an effective management strategy. Keywords: Posterior urethral diverticulum, MRI, Anorectal malformation

  7. Two-Port Laparoscopic Descending Colostomy with Separated Stomas for Anorectal Malformations in Newborns.

    Science.gov (United States)

    Gine, Carlos; Santiago, Saioa; Lara, Alba; Laín, Ana; Lane, Victoria Alison; Wood, Richard J; Levitt, Marc

    2016-10-01

    Introduction  We describe a two-port laparoscopic technique to create a colostomy in the descending colon with separated stomas for newborns with anorectal malformations. Material and Methods  Six patients with an anorectal malformation underwent this procedure in the early-neonatal period. The surgical technique was performed with two ports, which allows for an accurate inspection of the abdominal contents. The first loop of the sigmoid colon is grasped through the first port and exteriorized while the attachments to the left retroperitoneum and direction of the loop are checked with the scope introduced in the second port. The division of the colon is performed extracorporally, the colon irrigated of meconium, and the distal colon moved to the second port incision. Both stomas are then fixed to the abdominal wall. Results  The time of the procedure ranged from 50 to 90 minutes. A Mullerian duplication was noted in one case. Oral intake was started during the first 12 to 24 hours. No complications were seen during or after the procedure. Conclusions  This technique allows for the precise localization of the colostomy with direct visualization, provides for the inspection of the internal genitalia, eliminates the incision between the two stomas and its complications, allows for painless stoma bag changes immediately after surgery, avoids twisting of the colostomy, and permits a cosmetically pleasing incision at the colostomy closure. Georg Thieme Verlag KG Stuttgart · New York.

  8. A review of genetic factors contributing to the etiopathogenesis of anorectal malformations.

    Science.gov (United States)

    Khanna, Kashish; Sharma, Shilpa; Pabalan, Noel; Singh, Neetu; Gupta, D K

    2018-01-01

    Anorectal malformation (ARM) is a common congenital anomaly with a wide clinical spectrum. Recently, many genetic and molecular studies have been conducted worldwide highlighting the contribution of genetic factors in its etiology. We summarize the current literature on such genetic factors. Literature search was done using different combinations of terms related to genetics in anorectal malformations. From 2012 to June 2017, articles published in the English literature and studies conducted on human population were included. A paradigm shift was observed from the earlier studies concentrating on genetic aberrations in specific pathways to genome wide arrays exploring single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) in ARM patients. Rare CNVs (including 79 genes) and SNPs have been found to genetically contribute to ARM. Out of disrupted 79 genes one such putative gene is DKK4. Down regulation of CDX-1 gene has also been implicated in isolated ARM patients. In syndromic ARM de novo microdeletion at 17q12 and a few others have been identified. Major genetic aberrations proposed in the pathogenesis of ARM affect members of the Wnt, Hox (homebox) genes, Sonic hedgehog (Shh) and Gli2, Bmp4, Fgf and CDX1 signalling pathways; probable targets of future molecular gene therapy.

  9. Two-stage laparoscopic approaches for high anorectal malformation: transumbilical colostomy and anorectoplasty.

    Science.gov (United States)

    Yang, Li; Tang, Shao-Tao; Li, Shuai; Aubdoollah, T H; Cao, Guo-Qing; Lei, Hai-Yan; Wang, Xin-Xing

    2014-11-01

    Trans-umbilical colostomy (TUC) has been previously created in patients with Hirschsprung's disease and intermediate anorectal malformation (ARM), but not in patients with high-ARM. The purposes of this study were to assess the feasibility, safety, complications and cosmetic results of TUC in a divided fashion, and subsequently stoma closure and laparoscopic assisted anorectoplasty (LAARP) were simultaneously completed by using the colostomy site for a laparoscopic port in high-ARM patients. Twenty male patients with high-ARMs were chosen for this two-stage procedure. The first-stage consisted of creating the TUC in double-barreled fashion colostomy with a high chimney at the umbilicus, and the loop was divided at the same time, in such a way that the two diverting ends were located at the umbilical incision with the distal end half closed and slightly higher than proximal end. In the second-stage, 3 to 7 months later, the stoma was closed through a peristomal skin incision followed by end-to-end anastomosis and simultaneously LAARP was performed by placing a laparoscopic port at the umbilicus, which was previously the colonostomy site. Umbilical wound closure was performed in a semi-opened fashion to create a deep umbilicus. TUC and LAARP were successfully performed in 20 patients. Four cases with bladder neck fistulas and 16 cases with prostatic urethra fistulas were found. Postoperative complications were rectal mucosal prolapsed in three cases, anal stricture in two cases and wound dehiscence in one case. Neither umbilical ring narrowing, parastomal hernia nor obstructive symptoms was observed. Neither umbilical nor perineal wound infection was observed. Stoma care was easily carried-out by attaching stoma bag. Healing of umbilical wounds after the second-stage was excellent. Early functional stooling outcome were satisfactory. The umbilicus may be an alternative stoma site for double-barreled colostomy in high-ARM patients. The two-stage laparoscopic

  10. Prospective long-term follow up of children with anorectal malformation: growth and development until 5years of age.

    Science.gov (United States)

    van den Hondel, Desiree; Sloots, Cornelius E J; Gischler, Saskia J; Meeussen, Conny J H M; Wijnen, Rene M H; IJsselstijn, Hanneke

    2013-04-01

    To evaluate growth and development in children with anorectal malformations and to analyze effects of type of malformation and comorbidities. Non-syndromal children with anorectal malformations were prospectively evaluated at 0.5, 1, 2, and 5 years. Biometrics were obtained at all visits. Mental and psychomotor function development was determined. 108 children (59% male) were included. 49% had a high malformation, and 46% had ≥ 1 additional major comorbidity. All growth parameters were below the norm at all ages (pChildren with ≥ 1 additional major anomaly had lower height at all ages; at 5 years, mean (95% CI) height was -1.83 (-2.7 to -1.1) and -0.70 (-1.3 to -0.1) in children with and without comorbidities, respectively (p=0.019). Mental development was normal, irrespective of the type of malformation or comorbidities. Motor development was delayed at all ages. At 5 years, motor development (n=30) was normal in 70%, borderline in 23%, and 7% had definitive motor problems (p=0.043). Non-syndromal children with anorectal malformations are at risk for growth impairment, especially those with additional major comorbidity. Mental development is normal. Motor development is slightly impaired. Supportive care should focus on growth, dietary management, and motor development besides defecation problems. Copyright © 2013 Elsevier Inc. All rights reserved.

  11. Anterior or posterior sagittal anorectoplasty without colostomy for low-type anorectal malformation: how to get a better outcome?

    NARCIS (Netherlands)

    Kuijper, Caroline F.; Aronson, Daniel C.

    2010-01-01

    Background/Purpose: Usually, anorectal malformations (ARM) are treated in 2 or 3 stages for fear of disturbed wound healing and subsequent damage to the anal sphincter complex. The aim of this study was to assess the feasibility, safety, advantages, and follow-up of an anterior or posterior sagittal

  12. Anterior or posterior sagittal anorectoplasty without colostomy for low-type anorectal malformation: how to get a better outcome?

    NARCIS (Netherlands)

    Kuijper, C.F.; Aronson, D.C.

    2010-01-01

    BACKGROUND/PURPOSE: Usually, anorectal malformations (ARM) are treated in 2 or 3 stages for fear of disturbed wound healing and subsequent damage to the anal sphincter complex. The aim of this study was to assess the feasibility, safety, advantages, and follow-up of an anterior or posterior sagittal

  13. Quality of life in patients with anorectal malformation or Hirschsprung's disease: development of a disease-specific questionnaire

    NARCIS (Netherlands)

    Hanneman, M. J.; Sprangers, M. A.; de Mik, E. L.; Ernest van Heurn, L. W.; de Langen, Z. J.; Looyaard, N.; Madern, G. C.; Rieu, P. N.; van der Zee, D. C.; van Silfhout, M.; Aronson, D. C.

    2001-01-01

    PURPOSE: Hirschsprung's disease and anorectal malformation are congenital diseases of the digestive tract with sequelae into adulthood. The quality of life of patients with these diseases is largely unknown. The aim of the study was 1) to construct a self-report disease-specific instrument to assess

  14. Sexual function in adults with anorectal malformation: psychosocial adaptation. German Network for Congenital Uro-REctal Malformations (CURE-Net).

    Science.gov (United States)

    Schmidt, Dominik; Winter, Sibylle; Jenetzky, Ekkehart; Zwink, Nadine; Schmiedeke, Eberhard; Maerzheuser, Stefanie

    2012-08-01

    The aim of the German Network for Congenital Uro-REctal Malformations (CURE-Net) is to collect data of affected patients with anorectal malformation (ARM) to investigate molecular causes, clinical implications and psychosocial outcome. The current issue was to examine sexual function and to explore psychosocial adaptation in adults with ARM. This qualitative study using narrative inquiry is part of a larger multi-center study of clinical queries and quality of life in patients with ARM. The guided interview focused on analysis of sexual function. 55 adult patients with ARM (23 females, 32 males, median age 23 years, range from 18 to 56 years) were investigated via standardized case-report forms comprising interview, analysis of medical data and personal questionnaires. In the female patients, 8 (35 %) of them lived alone and 15 (65 %) had sexual intercourse. In the male patients, the majority of 20 (69 %) patients lived alone and 13 (45 %) had sexual intercourse. 6 of the females got pregnant, 5 got 2 or more children. 3 of the men induced 2 or more pregnancies and fathered children. Besides reconstructing the ARM, another main goal is the preservation of sexual function. According to our data, there seems to be a close relationship between psychosocial development and sexual activity.

  15. [Research progress in genetic abnormalities and etiological factors of congenital anorectal malformation].

    Science.gov (United States)

    Zhang, Yanli; Ren, Hongxia

    2016-01-01

    Congenital anorectal malformation (ARM) is one of the most common gastrointestinal congenital diseases, accounting for 1/4 in digestive tract malformation, and is one of the congenital malformations in routine surveillance by the World Health Organization. Because of the variety of risk factors and the complexity of the pathological changes, etiology of ARM is still not clear. It is mostly considered that ARM is resulted from hereditary factors and environmental factors in the development of embryogenesis. Through animal experiments, scholars have found that Hox, Shh, Fgf, Wnt, Cdx and TCF4, Eph and ephrin play crucial role during the development of digestive tract. When the genes/signaling pathway dysfunction occurs, ARM may happen. In addition, ARM is related to the external factors in pregnancy. Because of the complexity of related factors in the development of human embryogenesis, the research progress of human ARM is very slow. This paper reviews relevant literatures in genetic factors and environmental factors, in order to provide the theoretical basis for the treatment and prevention of ARM.

  16. [Relationship of Ghrelin gene polymorphism with congenital anorectal malformation and Hirschsprung disease].

    Science.gov (United States)

    Gao, Hong; Wang, Dajia; Zhao, Xiangxuan; Mi, Jie; Bai, Yuzuo; Wang, Weilin

    2015-07-01

    To explore the relationship of Ghrelin gene polymorphism with the occurrence of human anorectal malformations (ARMs) and Hirschsprung disease(HSCR). PCR and DNA sequencing were used to detect the single nucleotide polymorphism (SNPs) of 3 loci (rs139684563, rs149447194, rs186599567) genotype of Ghrelin gene in 100 children with ARMs, 100 children with HSCR, and 100 healthy children (normal group). Genovariation and gene mutation were analyzed with case-control method. Three loci SNPs were in accordance with Hardy-Weinberg genetic equilibrium. No significant differences were found in rs139684563 allele and genotype frequencies between the cases and the normal groups (P>0.05). The allele and genotype frequencies of rs149447194 and rs186599567 were significantly different between cases and normal group (Ppolymorphism changes may be associated with the pathogenesis of ARMs and HSCR.

  17. Comparison of trans-perineal ultrasound-guided pressure augmented saline colostomy distension study and conventional contrast radiographic colostography in children with anorectal malformation.

    Science.gov (United States)

    Ekwunife, Okechukwu Hyginus; Umeh, Eric Okechukwu; Ugwu, Jideofor Okechukwu; Ebubedike, Uzoamaka Rufina; Okoli, Chinedu Christian; Modekwe, Victor Ifeanyichukwu; Elendu, Kelechi Collins

    2016-01-01

    In children with high and intermediate anorectal malformation, distal colostography is an important investigation done to determine the relationship between the position of the rectal pouch and the probable site of the neo-anus as well as the presence or absence of a fistula. Conventionally, this is done using contrast with fluoroscopy or still X-ray imaging. This, however, has the challenges of irradiation, availability and affordability, especially in developing countries. This study compared the accuracy of trans-perineal ultrasound-guided pressure augmented saline colostomy distension study (SCDS) with conventional contrast distal colostography (CCDC) in the determination of the precise location of the distal rectal pouch and in detecting the presence and site of fistulous communication between the rectum and the urogenital tract was studied. Trans-perineal ultrasound-guided pressure augmented SCDS, CCDC and intra-operative measurements were done sequentially for qualified infants with anorectal malformation and colostomy. Pouch skin distance and presence or absence of recto urinary or genital fistula was measured prospectively in each case. Statistical significance was inferred at P-value of 0.01. On its ability to detect presence or absence of a fistula: SCDS had a sensitivity of 50.0%, specificity of 100.0%, accuracy of 69.2%, negative predictive value of fistulas of 55.6% and a positive predictive value of fistulas of 100.0%. Ultrasound-guided pressure augmented SCDS can safely and reliably be used to assess the distal colonic anatomy and the presence of fistula in infants with Anorectal malformation who are on colostomy.

  18. Urethral diverticulum after laparoscopically-assisted anorectal pull-through (LAARP) for anorectal malformation: is resection of the diverticulum always necessary?

    Science.gov (United States)

    López, Pedro José; Guelfand, Miguel; Angel, Lorena; Paulos, Angélica; Cadena, Yair; Escala, José M; Letelier, Nelly; Zubieta, Ricardo

    2010-05-01

    With the increased use of minimally invasive surgery, the urethral diverticulum after anorectal surgery has become an issue. The few cases reported have been managed by surgical excision. We hereby report a case of urethral diverticulum after a laparoscopically-assisted anorectal pull-through (LAARP)procedure with a successful outcome after a period of active surveillance. A full-term boy who displayed a high anorectal malformation (ARM) and a rectoprostatic fistula underwent colostomy on the first day. He also showed associated malformations: bilateral low-grade reflux, horseshoe kidney and thoracic hemivertebrae; however, there were no signs of spinal cord tethering. Antimicrobial prophylaxis was started. At the age of 3 months, he underwent a LAARP with a 3 abdominal-port approach. After complete dissection of the distal bowel, the recto-prostatic fistula was identified and tied with metallic clips. A 10 mm trocar was inserted through the centre of the sphincteric complex, which had been previously identified under laparoscopic view during perineal electrical stimulation. The anorectal pull-through was accomplished without tension. The bladder remained stented for 14 days. On the 18th postoperative day, a voiding cystourethrogram (VCUG) showed a 15 X 5 mm image of the diverticulum at the level of the membranous urethra. After 6 months, a new VCUG showed a normal urethra with neither signs of the diverticulum nor strictures; persistence of grade 2 reflux on the right side and resolution of the reflux on the left. When the boy was one year old his colostomy was closed uneventfully. Six months later he had not come into the emergency since the operation and voided with a normal flow. This report suggests that LAARP is a feasible approach for ARM, although urethral diverticulum is a major concern. It may evolve without complications, and eventually resolve spontaneously. Active surveillance might be an option in selected asymptomatic patients; however a longer

  19. Complete Familial Currarino Triad in Association with Hirschsprung's Disease: Magnetic Resonance Imaging Features and the Spectrum of Anorectal Malformations

    Energy Technology Data Exchange (ETDEWEB)

    Kilickesmez, O.; Hakki Gol, I.; Uzun, M.; Oruk, C. [Diyarbakir Military Hospital (Turkey). Dept. of Radiology

    2006-07-15

    Currarino syndrome, a rare hereditary condition, is defined as a partial sacral agenesis associated with a presacral mass and anorectal malformation. The authors present two siblings with complete Currarino triad and their mother with incomplete triad. The complete Currarino triad in the older sibling was associated with Hirschsprung's disease as the second reported case in the literature. Anorectal malformations, whether suspected of Currarino syndrome or not, should be examined with lumbosacral magnetic resonance imaging.

  20. Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study.

    Science.gov (United States)

    Zwink, Nadine; Jenetzky, Ekkehart; Schmiedeke, Eberhard; Schmidt, Dominik; Märzheuser, Stefanie; Grasshoff-Derr, Sabine; Holland-Cunz, Stefan; Weih, Sandra; Hosie, Stuart; Reifferscheid, Peter; Ameis, Helen; Kujath, Christina; Rissmann, Anke; Obermayr, Florian; Schwarzer, Nicole; Bartels, Enrika; Reutter, Heiko; Brenner, Hermann

    2012-09-15

    The use of assisted reproductive techniques (ART) for treatment of infertility is increasing rapidly worldwide. However, various health effects have been reported including a higher risk of congenital malformations. Therefore, we assessed the risk of anorectal malformations (ARM) after in-vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Data of the German Network for Congenital Uro-REctal malformations (CURE-Net) were compared to nationwide data of the German IVF register and the Federal Statistical Office (DESTATIS). Odds ratios (95% confidence intervals) were determined to quantify associations using multivariable logistic regression accounting for potential confounding or interaction by plurality of births. In total, 295 ARM patients born between 1997 and 2011 in Germany, who were recruited through participating pediatric surgeries from all over Germany and the German self-help organisation SoMA, were included. Controls were all German live-births (n = 10,069,986) born between 1997 and 2010. Overall, 30 cases (10%) and 129,982 controls (1%) were born after IVF or ICSI, which translates to an odds ratio (95% confidence interval) of 8.7 (5.9-12.6) between ART and ARM in bivariate analyses. Separate analyses showed a significantly increased risk for ARM after IVF (OR, 10.9; 95% CI, 6.2-19.0; P risk for ARM among children born after ART. Elevations of risk were seen after both IVF and ICSI. Further, separate analyses of patients with isolated ARM, ARM with associated anomalies and those with a VATER/VACTERL association showed increased risks in each group. An increased risk of ARM was also seen among both singletons and multiple births.

  1. Neonatal posterior sagittal anorectoplasty for a subset of males with high anorectal malformations

    Directory of Open Access Journals (Sweden)

    Nilesh G Nagdeve

    2011-01-01

    Full Text Available Aim: To assess the results of primary posterior sagittal anorectoplasty (PSARP in male neonates with high anorectal malformations (ARM who on invertogram showed well descended rectum. Materials and Methods: Twelve full-term male neonates with high ARM over a period of one and half years were selected for primary PSARP based on the findings of invertogram. Primary PSARP was performed in all neonates with lower limit of rectal gas bubble at or below the ossified fifth sacral vertebra. The patients were followed-up for a period between three to four and half years. The clinical evaluation of fecal continence was performed using Pena′s criteria for assessment of continence. Results: All neonates underwent PSARP on second to fourth postnatal day. The fistula with urinary tract was found in 11 patients (seven had fistula to bulbar urethra and four to prostatic urethra. Rectal tapering was not required in any neonate. No patient had urinary problems after removal of catheter. Most of the neonates were discharged by ninth day. Postoperatively, two patients had superficial wound infection of anoplasty without any disruption or bowel retraction. Two patients had severe perianal excoriation. No patient had anorectal stenosis. Nine of twelve patients on follow-up had good voluntary bowel movements. Of the three patients who had grade I soiling two had recto-prostatic urethral fistula. No patient had constipation. All patients had good urinary stream. Conclusions: Repair of high ARM in male neonates with a well descended rectum is feasible without significant morbidity and good continence.

  2. Effectiveness of senna vs polyethylene glycol as laxative therapy in children with constipation related to anorectal malformation.

    Science.gov (United States)

    Santos-Jasso, Karla Alejandra; Arredondo-García, José Luis; Maza-Vallejos, Jorge; Lezama-Del Valle, Pablo

    2017-01-01

    Constipation is present in 80% of children with corrected anorectal malformations, usually associated to rectal dilation and hypomotility. Osmotic laxatives are routinely used for idiopathic constipation. Senna is a stimulant laxative that produces contractions improving colonic motility without affecting the stool consistency. We designed this trial to study the effectiveness of Senna versus polyethylene glycol for the treatment of constipation in children with anorectal malformation. A randomized controlled crossover design clinical trial, including a washout period, was conducted, including children with corrected anorectal malformations with fecal continence and constipation. The sample size was calculated for proportions (n=28) according to available data for Senna. Effectiveness of laxative therapy was measured with a three variable construct: 1) daily bowel movement, 2) fecal soiling, 3) a "clean" abdominal x-ray. Data analysis included descriptive statistics and a Fisher's exact test for the outcome variable (effectiveness). The study was terminated early because the interim analysis showed a clear benefit toward Senna (p = 0.026). The sample showed a normal statistical distribution for the variables age and presence of megarectum. The maximum daily dose of Senna (sennosides A and B) was 38.7mg and 17g for polyethylene glycol. No adverse effects were identified. Therapy with Senna should be the laxative treatment of choice as part of a bowel management program in children with repaired anorectal malformations and constipation, since the stimulation of colonic propulsion waves could lead to stool evacuation without modification of its consistency which can affect fecal continence. I - randomized controlled trial with adequate statistical power. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects.

    Science.gov (United States)

    Jonker, Jara E; Liem, Eryn T; Elzenga, Nynke J; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M A

    2016-12-01

    To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major. Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs. The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Effectiveness of the bowel management program in children with constipation secondary to anorectal malformations

    Directory of Open Access Journals (Sweden)

    Santos Jasso Karla A.

    2014-07-01

    Full Text Available Introduction: One thousand children with anorectal malformation (ARM are born in Mexico every year. In spite of surgical correction, these children continue to present functional fecal problems (constipation and fecal incontinence. We conducted an Intestinal Rehabilitation Program (IRP which consists of an initial rectal disimpaction followed by administration of stimulant-type laxative (senna, with favorable results. The objective of this paper is to describe the effectiveness of the Intestinal Rehabilitation Program/bowel management program (IRP/BMP in children with constipation secondary to surgically corrected ARM. Materials and methods: A descriptive, retrospective, cross-sectional study, describing which was the IRP effectiveness in children with constipation secondary to ARM. The effectiveness was measured by means of a construct of three variables (presence of daily bowel movements, absence of fecal staining, and having a plain abdominal radiograph without fecal residue in left colon and rectum after passing stool. All children who had surgically corrected ARM and constipation in two referral centers were included. Results. One hundred and fifty one children with ARM were included: 21.85% had fecal incontinence, and 67.33% had constipation. Of this group 88.1% showed good response to the BMP. The mean dose of sennoside was 8.45 mg/kg, 95% CI: 5.94-11.12 mg/kg (199.5 mg total dose, 95% CI: 139.50-259.50 mg. Colicky abdominal pain occurred in 5.8% of the patients. Discussion. The use of sennoside has had a positive impact on our patients by means of colonic and rectal emptying without fecal soiling. Key words: Constipation, Anorrectal Malformation, Bowel Managment Program, Sennoside.

  5. MRI of acquired posterior urethral diverticulum following surgery for anorectal malformations

    Energy Technology Data Exchange (ETDEWEB)

    Podberesky, Daniel J.; Anton, Christopher G. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Weaver, Nicholas C. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Vanderbilt University, Nashville, TN (United States); Lawal, Taiwo [Cincinnati Children' s Hospital Medical Center, Department of Surgery, Cincinnati, OH (United States); University College Hospital, Department of Surgery, Ibadan (Nigeria); Hamrick, Miller C.; Pena, Alberto; Levitt, Marc A. [Cincinnati Children' s Hospital Medical Center, Department of Surgery, Cincinnati, OH (United States); Alam, Shumyle [Cincinnati Children' s Hospital Medical Center, Department of Urology, Cincinnati, OH (United States)

    2011-09-15

    Posterior urethral diverticulum (PUD) is one of the most common postoperative complications associated with anorectal malformation (ARM) correction. To describe our MRI protocol for evaluating acquired PUD following ARM surgery, and associated imaging findings. Two radiologists retrospectively reviewed 61 pelvic MRI examinations performed for postoperative ARM for PUD identification and characteristics. Associated clinical, operative and cystoscopy reports were also reviewed and compared to MRI. An abnormal retrourethral focus suspicious for PUD was identified at MRI in 13 patients. Ten of these patients underwent subsequent surgery or cystoscopy, and PUD was confirmed in five. All of the confirmed PUD cases appeared as cystic lesions that were at least 1 cm in diameter in two imaging planes. Four of the false-positive cases were punctate retrourethral foci that were visible only on a single MRI plane. One patient had a seminal vesical cyst mimicking a PUD. Pelvic MRI can be a useful tool in the postoperative assessment of suspected PUD associated with ARM. Radiologists should have a high clinical suspicion for a postoperative PUD when a cystic lesion posterior to the bladder/posterior urethra is encountered on two imaging planes in these patients. (orig.)

  6. MRI of acquired posterior urethral diverticulum following surgery for anorectal malformations

    International Nuclear Information System (INIS)

    Podberesky, Daniel J.; Anton, Christopher G.; Weaver, Nicholas C.; Lawal, Taiwo; Hamrick, Miller C.; Pena, Alberto; Levitt, Marc A.; Alam, Shumyle

    2011-01-01

    Posterior urethral diverticulum (PUD) is one of the most common postoperative complications associated with anorectal malformation (ARM) correction. To describe our MRI protocol for evaluating acquired PUD following ARM surgery, and associated imaging findings. Two radiologists retrospectively reviewed 61 pelvic MRI examinations performed for postoperative ARM for PUD identification and characteristics. Associated clinical, operative and cystoscopy reports were also reviewed and compared to MRI. An abnormal retrourethral focus suspicious for PUD was identified at MRI in 13 patients. Ten of these patients underwent subsequent surgery or cystoscopy, and PUD was confirmed in five. All of the confirmed PUD cases appeared as cystic lesions that were at least 1 cm in diameter in two imaging planes. Four of the false-positive cases were punctate retrourethral foci that were visible only on a single MRI plane. One patient had a seminal vesical cyst mimicking a PUD. Pelvic MRI can be a useful tool in the postoperative assessment of suspected PUD associated with ARM. Radiologists should have a high clinical suspicion for a postoperative PUD when a cystic lesion posterior to the bladder/posterior urethra is encountered on two imaging planes in these patients. (orig.)

  7. Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance.

    Science.gov (United States)

    Dworschak, Gabriel C; Zwink, Nadine; Schmiedeke, Eberhard; Mortazawi, Kiarasch; Märzheuser, Stefanie; Reinshagen, Konrad; Leonhardt, Johannes; Gómez, Barbara; Volk, Patrick; Rißmann, Anke; Jenetzky, Ekkehart; Reutter, Heiko

    2017-12-13

    Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms. Multiple familial cases reported, suggest underlying genetic factors that remain largely unknown. The recurrence in relatives is considered rare, however transmission rates of ARM by affected parents have never been determined before. The inheritance pattern of ARM was investigated in our database of patients with isolated ARM. Within our cohort of 327 patients with isolated ARM we identified eight adult patients from eight families who had in total 16 children with their healthy spouse. Of these ten had ARM, resulting in a recurrence risk of approximately one in two live births (10 of 16; 62%). From 226 families with 459 siblings we found two affected siblings in five families. Hence, the recurrence risk of ARM among siblings is approximately one in 92 live births (5 of 459; 1.0%). Comparing the observed recurrence risk in our cohort with the prevalence in the general population, we see a 1500-fold increase in recurrence risk for offspring and a 32-fold increase if a sibling is affected. The recurrence risk of approximately 62% indicates an autosomal dominant mode of inheritance. Reliable figures on recurrence of ARM are becoming increasingly important since improved surgical techniques are able to maintain sexual function resulting in more offspring of patients with ARM. These data allow more precise counseling of families with ARM and support the need for genetic studies.

  8. The morbidity of a divided stoma compared to a loop colostomy in patients with anorectal malformation.

    Science.gov (United States)

    Liechty, Shawn T; Barnhart, Douglas C; Huber, Jordan T; Zobell, Sarah; Rollins, Michael D

    2016-01-01

    Loop colostomies may contaminate the genitourinary (GU) tract in patients with anorectal malformations (ARM) owing to incomplete diversion of stool. Stoma complications are also thought to be higher with a loop versus divided colostomy. We sought to compare the morbidity, including urinary tract infections (UTI), in these two types of colostomies in children with ARM. A review was performed at a children's hospital (1989-2014). Children with ARM who had a colostomy performed were identified. Demographic data and outcome variables were collected. Analyses included Student's t-test, Fischer's exact and logistic regression as appropriate. 171 patients were identified (loop=78; divided=93). Thirty percent of patients with a divided colostomy and 24% with a loop experienced a stoma complication (p=0.5). A subgroup analysis of children with a rectourinary fistula (54 divided, 26 loop) was performed to assess for effect of colostomy type on UTI. After controlling for other UTI risk factors (major GU anomalies, vesicostomy, and prophylactic antibiotics), loop ostomies were not associated with risk of UTI (OR 0.83, 95% CI 0.27-2.63). No patient with a loop colostomy developed megarectum. Children with ARM who undergo a loop colostomy are not at a detectable increased risk of experiencing a UTI compared to a divided stoma. The rate of stoma complication is high regardless of the type of stoma created. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Outcome of loop versus divided colostomy in the management of anorectal malformations.

    Science.gov (United States)

    Almosallam, Osama Ibrahim; Aseeri, Ali; Shanafey, Saud Al

    2016-01-01

    Colostomy is a common part of the management of high anorectal malformation (ARM) in the pediatric population. To evaluate whether the type of colostomy (loop vs divided) has an impact on outcome in patients with ARM. A retrospective study. King Faisal Specialist Hospital and Research Center, a tertiary care center. All patients who were managed with colostomy for ARM and had definitive repair during the period of January 2000 to December 2014. Outcomes relative to the type of the colostomy were compared. Morbidities associated with each type of colostomy. There were 104 patients managed for ARM with colostomy as staged procedures, 63 males and 41 females. Patients had a colostomy at a median age of 6 days and were closed at a median of 11 months. Definitive repair was at a median age of 17 months. Type of fistula was 8 perineal, 21 rectovestibular, 35 rectourethral, 11 rectovesical and there were 16 without fistula and 13 cloaca anomalies. There were 55 loop and 49 divided colostomies. There were 91 descending/sigmoid and 13 transverse colostomies. Operative time for loop colostomy closure was shorter than with divided colo6stomy (76 minutes vs 94 minutes, P=.002). Three patients among the divided group had reversed orientation of the colostomy that had affected bowel preparations negatively prior to its repair. There was no differences in complications of creation and closure of loop and divided colostomies except in occurrence of skin excoriation. There was more skin excoriation with divided colostomy compared to loop colostomy (17 vs 10, P=.04). Loop colostomy has a shorter closure operative time and relatively fewer complications compared to the divided colostomy. Our data suggests that loop colostomy may be more favorable than divided colostomy for ARM patients. Retrospective nature of the study and some colostomies performed at other hospitals.

  10. Parental risk factors and anorectal malformations: systematic review and meta-analysis

    Directory of Open Access Journals (Sweden)

    Zwink Nadine

    2011-05-01

    Full Text Available Abstract Background Anorectal malformations (ARM are rare forms of congenital uro-rectal anomalies with largely unknown causes. Besides genetic factors, prenatal exposures of the parents to nicotine, alcohol, caffeine, illicit drugs, occupational hazards, overweight/obesity and diabetes mellitus are suspected as environmental risk factors. Methods Relevant studies published until August 2010 were identified through systematic search in PubMed, EMBASE, ISI Web of Knowledge and the Cochrane Library databases. Furthermore, related and cross-referencing publications were reviewed. Pooled odds ratios (95% confidence intervals were determined to quantify associations of maternal and paternal smoking, maternal alcohol consumption, underweight (body mass index [BMI] Results 22 studies that reported on the association between prenatal environmental risk factors and infants born with ARM were included in this review. These were conducted in the United States of America (n = 12, Spain (n = 2, Sweden (n = 2, the Netherlands (n = 2, Japan (n = 1, France (n = 1, Germany (n = 1 and Hungary (n = 1. However, only few of these studies reported on the same risk factors. Studies were heterogeneous with respect to case numbers, control types and adjustment for covariates. Consistently increased risks were observed for paternal smoking and maternal overweight, obesity and diabetes, but not for maternal smoking and alcohol consumption. In meta-analyses, pooled odds ratios (95% confidence intervals for paternal smoking, maternal overweight, obesity, pre-gestational and gestational diabetes were 1.53 (1.04-2.26, 1.25 (1.07-1.47, 1.64 (1.35-2.00, 4.51 (2.55-7.97 and 1.81 (1.23-2.65, respectively. Conclusion Evidence on risk factors for ARM from epidemiological studies is still very limited. Nevertheless, the few available studies indicate paternal smoking and maternal overweight, obesity and diabetes to be associated with increased risks. Further, ideally large

  11. Comparison of environmental risk factors for esophageal atresia, anorectal malformations, and the combined phenotype in 263 German families.

    Science.gov (United States)

    Zwink, N; Choinitzki, V; Baudisch, F; Hölscher, A; Boemers, T M; Turial, S; Kurz, R; Heydweiller, A; Keppler, K; Müller, A; Bagci, S; Pauly, M; Brokmeier, U; Leutner, A; Degenhardt, P; Schmiedeke, E; Märzheuser, S; Grasshoff-Derr, S; Holland-Cunz, S; Palta, M; Schäfer, M; Ure, B M; Lacher, M; Nöthen, M M; Schumacher, J; Jenetzky, E; Reutter, H

    2016-11-01

    Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) and anorectal malformations (ARM) represent the severe ends of the fore- and hindgut malformation spectra. Previous research suggests that environmental factors are implicated in their etiology. These risk factors might indicate the influence of specific etiological mechanisms on distinct developmental processes (e.g. fore- vs. hindgut malformation). The present study compared environmental factors in patients with isolated EA/TEF, isolated ARM, and the combined phenotype during the periconceptional period and the first trimester of pregnancy in order to investigate the hypothesis that fore- and hindgut malformations involve differing environmental factors. Patients with isolated EA/TEF (n = 98), isolated ARM (n = 123), and the combined phenotype (n = 42) were included. Families were recruited within the context of two German multicenter studies of the genetic and environmental causes of EA/TEF (great consortium) and ARM (CURE-Net). Exposures of interest were ascertained using an epidemiological questionnaire. Chi-square, Fisher's exact, and Mann-Whitney U-tests were used to assess differences between the three phenotypes. Newborns with isolated EA/TEF and the combined phenotype had significantly lower birth weights than newborns with isolated ARM (P = 0.001 and P studies. © 2015 International Society for Diseases of the Esophagus.

  12. Comparison of MR and fluoroscopic mucous fistulography in the pre-operative evaluation of infants with anorectal malformation: a pilot study

    Energy Technology Data Exchange (ETDEWEB)

    Alves, Jose C.G.; Lotz, Jan W.; Pitcher, Richard D. [Stellenbosch University, Division of Radiodiagnosis, Department of Medical Imaging and Clinical Oncology, Tygerberg Academic Hospital, Cape Town (South Africa); Sidler, Daniel [Stellenbosch University, Division of Pediatric Surgery, Department of Surgical Sciences, Tygerberg Academic Hospital, Cape Town (South Africa)

    2013-08-15

    Anorectal malformations are often associated with rectal pouch fistulas. Surgical correction requires accurate evaluation of the presence and position of such fistulas. Fluoroscopy is currently the chosen modality for the detection of fistulas. The role of MRI is unexplored. To compare the diagnostic accuracy of MR versus fluoroscopic fistulography in the pre-operative evaluation of infants with anorectal malformation. We conducted a pilot study of infants requiring defunctioning colostomy for initial management of anorectal malformation. Dynamic sagittal steady-state free-precession MRI of the pelvis was acquired during introduction of saline into the mucous fistulas. Findings were compared among MR fistulography, fluoroscopic fistulography and intraoperative inspection. Eight children were included. Median age at fistulography was 15 weeks, inter-quartile range 13-20 weeks; all were boys. There was full agreement among MR fistulography, fluoroscopic fistulography and surgical findings. The pilot data suggest that MR fistulography is promising in the pre-operative evaluation of children with anorectal malformation. (orig.)

  13. Quality of Life and Anxiety in Parents of Children with an Anorectal Malformation or Hirschsprung Disease: The First Year after Diagnosis

    NARCIS (Netherlands)

    Witvliet, Marieke J.; Bakx, Roel; Zwaveling, Sander; van Dijk, Tonnis H.; van der Steeg, Alida F. W.

    2016-01-01

    In 2012, we started the KLANKbord-study. A quality of life (QoL) study that follows patients with an anorectal malformation (ARM) or Hirschsprung disease (HD) and their parents from diagnosis till the age of 18 years. We hypothesized that the diagnosis of ARM or HD initially has a negative influence

  14. New concepts in preoperative imaging of anorectal malformation. New concepts in imaging of ARM

    Energy Technology Data Exchange (ETDEWEB)

    Taccone, A.; Delliacqua, A.; Marzoli, A. (Children' s Hospital G. Gaslini, Genoa (Italy). Dept. of Radiology); Martucciello, G.; Jasonni, V. (Children' s Hospital G. Gaslini, Genoa (Italy). Dept. of Pediatric Surgery); Dodero, P. (Children' s Hospital G. Gaslini, Genoa (Italy). Dept. of Intensive Care Unit); Salomone, G. (Children' s Hospital G. Gaslini, Genoa (Italy). Surgical Emergency Unit)

    1992-06-01

    In this study of 14 patients with anorectal anomalies CT and MRI were employed for preoperative assessment. The use of a pressure enhanced water soluble enema via the colostomy proved to be an extremely efficient method for showing a fistula. MRI studies were enhanced by the use of vaseline oil and in one case this technique was used prior to surgery to provide important information by injecting through a perineal fistula. CT and axial MRI proved to be more valuable than sagittal MRI which is only useful for the length of the atretic segment. The authors consider that a combined approach using pressure enhanced water soluble enema and MRI will provide the most valuable preoperative information to plan a successful operative approach and enable an accurate prognostic evaluation of continence in these difficult and complex patients. (orig.).

  15. Loop versus divided colostomy for the management of anorectal malformations: a systematic review and meta-analysis.

    Science.gov (United States)

    Youssef, Fouad; Arbash, Ghaidaa; Puligandla, Pramod S; Baird, Robert J

    2017-05-01

    The ideal colostomy type for patients with anorectal malformations (ARM) is undetermined. We performed a systematic review and meta-analysis of short-term complications comparing loop and divided colostomies. After review registration (PROSPERO: CRD42016036481), multiple databases were searched for comparative studies without language or date restrictions. Gray literature was sought. Complications investigated included stomal prolapse/hernia/retraction, wound infections, and urinary tract infections (UTIs). Two reviewers independently assessed study eligibility and the quality of included studies. Meta-analysis of selected complications was performed using Revman 5.3, with pcolostomies and 1994 divided colostomies were reported. Of 10 studies reporting short-term complications, the overall rate was 27%. Meta-analysis demonstrated no significant difference in the incidence of UTIs, (OR: 2.55 [0.76, 8.58], p=0.12), while loop colostomies had a significantly higher prolapse rate (See figure). No publication bias was noted. A colostomy for patients with an ARM is a source of considerable morbidity. Divided colostomies reduce the risk of subsequent prolapse and may represent the preferred approach. 3A. Copyright © 2017 Elsevier Inc. All rights reserved.

  16. Ectopic expression of Ptf1a induces spinal defects, urogenital defects, and anorectal malformations in Danforth's short tail mice.

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    Kei Semba

    Full Text Available Danforth's short tail (Sd is a semidominant mutation on mouse chromosome 2, characterized by spinal defects, urogenital defects, and anorectal malformations. However, the gene responsible for the Sd phenotype was unknown. In this study, we identified the molecular basis of the Sd mutation. By positional cloning, we identified the insertion of an early transposon in the Sd candidate locus approximately 12-kb upstream of Ptf1a. We found that insertion of the transposon caused overexpression of three neighboring genes, Gm13344, Gm13336, and Ptf1a, in Sd mutant embryos and that the Sd phenotype was not caused by disruption of an as-yet-unknown gene in the candidate locus. Using multiple knockout and knock-in mouse models, we demonstrated that misexpression of Ptf1a, but not of Gm13344 or Gm13336, in the notochord, hindgut, cloaca, and mesonephros was sufficient to replicate the Sd phenotype. The ectopic expression of Ptf1a in the caudal embryo resulted in attenuated expression of Cdx2 and its downstream target genes T, Wnt3a, and Cyp26a1; we conclude that this is the molecular basis of the Sd phenotype. Analysis of Sd mutant mice will provide insight into the development of the spinal column, anus, and kidney.

  17. High resolution MRI for preoperative work-up of neonates with an anorectal malformation: a direct comparison with distal pressure colostography/fistulography

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    Thomeer, Maarten G. [Erasmus MC, Department of Radiology, Rotterdam (Netherlands); Devos, Annick; Lequin, Maarten; Graaf, Nanko de; Meradji, Morteza [Erasmus MC, Department of Pediatric Radiology, Rotterdam (Netherlands); Meeussen, Conny J.H.M.; Blaauw, Ivo de; Sloots, Cornelius E.J. [Erasmus MC, Department of Pediatric Surgery, Rotterdam (Netherlands)

    2015-12-15

    To compare MRI and colostography/fistulography in neonates with anorectal malformations (ARM), using surgery as reference standard. Thirty-three neonates (22 boys) with ARM were included. All patients underwent both preoperative high-resolution MRI (without sedation or contrast instillation) and colostography/fistulography. The Krickenbeck classification was used to classify anorectal malformations, and the level of the rectal ending in relation to the levator muscle was evaluated. Subjects included nine patients with a bulbar recto-urethral fistula, six with a prostatic recto-urethral fistula, five with a vestibular fistula, five with a cloacal malformation, four without fistula, one with a H-type fistula, one with anal stenosis, one with a rectoperineal fistula and one with a bladderneck fistula. MRI and colostography/fistulography predicted anatomy in 88 % (29/33) and 61 % (20/33) of cases, respectively (p = 0.012). The distal end of the rectal pouch was correctly predicted in 88 % (29/33) and 67 % (22/33) of cases, respectively (p = 0.065). The length of the common channel in cloacal malformation was predicted with MRI in all (100 %, 5/5) and in 80 % of cases (4/5) with colostography/fistulography. Two bowel perforations occurred during colostography/fistulography. MRI provides the most accurate evaluation of ARM and should be considered a serious alternative to colostography/fistulography during preoperative work-up. (orig.)

  18. Esophageal atresia associated with anorectal malformation: Is the outcome better after surgery in two stages in a limited resources scenario?

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    Sunita Singh

    2012-01-01

    Full Text Available Aims: To analyze whether outcome of neonates having esophageal atresia with or without tracheoesophageal fistula (EA±TEF associated with anorectal malformation (ARM can be improved by doing surgery in 2 stages. Materials and Methods : A prospective study of neonates having both EA±TEF and ARM from 2004 to 2011. The patients with favorable parameters were operated in a single stage, whereas others underwent first-stage decompression surgery for ARM. Thereafter, once septicemia was under control and ventilator care available, second-stage surgery for EA±TEF was performed. Results: Total 70 neonates (single stage = 20, 2 stages = 30, expired after colostomy = 9, only EA±TEF repair needed = 11 were enrolled. The admission rate for this association was 1 per 290. Forty-one percent (24/70 neonates had VACTERL association and 8.6% (6/70 neonates had multiple gastrointestinal atresias. Sepsis screen was positive in 71.4% (50/70. The survival was 45% (9/20 in neonates operated in a single stage and 53.3% (16/30 when operated in 2 stages (P = 0.04. Data analysis of 50 patients revealed that the survived neonates had significantly better birth weight, better gestational age, negative sepsis screen, no cardiac diseases, no pneumonia, and 2-stage surgery (P value 0.002, 0.003, 0.02, 0.02, 0.04, and 0.04, respectively. The day of presentation and abdominal distension had no significant effect (P value 0.06 and 0.06, respectively. This was further supported by stepwise logistic regression analysis. Conclusions: In a limited resources scenario, the survival rate of babies with this association can be improved by treating ARM first and then for EA±TEF in second stage, once mechanical ventilator care became available and sepsis was under control.

  19. Spinal cord anomalies in patients with anorectal malformations without severe sacral abnormalities or meningomyelocele: outcomes after expectant, conservative management.

    Science.gov (United States)

    Kyrklund, Kristiina; Pakarinen, Mikko P; Taskinen, Seppo; Kivisaari, Reetta; Rintala, Risto J

    2016-12-01

    OBJECTIVE The goal of this study was to determine the significance of spinal cord anomalies (SCAs) in patients with anorectal malformations (ARMs) by comparing the outcomes for bowel function, lower urinary tract symptoms (LUTS), and lower-limb neurological abnormalities to these outcomes in patients with similar ARMs and a normal spinal cord. METHODS The spinal cord MRI records of female patients treated for vestibular and perineal fistula (VF/PF) and male patients with rectourethral fistula (RUF) at a single center between 1983 and 2006 were reviewed. Bowel function and LUTS were assessed by questionnaire. Patients with extensive sacral anomalies or meningomyelocele were excluded. RESULTS Of 89 patients (median age 15 years, range 5-29 years), MRI was available in 90% (n = 80; 40 male patients with RUF), and 80% of patients returned the questionnaire (n = 64; 31 male patients with RUF). Spinal cord anomalies were found in 34%, comprising a filum terminale lipoma in 30%, low conus medullaris in 10%, and thoracolumbar syrinx in 6%. Bowel functional outcomes between patients with SCAs (n = 23) and those with a normal spinal cord (n = 41) were not significantly different for soiling (70% vs 63%), fecal accidents (43% vs 34%), and constipation (57% vs 39%; p = not significant for all). The LUTS, including urge (65% vs 54%), urge incontinence (39% vs 24%), stress incontinence (17% vs 22%), and straining (32% vs 29%) were also comparable between groups (p = not significant for all). No patients developed lower-limb neurological abnormalities. CONCLUSIONS The results suggest that the long-term functional outcomes for patients with SCAs who had VF/PF and RUF may not differ significantly from patients with the same type of ARMs and a normal spinal cord. The results favor a conservative approach to their management in the absence of abnormal neurological findings in the lower limbs.

  20. To split or not to split: colostomy complications for anorectal malformations or hirschsprung disease: a single center experience and a systematic review of the literature.

    Science.gov (United States)

    van den Hondel, Desiree; Sloots, Cornelius; Meeussen, Conny; Wijnen, Rene

    2014-02-01

    The aim of this article is to identify the ideal type and location of colostomy in children with colorectal disease. A retrospective case study of children with an anorectal malformation who received a colostomy, born between January 1990 and July 2012. Furthermore, a systematic literature search on colostomies in neonates with an anorectal malformation or Hirschsprung disease. Colostomies were classified as loop or split colostomies in the transverse or sigmoid colon. Outcome measures were mortality and complications such as prolapse, technical difficulties with the reconstruction, urinary tract infections, and others. The mortality rate in the 180 children with anorectal malformation was 6%, and none of them were directly related to stoma formation or closure. The overall complication rate was 23% and the specific rates for the two types of procedures and the two locations of the colostomy did not differ (p = 0.389 and p = 0.667, respectively). All prolapses (n = 22) occurred in loop colostomies in the transverse colon. One colostomy required revision because of insufficient length for the reconstruction. Urinary tract infections were not documented. A total of eight studies were included in the systematic review (1982-2011; 2,954 patients). Mortality ranged between 0.1 and 11%. Loop colostomies had more complications than split colostomies (63 vs. 45%; p = 0.007), mainly prolapse (18 vs. 6%; p colostomies (62 vs. 51%, p = 0.006), and prolapse occurred more often in the transverse colon (23 vs. 7%; p colostomies, whereas the other showed frequent episodes of urinary tract infections in 64% of the loop colostomies. The complication to be avoided in transverse colostomies is prolapse and the surgical technique should be modified accordingly. The procedure of split sigmoid colostomy is meticulous, and the risk of insufficient length for the reconstruction remains. Georg Thieme Verlag KG Stuttgart · New York.

  1. Do geography and resources influence the need for colostomy in Hirschsprung's disease and anorectal malformations? A Canadian association of paediatric surgeons: association of paediatric surgeons of Nigeria survey.

    Science.gov (United States)

    Abdur-Rahman, Lukman O; Shawyer, Anna; Vizcarra, Rachel; Bailey, Karen; Cameron, Brian H

    2014-01-01

    This survey compared surgical management of Hirschsprung's disease (HD) and anorectal malformations (ARM) in high and low resource settings. An online survey was sent to 208 members of the Canadian Association of Paediatric Surgeons (CAPS) and the Association of Paediatric Surgeons of Nigeria (APSON). The response rate was 76.8% with 127 complete surveys (APSON 34, CAPS 97). Only 29.5% of APSON surgeons had frozen section available for diagnosis of HD. They were more likely to choose full thickness rectal biopsy (APSON 70.6% vs. CAPS 9.4%, P colostomy for HD (APSON 23.5% vs. CAPS 0%, P colostomy in females with vestibular fistula varied widely independent of geography. APSON surgeons were less likely to have enterostomal therapists and patient education resources. Local resources which vary by geographic location affect the management of HD and ARM including colostomy. Collaboration between CAPS and APSON members could address resource and educational needs to improve patient care.

  2. [Exstrophy of rectal duplication associated with anorectal malformation and penoscrotal transposition with perineal hypospadias. A case report].

    Science.gov (United States)

    Fernández Fernández, Jesús Angel; Parodi Hueck, Luis; Carrasco Fermín, Joanna

    2014-06-01

    We present the case of a male patient who required treaatment due to anorectal agenesis with recto urethral fistula and penoscrotal transposition with perineal hypospadias, associated with a perineal tumor. The perineal tumor was found strongly adhered and contiguous to the rectum which makes it compatible with an exstrophy of rectal duplication. Surgical reconstruction of the birth defect was performed in stages until acceptable biological function and esthetic results were obtained.

  3. Anorectal emergencies

    Science.gov (United States)

    Lohsiriwat, Varut

    2016-01-01

    Anorectal emergencies refer to anorectal disorders presenting with some alarming symptoms such as acute anal pain and bleeding which might require an immediate management. This article deals with the diagnosis and management of common anorectal emergencies such as acutely thrombosed external hemorrhoid, thrombosed or strangulated internal hemorrhoid, bleeding hemorrhoid, bleeding anorectal varices, anal fissure, irreducible or strangulated rectal prolapse, anorectal abscess, perineal necrotizing fasciitis (Fournier gangrene), retained anorectal foreign bodies and obstructing rectal cancer. Sexually transmitted diseases as anorectal non-surgical emergencies and some anorectal emergencies in neonates are also discussed. The last part of this review dedicates to the management of early complications following common anorectal procedures that may present as an emergency including acute urinary retention, bleeding, fecal impaction and anorectal sepsis. Although many of anorectal disorders presenting in an emergency setting are not life-threatening and may be successfully treated in an outpatient clinic, an accurate diagnosis and proper management remains a challenging problem for clinicians. A detailed history taking and a careful physical examination, including digital rectal examination and anoscopy, is essential for correct diagnosis and plan of treatment. In some cases, some imaging examinations, such as endoanal ultrasonography and computerized tomography scan of whole abdomen, are required. If in doubt, the attending physicians should not hesitate to consult an expert e.g., colorectal surgeon about the diagnosis, proper management and appropriate follow-up. PMID:27468181

  4. Preventing posterior sagittal anoplasty ′cripples′ in areas with limited medical resources: A few modifications to surgical approach in anorectal malformations

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    Claudio Olivieri

    2012-01-01

    Full Text Available Background: Anorectal malformations (ARM are the most common neonatal emergencies in Sub-Saharan Africa countries. Late presentation, lack of pediatric facilities and trained paediatric surgeons influence the outcome of these patients. This study reports a 5-year of experience in the management of ARM at the Orotta Referral Hospital in Asmara (Eritrea and proposes some modified surgical approaches to minimize the risk of complications and the length of hospital stay. Materials and Methods: We reviewed the records of 38 patients with ARM observed between September 2006 and April 2011. Since 2009 a modification of original posterior sagittal anorectoplasty (PSARP was introduced, consisting in a long rectal stump (3 cms closed and left at the perineal level, to be trimmed after two weeks. This avoided mucous spillage on the wound and prevented contamination. Post-operative course and outcome were evalued in the two group of patients divided according the type of surgical technique (Group A: Standard PSARP; Group B: Modified PSARP. Results: There were 21 boys and 17 girls aged 4 days to 9 years (median age 182 days. Of the 38 patients, 2 infants died before surgery and 3 refused preliminary colostomy. Previously confectioned colostomies often required revision or redoing due to severe prolapse or malposition. When possible, primary sigmoid colostomy was performed. There were 15 patients in Group A and 18 in Group B. Wound infection or disruption were recorded in 7 cases (46% in Group A and in 2 (11% in Group B. Late complications were related to anal stenosis, which required long term dilatations. Three cases needed a PSARP redo (2 in Group A, 1 Group B. Conclusions: We believe that our simple modification of original PSARP technique could be of help lowering post-operative complications rate and reducing hospital stay. Family compliance is mandatory for long-term surgical success. A relevant time must be spent in training to stoma care and post

  5. Understanding Experiences of Youth Growing Up with Anorectal Malformation or Hirschsprung's Disease to Inform Transition Care: A Qualitative In-Depth Interview Study.

    Science.gov (United States)

    Nah, Shireen Anne; Ong, Caroline C P; Lie, Desiree; Marimuttu, Vicknesan Jeyan; Hong, Julian; Te-Lu, Yap; Low, Yee; Jacobsen, Anette Sundfor

    2018-02-01

     The impact of anorectal malformation (ARM) or Hirschsprung's disease (HD) in children continues into adulthood despite early surgical correction. We aimed to explore the physical, social, and emotional impacts of these conditions on youth to inform best transition care strategies.  Eligible participants were those aged between 14 and 21 years who had undergone surgery for ARM/HD in our institution. We conducted one-on-one in-depth interviews to saturation using a question guide developed from literature review and clinician expertise. Deidentified transcripts were coded by four coders (two pediatric surgeons, one psychiatrist, and one qualitative expert) for major themes using a constant comparison approach. A theoretical model for understanding the transition experience was developed using grounded theory.  Out of 120 patients identified as eligible, 11 youth (6 males) participated in the study. Interviews lasted from 50 to 60 minutes. Four major themes emerged: (1) social support (subthemes: family as core, friends as outer support), (2) cognitive and emotional change (subthemes: realization/recognition of illness, matching emotional response), (3) impact of physical symptoms (subthemes: adverse effects of abnormal bowel habits, gaining bowel continence control leading to overall feeling of control, need to keep disease private), and (4) healthcare providers (viewed as important information sources). Themes did not differ by gender.  Our model suggests that participants' understanding of bowel disease evolved over time with a "lightbulb" moment in preteens or early teens accompanied by increasing disease ownership and self-management. Clinicians should independently engage with patients in late childhood to address evolving emotional and information needs and encourage increasing autonomy. Future studies should explore communication approaches to meet transition needs of patients. Georg Thieme Verlag KG Stuttgart · New York.

  6. Primary Definitive Procedure versus Conventional Three-staged Procedure for the Management of Low-type Anorectal Malformation in Females: A Randomized Controlled Trial.

    Science.gov (United States)

    Gupta, Alisha; Agarwala, Sandeep; Sreenivas, Vishnubhatla; Srinivas, Madhur; Bhatnagar, Veereshwar

    2017-01-01

    Females with Krickenbeck low-type anorectal malformations - vestibular fistula (VF) and perineal fistula (PF) - are managed either by a primary definitive or conventional three-staged approach. Ultimate outcome in these children may be affected by wound dehiscence leading to healing by fibrosis. Most of the literature favors one approach over other based on retrospective analysis of their outcomes. Whether a statistically significant difference in wound dehiscence rates between these approaches exists needed to be seen. A randomized controlled trial for girls <14 years with VF or PF was done. Random tables were used to randomize 33 children to Group I (primary procedure) and 31 to Group II (three-staged procedure). Statistical analysis was done for significance of difference ( P < 0.05) in the primary outcome (wound dehiscence) and secondary outcomes (immediate and early postoperative complications). Of the 64 children randomized, 54 (84%) had VF. Both groups were comparable in demography, clinical profile and age at surgery. The incidence of wound dehiscence (39.4% vs. 18.2%; P = 0.04), immediate postoperative complications (51.5% vs. 12.9%; P = 0.001), and early postoperative complications (42.4% vs. 12.9%; P = 0.01) was significantly higher in Group I as compared to Group II. Six of 13 children (46.2%) with dehiscence in Group I required a diverting colostomy to be made. Females with VF or PF undergoing primary definitive procedure have a significantly higher incidence of wound dehiscence ( P = 0.04), immediate ( P = 0.001) and early postoperative complications ( P = 0.01).

  7. Quality of Life and Anxiety in Parents of Children with an Anorectal Malformation or Hirschsprung Disease: The First Year after Diagnosis.

    Science.gov (United States)

    Witvliet, Marieke J; Bakx, Roel; Zwaveling, Sander; van Dijk, Tonnis H; van der Steeg, Alida F W

    2016-02-01

    In 2012, we started the KLANKbord-study. A quality of life (QoL) study that follows patients with an anorectal malformation (ARM) or Hirschsprung disease (HD) and their parents from diagnosis till the age of 18 years. We hypothesized that the diagnosis of ARM or HD initially has a negative influence on QoL and anxiety levels of parents, but that this influence will diminish over time. The aim of this study is to see whether QoL and anxiety levels of parents change within the first year after the diagnosis. Parents of all children born with ARM or HD, were eligible for this study. Within 3 months after the diagnosis ARM or HD, parents received a set of validated QoL questionnaires (measurement 1). Measurement 2 was 12 months after the first questionnaire. During measurement 1 mothers (n = 20) scored significantly higher on the social (p value, 0.01; 95% confidence interval [CI], 0.3946-3.1528) and environmental domain (p value, 0.01; 95% CI, 0.4449-2.2851) of the World Health Organization Quality of Life-BREF (WHOQOL-BREF) compared with the known reference values. Fathers (n = 19) scored significantly higher on the physical (p value, 0.01; 95% CI, 0.2964-1.8072), psychological (p value, 0.001; 95% CI, 0.7697-2.4757), and environmental domain (p value, 0.003; 95% CI, 0.5586-2.4214) than the reference values. Comparison of all domains of the WHOQOL-BREF for mothers and fathers between measurements did not show a significant difference. Anxiety levels of mothers were lower during measurement 2 compared with measurement 1. Anxiety levels of fathers were higher during measurement 2 compared with measurement 1. These differences are not significant. Anxiety levels of mothers were significantly higher than anxiety levels of fathers during measurement 1 (p value, 0.002; 95% CI, 0.808-2,956). During measurement 2 this difference in anxiety of mothers versus fathers did not exist (p value, 0.373; 95% CI, -1.157 to 2.922). A negative influence on the QoL of parents having a

  8. Anorectal Disorders

    Science.gov (United States)

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

    2016-01-01

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

  9. Early reported rectal sensation predicts continence in anorectal anomalies.

    Science.gov (United States)

    Skerritt, Clare; Tyraskis, Athanasios; Rees, Clare; Cockar, Iram; Kiely, Edward

    2016-03-01

    Straining at stool is an automatic reflex in babies and implies the presence of rectal sensation. We hypothesised that early reported rectal sensation would predict future continence in children with anorectal anomalies. The aim of this study is to determine if early straining at stool was a useful predictor of future continence in infants born with high anorectal malformations. A retrospective case note review of prospectively collected clinical information was performed with institutional review board approval. All patients with intermediate/high anorectal malformation operated on by a single surgeon from 1984 to 2010 were included. After stoma closure, parents were asked: The responses were noted within the first year of stoma closure and then all patients were followed up until they were at least 3 ½years old and continence could be assessed using the Krickenbeck outcome classification. Data were compared using Fisher's exact test and sensitivity, specificity and positive predictive value (PPV) were calculated. Forty-eight patients were included in the study. Sixteen (33%) were female (12 cloacal malformation, 3 rectovaginal fistula, 1 rectal atresia) and 32 (66%) were male (6 rectovesical fistulae, 22 rectourethral fistulae, 4 no fistula). Median follow-up was 9.7years (range 3.5-17.9). Twenty-one children were noted by their parents to exhibit early straining at stool after stoma closure. Twenty of them achieved long term continence. The sensitivity of early straining as a predictor for long term continence was 77%, specificity 95% and positive predictive value 95%. The presence of early rectal sensation reported by parents is a good predictor of long term continence. This allows more informed discussion with families in the early years of life. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Do geography and resources influence the need for colostomy in Hirschsprung′s disease and anorectal malformations? A Canadian association of paediatric surgeons: Association of paediatric surgeons of Nigeria survey

    Directory of Open Access Journals (Sweden)

    Lukman O. Abdur-Rahman

    2014-01-01

    Full Text Available Background: This survey compared surgical management of Hirschsprung′s disease (HD and anorectal malformations (ARM in high and low resource settings. Materials and Methods: An online survey was sent to 208 members of the Canadian Association of Paediatric Surgeons (CAPS and the Association of Paediatric Surgeons of Nigeria (APSON. Results: The response rate was 76.8% with 127 complete surveys (APSON 34, CAPS 97. Only 29.5% of APSON surgeons had frozen section available for diagnosis of HD. They were more likely to choose full thickness rectal biopsy (APSON 70.6% vs. CAPS 9.4%, P < 0.05 and do an initial colostomy for HD (APSON 23.5% vs. CAPS 0%, P < 0.05. Experience with trans-anal pull-through for HD was similar in both groups (APSON 76.5%, CAPS 66.7%. CAPS members practising in the United States were more likely to perform a one-stage pull-through for HD during the initial hospitalization (USA 65.4% vs. Canada 28.3%, P < 0.05. The frequency of colostomy in females with vestibular fistula varied widely independent of geography. APSON surgeons were less likely to have enterostomal therapists and patient education resources. Conclusions: Local resources which vary by geographic location affect the management of HD and ARM including colostomy. Collaboration between CAPS and APSON members could address resource and educational needs to improve patient care.

  11. Study of the density of ganglion cells in the terminal bowel of rats with anorectal malformations Estudo da densidade das células ganglionares no intestino terminal de ratos portadores de anomalia anorretal

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    Maurício Macedo

    2007-12-01

    Full Text Available PURPOSE: To study the ganglion cells (GC in the terminal bowel of rats with ethylenethiourea (ETU induced anorectal malformations (ARM. METHODS: The animals were divided into three groups: Group A - normal fetuses from pregnant rats that were not administered ETU; Group B - fetuses without ARM born from pregnant rats that were administered ETU and Group C - fetuses with ARM born from pregnant rats that received ETU. ETU was administered on the 11th day of pregnancy at the dose of 125 mg/kg body weight by gastric gavage. The rats had cesarean section on the 21st day of gestation. The fetuses’ terminal bowel tissue was analyzed by immunohistochemistry to demonstrate ganglion cells. RESULTS: Statistically significant differences were found between groups A, B and C regarding ganglion cell densities. Group A had the highest cell density, followed by Group B and the lowest density was found in Group C. CONCLUSION: Ganglion cell densities are decreased in the terminal bowel of rats with ARM.OBJETIVO: Estudar as células ganglionares (CG no intestino terminal de ratos portadores de anomalia anorretal (AAR induzida pela etilenotiouréia (ETU. MÉTODOS: Os animais foram distribuídos em três grupos: Grupo A - fetos normais, obtidos de ratas grávidas às quais não foi administrada ETU; Grupo B - fetos não portadores de AAR obtidos de ratas grávidas às quais foi administrada ETU e Grupo C - fetos portadores de AAR obtidos de ratas grávidas às quais foi administrada ETU. A ETU foi administrada no décimo primeiro dia de gestação na dose de 125 mg/Kg, por gavagem. As ratas foram submetidas à laparotomia e histerotomia para retirada dos fetos no vigésimo primeiro dia de gestação. O intestino terminal dos fetos foi retirado e analisado por imunohistoquímica para pesquisa de CG. RESULTADOS: Foram encontradas diferenças estatisticamente significantes entre os grupos A, B e C quanto à densidade de CG. O grupo A apresentou a maior densidade

  12. Pre-operative MRI of anorectal anomalies in the newborn period

    International Nuclear Information System (INIS)

    McHugh, K.; Dudley, N.E.; Tam, P.

    1995-01-01

    Nine infants (six boys, three girls) with anorectal anomalies were examined in the immediate newborn period, prior to corrective surgery, with MRI. Three high, one intermediate and five low anomalies were found at MRI - one patient with a 'low' lesion was subsequently found at surgery 2 months later to have a high anorectal anomaly. This infant had passed meconium per urethram soon after the MRI study, prompting the need for a protective colostomy and stressing the importance of a thorough clinical examination of babies with anorectal malformations. The MRI results and findings at surgery were in agreement in all other patients (n=8). Hydronephrosis was evident in two and renal agenesis in one patient. Sacrococcygeal hypoplasia was found in two and two hemivertebrae in one infant. No spinal cord lesion was identified. One fistula was evident on MRI but four were later found at surgery. Uniformly hyperintense T1 signal meconium was seen in all nine newborns, allowing for easy differentiation of rectal contents from rectal wall and the adjacent musculature. MRI can provide useful information regarding the development of the puborectal and external anal sphincter muscles, can help guide the pull-through procedure and help predict future continence pre-operatively in the newborn period. (orig.)

  13. Pre-operative MRI of anorectal anomalies in the newborn period

    Energy Technology Data Exchange (ETDEWEB)

    McHugh, K. [Dept. of Radiology, John Radcliffe Hospital, Oxford (United Kingdom); Dudley, N.E. [Dept. of Paediatric Surgery, John Radcliffe Hospital, Oxford (United Kingdom); Tam, P. [Dept. of Paediatric Surgery, John Radcliffe Hospital, Oxford (United Kingdom)

    1995-11-01

    Nine infants (six boys, three girls) with anorectal anomalies were examined in the immediate newborn period, prior to corrective surgery, with MRI. Three high, one intermediate and five low anomalies were found at MRI - one patient with a `low` lesion was subsequently found at surgery 2 months later to have a high anorectal anomaly. This infant had passed meconium per urethram soon after the MRI study, prompting the need for a protective colostomy and stressing the importance of a thorough clinical examination of babies with anorectal malformations. The MRI results and findings at surgery were in agreement in all other patients (n=8). Hydronephrosis was evident in two and renal agenesis in one patient. Sacrococcygeal hypoplasia was found in two and two hemivertebrae in one infant. No spinal cord lesion was identified. One fistula was evident on MRI but four were later found at surgery. Uniformly hyperintense T1 signal meconium was seen in all nine newborns, allowing for easy differentiation of rectal contents from rectal wall and the adjacent musculature. MRI can provide useful information regarding the development of the puborectal and external anal sphincter muscles, can help guide the pull-through procedure and help predict future continence pre-operatively in the newborn period. (orig.)

  14. Patterns and outcome of surgical management of anorectal ...

    African Journals Online (AJOL)

    Background: Anorectal malformations (ARM) are common congenital abnormalities in most parts of the world and its management remains a challenge to surgeons practicing in resource-limited setting such as Tanzania. This study aimed to determine the patterns and outcome of surgical management of ARM at a ...

  15. Anal sphincter electromyography in patients with Anorectal Dysfunctions

    International Nuclear Information System (INIS)

    Trinchet Soler, Rafael; Hidalgo Marrero, Yanet; Espichicoque Megret, Arianne; Manzano Suarez, Jianeya; Perez Gonzales, Ruth Maite

    2009-01-01

    The purpose of this work is to evaluate the electromyography value of anal sphincter in patients with anorectal dysfunctions. Anorectal dysfunctions are frequent reason of pediatric consultation in children, especially with anal incontinence. A study of series of cases in patient with anorectal dysfunctions was carried out from January 2002 to January of 2006. 65 patients were studied. Anorectal malformations (ARM) represented the predominant affection with 38 patients (58.5%), prevailing the male sex in 25 patients (65.8%). Encopresis and intestinal agagliosis dicrease was observed. Sphincter was found before surgical treatment through electromyography in patients with anorectal malformations and colostomy; in those with definitive operation and open colostomy, it avoided the operation in a patient that did not have muscular activity of the external sphincter. In children already operated and with closed colostomy several electromyography changes were observed in correspondence with different incontinence grades. In encopresis cases the study was useful to rule out sphincter functional alterations. Electromyography was pathological in all the operated patients of intestinal aganglionosis. This procedure was very useful for anal incontinence study that helped to determine and establish the prognosis. (author)

  16. Common anorectal disorders.

    Science.gov (United States)

    Foxx-Orenstein, Amy E; Umar, Sarah B; Crowell, Michael D

    2014-05-01

    Anorectal disorders result in many visits to healthcare specialists. These disorders include benign conditions such as hemorrhoids to more serious conditions such as malignancy; thus, it is important for the clinician to be familiar with these disorders as well as know how to conduct an appropriate history and physical examination. This article reviews the most common anorectal disorders, including hemorrhoids, anal fissures, fecal incontinence, proctalgia fugax, excessive perineal descent, and pruritus ani, and provides guidelines on comprehensive evaluation and management.

  17. Functional Anorectal Disorders.

    Science.gov (United States)

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

    2016-03-25

    This report defines criteria and reviews the epidemiology, pathophysiology, and management of common anorectal disorders: fecal incontinence (FI), functional anorectal pain and functional defecation disorders. FI is defined as the recurrent uncontrolled passage of fecal material for at least 3 months. The clinical features of FI are useful for guiding diagnostic testing and therapy. Anorectal manometry and imaging are useful for evaluating anal and pelvic floor structure and function. Education, antidiarrheals and biofeedback therapy are the mainstay of management; surgery may be useful in refractory cases. Functional anorectal pain syndromes are defined by clinical features and categorized into three subtypes. In proctalgia fugax, the pain is typically fleeting and lasts for seconds to minutes. In levator ani syndrome (LAS) and unspecified anorectal pain the pain lasts more than 30 minutes, but in LAS there is puborectalis tenderness. Functional defecation disorders are defined by >2 symptoms of chronic constipation or irritable bowel syndrome with constipation, and with >2 features of impaired evacuation i.e., abnormal evacuation pattern on manometry, abnormal balloon expulsion test or impaired rectal evacuation by imaging. It includes two subtypes; dyssynergic defecation and inadequate defecatory propulsion. Pelvic floor biofeedback therapy is effective for treating LAS and defecatory disorders. Copyright © 2016 AGA Institute. Published by Elsevier Inc. All rights reserved.

  18. The currarino triad of anorectal, sacral, and presacral anomalies

    International Nuclear Information System (INIS)

    Kim, Jong Chul; Yeon, Kyung Mo

    1986-01-01

    The Currarino triad is a unique complex of congenital anomalies including anorectal including anorectal malformation, scral bony abnormality, and presacral mass. The usual symptomatology is constipation due to anorectal stenosis. Three patients with this triad confirmed by surgical operation during recent two years in Seoul National University Children's Hospital were presented with a brief review of clinical features, unique radiologic appearance and postulated pathophysiology. The presacral mass was a mature teratoma in the first patient, a lipomyelomeningocele-epidermoid inclusion cyst in the second patients, and myelomeningocele in the third patient. A correct diagnosis of the Currarino triad by radiologists is important, and may help the physicians to investigate detailed family history and associated anomalies and to establish adequate surgical plans.

  19. Histopathologic observations of anorectal abnormalities in anal atresia.

    Science.gov (United States)

    Meier-Ruge, W A; Holschneider, A M

    2000-01-01

    Over the years from 1992 to 1997, 41 anorectal malformations (ARM) with histopathologic alterations were investigated to determine which morphologic abnormalities of the distal rectum accompany ARMs. Three other cases showed normal neuromuscular morphology; 9 further cases could not be evaluated owing to scanty biopsies. All resected specimens were caudocranially coiled and cryostat cut at -20 degrees C into serial sections, which were stained with a lactic dehydrogenase, succinic dehydrogenase, nitroxide synthase, and acetylcholinesterase reaction as well as hemalum and sirius red. Ten low, 15 intermediate, and 10 high forms of anal atresia (AA) were studied. In addition, six cloacal abnormalities were investigated. In 7 cases (17%) (5 intermediate, 2 low AAs), the characteristics of Hirschsprung's disease were observed. Oligoneuronal hypoganglionosis of the myenteric plexus proximal to the anal floor was diagnosed in 7 AAs (12%). In 10 children with high-type AA and resection of 1-5 cm distal rectum and in all cloacal anomalies (n = 6) defects of the muscularis propria were seen in the rectal-atresia sac. These defects were characterized by hypoplasia of the circular-muscle layer and/or the internal anal sphincter (IAS). Intestinal neuronal dysplasia of the submucous plexus was most frequently observed (12%) in high-type AA. A correlation between innervation anomalies or anomalies of the muscularis propria and the type of fistula could not be seen. In conclusion, all cases with high-type AA and cloacal anomalies were characterized by anomalies of the muscularis propria and/or IAS but this was not the case in intermediate and low-type AAs. Anomalies of the enteric nervous system were diagnosed in 60% of AAs.

  20. Primary Anorectal Melanoma

    Directory of Open Access Journals (Sweden)

    Maliha Khan

    2014-03-01

    Full Text Available Primary malignant melanoma of the anus and rectum is a rare and aggressive neoplasm that tends to invade locally and metastasize early in the course of the disease. It is often misdiagnosed as hemorrhoids or as one of the other benign anorectal conditions and is thus linked to an overall poor prognosis and a 5-year survival rate of less than 20%. Optimal treatment is still controversial, and current evidence does not show any preferential survival benefit from abdominoperineal resection over wide local excision. Chemotherapy or radiotherapy may be used for advanced disease. We report a 71-year-old female presenting with painful bowel movements and blood in stools. She was eventually found to have a mass arising from the anorectal junction with regional lymph node involvement. The patient underwent an abdominoperineal resection and is currently scheduled for chemotherapy.

  1. Anorectal and Pelvic Pain.

    Science.gov (United States)

    Bharucha, Adil E; Lee, Tae Hee

    2016-10-01

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

  2. Cutaneous metastasis in anorectal adenocarcinoma

    Directory of Open Access Journals (Sweden)

    Krishnendra Varma

    2015-01-01

    Full Text Available Cutaneous metastasis in anorectal adenocarcinoma is a rare entity. Here, we report the case of a 40-year-old female who presented with yellowish-brown, irregular, solid, elevated rashes over the pubis with a recent history off palliative colostomy for anorectal adenocarcinoma. Clinically, we suspected metastasis that was proved on biopsy. We report this case due to the rare presenting site (i.e., perineum of a metastatic adenocarcinoma.

  3. Defining the molecular pathologies in cloaca malformation: similarities between mouse and human

    Directory of Open Access Journals (Sweden)

    Laura A. Runck

    2014-04-01

    Full Text Available Anorectal malformations are congenital anomalies that form a spectrum of disorders, from the most benign type with excellent functional prognosis, to very complex, such as cloaca malformation in females in which the rectum, vagina and urethra fail to develop separately and instead drain via a single common channel into the perineum. The severity of this phenotype suggests that the defect occurs in the early stages of embryonic development of the organs derived from the cloaca. Owing to the inability to directly investigate human embryonic cloaca development, current research has relied on the use of mouse models of anorectal malformations. However, even studies of mouse embryos lack analysis of the earliest stages of cloaca patterning and morphogenesis. Here we compared human and mouse cloaca development and retrospectively identified that early mis-patterning of the embryonic cloaca might underlie the most severe forms of anorectal malformation in humans. In mouse, we identified that defective sonic hedgehog (Shh signaling results in early dorsal-ventral epithelial abnormalities prior to the reported defects in septation. This is manifested by the absence of Sox2 and aberrant expression of keratins in the embryonic cloaca of Shh knockout mice. Shh knockout embryos additionally develop a hypervascular stroma, which is defective in BMP signaling. These epithelial and stromal defects persist later, creating an indeterminate epithelium with molecular alterations in the common channel. We then used these animals to perform a broad comparison with patients with mild-to-severe forms of anorectal malformations including cloaca malformation. We found striking parallels with the Shh mouse model, including nearly identical defective molecular identity of the epithelium and surrounding stroma. Our work strongly suggests that early embryonic cloacal epithelial differentiation defects might be the underlying cause of severe forms of anorectal malformations

  4. Primary Anorectal Melanoma: An Update

    Directory of Open Access Journals (Sweden)

    P Carcoforo, M.T Raiji, G.M Palini, M Pedriali, U Maestroni, G Soliani, A Detroia, M.V Zanzi, A.L Manna, J.G Crompton, R.C Langan, A Stojadinovic, I Avital

    2012-01-01

    Full Text Available The anorectum is a rare anatomic location for primary melanoma. Mucosal melanoma is a distinct biological and clinical entity from the more common cutaneous melanoma. It portrays worse prognosis than cutaneous melanoma, with distant metastases being the overwhelming cause of morbidity and mortality. Surgery is the treatment of choice, but significant controversy exists over the extent of surgical resection. We present an update on the state of the art of anorectal mucosal melanoma. To illustrate the multimodality approach to anorectal melanoma, we present a typical patient.

  5. Anorectal smear in the diagnosis of anorectal adenocarcinoma

    Directory of Open Access Journals (Sweden)

    D Demirel

    2013-01-01

    Full Text Available The purpose of this case report is to point out the diagnostic value of cytologic smears in patients presenting with anorectal complaints, such as bleeding, pain or discomfort, which may suggest a neoplastic lesion. We present a case of a 64-year-old man with a 3 months′ history of anal bleeding and pain during defecation. He was diagnosed as having hemorrhoids and a hemorrhoidectomy was performed. The patient developed an anal stricture postoperatively that required operative dilation. He continued to complain about anorectal pain for 2 months and a subsequent rectoscopy revealed the presence of tumor 5 to 7 cm above the dentate line. The tumor was resected laparoscopically and was reported as an adenocarcinoma. Rectal bleeding recurred 18 months postoperatively and a smear was procured from the anorectal mucosal surface for cytologic evaluation. A definitive diagnosis of adenocarcinoma was rendered based on cytologic and histologic examination of the material. To the best of our knowledge, this is the first case report of anorectal adenocarcinoma diagnosed by cytologic smear in the English literature.

  6. Common anorectal disorders: diagnosis and treatment.

    Science.gov (United States)

    Lacy, Brian E; Weiser, Kirsten

    2009-10-01

    Anorectal disorders affect men and women of all ages. Their management is not limited to the evaluation and treatment of hemorrhoids. Rather, a spectrum of anorectal disorders ranges from benign and irritating (pruritus ani) to potentially life-threatening (anorectal cancer). Symptoms are nonspecific, which can make the evaluation of patients difficult. In addition, treatment can be frustrating because clinicians are hamstrung by a lack of well-designed, prospective, clinical trials. Some of the most common anorectal disorders include fecal incontinence, pelvic floor dyssynergia, anal fissures, pruritus ani, proctalgia fugax, and solitary rectal ulcer syndrome. This article provides an update on the evaluation and treatment of common anorectal disorders.

  7. Chiari Malformation

    Science.gov (United States)

    ... the back of the skull, just above the spine. When a child has a Chiari malformation, the space for the ... a portion of the top vertebra in the spine to reduce pressure in that area. If a child with a Chiari malformation also has hydrocephalus, the ...

  8. Management Of Anorectal Malformation In Children: A 10 Year ...

    African Journals Online (AJOL)

    Bowel control was assessed after three years in 48 patients and classified as good control in 39 (81.3%) and fair in 9 (18.8%) patients. ... Our results can improve further with early presentation of patients, accurate definition of anomalies, careful choice of available techniques and reduced utilization of neonatal colostomy.

  9. Primary anorectoplasty in females with common anorectal malformations without colostomy.

    Science.gov (United States)

    Menon, Prema; Rao, Katragadda Lakshmi Narashima

    2007-06-01

    The objective of this study is to assess the feasibility of primary posterior sagittal anorectoplasty in vestibular fistula without a covering colostomy. Girls presenting from July 1997 to July 2005 with vestibular fistula were included prospectively in the study, in a nonrandomized manner, after excluding those with megarectosigmoid and pouch colon. All underwent primary posterior sagittal anorectoplasty after total gut irrigation with normal saline. They were kept nil per oral until the fifth postoperative day. No patient was started on anal dilatation. Patients were assessed for immediate and delayed complications as well as voluntary bowel movements and continence. A total of 72 patients with an age range of 1.5 months to 8 years (median, 9 months) were studied after excluding 7 with pouch colon and 3 with megarectosigmoid. Of the 72, 3 had undergone previous surgery. Follow-up ranged from 7 months to 8 years. No wound dehiscence or recurrence of fistula was noted. There were 5 mild wound infections. At 1 month postoperative, all patients had 1 to 3 stools per day with no episodes of soiling. None required anal dilatations, laxatives, or enemas. Primary posterior sagittal anorectoplasty in vestibular fistula can be performed without a covering colostomy provided fecal contamination of the wound can be kept to the minimum in the first postoperative week. We achieve this by thorough total gut irrigation preoperatively and keeping the child nil per oral for the first 5 postoperative days. Continence rates are excellent and postoperative constipation is unlikely if megarectosigmoid and pouch colon are ruled out before surgery. Anal dilatation is not required after surgery.

  10. Imaging in anorectal malformations: What does the surgeon need to ...

    African Journals Online (AJOL)

    2015-12-11

    Dec 11, 2015 ... gastrointestinal (5%–10%), and vertebral defects, anal atresia, cardiac defects, tracheo-oesophageal fistula, renal ... Westgarth-Taylor T, Wood. RJ, Levitt MA. .... Abdominal and pelvic US is used to detect any anomalies.

  11. Outcome of patients with anorectal malformations after posterior ...

    African Journals Online (AJOL)

    , vestibular. aDepartment of Surgery, Imam Khomeini Hospital and bAbouzar Children's. Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. Correspondence to Shahnam Askarpour, MD, Department of Surgery, Imam.

  12. Brain Malformations

    Science.gov (United States)

    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, ...

  13. Anesthesia for ambulatory anorectal surgery.

    Science.gov (United States)

    Gudaityte, Jūrate; Marchertiene, Irena; Pavalkis, Dainius

    2004-01-01

    The prevalence of minor anorectal diseases is 4-5% of adult Western population. Operations are performed on ambulatory or 24-hour stay basis. Requirements for ambulatory anesthesia are: rapid onset and recovery, ability to provide quick adjustments during maintenance, lack of intraoperative and postoperative side effects, and cost-effectiveness. Anorectal surgery requires deep levels of anesthesia. The aim is achieved with 1) regional blocks alone or in combination with monitored anesthesia care or 2) deep general anesthesia, usually with muscle relaxants and tracheal intubation. Modern general anesthetics provide smooth, quickly adjustable anesthesia and are a good choice for ambulatory surgery. Popular regional methods are: spinal anesthesia, caudal blockade, posterior perineal blockade and local anesthesia. The trend in regional anesthesia is lowering the dose of local anesthetic, providing selective segmental block. Adjuvants potentiating analgesia are recommended. Postoperative period may be complicated by: 1) severe pain, 2) urinary retention due to common nerve supply, and 3) surgical bleeding. Complications may lead to hospital admission. In conclusion, novel general anesthetics are recommended for ambulatory anorectal surgery. Further studies to determine an optimal dose and method are needed in the group of regional anesthesia.

  14. Anorectal injury in pelvic blast.

    Science.gov (United States)

    Brogden, Tom G; Garner, J P

    2013-03-01

    The signature injury of the Afghanistan campaign has, amongst other things, included an increased incidence of destructive anorectal injury. There is no significant body of evidence about this type of injury on which to base management strategies. This review examines the historical military data, later civilian reports, many of which have challenged the military dogmas of Vietnam, and the spartan contemporaneous military data which does not particularly address pelviperineal blast injury. There is no evidence to support a move away from the doctrine of the four D's (diversion, distal washout, drainage and direct repair), but sound surgical judgement remains the mainstay of managing these challenging and highly morbid injuries.

  15. Arteriovenous Malformations

    Science.gov (United States)

    Arteriovenous malformations (AVMs) are defects in your vascular system. The vascular system includes arteries, veins, and capillaries. Arteries carry blood away from the heart to other organs; veins carry blood back to the heart. Capillaries connect the arteries and veins. An ...

  16. 21 CFR 346.50 - Labeling of anorectal drug products.

    Science.gov (United States)

    2010-04-01

    ... the following: “hemorrhoids,” “anorectal disorders,” “inflamed hemorrhoidal tissues,” “anorectal inflammation,” “hemorrhoidal tissues,” or “piles (hemorrhoids).”)] (2) Additional indications. Indications... and other anorectal disorders” or “irritation in hemorrhoids and other anorectal disorders”). (B...

  17. Anorectal complications in patients with haematological malignancies.

    Science.gov (United States)

    Loureiro, Rafaela V; Borges, Verónica P; Tomé, Ana L; Bernardes, Carlos F; Silva, Mário J; Bettencourt, Maria J

    2018-04-13

    Anorectal complications are common in patients with haematological malignancies. The objectives are to characterize anorectal complications in these patients, identify risk factors and shed light on treatment, morbidity and mortality rates. A retrospective, observational study that included 83 inpatients with haematological malignancies and proctological symptoms from January 2010 to September 2015 was conducted. Clinical outcomes were obtained through a detailed review of medical records. The median age was 56 years, and 52 (62.7%) patients were men. Fifty-six (67.5%) patients had nonseptic anorectal complications and 27 (32.5%) patients had septic anorectal complications. Patients with septic anorectal complications were more commonly male, older, and had lower absolute neutrophil counts, but the differences were not statistically significant (P=0.79, 0.67 and 0.89, respectively). In positive blood cultures [23/70 (32.9%)], Enterococcus faecium, Klebsiella pneumonia, and Escherichia coli were the most common isolated agents. In nonseptic anorectal complications, conservative treatments/minor proctological procedures were adopted, and patients with septic anorectal complications were treated with antibiotics±major proctological procedures and/or surgical drainage/debridement. Forty-eight (85.7%) patients in the nonseptic complications group improved compared with 23 (85.2%) patients in the septic complications group. The overall mortality rate was 2.4% (n=2), with one (1.2%) death related to perianal sepsis. Enterococcus spp. were more commonly identified in this study and can be increasing in this specific population. In contrast to other reports, we did not identify an association between septic anorectal complications and possible risk factors such as male sex, younger age or a low absolute neutrophil count. Most patients had nonseptic anorectal complications. A major proctological procedure/surgical debridement should always be applied in septic complications

  18. Fetal MRI clues to diagnose cloacal malformations

    Energy Technology Data Exchange (ETDEWEB)

    Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Patel, Manish N.; Kraus, Steven [Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States); Levitt, Marc A.; Pena, Alberto [Cincinnati Children' s Hospital Medical Center, Colorectal Center for Children, Pediatric Surgery, Cincinnati, OH (United States); Lim, Foong-Yen; Crombleholme, Timothy M. [Cincinnati Children' s Hospital Medical Center, Fetal Care Center of Cincinnati, Pediatric Surgery, Cincinnati, OH (United States); Linam, Leann E. [Arkansas Children' s Hospital, Department of Radiology, Little Rock, AR (United States)

    2011-09-15

    Prenatal US detection of cloacal malformations is challenging and rarely confirms this diagnosis. To define the prenatal MRI findings in cloacal malformations. We performed a retrospective study of patients with cloacal malformations who had pre- and post-natal assessment at our institution. Fetal MRI was obtained in six singleton pregnancies between 26 and 32 weeks of gestation. Imaging analysis was focused on the distal bowel, the urinary system and the genital tract and compared with postnatal clinical, radiological and surgical diagnoses. The distal bowel was dilated and did not extend below the bladder in five fetuses. They had a long common cloacal channel (3.5-6 cm) and a rectum located over the bladder base. Only one fetus with a posterior cloacal variant had a normal rectum. Three fetuses had increased T2 signal in the bowel and two increased T1/decreased T2 signal bladder content. All had renal anomalies, four had abnormal bladders and two had hydrocolpos. Assessment of the anorectal signal and pelvic anatomy during the third trimester helps to detect cloacal malformations in the fetus. The specificity for this diagnosis was highly increased when bowel fluid or bladder meconium content was identified. (orig.)

  19. [Anorectal pain in children: rare or rarely recognised?].

    Science.gov (United States)

    Sonneveld, Laura J H; Engelberts, Adèle C; van den Elzen, Annette P M

    2016-01-01

    Anorectal pain is a common symptom, often as part of functional gastrointestinal disorders. Children seldom present with this complaint. Proctalgia fugax and chronic proctalgia are both anorectal pain syndromes but differ in duration and frequency of episodes and in pain characteristics. No research has been conducted on anorectal pain syndromes in children. We present two patients. Firstly, an 8-year-old girl who suffered from anorectal cramps. We found no underlying cause apart from constipation. The symptoms disappeared spontaneously. The second concerned an 8-year-old boy who presented with recurrent anorectal cramps. He was diagnosed with celiac disease. Anorectal dysfunction and visceral hypersensitivity have been described in adult celiac patients. Symptoms of anorectal pain in children are rare probably because it often remains unrecognised. Noninvasive diagnostic methods and interventions are preferred in paediatric medicine. Screening for celiac disease in children with anorectal pain episodes should be considered.

  20. Twelve-year prevalence of common neonatal congenital malformations in Zhejiang Province, China.

    Science.gov (United States)

    Sun, Ge; Xu, Zhe-Ming; Liang, Jian-Feng; Li, Lin; Tang, Da-Xing

    2011-11-01

    One of the challenges that pediatricians face when examining birth defects is to understand the trends in its occurrence and provide clues to etiology. This study was undertaken to retrospectively assess the prevalence of 10 common neonatal congenital malformations by reviewing a database of all deliveries from 28 weeks up until 7 days of birth from January 1998 to December 2009 in Zhejiang Province, China. Ten common neonatal congenital malformations were selected for analysis. The incidence and the Cochran-Armitage Trend were assessed via SAS9.2. A P value ≤0.05 was considered statistically significant. Of 83 888 perinatals, 374 (4.46‰) suffered from congenital heart diseases (CHD), 77 (0.92‰) from congenital hydrocephalus, 32 (0.38‰) from intestinal atresia/stenosis, 36 (0.43‰) from anorectal malformations, 149 (1.78‰) from kidney malformations, 139 (3.31‰) from hypospadias (male), 178 (2.12‰) from orofacial clefts (OFC), 188 (2.24‰) from polydactyly, 62 (0.74‰) from syndactyly, and 269 (3.21‰) from accessory auricle anomaly. Their trend of prevalence varied as follows: CHD, P=0.0026; hydrocephalus, P=0.0042; intestinal atresia/stenosis, P=0.0103; anorectal malformations, P=0.4332; kidney malformations, Pmalformations (Pmalformations (P=0.4332), polydactyly (P=0.0867) and syndactyly (P=0.1941). The incidences of CHD, intestinal atresia/stenosis, kidney malformations, hypospadias, OFC, and accessory auricle anomaly have increased in the last 12 years, but the incidences of anorectal malformations, polydactyly and syndactyly remain stable. The incidence of hydrocephalus shows a downward trend.

  1. Treatment and outcomes of anorectal melanoma.

    LENUS (Irish Health Repository)

    Heeney, Anna

    2012-02-01

    INTRODUCTION: anorectal melanoma is an uncommon disease constituting less than 3% of all melanomas. Due to its rarity, there are a lack of randomized control trials regarding appropriate management and current evidence is based mainly on retrospective studies. METHODS: in view of the controversial surgical treatment of anorectal melanoma, we review the most published literature in an attempt to elucidate its typical clinical features along with current thinking with respect to management approaches to this aggressive disease. Using the keywords "anorectal" and "malignant melanoma", a medline search of all articles in English was performed and the relevant articles procured. Additional references were retrieved by cross reference from key articles. RESULTS: anorectal melanoma affects the elderly with a slight preponderance for females. It commonly presents disguised as benign disease with local bleeding or suspicion for haemorrhoidal disease. There is no convincing evidence to indicate that radical resection of primary anorectal melanoma is associated with improvement in local control or survival, and local excision is an acceptable treatment option. CONCLUSION: optimum management depends on several factors and the therapeutic goals should be to lengthen survival and preserve quality-of-life. Given that wide local excision is a more limited intervention with comparable survival it should be considered as the initial treatment choice. Unfortunately prognosis for patients with this disease remains poor despite choice of treatment strategy with overall five year disease-free survival less than twenty percent in most studies.

  2. Functional evaluation of the anorectal region

    International Nuclear Information System (INIS)

    Pomerri, F.; Curtolo, S.; Muzzio, P.C.; Pittarello, F.; Dodi, G.

    1991-01-01

    Defecography is a method allowing the morphodynamic evaluation of the anorectal region. The technique needs two complementary times: 'phase' defecography and dynamic defecography. In the series of patients affected with severe constipation, 2 groups could be identified. Group A included those patients (mean age: 38.7 years) in whom no significant changes were observed in anorectal angle from pubococcygeal line in comparison with normal subjects (student's t-test). Group B included those patients (mean age : 63.3 years) in whom significant reduction was observed in anorectal angle on straining, together with increased distance of anorectal angle from pubococcygeal line on squeezing in comparison with normal subjects (Students t-test). In constipated patients narrowed anal canal was observed (60%), together with rectocele (42.6%), mucosal prolapse (27.8%), rectal prolapse (18%) and solitary ulcer (14.7%). In idiopathic incontonence patients (mean age: 63.3 years), increased distance was observed of anorectal angle from pubococcygeal line on squeezing, in the most severe cases, even at rest, with the patient sitting (Student's t-test). In incontinent patients larger anal canal was observed (67.6%), together with rectocele (36.7%), mucosal prolapse (14.7%), and rectal prolapse (11.7%)

  3. Genetics Home Reference: capillary malformation-arteriovenous malformation syndrome

    Science.gov (United States)

    ... Institute: How the Heart Works National Institute of Neurological Disorders and Stroke: Arteriovenous Malformation Educational Resources (7 links) Boston Children's Hospital: Arteriovenous Malformation Boston Children's Hospital: Capillary Malformation ...

  4. Congenital Malformations Associated with Maternal Diabetes

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2005-03-01

    Full Text Available Maternal diabetes has toxic effects on the development of the embryo and significantly increases the risk of congenital malformations in humans. The incidence of fetal structural defects caused by maternal pregestational diabetes is three- to fourfold higher than that caused by non-diabetic pregnancy. The congenital malformations associated with diabetic pregnancy arise before the seventh gestational week. Diabetic embryopathy can affect any developing organ system, including the central nervous system (CNS (anencephaly, spina bifida, microcephaly, and holoprosencephaly, skeletal system (caudal regression syndrome, sacral agenesis, and limb defects, renal system (renal agenesis, hydronephrosis, and ureteric abnormalities, cardiovascular system (transposition of the great vessels, ventricular septal defects, atrial septal defects, coarctation of the aorta, cardiomyopathy, and single umbilical artery, and gastrointestinal system (duodenal atresia, anorectal atresia, and small left colon syndrome. Pregnant women with fetuses with diabetic embryopathy may have chronic or unrecognized hyperglycemia and elevated levels of glycerated hemoglobin. This review emphasizes the necessity to consider hyperglycemia-induced teratogenesis during genetic counseling of parents with prenatally detected fetal malformations. Successful preconception counseling for women with diabetes mellitus and metabolic control will reduce birth defects and maternal morbidity.

  5. Vascular malformations in pediatrics

    International Nuclear Information System (INIS)

    Reith, W.; Shamdeen, M.G.

    2003-01-01

    Vascular malformations are the cause of nearly all non-traumatic intracranial hemorrhage in children beyond the neonatal stage. Therefore, any child presenting with spontaneous intracranial hemorrhage should be evaluated for child abuse and for vascular malformations. Intracerebral malformations of the cerebral vasculature include vein of Galen malformations, arteriovenous malformation (AVM), cavernomas, dural arteriovenous fistulas, venous anomalies (DVA), and capillary teleangiectasies. Although a few familial vascular malformation have been reported, the majority are sporadic. Clinical symptoms, diagnostic and therapeutic options are discussed. (orig.) [de

  6. Approach to Malign Melanoma in Anorectal Area

    Directory of Open Access Journals (Sweden)

    Huseyin Pulat

    2014-12-01

    Full Text Available Aim: Anorectal malign melanoma comprise 0.2-1 % of all malign melanoma. They are extremely aggressive. Most patients are lost beacuse of incurable systemic illness. In our study, we aim to evaluate the results of surgical and oncological follow-up of our patients that we operated because of anorectal malign melanoma. Material and Method: Our 4 patients operated because of anorectal malign melanoma between October 2008 and April 2013 were analysed. The patients were analysed in terms of demographic datas, complaint and its time, physical examination and imaging findings, treatment procedure, local recurrence or presence of metastasis and follow-up results.Results: Our study group comprised 4 people (2 men and 2 women with the mean age of 64,2 years. The main complaint was rectal bleeding. The avarage complaint duration was 7.5 months. In all patients, anorectal mass was detected after physical examination and imaging studies. Biopsies of the mass were reported to be consistent with malign melanoma. With the further studies, one patient was detected to have metastasis in liver. Abdominoperineal resection was applied to one patient after wide local excision and to three patients during the first aplication. The avarage follow-up time was 19,25 months. The avarage diameter of tumor was 3,9 cm. One patient was applied lymph node dissection because of recurrence in iliac region. The avarage stay time at hospital of the patients who had no postoperative problems was 9,7 days. During follow-up time, three of the patients died because of common metastasis. A patient followed regularly is still continuing his life without illness in his postoperative 22nd month. Discussion: Anorectal malign melanoma is a rare, with a bad prognosis and a late diagnosed entity as it has a similarity with benign illnesses which are mostly seen in anorectal area in terms of clinical symptoma. To correct the prognosis of the illness, the suitable surgery and adjuvant treatment

  7. What every gastroenterologist needs to know about common anorectal disorders

    Institute of Scientific and Technical Information of China (English)

    Moonkyung Cho Schubert; Subbaramiah Sridhar; Robert R Schade; Steven D Wexner

    2009-01-01

    Anorectal complaints are very common and are caused by a variety of mostly benign anorectal disorders. Many anorectal conditions may be successfully treated by primary care physicians in the outpatient setting,but patients tend not to seek medical attention due to embarrassment or fear of cancer. As a result,patients frequently present with advanced disease after experiencing significant decreases in quality of life. A number of patients with anorectal complaints are referred to gastroenterologists. However,gastroenterologists' knowledge and experience in approaching these conditions may not be sufficient.This article can serve as a guide to gastroenterologists to recognize, evaluate, and manage medically or nonsurgically common benign anorectal disorders, and to identify when surgical referrals are most prudent.A review of the current literature is performed to evaluate comprehensive clinical pearls and management guidelines for each topic. Topics reviewed include hemorrhoids, anal fissures, anorectal fistulas and abscesses, and pruritus ani.

  8. Is anorectal endosonography valuable in dyschesia?

    Science.gov (United States)

    Van Outryve, S M; Van Outryve, M J; De Winter, B Y; Pelckmans, P A

    2002-01-01

    Aims: Dyschesia can be provoked by inappropriate defecation movements. The aim of this prospective study was to demonstrate dysfunction of the anal sphincter and/or the musculus (m.) puborectalis in patients with dyschesia using anorectal endosonography. Methods: Twenty consecutive patients with a medical history of dyschesia and a control group of 20 healthy subjects underwent linear anorectal endosonography (Toshiba models IUV 5060 and PVL-625 RT). In both groups, the dimensions of the anal sphincter and the m. puborectalis were measured at rest, and during voluntary squeezing and straining. Statistical analysis was performed within and between the two groups. Results: The anal sphincter became paradoxically shorter and/or thicker during straining (versus the resting state) in 85% of patients but in only 35% of control subjects. Changes in sphincter length were statistically significantly different (panismus”. PMID:12377809

  9. Anorectal Physiology/Pathophysiology in the Elderly

    OpenAIRE

    Yu, Siegfried W.B.; Rao, SSC

    2014-01-01

    The U.S. elderly population (≥85 years old) is estimated to increase from 5 to 20 million people between the years 2000 to 2050. Among the medical disorders facing the elderly, anorectal problems are not only highly prevalent, but cause significant morbidity and mortality, and have deleterious effects on health care burden and quality of life. These include disorders such as fecal incontinence, fecal impaction with overflow fecal incontinence, chronic constipation, dyssynergic defecation, hem...

  10. Correlation of anorectal electromanometry and anorectal three-dimensional ultrasound findings in patients with fecal incontinence

    Directory of Open Access Journals (Sweden)

    Tracy Mary Betinardi

    2015-10-01

    Full Text Available Objective: To show the correlation of anorectal electromanometry and three-dimensional anorectal ultrasonography in patients with fecal incontinence. Method: Prospective study involving 34 women (mean age: 55 years with a diagnosis of fecal incontinence. The samples were submitted to three-dimensional anorectal ultrasonography/Echodefecography and anorectal electromanometry. Results: Based on anorectal electromanometry data, 70.5% of 34 patients had hypotonia at rest, 64.7% had hypotonic contraction, 52.9% had both hypotonia at rest and hypotonic contraction, and 44.1% had anismus. By three-dimensional anorectal ultrasonography, 32.3% had internal anal sphincter injury, 79.4% had external anal sphincter injures, and 26.4% had both internal and external anal sphincter injuries. In 38.2%, anismus was suggested and 50% showed rectocele. Overall, only 5.8% had normal results for anorectal electromanometry combined with three-dimensional anorectal ultrasonography. Kappa index was 0.297 and the presence of anismus through anorectal electromanometry and three-dimensional anorectal ultrasonography was compared by Student's t test application, with p < 0.0001. Conclusion: We conclude that there was a reasonable agreement in the comparison of sphincter hypotonia by anorectal manometry and sphincter injury by anorectal three-dimensional ultrasonography in a group of patients with fecal incontinence. The incidence of anismus in patients with fecal incontinence is considerable, and the therapeutic approach in these patients should be modified. Resumo: Objetivo: Demonstrar a correlação entre eletromanometria anorretal (EMAR e ultrassonografia tridimensional anorretal (3D-US em pacientes com incontinência fecal. Método: Estudo prospectivo envolvendo 34 mulheres (media de idade: 55 anos com diagnóstico de incontinência fecal. As amostras foram submetidas à 3D-US/Ecodefecografia e EMAR. Resultados: Com base nos dados de EMAR, 70,5% das 34 pacientes

  11. Congenital pouch colon: Increasing association with low anorectal anomalies

    Directory of Open Access Journals (Sweden)

    Pavai Arunachalam

    2009-01-01

    Full Text Available Three cases of type IV congenital pouch colon associated with low anorectal anomaly are reported here. Pouch colon may be a cause of intractable constipation in children operated for low anorectal anomaly. Excellent results can be obtained by exicision of the pouch. The radiological and pathological features of this condition are discussed.

  12. Laparoscopically assisted anorectal pull-through for rectovestibular ...

    African Journals Online (AJOL)

    Laparoscopically assisted anorectal pull-through for rectovestibular fistula. Taha Alkhatrawi, Radi Elsherbini, Waheed Alturkistani. Abstract. Purpose Laparoscopically assisted anorectal pull-through (LAARP) has been described as an alternative to posterior sagittal anorectoplasty for the surgical treatment of rectourethral ...

  13. DMBT1 expression distinguishes anorectal from cutaneous melanoma

    DEFF Research Database (Denmark)

    Helmke, Burkhard Maria; Renner, Marcus; Poustka, Annemarie

    2009-01-01

    tumours 1 (DMBT1) in cases of primary anorectal malignant melanoma and CM. METHODS AND RESULTS: Expression analyses of classical immunohistochemical markers (S100, HMB45, Melan A and MiTF) and of the protein DMBT1 were carried out in 27 cases of primary anorectal malignant melanoma and 26 cases of CM. All...

  14. Aortic arch malformations

    Energy Technology Data Exchange (ETDEWEB)

    Kellenberger, Christian J. [University Children' s Hospital, Department of Diagnostic Imaging, Zuerich (Switzerland)

    2010-06-15

    Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring. In this article, the development and imaging appearance of the aortic arch system and its various malformations are reviewed. (orig.)

  15. Dandy-Walker Malformation

    African Journals Online (AJOL)

    rme

    Dandy-Walker malformation is a rare congenital malformation and involves the cerebellum and fourth ventricle. The condition is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be ...

  16. Aortic arch malformations

    International Nuclear Information System (INIS)

    Kellenberger, Christian J.

    2010-01-01

    Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring. In this article, the development and imaging appearance of the aortic arch system and its various malformations are reviewed. (orig.)

  17. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Ertl-Wagner, B.B.; Reiser, M.F.

    2001-01-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [de

  18. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge

    2007-01-01

    AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

  19. Cardiac and vascular malformations

    International Nuclear Information System (INIS)

    Ley, S.; Ley-Zaporozhan, J.

    2015-01-01

    Malformations of the heart and great vessels show a high degree of variation. There are numerous variants and defects with only few clinical manifestations and are only detected by chance, such as a persistent left superior vena cava or a partial anomalous pulmonary venous connection. Other cardiovascular malformations are manifested directly after birth and need prompt mostly surgical interventions. At this point in time echocardiography is the diagnostic modality of choice for morphological and functional characterization of malformations. Additional imaging using computed tomography (CT) or magnetic resonance imaging (MRI) is only required in a minority of cases. If so, the small anatomical structures, the physiological tachycardia and tachypnea are a challenge for imaging modalities and strategies. This review article presents the most frequent vascular, cardiac and complex cardiovascular malformations independent of the first line diagnostic imaging modality. (orig.) [de

  20. Congenital Vascular Malformation

    Science.gov (United States)

    ... also be effective for small, localized birthmarks (port wine stains). Patients with a rare venous malformation (Kleppel–Trenaunay Syndrome) of the limbs, frequently benefit from elastic garments and bandages used for com- ...

  1. Supratentorial CNS malformations

    International Nuclear Information System (INIS)

    Zlatareva, D.

    2012-01-01

    Full text: Clinical suspicion of a developmental anomaly of the central nervous system (CNS) is a frequent indication for performing and magnetic resonance imaging (MRI) examination of the brain. Classification systems for malformation of the CNS are constantly revised according to newer scientific research. Developmental abnormalities can be classified in two main types. The first category consists of disorders of organogenesis in which genetic defects or any ischemic, metabolic, toxic or infectious insult to the developing brain can cause malformation. These malformations result from abnormal neuronal and glial proliferation and from anomalies of neuronal migration and or cortical organization. They are divided into supra- and infratentorial and may involve grey or white matter or both. The second category of congenital brain abnormalities is disorders of histogenesis which result from abnormal cell differentiation with a relatively normal brain appearance. Supratentorial CNS malformations could be divided into anomalies in telencephalic commissure, holoprosencephalies and malformations in cortical development. There are three main telencephalic commissures: the anterior commissure, the hippocampal commissure and the corpus callosum. Their morphology (hypoplasia, hyperplasia, agenesis, dysgenesis, even atrophy) reflects the development of the brain. Their agenesis, complete or partial, is one of the most commonly observed features in the malformations of the brain and is a part of many syndromes. Malformations of cortical development (MCD) are heterogeneous group of disease which result from disruption of 3 main stages of cortical development. The common clinical presentation is refractory epilepsy and or developmental delay. The most common MCD are heterotopias, focal cortical dysplasia, polymicrogyria, schizencephaly, pachygyria and lizencephaly. The exact knowledge of the brain anatomy and embryology is mandatory to provide a better apprehension of the

  2. Effectiveness of the bowel management program in children with constipation secondary to anorectal malformation

    Directory of Open Access Journals (Sweden)

    Karla A. Santos Jasso

    2014-07-01

    with the condition were included. Results: of 151 children with ARM monitored in outpatient service, only 67.33% had constipation. Of this group, 88.1% showed good response to the BMP. The average dose of sennoside was 8.45 mg/kg, 95% CI: 5.94-11.12 mg/kg (199.5 mg total dose; 95% CI: 139.50-259.50 mg. Abdominal cramp was the primary adverse effect reported (5.8%. Discussion: use of sennosides had a positive impact on our patients’ quality of life by achieving colonic and rectal emptying and preventing daily fecal staining.

  3. POSTOPERATIVE ABNORMALITIES OF INTESTINE AND FACILITIES OF IT'S CORRECTION IN CHILDREN WITH ANORECTAL MALFORMATION

    Directory of Open Access Journals (Sweden)

    U.Sh. Karimov

    2007-01-01

    Full Text Available In abstract the authors represent the observation after 114 patients in age from 1 till 14 years passing the treatment last 15 years. All of them were been operated in cause of an rectal abnormality and suffering by dysfunction of terminal part of intestine and unsuccessful treatment of medics of different specification. Authors developed the principles of treatment accounting peculiarity and type of dysfunction, which noticeably improve the results of treatment.Key words: congenital abnormality of an rectal zone, motility disturbances of large intestine, children.

  4. Two-stage repair of low anorectal malformations in girls: is it truly a ...

    African Journals Online (AJOL)

    continence in these children because of wound dehiscence and infection; thus, protective colostomy may still be ... the protective effect on wound healing after anal reconstruction. The aim of this study was to define ... Pena [3] introduced the PSARP for infants and children with ARM. They advocated performing a colostomy ...

  5. Anorectal malformation associated with a perineal protrusion of the rectal mucosa: case presentation.

    Science.gov (United States)

    Shinkai, Masato; Mochizuki, Kyoko; Hirata, Yoshihiro; Honda, Shohei; Kitagawa, Norihiko; Take, Hiroshi; Ohhama, Youkatsu; Tanaka, Mio; Tanaka, Yukichi

    2009-09-01

    We present a rare case of a female neonate with an imperforate anus associated with a perineal mass which may correspond to an extrophied rectal duplication. Associated anomalies were thoracic hemivertebrae and a multicystic dysplastic kidney. Excision of the perineal lesion followed by anal transplantation and perineal reconstruction corrected the anomaly.

  6. Outcome in anorectal malformation type rectovesical fistula : a nationwide cohort study in The Netherlands

    NARCIS (Netherlands)

    van der Steeg, H. J. J.; Botden, S. M. B. I.; Sloots, C. E. J.; van der Steeg, A. F. W.; Broens, P. M. A.; van Heurn, L. W. E.; Travassos, D. V.; van Rooij, I. A. L. M.; de Blaauw, I.

    Purpose: Outcomes of patients with an ARM-type rectovesical fistula are scarcely reported in medical literature. This study evaluates associated congenital anomalies and long-term colorectal and urological outcome in this group of ARM-patients. Methods: A retrospective Dutch cohort study on patients

  7. Impact of Low Anorectal Malformation on Parenting Stress: A Mixed-Method Study.

    Science.gov (United States)

    Wigander, Helena; Öjmyr-Joelsson, Maria; Frenckner, Björn; Wester, Tomas; Nisell, Margret

    2018-05-17

    The purpose of this study was to investigate parenting stress among parents of children with low ARM. 1) Compare parenting stress among parents of children with low ARM, with parents of healthy children using questionnaires. 2) Identify subscales within the questionnaire which needed to be further explored. 3) Use semi-structured interviews with parents of children with low ARM, to explore parenting stress and to explain, expand and or support the quantitative findings. An explanatory sequential mixed methods design was used in this follow up study. The parents completed the Swedish Parenthood Stress Questionnaire (SPSQ), semi-structured interviews were conducted. Fifteen mothers and 13 fathers of children with low ARM age 8-18, returned completed questionnaires. A control group of 17 mothers and 6 fathers of healthy children age 8-18 that had visited the hospital for a minor procedure was recruited for comparison purposes. There were no significant differences found between index group and controls except in the subscale Incompetence, where parents of children with low ARM reported lower levels of stress compared to controls. Nine semi-structured interviews were conducted with parents of children with low ARM. Qualitative content analysis was used and revealed three themes - Communication between parents, Expectations of parenthood, and Challenges concerning parenthood. Parents of children with low ARM did not report high levels of stress. When interviewed, they told about earlier experiences of emotional stress, feelings of guilt, and chaos at the time the child was born and during infancy. Copyright © 2018. Published by Elsevier Inc.

  8. Recent advances in MRI in the preoperative assessment of anorectal malformations

    Directory of Open Access Journals (Sweden)

    Rania Farouk Elsayed

    2016-09-01

    Conclusion: MRI is a valuable diagnostic tool to diagnose type and level of ARM in addition to the privilege of associated anomalies detection on the same examination. The 3D sequence acquisition with multiplanar reconstruction has the advantage of time saving without compromise on image quality or the diagnostic accuracy compared to 2D images.

  9. Postoperative MR evaluation of the neorectum in patients with congenital anorectal malformations

    International Nuclear Information System (INIS)

    Hedlund, G.L.; Bisset, G.S.

    1989-01-01

    Five patients with an original diagnosis of supralevator anal atresia had fecal incontinence following pull-through procedures. The imaging evaluation initially included barium enema and MR studies. Perineal electrostimulation data were also obtained. MR imaging was performed with a 1.5-T system. A tuberculin syringe filled with chloral hydrate was inserted into the neorectum to serve as a high-signal-intensity lumen marker. T1-weighted images were obtained in the sagittal, coronal, and axial planes with a spin-echo pulse sequence 60/20 (repetition time msec). The neorectum was determined to be centrally positioned or eccentrically placed within the external anal sphincter and puborectalis muscles. Prospectively, MR imaging accurately indicated the position of the neorectum relative to the sphincteric muscular complex. Perineal electrostimulation data were concordant with MR findings in all patients. Barium enema was helpful in one patient with rectal stricture at the pull-through site. The authors discuss how MR imaging of the postoperative neorectum in patients with fecal incontinence provides useful information in planning the surgical revision

  10. Rare malformation of glans penis: arteriovenous malformation.

    Science.gov (United States)

    Akin, Y; Sarac, M; Yucel, S

    2013-01-01

    Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being followed up. The second case is a 2-year-old boy who was admitted with a big lesion involving glans penis and genital area that has been present since birth. In physical and radiological evaluations, lesion on the glans penis was pulsatile. Parents of the patient did not want any surgery and patient has been in follow-up. Diagnosis of the vascular lesions on glans penis is very easy by physical and radiological examinations today. Long-term follow-up is very important for AVM. Clinicians must make a careful effort to document new glans lesions in the pediatric population and decrease anxiety in the parents of affected children.

  11. Scintigraphic defecography in various anorectal disorders

    Energy Technology Data Exchange (ETDEWEB)

    Ishii, Yuji; Oya, Masatoshi; Ishikawa, Hiroshi [Dokkyo Univ., School of Medicine, Saitama (Japan). Koshigaya Hospital

    1998-04-01

    Scintigraphic defecography was performed using {sup 99m}Tc-DATA to quantitatively evaluate defecation in 26 patients after low anterior resection of rectal cancer (LAP-group), 19 patients with chronic constipation (C-group), 11 patients with miscellaneous anal symptoms (AN-group), and 12 normal volunteers. After introducing semi-solid artificial stool containing {sup 99m}Tc-DTPA into the rectum, right lateral images of the anorectum were serially obtained during voluntary evacuation. From the time activity curve of the whole rectum, the half emptying time (T1/2) and the percentage of rectal evacuation (evacuation ratio) were calculated. Three abnormal patterns were identified: the flat type in which a temporary elevation of the RI activity, usually recorded in normal volunteers at the beginning of evacuation, was not recorded; the slow type in which T1/2 was over 20 seconds; and the poor evacuation type in which evacuation ratio was less than 80%. In the LAR-group, all the patients having very low anastomosis showed abnormal patterns irrespective of the type of reconstruction (straight or colonic J-pouch). In the C-group, 10 patients who had either slow pattern or poor evacuation pattern were suggested to have outlet obstruction. In the AN-group, the evacuation pattern differed from patient to patient. Scintigraphic defecography is useful in identifying abnormal evacuation in various anorectal disorders. (author)

  12. Scintigraphic defecography in various anorectal disorders

    International Nuclear Information System (INIS)

    Ishii, Yuji; Oya, Masatoshi; Ishikawa, Hiroshi

    1998-01-01

    Scintigraphic defecography was performed using 99m Tc-DATA to quantitatively evaluate defecation in 26 patients after low anterior resection of rectal cancer (LAP-group), 19 patients with chronic constipation (C-group), 11 patients with miscellaneous anal symptoms (AN-group), and 12 normal volunteers. After introducing semi-solid artificial stool containing 99m Tc-DTPA into the rectum, right lateral images of the anorectum were serially obtained during voluntary evacuation. From the time activity curve of the whole rectum, the half emptying time (T1/2) and the percentage of rectal evacuation (evacuation ratio) were calculated. Three abnormal patterns were identified: the flat type in which a temporary elevation of the RI activity, usually recorded in normal volunteers at the beginning of evacuation, was not recorded; the slow type in which T1/2 was over 20 seconds; and the poor evacuation type in which evacuation ratio was less than 80%. In the LAR-group, all the patients having very low anastomosis showed abnormal patterns irrespective of the type of reconstruction (straight or colonic J-pouch). In the C-group, 10 patients who had either slow pattern or poor evacuation pattern were suggested to have outlet obstruction. In the AN-group, the evacuation pattern differed from patient to patient. Scintigraphic defecography is useful in identifying abnormal evacuation in various anorectal disorders. (author)

  13. MRI of the brain: malformations

    International Nuclear Information System (INIS)

    Treguier, C.; Heautot, J.F.; Gandon, Y.; Carsin, M.; Buhe, T.; Weppe, V.

    1990-01-01

    Brain malformations include occlusion, diverticula, neuronal migration abnormalities, cystic malformations, and histogenetic disorders in neurocutaneous syndromes. The multiple planes of section, excellent white/gray matter differentiation and accurate delineation of the brain cortex available with magnetic resonance imaging make it a tool of choice for the diagnosis of malformations, as well as for prognosis and genetic counseling [fr

  14. Intracranial arteriovenous malformation. Contralateral steal phenomena

    Energy Technology Data Exchange (ETDEWEB)

    Batjer, H H; Devous, M D; Seibert, G B; Purdy, P D; Ajmani, A K; Delarosa, M; Bonte, F J [Texas Univ., Dallas, TX (USA). Southwestern Medical Center

    1989-05-01

    Sixty-two patients with radiographically proven intracranial arteriovenous malformations underwent preoperative regional cerebral blood flow measurement with {sup 133}Xe signal-photon emission computed tomography. Contralateral regions of hypoperfusion were deteceted in all cases. Steal severity was assessed according to the contralateral steal index (ISteal(c)). ISteal(c) was < 0.7 (severe) in 22 (35%), 0.7-0.8 (intermediate) in 18 (29%), and > 0.8 (mild) in 22 (35%). ISteal(c) was more frequently severe or mild in females and more often intermediate in males in males (p < 0.05). Hyperemic complications were encountered more frequently in patients with intermediate ISteal(c) (p = 0.086). An unfavorable outcome was associated with less severe contralateral steal (p = 0.12). A detailed clinical, radiographic, and hemodynamic profile may help to preperatively identify patients at high risk for a poor surgical outcome. (author).

  15. Congenital cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Chaudhry, A.K.; Azam, M.; Maqsood, R.; Naz, B.; Salam, A.

    2003-01-01

    This case report presents the clinical picture, diagnostic methodology and surgical treatment of a female child who presented with chronic cough and dyspnoea due to congenital malformation of lung. A discussion of diagnosis and management is presented at the end. (author)

  16. First-trimester in utero exposure to anorectics: a French collaborative study with special reference to dexfenfluramine.

    Science.gov (United States)

    Vial, T; Robert, E; Carlier, P; Bertolotti, E; Brun, A

    1992-01-01

    A collaborative study with 8 Teratology Information Centres was undertaken to collect data on anorectic exposures (amfepramone, clobenzorex, dexfenfluramine, fenfluramine, fenproporex) during pregnancy. Two hundred and ninety seven prospective enquiries were analysed of which 285 exposures occurred during the first trimester. Outcome of pregnancy was known for 164 of these cases. Voluntary or medical abortion was decided in 30 cases (18%), spontaneous abortion occurred in 14 cases (8.5%), extrauterine pregnancy in 1 patient and fetal death following drug abuse in another. A normal infant was delivered in 111 cases (68%). Low birthweight was identified in 1 case and neonatal complications in 2 cases. Various congenital abnormalities were noted in 4 cases (1 minor and 3 major), with no clear cause-effect relationship (2 amfepramone, 1 fenproporex and 1 dexfenfluramine). Although the number of exposed pregnancies in this cohort was too small to rule out any increase in teratogenic effects of anorectics, the results of this survey suggest that the risk for malformations, especially for dexfenfluramine is probably not greater than the 2-3% risk for pregnancies in the general population. Morover, these results provide substantial information for future enquiries about exposure to such medication during organogenesis.

  17. Radiosurgery for brain arteriovenous malformations

    International Nuclear Information System (INIS)

    Latorzeff, I.; Schlienger, M.; Sabatier, J.; Borius, P.Y.; Lotterie, J.A.; Bourdin, S.; Menegalli, D.; Cognard, C.; Januel, A.C.; Desal, H.; Debono, B.; Blond, S.

    2012-01-01

    Radiosurgery as treatment for arteriovenous malformations has shown a good efficacy in reducing intracranial bleeding due to rupture. The choice of therapeutic modalities is based on evolutive risk and arteriovenous malformations volume, patient profile and risks stratification following therapeutic techniques (microsurgery, radiosurgery, embolization). Nidus size, arteriovenous malformations anatomical localization, prior embolization or bleeding, distributed dose are predictive factors for radio-surgery's good results and tolerance. This review article will highlight arteriovenous malformations radiosurgery indications and discuss recent irradiation alternatives for large arteriovenous malformation volumes. (authors)

  18. [Anorectal manifestations of sexually transmitted infections].

    Science.gov (United States)

    Lautenschlager, Stephan

    2013-07-01

    The incidence of sexually transmitted infections is rising in Europe and in Switzerland since the beginning of the third millenium. Many organisms may affect the perianal skin and the anorectum. While some of these infections are a result of contigous spread from genital infection, most result from receptive anal intercourse affecting males who have sex with males but is seen increasingly in females as well since there is evidence of the increasing popularity of anal sex among heterosexuals. The symptoms of specific infections are largely dependent on the route and site of inoculation. Organisms that cause typical genital symptoms - such as syphilis, chancroid, herpes simplex or HPV-infection - result in similar symptoms when the perianal skin, the anoderm or the distal anal canal are the site of infection. Patients with proctitis may have unspecific signs in various degrees including mucous discharge, rectal bleeding, anorectal pain, superficial ulcers and sometimes generalized lymphadenopathy and fever. It is of utmost importance to include STIs (e. g. lymphogranuloma venereum, gonorrhea, non-LGV-chlamydia and herpes simplex) in the differential diagnosis in these patients. Unfortunately rectal infection with chlamydia and gonorrhea is asymptomatic in the majority of cases of men having sex with men and in high-risk females. A careful history and physical examination is essential in establishing a correct diagnosis, usually supported by proctoscopy, culture, PCR, serology and histology. Certain organisms, more commonly thought of as food- or water-borne disease may be sexually transmitted by direct or indirect fecal-oral contact from various sexual practices.

  19. Evaluation of the anorectal sphincter using MRI

    International Nuclear Information System (INIS)

    Kohda, Ehiichi

    1994-01-01

    Until now the evaluation of how to function on the sphincter muscle complex on the imaging study has been done by defecography. The purpose of this paper is to show the normal and abnormal functions of sphincter muscle complex at rest and squeeze using MRI. The subjects were 15 volunteers with informed consent and 13 post operative patients with a history anorectal anomalies. MR images were obtained with a 1.5 T unit. Sagittal and axial planes were evaluated both at rest and squeeze. Squeeze was simulated by insufflating a rectal balloon or enema on the volunteers. Only light stimulation was stressed on the post operative patients by means of balloon insufflation with 50 ml air. Under balloon stimulation, 71% of normal sphincter muscle complexes contracted only transverse dimention. The rest was as is. None revealed significant distension. All patients with continence demonstrated the same transverse contraction. Patients with incontinence showed no significant contraction. Under enema stimulation for normal subjects, sphincter muscle complex distended on both dimensions. Gluteal muscle contracted 50% of volunteers under enema stimulation. All post operative patients with continence demonstrated gluteal muscles contractions. Normal sphincter muscle complex contracts only in transverse dimension under balloon stimulation, which is caused by the muscle. Under enema stimulation, it distends on both dimensions. Gluteal muscle contract only under enema stimulation. In post operative patients, MRI shows different functions of anal sphincter muscle complex between continent and incontinent groups. It may explain causes of incontinence. The gluteal muscle and puborectal muscle seem to have one of the essentials for continence. (author)

  20. Patient characteristics and treatment outcome in functional anorectal pain.

    Science.gov (United States)

    Atkin, Gary K; Suliman, Amna; Vaizey, Carolynne J

    2011-07-01

    Functional anorectal pain occurs in the absence of any clinical abnormality. It is common and disabling; it has previously been reported in only a few studies involving small patient numbers. This study aimed to report the clinical characteristics and treatment outcomes for patients with functional anorectal pain. Patient demographics, clinical history, and tests results for all referrals for anorectal physiological testing between 1997 and 2009 were prospectively recorded. For patients with functional anorectal pain, further information was gained from clinical notes. Clinical history, anorectal physiology, and radiological imaging data were recorded for all patients; treatment outcome was noted for patients treated and followed up at the present unit. One hundred seventy patients, 99 female, with a median age of 48 years (range, 18-86), were studied. Patients were classified as having chronic proctalgia (pain duration ≥20 min, 158 patients) or proctalgia fugax (pain duration proctalgia fugax had a higher internal anal sphincter thickness and resting pressure than patients with chronic proctalgia, whereas patients with a family history of similar symptoms were more likely to have proctalgia fugax and higher resting pressures and internal anal sphincter thickness compared with those without a family history of these symptoms. Patients referred for treatment underwent a range of interventions including biofeedback (29 patients, 17 improved), tricyclic antidepressants (26 patients, 10 improved), Botox injection (9 patients, 5 improved), and sacral nerve stimulation (3 patients, 2 improved). Biofeedback had the greatest treatment effect, especially in patients with defecatory dysfunction. Biofeedback is beneficial in the subset of patients with functional anorectal pain and difficulty with defecation. Tricyclic antidepressants, Botox, and sacral nerve stimulation may also have a role.

  1. Qualitative assessment of anorectal junction levels and anorectal angles to investigate functional differences between constipation and fecal incontinence

    International Nuclear Information System (INIS)

    Shannon, S.I.; Somers, S.; Anvari, M.; Stevenson, G.W.; Waterfall, W.E.; Huizinga, J.D.

    1989-01-01

    Female patients consecutively referred for defecography, with either chronic constipation or incontinence, were assessed for posterior anorectal angle and anorectal junction level as measured from the ischial tuberosities. The clinical groups did not differ in grades of rectoceles, enteroceles, or intussusception. Both constipated and incontinent patients had a low resting anorectal junction position compared with that of volunteers, indicating a stretched pelvic floor. Despite this, the constipated patients achieved a similar degree of lift of the pelvic floor on squeezing as controls, and they also showed significant angle changes on lifting and straining. Incontinent patients showed a significantly smaller amount of lift than controls, a significantly larger descent than constipated patients, and no angle changes on lifting and straining. These data are consistent with significantly weaker pelvic floor muscles in incontinent compared with constipated patients, despite a similar degree of stretching

  2. Dietary non-esterified oleic Acid decreases the jejunal levels of anorectic N-acylethanolamines

    DEFF Research Database (Denmark)

    Diep, Thi Ai; Madsen, Andreas N; Krogh-Hansen, Sandra

    2014-01-01

    mice respond to dietary fat (olive oil) by reducing levels of anorectic NAEs, and 3) whether dietary non-esterified oleic acid also can decrease levels of anorectic NAEs in mice. We are searching for the fat sensor in the intestine, which mediates the decreased levels of anorectic NAEs. METHODS: Male...... of anorectic NAEs in mice. CONCLUSIONS: These results suggest that the down-regulation of the jejunal level of anorectic NAEs by dietary fat is not restricted to rats, and that the fatty acid component oleic acid, in dietary olive oil may be sufficient to mediate this regulation. Thus, a fatty acid sensor may...

  3. Congenital cystic lung malformations

    International Nuclear Information System (INIS)

    Stoever, B.; Scheer, I.; Bassir, C.; Chaoui, R.; Henrich, W.; Schwabe, M.; Wauer, R.

    2006-01-01

    Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

  4. Arteriovenous malformation of face

    Directory of Open Access Journals (Sweden)

    Ashok Kumar

    2017-01-01

    Full Text Available Arteriovenous malformations (AVMs are rare congenital vascular malformations accounting only 1.5% of all vascular anomalies with 50% occurrence in the oral and maxillofacial region. It usually results from birth defects of the vasculature. A literature search revealed only few case reports of AVMs in the facial region. Lack of meticulous diagnosis, scarcity of knowledge, and paucity of literature can result in their exsanguinations leading to fatal hemorrhagic incidents after various dental procedures such as tooth extraction, surgical intervention, puncture wound, or blunt injury in involved area. The present case describes the accidental diagnosis of asymptomatic high-flow AVMs in the facial region of pediatric patient reported primarily for the treatment of periapical abscess. This case report is unique because although there was no history of bleeding episodes, thorough examination and investigations diagnosed it as high-flow vascular malformation. It is important for the dental practitioner to be aware of AVM which may be present in the head and neck region that can produce fatal bleeding episodes during various dental procedures. Proper diagnosis of AVMs through complete history, precise clinical examination, and advanced imaging modalities can help in preventing serious life-threatening complications.

  5. The Pattern of Surgically Treatable Anorectal Diseases in University ...

    African Journals Online (AJOL)

    PATIENTS AND METHODS: This is a 4 year retrospective study of all adult patients with anorectal diseases who were admitted into the surgical wards of University of Port Harcourt Teaching Hospital. Relevant data were retrieved and analyzed. RESULTS: One hundred and fifty cases were seen over the 4 year period.

  6. [Anorectal injury after a fall from a jet ski

    NARCIS (Netherlands)

    Nieboer, T.E.; Assmann, R.F.; Withagen, M.I.J.; Geeraedts, L.M.G.

    2007-01-01

    A 28-year-old female sustained an anorectal rupture after a fall from a jet ski. The rupture was sutured and a double-loop colostomy was created. Three months later, following a test of functional continence, the colostomy was removed. The patient recovered without complications and with

  7. Importance of anorectal manometry after defi nitive surgery for ...

    African Journals Online (AJOL)

    Post-operative enterocolitis or severe constipation was observed in seven patients (38.8%). There were no patients with incontinence. Eighteen patients underwent anorectal manometry meanly 2 years after defi nitive operation. RAIR was absent in 14 (77.7%) patients and abnormal in 4 (22.2%). There were no signifi cant ...

  8. Plasma galanin concentrations in obese, normal weight and anorectic women.

    Science.gov (United States)

    Invitti, C; Brunani, A; Pasqualinotto, L; Dubini, A; Bendinelli, P; Maroni, P; Cavagnini, F

    1995-05-01

    Galanin is believed to play a role in the control of eating behavior. No information is available on its concentrations in the biological fluids in human obesity, and this study aimed to clarify this. We measured plasma galanin and serum insulin levels in 30 obese, 35 normal weight and 11 anorectic women. Mean galanin values were quite similar in obese and control subjects (76.8 +/- 3.20 vs 76.1 +/- 2.33 pg/ml) and only slightly reduced in anorectic patients (67.9 +/- 2.30 pg/ml). Insulin levels were significantly increased and decreased in obese and anorectic patients, respectively, compared to controls. Insulin correlated positively with BMI in the whole group of subjects studied (r = 0.72, P < 0.0001) and in the obese subgroup (r = 0.56, P < 0.02). No correlations could be detected between WH ratio, insulin and galanin concentrations and between galanin and BMI. In conclusion, plasma galanin concentrations appear to be comparable in obese, normal weight and anorectic subjects. This does not exclude a role of galanin in the regulation of eating behavior since variations of the peptide in discrete brain areas may not be detectable in general circulation and peripheral sources of the peptide may contribute to its plasma levels. Also, our data suggest that galanin does not play a major role in the regulation of insulin secretion in humans.

  9. Suboptimal correction of low anorectal anomalies: a possible cause ...

    African Journals Online (AJOL)

    The study included pediatric patients presenting with constipation following the repair of low anorectal anomalies (rectoperineal and rectovestibular fistulae). All patients complained of failure to pass stools sponta- neously with varying degrees of severity (Table 1). Most parents gave a history for their children suffering from.

  10. Cerebral malformations without antenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Girard, Nadine J. [Diagnostic Neuroradiology, Hopital Timone, Marseille (France)

    2010-06-15

    Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms), or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital hemiparesis, epilepsy and mental or psychomotor retardation. MRI is the imaging method of choice to assess cerebral malformations. (orig.)

  11. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  12. Genetics Home Reference: Dandy-Walker malformation

    Science.gov (United States)

    ... Twitter Home Health Conditions Dandy-Walker malformation Dandy-Walker malformation Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Dandy-Walker malformation affects brain development, primarily development of the ...

  13. Intermediate treatments

    Science.gov (United States)

    John R. Jones; Wayne D. Shepperd

    1985-01-01

    Intermediate treatments are those applied after a new stand is successfully established and before the final harvest. These include not only intermediate cuttings - primarily thinning - but also fertilization, irrigation, and protection of the stand from damaging agents.

  14. Gastrointestinal system malformations in children are associated with congenital heart defects.

    Science.gov (United States)

    Orün, Utku Arman; Bilici, Meki; Demirçeken, Fulya G; Tosun, Mahya; Ocal, Burhan; Cavuşoğlu, Yusuf Hakan; Erdoğan, Derya; Senocak, Filiz; Karademir, Selmin

    2011-03-01

    To determine the frequency of congenital heart defects (CHD) in children with gastrointestinal malformations (GISM) and mortality rates in patients with GISM. Two hundred and forty two consecutive children patients with GISM followed up in Pediatric Surgery Clinics of our hospital were examined for cardiovascular anomaly by the Department of Pediatric Cardiology, and the CHD incidence was investigated by examining the records of the patients retrospectively. Chi-square test was used for the statistical analysis of data. Two hundred and forty two patients with gastrointestinal system malformations were included in the study. Of 242 patients, 135 (55.8%) were male and 107 (44.2%) were female, and their age range was 0-15 years. The most frequent GISM were anorectal malformations (43.2%), atresia involving stomach, ileum or colon (21%) and esophageal atresia/tracheoesophageal fistula (18.3%). Congenital heart defects were observed in 28.5% of the participants. The most frequent defects were as follows; atrial septal defect (31 patients, 44.9%) a, ventricular septal defect (17 patients, 24.6%) and patent ductus arteriosus (5 patients, 7.2%). There was no significant difference (p>0.05) in mortality rate in patients with CHD (16.7%) and without CHD (13.3%) undergoing operations for GISM. We would like to emphasize the importance of the earliest possible cardiological evaluation of all patients with gastrointestinal system malformations.

  15. Genetics Home Reference: cerebral cavernous malformation

    Science.gov (United States)

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke Educational Resources (7 links) Boston Children's Hospital: Cavernous Malformations Disease InfoSearch: Cerebral Cavernous Malformation ...

  16. Congenital malformations of pediatric surgical interest: prevalence, risk factors, and prenatal diagnosis between 2005 and 2012 in the capital city of a developing country. Bogotá, Colombia.

    Science.gov (United States)

    Correa, Catalina; Mallarino, Christina; Peña, Rafael; Rincón, Luis Carlos; Gracia, Gloria; Zarante, Ignacio

    2014-07-01

    Congenital anomalies (CAs) cause nearly one third of infant deaths worldwide. Various surveillance systems have been established, such as the Bogota Congenital Malformations Surveillance Program (BCMSP). Some CAs are of special interest to pediatric surgeons: omphalocele, gastroschisis, intestinal and esophageal atresia, anorectal malformations, vascular anomalies, diaphragmatic hernias, hypospadias and cryptorchidism. The aim of this study is to determine the prevalence of such CAs, and identify possible risk factors. Data from the BCMSP were collected between January 2005 and April 2012. CAs were classified in accordance with the ICD-10 and grouped for analysis purposes. Data on CA frequencies were obtained from the BCMSP. Association analyses were performed using the case-control methodology. 282,523 births were registered. 4682 (1.66%) had one or more CAs at birth. The prevalence of CAs requiring pediatric surgery was 1 in 1000. The most frequent CAs were vascular anomalies, hypospadias, and anorectal malformations. Exposure to external factors was significantly associated with selected CAs. 51% of selected birth defects were not diagnosed in prenatal ultrasound. This study highlights the importance of evaluating the local prevalence of congenital malformations. We propose the creation of specialized centers in Bogota to manage patients with CAs. Copyright © 2014 Elsevier Inc. All rights reserved.

  17. Extrasinusal dural arteriovenous malformations

    International Nuclear Information System (INIS)

    Piske, R.L.; Lasjaunias, P.

    1988-01-01

    Of 60 cases of dural arteriovenous malformations (DAVM) explored and treated in the Vascular Neuroradiology Unit of the Hospital of Bicetre between 1980 and 1986, 3 presented in an extrasinusal location: intraorbital, middle cerebral fossa and the region of the superior orbital fissure. We have not found any prior description of DAVMs in these regions in the literature. The classic concept that DAVMs rise in direct relationship with the dural sinuses is limited. We believe that these lesions may also developed in relationship with the venous drainage system of the sinuses and the venous drainage of the peripheral nervous system. We note that the superior ophthalmic vein which drains DAVMs of the orbit and the olfactory vein which drains DAVMs of the anterior cranial fossa and other veins that accompany the cranial nerves through the skull base have the characteristics of emissary veins. It may be that DAVMs can develop wherever veins follow a transosseous trajectory. (orig.)

  18. Altered erythrocyte Na-K pump in anorectic patients

    International Nuclear Information System (INIS)

    Pasquali, R.; Strocchi, E.; Malini, P.; Casimirri, F.; Ambrosioni, E.; Melchionda, N.; Labo, G.

    1985-01-01

    The status of the erythrocyte sodium pump was evaluated in a group of patients suffering from anorexia nervosa and a group of healthy female control subjects. Anorectic patients showed significantly higher mean values of digoxin-binding sites/cell (ie, the number of Na-K-ATPase units) with respect to control subjects while no differences were found in the specific 86 Rb uptake (which reflects the Na-K-ATPase activity) between the two groups. A significant correlation was found between relative weight and the number of Na-K-ATPase pump units (r = -0.66; P less than 0.0001). Anorectic patients showed lower serum T3 concentrations (71.3 +/- 53 ng/dL) with respect to control subjects (100.8 +/- 4.7 ng/dL; P less than 0.0005) and a significant negative correlation between T3 levels and the number of pump units (r = -0.52; P less than 0.003) was found. This study therefore shows that the erythrocyte Na-K pump may be altered in several anorectic patients. The authors suggest that this feature could be interrelated with the degree of underweight and/or malnutrition

  19. Anorectal dysfunction in constipated women with anorexia nervosa.

    Science.gov (United States)

    Chiarioni, G; Bassotti, G; Monsignori, A; Menegotti, M; Salandini, L; Di Matteo, G; Vantini, I; Whitehead, W E

    2000-10-01

    To evaluate anorectal and colonic function in a group of patients with anorexia nervosa complaining of chronic constipation. Twelve women (age range, 19-29 years) meeting the criteria for anorexia nervosa and complaining of chronic constipation were recruited for the study. A group of 12 healthy women served as controls. Colonic transit time was measured by a radiopaque marker technique. Anorectal manometry and a test of rectal sensation were carried out with use of standard techniques to measure pelvic floor dysfunction. A subgroup of 8 patients was retested after an adequate refeeding program was completed. Eight (66.7%) of 12 patients with anorexia nervosa had slow colonic transit times, while 5 (41.7%) had pelvic floor dysfunction. Colonic transit time normalized in the 8 patients who completed the 4-week refeeding program. However, pelvic floor dysfunction did not normalize in these patients. Patients with anorexia nervosa who complain of constipation have anorectal motor abnormalities. Delayed colonic transit time is probably due to abnormal eating behavior.

  20. Altered erythrocyte Na-K pump in anorectic patients

    Energy Technology Data Exchange (ETDEWEB)

    Pasquali, R.; Strocchi, E.; Malini, P.; Casimirri, F.; Ambrosioni, E.; Melchionda, N.; Labo, G.

    1985-07-01

    The status of the erythrocyte sodium pump was evaluated in a group of patients suffering from anorexia nervosa and a group of healthy female control subjects. Anorectic patients showed significantly higher mean values of digoxin-binding sites/cell (ie, the number of Na-K-ATPase units) with respect to control subjects while no differences were found in the specific /sup 86/Rb uptake (which reflects the Na-K-ATPase activity) between the two groups. A significant correlation was found between relative weight and the number of Na-K-ATPase pump units (r = -0.66; P less than 0.0001). Anorectic patients showed lower serum T3 concentrations (71.3 +/- 53 ng/dL) with respect to control subjects (100.8 +/- 4.7 ng/dL; P less than 0.0005) and a significant negative correlation between T3 levels and the number of pump units (r = -0.52; P less than 0.003) was found. This study therefore shows that the erythrocyte Na-K pump may be altered in several anorectic patients. The authors suggest that this feature could be interrelated with the degree of underweight and/or malnutrition.

  1. Utility of magnetic resonance imaging in anorectal disease

    Institute of Scientific and Technical Information of China (English)

    Loren Berman; Gary M Israel; Shirley M McCarthy; Jeffrey C Weinreb; Walter E Longo

    2007-01-01

    Imaging of both benign and malignant anorectal diseases has traditionally posed a challenge to clinicians, and as a result history and physical exam have been relied on heavily. CT scanning and endorectal ultrasound have become popular in assessment of anatomy and staging of tumors, but have limitations. Magnetic resonance imaging(MRI) has the capability to fill in the gaps left open by more conventional imaging modalities and continues to be promising as the definitive imaging technique in the pelvis, especially with advancement of emerging technologies in this field. A comprehensive review of this topic has been undertaken. Anorectal disease is divided into three broad categories: cancer, fistula/abscess,and pelvic floor disorders. A review of the literature is performed to evaluate the use of MRI and other imaging modalities in these three areas. Preoperative imaging is useful in the evaluation of all three areas of anorectal disease. MRI is an effective tool in delineating anatomy and, when correlating with the specific clinical scenario,is an effective adjunct in clinical decision-making in order to optimize outcome. MRI continues to be a promising and novel approach to imaging various afflictions of the anorectum and the pelvic floor. Its role is more wellestablished in some areas than in others, and there are still significant limitations. As technology advances, MRI will shed more light on a complex anatomical area.

  2. Surgical management of venous malformations.

    Science.gov (United States)

    Loose, D A

    2007-01-01

    Among vascular malformations, the predominantly venous malformations represent the majority of cases. They form a clinical entity and therefore need clear concepts concerning diagnosis and treatment. This paper presents an overview of contemporary classification as well as tactics and techniques of treatment. According to the Hamburg Classification, predominantly venous malformations are categorized into truncular and extratruncular forms, with truncular forms distinguished as obstructions and dilations, and extratruncular forms as limited or infiltrating. The tactics of treatment represent surgical and non-surgical methods or combined techniques. Surgical approaches utilize different tactics and techniques that are adopted based on the pathologic form and type of the malformation: (I) operation to reduce the haemodynamic activity of the malformation; (II) operation to eliminate the malformation; and (III) reconstructive operation. As for (I), a type of a tactic is the operation to derive the venous flow. In (II), the total or partial removal of the venous malformation is demonstrated subdivided into three different techniques. In this way, the infiltrating as well as the limited forms can be treated. An additional technique is dedicated to the treatment of a marginal vein. Approach (III) involves the treatment of venous aneurysms, where a variety of techniques have been successful. Long-term follow-up demonstrates positive results in 91% of the cases. Congenital predominantly venous malformations should be treated according to the principles developed during the past decades in vascular surgery, interventional treatment and multidisciplinary treatment. The days of predominantly conservative treatment should be relegated to the past. Special skills and experiences are necessary to carry out appropriate surgical strategy, and the required operative techniques should be dictated by the location and type of malformation and associated findings.

  3. Differences in Radiation Dosimetry and Anorectal Function Testing Imply That Anorectal Symptoms May Arise From Different Anatomic Substrates

    International Nuclear Information System (INIS)

    Smeenk, Robert Jan; Hopman, Wim P.M.; Hoffmann, Aswin L.; Lin, Emile N.J.Th. van; Kaanders, Johannes H.A.M.

    2012-01-01

    Purpose: To explore the influence of functional changes and dosimetric parameters on specific incontinence-related anorectal complaints after prostate external beam radiotherapy and to estimate dose–effect relations for the anal wall and rectal wall. Methods and Materials: Sixty patients, irradiated for localized prostate cancer, underwent anorectal manometry and barostat measurements to evaluate anal pressures, rectal capacity, and rectal sensory functions. In addition, 30 untreated men were analyzed as a control group. In 36 irradiated patients, the anal wall and rectal wall were retrospectively delineated on planning computed tomography scans, and dosimetric parameters were retrieved from the treatment plans. Functional and dosimetric parameters were compared between patients with and without complaints, focusing on urgency, incontinence, and frequency. Results: After external beam radiotherapy, reduced anal pressures and tolerated rectal volumes were observed, irrespective of complaints. Patients with urgency and/or incontinence showed significantly lower anal resting pressures (mean 38 and 39 vs. 49 and 50 mm Hg) and lower tolerated rectal pressures (mean 28 and 28 vs. 33 and 34 mm Hg), compared to patients without these complaints. In patients with frequency, almost all rectal parameters were reduced. Several dosimetric parameters to the anal wall and rectal wall were predictive for urgency (e.g., anal D mean >38Gy), whereas some anal wall parameters correlated to incontinence and no dose–effect relation for frequency was found. Conclusions: Anorectal function deteriorates after external beam radiotherapy. Different incontinence-related complaints show specific anorectal dysfunctions, suggesting different anatomic and pathophysiologic substrates: urgency and incontinence seem to originate from both anal wall and rectal wall, whereas frequency seems associated with rectal wall dysfunction. Also, dose–effect relations differed between these complaints

  4. Imaging of the cloacal malformation

    International Nuclear Information System (INIS)

    Jaramillo, D.; Lebowitz, R.L.; Hendren, W.H.

    1989-01-01

    Sixty-two newborns with the cloacal malformation were evaluated to define variation in cloacal configuration, associated anomalies, and optimal approach to imaging. Cloacal malformations were classified according to level of urethrovaginal confluence (47 low, 15 high); level of rectal communication (47 vaginal, seven cloacal, eight other); and cloacal appearance (34 urethral, 28 vaginal, 10 transistional). Lower urinary abnormalities included reflux, ureteral ectopia, bladder diverticula, bladder duplication (five), and urachal remnants (five). Uterovaginal abnormalities included duplication and partial agenesis. Anomalies were common in the upper urinary tract, spine (sacral agenesis, 20), and bony pelvis (pubic diastasis, 10). Gastrointestinal, cardiovascular, neurologic, and limb (seven) malformations were seen. Fluoroscopically monitored opacification of the cloacal components and voiding cystourethrogram were essential. Although sonography of the malformation was of limited usefulness, MR imaging seemed to be useful for evaluation of the spinal cord and pelvic musculature

  5. Classification of Cortical Brain Malformations

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-03-01

    Full Text Available Clinical, radiological, and genetic classifications of 113 cases of malformations of cortical development (MCD were evaluated at the Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.

  6. Facial vascular malformations in children

    International Nuclear Information System (INIS)

    Brunelle, F.O.; Lallemand, D.; Chaumont, P.; Teillac, D.; Manach, Y.

    1988-01-01

    The authors present their experience with conventional and digital angiography of vascular malformations of the head and neck in children. 22 hemangioendotheliomas, 8 venous angiomas, and 3 arteriovenous fistula were studied. 22 patients were embolised. DSA offers many advantages during the diagnostic as well as during the therapeutic phase of angiography. Embolization appears to have a major role in treatment of such vascular malformations. (orig.)

  7. Radiosurgery of arteriovenous malformations

    International Nuclear Information System (INIS)

    Kawamoto, Shunsuke

    1994-01-01

    Steiner has first published a report of a case of cerebral arteriovenous malformation (AVM) treated with gamma knife radiosurgery in 1972. Since the mid-1980s, radiosurgery has increasingly received much attention. There have already been more than 6,000 radiosurgically treated AVM cases. This article reviews radiosurgery in the context of the following: (1) radiosurgery according to gamma knife, linear accelerator, heavy-charged particle Bragg-peak radiation and neutron; (2) therapeutic outcome in view of angiographically proven complete obliteration (CO) of AVM, including the time required for CO and factors regulating CO (such as the volume of AVM, radiation doses, correlation between the volume of AVM and radiation doses, age, and site of AVM), histopathological findings, and clinical complaints (such as headache and epilepsy) after radiosurgery; (3) bleeding after radiosurgery; (4) complications (including angiography-related complications, those immediately after radiosurgery, delayed complications, factors influencing delayed complications, and endocrine or growth retardation); (5) other problems (such as radiation doses, follow-up strategy, approaches to giant AVMs, and repeat irradiation); (6) indication of radiosurgery for lesions other than brain stem, and lesions of the mid-brain, pons and bulb. (N.K.) 134 refs

  8. Videodefaecography combined with measurement of the anorectal angle and of perineal descent

    International Nuclear Information System (INIS)

    Skomorowska, E.; Henrichsen, S.; Christiansen, J.; Hegedues, V.; Glostrup Sygehus, Copenhagen

    1987-01-01

    Cineradiographic defaecography combined with measurement of the anorectal angle and descent of the pelvic floor is proposed. The method used in 73 women gave valuable information in 48 patients who complained of anal incompetence, rectal tenesmus, and chronic constipation. In these patients, high and low rectal intussusception, rectocele, and pathologic movement of the pelvic floor were detected. Some of these phenomena could only be diagnosed by the radiologic method here described. Quantitations of the anorectal angle and descent of the pelvic floor placed the group with constipation halfway between normal individuals and those with anal incompetence. The value of this finding is discussed. Recent improvements in anorectal surgery often make videodefaecography decisive for the choice of the optimal operative method. Therefore, videodefaecography together with measurement of the anorectal angle and pelvic floor descent is recommended whenever anorectal surgery for correction of functional disturbances is contemplated. (orig.)

  9. The music therapy of an anorectic mentally handicapped adult.

    Science.gov (United States)

    Heal, M; O'Hara, J

    1993-03-01

    Where words fail, music may be a medium through which to explore one's inner world and experiences. Psychodynamic approaches have helped us to understand what it means to be handicapped (e.g. Sinason, 1992). The subtleties of diagnosing anorexia nervosa have recently been recognized in this group (e.g. Cottrell & Crisp, 1984). Music therapy has been used with clients of normal intelligence who have eating disorders (Nolan, 1989; Sloboda, 1993; Smeijsters & van den Hurk 1993). This article illustrates the music therapy of a woman with Down's syndrome (IQ = 50) and anorexia nervosa. It describes her management and progress in music therapy in relation to her external world and anorectic behaviours.

  10. [Anorectal manifestations of sexually transmissible diseases. Kaposi's sarcoma].

    Science.gov (United States)

    Libeskind, M; Malbran, J; Agard, D; Pannetier, C; Lecouillard, C; Ivanovic, A

    1984-01-01

    The proctologist is above all concerned with the known recrudescence of venereal diseases. Examples reviewed are diseases of bacterial origin (syphilis, gonorrhea, soft chancre, donovanosis and chlamydiosis), appropriate antibiotic therapy and diseases of viral origin (herpes, condyloma acuminatum). Also noted are other bacterial, viral and parasitic diseases and, indeed, cancers of which Kaposi's sarcoma is the example, even though these are not manifested anorectally. New data on Kaposi's sarcoma, its' relationships with venereal disease and AIDS are presented. With these complex problems, the central role of male homosexuality and lowered cellular immunity widens considerably the professional scope of the proctologist.

  11. Activity patterns in malformed fetuses.

    Science.gov (United States)

    Rayburn, W F; Barr, M

    1982-04-15

    Knowledge of a malformed fetus before the onset of labor would assist the physician in preparing the expectant parents, managing the timing and method of delivery, and preparing for the immediate care of a salvageable infant. This 3-year prospective investigation compared the activity patterns of fetuses who were later found to have major malformation with those of fetuses who had no apparent defects. Fetal motion over prolonged periods was determined by daily charting of fetal movement by the mother. Although not a reliable predictor for all malformations, evidence of fetal inactivity was found to be more common (p less than 0.0001) among fetuses with anomalies (16 of 58 cases, 28%) than among those with no defects (39 of 1,098 cases, 4%). All malformations associated with fetal inactivity were strongly suspected ultrasonographically and included hydrocephalus, gastroschisis, nonimmune hydrops, bilateral renal agenesis, and bilateral dislocation of the hips. Documentation of fetal inactivity is helpful in recognizing certain major malformations and constitutes grounds for more detailed study by ultrasonography.

  12. Arteriovenous malformation of the mandible

    International Nuclear Information System (INIS)

    Kim, Dong Youn; Lee, Kang Sook; Choi, Karp Shik

    1995-01-01

    The arteriovenous malformation, an uncommon lesion, is a direct communication between an artery and a vein that bypasses the intervening capillary bed. The authors experienced two cases of arteriovenous malformation in 17-year-old and 18-year-old female patients who had suffered from mandibular pain and gingival bleeding. As a result of careful analysis of clinical and angiographic radiological examinations, we diagnosed them as arteriovenous malformations. The following result were obtained; 1. Main clinical symptoms were dull pain and gingival bleeding on the mandibular body area and redness, pain on palpitation in the lesional sites were also observed. 2. Radiographically, well-defined radiolucent lesions with multiple osteolytic defects were observed. In radionuclide scan, increased uptakes of radioisotope were observed in the lesional sites. 3. Increased venous shunt supplied by the facial, lingual and inferior alveolar arteries was observed in angiography. After embolotherapy was performed, no recurrence was reported during 3 to 6 months follow up.

  13. Murine Anorectic Response to Deoxynivalenol (Vomitoxin Is Sex-Dependent

    Directory of Open Access Journals (Sweden)

    Erica S. Clark

    2015-07-01

    Full Text Available Deoxynivalenol (DON, vomitoxin, a common trichothecene mycotoxin found in cereal foods, dysregulates immune function and maintenance of energy balance. The purpose of this study was to determine if sex differences are similarly evident in DON’s anorectic responses in mice. A bioassay for feed refusal, previously developed by our lab, was used to compare acute i.p. exposures of 1 and 5 mg/kg bw DON in C57BL6 mice. Greater anorectic responses were seen in male than female mice. Male mice had higher organ and plasma concentrations of DON upon acute exposure than their female counterparts. A significant increase in IL-6 plasma levels was also observed in males while cholecystokinin response was higher in females. When effects of sex on food intake and body weight changes were compared after subchronic dietary exposure to 1, 2.5, and 10 ppm DON, males were found again to be more sensitive. Demonstration of male predilection to DON-induced changes in food intake and weight gain might an important consideration in future risk assessment of DON and other trichothecenes.

  14. Anorectal motility abnormalities in children with encopresis and chronic constipation.

    Science.gov (United States)

    Raghunath, Neeraj; Glassman, Mark S; Halata, Michael S; Berezin, Stuart H; Stewart, Julian M; Medow, Marvin S

    2011-02-01

    To evaluate the response to rectal distension in children with chronic constipation and children with chronic constipation and encopresis. We studied 27 children, aged 3 to 16 years, with chronic constipation; 12 had encopresis. Anorectal motility was measured with a solid state catheter. When the catheter was located in the internal sphincter, the balloon was inflated to 60 mL with air. There were no differences in age, sex distribution, and duration of constipation in the two groups. Comparing groups, anorectal manometry showed no differences in the resting sphincter pressure, recovery pressure, the lowest relaxation pressure, and percent relaxation. However, time to maximum relaxation, time to recovery to baseline pressure, and duration of relaxation were significantly higher in patients with constipation and encopresis, compared with patients who had constipation alone. There may be an imbalance in neuromuscular control of defecation in constipated patients with encopresis that results in incontinence as a consequence of the increased time to recovery and duration of relaxation of the internal anal sphincter. Copyright © 2011 Mosby, Inc. All rights reserved.

  15. Radioactive needle implants in the treatment of anorectal cancer

    International Nuclear Information System (INIS)

    Price, A.; Kerr, G.R.; Arnott, S.J.

    1988-01-01

    Radioactive needle implants (Ra 226 , Cs 137 ) were used to treat 44 patients with inoperable anorectal cancer. An implant dose of 60 Gy or higher was administered to 27 patients at a mean dose rate of 0.493 Gy/h (SE ± 0.167 Gy/h). In five patients this was preceded by external beam irradiation. A further 17 patients received an implant dose of less than 60 Gy; this followed external irradiation in 10 patients. A complete response was achieved in 52% (16 out of 31) of patients assessed. Three of these patients later relapsed locally. The median duration of response was 23 months. A partial response of median duration 3 months was achieved by a further 13 patients. Five year actuarial survival was 23.9%. Serious morbidity occurred in six patients; three developed strictures and three necrosis. Features of the tumour and the treatment technique contributing to successful management are discussed. It is suggested that radioactive needle implants have an important part to play in the management of low-lying inoperable anorectal cancers. (author)

  16. Pediatric central nervous system vascular malformations

    International Nuclear Information System (INIS)

    Burch, Ezra A.; Orbach, Darren B.

    2015-01-01

    Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

  17. Pediatric central nervous system vascular malformations

    Energy Technology Data Exchange (ETDEWEB)

    Burch, Ezra A. [Brigham and Women' s Hospital, Department of Radiology, Boston, MA (United States); Orbach, Darren B. [Boston Children' s Hospital, Neurointerventional Radiology, Boston, MA (United States)

    2015-09-15

    Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

  18. Arteriovenous Malformation of the Pancreas

    Directory of Open Access Journals (Sweden)

    Alexandros Charalabopoulos

    2011-01-01

    Full Text Available Pancreatic arteriovenous malformation (PAVM is a very rare and mostly congenital lesion, with less than 80 cases described in the English-published literature. It is defined as a tumorous vascular abnormality that is constructed between an anomalous bypass anastomosis of the arterial and venous networks within the pancreas. It represents about 5% of all arteriovenous malformations found in the gastrointestinal tract. Herein, we present a 64-year-old patient with symptomatic PAVM involving the body and tail of the organ, which was successfully treated by transcatheter arterial embolization. The disease spectrum and review of the literature are also presented.

  19. Intermediate Fragment

    DEFF Research Database (Denmark)

    Kruse Aagaard, Anders

    2015-01-01

    This text and its connected exhibition are aiming to reflect both on the thoughts, the processes and the outcome of the design and production of the artefact ‘Intermediate Fragment’ and making as a contemporary architectural tool in general. Intermediate Fragment was made for the exhibition ‘Enga...... of realising an exhibition object was conceived, but expanded, refined and concretised through this process. The context of the work shown here is an interest in a tighter, deeper connection between experimentally obtained material knowledge and architectural design....

  20. The Development of a Canine Anorectal Autotransplantation Model Based on Blood Supply: A Preliminary Case Report

    Science.gov (United States)

    Nakamura, Tatsuo; Sato, Tomoyuki; Naito, Munekazu; Fujii, Satoshi; Mihara, Makoto; Koshima, Isao

    2012-01-01

    Colostomy is conventionally the only treatment for anal dysfunction. Recently, a few trials of anorectal transplantation in animals have been published; however, further development of this technique is required. Moreover, it is crucial to perform this research in dogs, which resemble humans in anorectal anatomy and biology. We designed a canine anorectal transplantation model, wherein anorectal autotransplantation was performed by anastomoses of the rectum, inferior mesenteric artery (IMA) and vein, and pudendal nerves. Resting pressure in the anal canal and anal canal pressure fluctuation were measured before and after surgery. Graft pathology was examined three days after surgery. The anal blood supply was compared with that in three beagles using indocyanine green (ICG) fluorescence angiography. The anorectal graft had sufficient arterial blood supply from the IMA; however, the graft’s distal end was congested and necrotized. Functional examination demonstrated reduced resting pressure and the appearance of an irregular anal canal pressure wave after surgery. ICG angiography showed that the pudendal arteries provided more blood flow than the IMA to the anal segment. This is the first canine model of preliminary anorectal autotransplantation, and it demonstrates the possibility of establishing a transplantation model in dogs using appropriate vascular anastomoses, thus contributing to the progress of anorectal transplantation. PMID:22970198

  1. RISK FACTORS IN CHILD CONGENITAL MALFORMATIONS

    OpenAIRE

    Alina-Costina LUCA; Mirabela SUBOTNICU

    2015-01-01

    Congenital heart malformations are among the most common congenital malformations. Congenital heart malformations occur due to genetic and environmental factors during embryonic morphogenesis period of the heart. About 25% of these malformations are severe, requiring intervention immediately after birth or in infancy. Abnormalities of structure and function of the heart and great vessels are the consequence of teratogenic factors occurring between day 19 and 45 of gestation. (Yagel et al...

  2. Abernethy malformation: a case report

    Directory of Open Access Journals (Sweden)

    Pathak Ashish

    2012-05-01

    Full Text Available Abstract Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4 weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients.

  3. Congenital Pulmonary Malformation in Children

    Directory of Open Access Journals (Sweden)

    Montasser Nadeem

    2012-01-01

    Full Text Available Congenital Pulmonary Malformations (CPMs are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  4. Congenital Pulmonary Malformation in Children

    OpenAIRE

    Nadeem, Montasser; Elnazir, Basil; Greally, Peter

    2012-01-01

    Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  5. Transrectal ultrasonography of anorectal disease: advantages and disadvantages

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Min Ju [Dept. of Radiology, Korea University Anam Hospital, Korea University College of Medicine, Seoul (Korea, Republic of)

    2015-01-15

    Transrectal ultrasonography (TRUS) has been widely accepted as a popular imaging modality for Epub ahead of print evaluating the lower rectum, anal sphincters, and pelvic floor in patients with various anorectal diseases. It provides excellent visualization of the layers of the rectal wall and of the anatomy of the anal canal. TRUS is an accurate tool for the staging of primary rectal cancer, especially for early stages. Although magnetic resonance imaging is a modality complementary to TRUS with advantages for evaluating the mesorectum, external sphincter, and deep pelvic inflammation, three-dimensional ultrasonography improves the detection and characterization of perianal fistulas and therefore plays a crucial role in optimal treatment planning. The operator should be familiar with the anatomy of the rectum and pelvic structures relevant to the preoperative evaluation of rectal cancer and other anal canal diseases, and should have technical proficiency in the use of TRUS combined with an awareness of its limitations compared to magnetic resonance imaging.

  6. The effect of hysterectomy on ano-rectal physiology.

    LENUS (Irish Health Repository)

    Kelly, J L

    2012-02-03

    Hysterectomy is associated with severe constipation in a subgroup of patients, and an adverse effect on colonic motility has been described in the literature. The onset of irritable bowel syndrome and urinary bladder dysfunction has also been reported after hysterectomy. In this prospective study, we investigated the effect of simple hysterectomy on ano-rectal physiology and bowel function. Thirty consecutive patients were assessed before and 16 weeks after operation. An abdominal hysterectomy was performed in 16 patients, and a vaginal procedure was performed in 14. The parameters measured included the mean resting, and maximal forced voluntary contraction anal pressures, the recto-anal inhibitory reflex, and rectal sensation to distension. In 8 patients, the terminal motor latency of the pudendal nerve was assessed bilaterally. Pre-operatively, 8 patients were constipated. This improved following hysterectomy in 4, worsened in 2, and was unchanged in 2. Symptomatology did not correlate with changes in manometry. Although, the mean resting pressure was reduced after hysterectomy (57 mmHg-53 mmHg, P = 0.0541), the maximal forced voluntary contraction pressure was significantly decreased (115 mmHg-105 mmHg, P = 0.029). This effect was more pronounced in those with five or more previous vaginal deliveries (P = 0.0244, n = 9). There was no significant change in the number of patients with an intact ano-rectal inhibitory reflex after hysterectomy. There was no change in rectal sensation to distension, and the right and left pudendal nerve terminal motor latencies were unaltered at follow-up. Our results demonstrate that hysterectomy causes a decrease in the maximal forced voluntary contraction and pressure, and this appears to be due to a large decrease in a small group of patients with previous multiple vaginal deliveries.

  7. Short-term outcome of posterior anorectal myectomy for treatment of ...

    African Journals Online (AJOL)

    intractable IC were included in this study after failure of bowel management .... studies, who showed improvement in bowel habit in 85.7% of 61 children ... evaluation of modified lateral anorectal myomectomy for low-segment. Hirschsprung's ...

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

    NARCIS (Netherlands)

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

    2015-01-01

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

  9. Diagnosis and Management of Anorectal Disorders in the Primary Care Setting.

    Science.gov (United States)

    Davies, Danielle; Bailey, Justin

    2017-12-01

    Anorectal disorders are very common among a wide population of patients. Because patients may be embarrassed about the anatomic location of their symptoms, they may present to care late in the course of their illness. Care should be taken to validate patient concerns and normalize fears. This article discusses the diagnoses and management of common anorectal disorders among patients presenting to a primary care physician. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. Esophageal and anorectal involvement in systemic sclerosis: a systematic assessment with high resolution manometry.

    Science.gov (United States)

    Luciano, Laure; Granel, Brigitte; Bernit, Emmanuelle; Harle, Jean-Robert; Baumstarck, Karine; Grimaud, Jean-Charles; Bouvier, Michel; Vitton, Véronique

    2016-01-01

    In systemic sclerosis (SSc), esophageal and anorectal involvements are frequent and often associated with each other. In clinical practice, esophageal explorations are often prescribed, while anorectal explorations are rarely proposed and therefore, under-recognised. However, it is well documented in the literature that early detection of anorectal dysfunction could delay and/or prevent the onset of symptoms such as fecal incontinence (FI). The main objective was the systematic evaluation and detection of esophageal and anorectal involvements in SSc patients. In this monocentric retrospective study, all patients with SSc addressed in the Department of Functional Digestive Explorations, North Hospital, Marseille for esophageal and anorectal explorations were included. Self-Questionnaires, evaluating the symptoms and quality of life, were filled by patients during their visit. Explorations were performed on the same day: high resolution esophageal manometry (EHRM), 3 Dimensional high resolution anorectal manometry (3DHRARM) and endo anal sonography (EUS). 44 patients (41 women), mean age 59.8±12 years, were included. With regard to the symptoms, 45.5% of patients had gastro-esophageal reflux disease (GERD), 66.9% dysphagia, 65.9% constipation and 77.3% FI. The incidence of esophageal dismotility was 65.9%, anorectal and both upper and lower dysfunction were 43.2%. More than 89% patients with abnormal explorations (EHRM, 3DHRARM or both) were symptomatic. Duration of SSc and altered quality of life was correlated with the severity of digestive involvement. Anorectal dysfunction appears to be closely linked to esophageal involvement in SSc. Their routine screening is undoubtedly essential to limit the occurrence of severe symptoms such as FI.

  11. Anorectal pathology amongst HIV infected patients attending the Douala General Hospital: a cross-sectional study.

    Science.gov (United States)

    Luma, Henry Namme; Eloumou, Servais Albert Fiacre Bagnaka; Fualefeh-Morfaw, Ellis Atemlefeh; Malongue, Agnes; Temfack, Elvis; Lekpa, Fernando Kemta; Donfack-Sontsa, Olivier; Ndip, Lucy; Ditah, Ivo Che

    2017-03-01

    While gastrointestinal disease is common among HIV infected individuals, the prevalence and distribution of ano-rectal pathology has not been well studied in our setting. The objective of this study therefore was to determine the prevalence and determinants of ano-rectal pathology in HIV infected patients attending the Douala General Hospital HIV treatment centre. A hospital-based cross-sectional study was undertaken. We collected socio-demographic, clinical and laboratory data using a structured questionnaire and patients' files. Each study participant had a full physical and ano-rectal examination. We further studied factors associated with having at least one ano-rectal lesion by logistic regression reporting odds ratios (ORs) and their 95% confidence intervals (CI). We included 390 HIV infected patients. The mean age was 41 (SD: 8) years and 48% were men. Median duration since HIV diagnosis was 3 (interquartile range: 2-5) years and median CD4 cell count was 411 (interquartile range: 234-601) cells/mm 3 . Prevalence of ano-rectal pathology was 22.8% (95% CI: 18.7-27.3). Hemorrhoids and proctitis were most common lesions found; each in 10% of patients. From multivariate logistic regression, factors associated with ano-rectal pathology were CD4 HIV infected patients. Care givers should actively investigate and treat them as this will improve the quality of life of people living with HIV/AIDS.

  12. Screening for pulmonary arteriovenous malformations

    DEFF Research Database (Denmark)

    Oxhøj, H; Kjeldsen, A D; Nielsen, G

    2000-01-01

    Pulmonary arteriovenous malformations (PAVM) cause right-to-left shunt and imply risk of paradoxical embolism and cerebral abscess. These complications can be prevented by appropriate treatment. Detection of PAVMs is therefore important, so simple and reliable screening methods are needed...... for this purpose. The aim of this investigation was to compare pulse oximetry and contrast echocardiography as screening tools for detection of pulmonary arteriovenous malformations. Eighty-five hereditary haemorrhagic telangiectasia (HHT) patients and first-degree relatives identified in a comprehensive study...... echocardiography with intravenous injection of echo contrast was performed in all subjects. Outcome measures were oxygen saturation change >2% units on changing body position and echo contrast observed in the left-sided heart chambers. Positive contrast echocardiography indicating the presence of PAVM was found...

  13. Perinatal risk factors including malformation

    International Nuclear Information System (INIS)

    Brachner, A.; Grosche, B.

    1991-10-01

    The study gives a survey of the factors most frequently mentioned in the literature as factors likely to adversely affect a pregnancy. One essential aspect is the discussion of those factors that can be counted among the causes of malformations, as among others, prenatal radiation exposure. The study prepared within the framework of the research project 'Radiobiological environmental monitoring in Bavaria' is intended to serve as a basis for a retrospective and prospective evaluation of infant mortality, perinatal conditions and occurrence of malformations in Bavaria, with the principal idea of drawing up an environment - related health survey. The study therefore, in addition to ionizing radiation also takes into account other detectable risks within the ecologic context, as e.g. industrial installations, refuse incineration plants or waste dumps, or urbanity. (orig./MG) [de

  14. [Identification of risk factors for congenital malformations].

    Science.gov (United States)

    Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio

    2014-11-01

    The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

  15. Headache in children with Chiari I malformation.

    Science.gov (United States)

    Toldo, Irene; Tangari, Marta; Mardari, Rodica; Perissinotto, Egle; Sartori, Stefano; Gatta, Michela; Calderone, Milena; Battistella, Pier Antonio

    2014-05-01

    Headache is the most common symptom of Chiari 1 malformation, a condition characterized by the herniation of cerebellar tonsils through the foramen magnum. However, the headache pattern of cases with Chiari 1 malformations is not well defined in the literature, especially in children. The aim of this retrospective chart review was to evaluate the frequency and the characteristics of headache in children with Chiari 1 malformation at initial evaluation and during follow up. Forty-five cases with tonsillar ectopia were selected among 9947 cases under 18 years of age who underwent neuroimaging between 2002 and 2010. A semistructured clinical interview (mean follow-up: 5.2 years) was conducted. Headache was classified according to the second edition of the International Classification of Headache Disorders. Possible associations between clinical picture, in particular headache pattern, but also other signs and symptoms attributable to Chiari 1 malformation, and the extent of tonsillar ectopia were found for 3 different groups: those with borderline (headache, and 9/33 (27%) of those patients (5 with mild and 4 with severe tonsillar ectopia) reported headache attributed to Chiari 1 malformation. In our studied pediatric population, the most common symptom for cases diagnosed with Chiari 1 malformation was headache, and headache attributed to Chiari 1 malformation was the most common headache pattern in patients with Chiari 1 malformation. The presence of headache attributed to Chiari 1 malformation along with 3 other signs or symptoms of Chiari 1 malformation were highly predictive of severe tonsillar ectopia. © 2014 American Headache Society.

  16. Intermediate uveitis

    Directory of Open Access Journals (Sweden)

    Babu B

    2010-01-01

    Full Text Available Intermediate uveitis (IU is described as inflammation in the anterior vitreous, ciliary body and the peripheral retina. In the Standardization of Uveitis Nomenclature (SUN working group′s international workshop for reporting clinical data the consensus reached was that the term IU should be used for that subset of uveitis where the vitreous is the major site of the inflammation and if there is an associated infection (for example, Lyme disease or systemic disease (for example, sarcoidosis. The diagnostic term pars planitis should be used only for that subset of IU where there is snow bank or snowball formation occurring in the absence of an associated infection or systemic disease (that is, "idiopathic". This article discusses the clinical features, etiology, pathogenesis, investigations and treatment of IU.

  17. A case report of aphallia with urorectal septum malformation sequence in a newborn: a very rarely seen condition

    Directory of Open Access Journals (Sweden)

    Sharma D

    2015-12-01

    Full Text Available Deepak Sharma,1 Ravinder Singh,2 Sweta Shastri3 1Department of Neonatology, Fernandez Hospital, Hyderabad, 2Department of Pediatrics, Civil Hospital, Hisar, Haryana, 3Department of Pathology, NKP Salve Medical College, Nagpur, Maharashtra, India Abstract: Aphallia (absence of penis is an extremely rare abnormality which has rarely been described in medical literature and can be part of the urorectal septum malformation sequence (URSMS. URSMS has hardly been reported in medical literature and includes the absence of perineal and anal openings in association with ambiguous genitalia and urogenital, colonic, and lumbosacral anomalies. This case report tells the importance of detailed examination of infants that are diagnosed with aphallia. We report a case of a newborn who was diagnosed as aphallia with the URSMS syndrome after birth. The neonate had an endocardial cushion defect (atrial septal defect and ventricular septal defect and bilateral agenesis of the kidney. The neonate succumbed to death secondary to hypoplastic lung leading to respiratory failure. Keywords: aphallia, urorectal septum malformation sequence, cloacal membrane, hindgut development, congenital aphallia, anorectal malformation

  18. Congenital malformations of the skull and meninges.

    Science.gov (United States)

    Kanev, Paul M

    2007-02-01

    The surgery and management of children who have congenital malformations of the skull and meninges require multidisciplinary care and long-term follow-up by multiple specialists in birth defects. The high definition of three-dimensional CT and MRI allows precise surgery planning of reconstruction and management of associated malformations. The reconstruction of meningoencephaloceles and craniosynostosis are challenging procedures that transform the child's appearance. The embryology, clinical presentation, and surgical management of these malformations are reviewed.

  19. Magnetic resonance imaging features of complex Chiari malformation variant of Chiari 1 malformation

    Energy Technology Data Exchange (ETDEWEB)

    Moore, Hannah E. [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States); Moore, Kevin R. [University of Utah School of Medicine, Department of Radiology, Salt Lake City, UT (United States); Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

    2014-11-15

    Complex Chiari malformation is a subgroup of Chiari 1 malformation with distinct imaging features. Children with complex Chiari malformation are reported to have a more severe clinical phenotype and sometimes require more extensive surgical treatment than those with uncomplicated Chiari 1 malformation. We describe reported MR imaging features of complex Chiari malformation and evaluate the utility of craniometric parameters and qualitative anatomical observations for distinguishing complex Chiari malformation from uncomplicated Chiari 1 malformation. We conducted a retrospective search of the institutional imaging database using the keywords ''Chiari'' and ''Chiari 1'' to identify children imaged during the 2006-2011 time period. Children with Chiari 2 malformation were excluded after imaging review. We used the first available diagnostic brain or cervical spine MR study for data measurement. Standard measurements and observations were made of obex level (mm), cerebellar tonsillar descent (mm), perpendicular distance to basion-C2 line (pB-C2, mm), craniocervical angle (degrees), clivus length, and presence or absence of syringohydromyelia, basilar invagination and congenital craniovertebral junction osseous anomalies. After imaging review, we accessed the institutional health care clinical database to determine whether each subject clinically met criteria for Chiari 1 malformation or complex Chiari malformation. Obex level and craniocervical angle measurements showed statistically significant differences between the populations with complex Chiari malformation and uncomplicated Chiari 1 malformation. Cerebellar tonsillar descent and perpendicular distance to basion-C2 line measurements trended toward but did not meet statistical significance. Odontoid retroflexion, craniovertebral junction osseous anomalies, and syringohydromyelia were all observed proportionally more often in children with complex Chiari malformation than in

  20. Anorectal function and morphology in patients with sporadic proctalgia fugax.

    Science.gov (United States)

    Eckardt, V F; Dodt, O; Kanzler, G; Bernhard, G

    1996-07-01

    The pathophysiology of sporadic proctalgia fugax remains unknown. This study investigates whether patients with this syndrome exhibit alterations in anal function and morphology. Eighteen patients with sporadic proctalgia fugax and 18 sex-matched and age-matched healthy controls were studied. Manometric studies investigated anal resting and squeeze pressures, the rectoanal inhibitory reflex, rectal compliance, and smooth muscle response to edrophonium chloride administration. External and internal sphincter thickness was measured endosonographically. Patients had slightly higher (P = 0.0291) anal resting pressures (65.5 +/- 11.4 mmHg) than controls (56 +/- 9.9 mmHg). However, anal squeeze pressure, sphincter relaxation during rectal distention, and rectal compliance were similar in both groups, and no alterations were detected in external and internal anal sphincter thickness. Edrophonium chloride administration was followed by sharp postrelaxation contractions in two patients, whereas anal function remained unaltered in controls. Acute episodes of proctalgia, which occurred in two patients while under study, were associated with a rise in anal resting tone and an increase in slow wave amplitude. In the resting state, patients with proctalgia fugax have normal anorectal function and morphology. However, they may exhibit a motor abnormality of the anal smooth muscle during an acute attack.

  1. Anorectal functional outcome after repeated transanal endoscopic microsurgery.

    Science.gov (United States)

    Zhang, Hong-Wei; Han, Xiao-Dong; Wang, Yu; Zhang, Pin; Jin, Zhi-Ming

    2012-10-28

    To evaluate the status of anorectal function after repeated transanal endoscopic microsurgery (TEM). Twenty-one patients undergoing subtotal colectomy with ileorectal anastomosis were included. There were more than 5 large (> 1 cm) polyps in the remaining rectum (range: 6-20 cm from the anal edge). All patients, 19 with villous adenomas and 2 with low-grade adenocarcinomas, underwent TEM with submucosal endoscopic excision at least twice between 2005 and 2011. Anorectal manometry and a questionnaire about incontinence were carried out at week 1 before operation, and at weeks 2 and 3 and 6 mo after the last operation. Anal resting pressure, maximum squeeze pressure, maximum tolerable volume (MTV) and rectoanal inhibitory reflexes (RAIR) were recorded. The integrity and thickness of the internal anal sphincter (IAS) and external anal sphincter (EAS) were also evaluated by endoanal ultrasonography. We determined the physical and mental health status with SF-36 score to assess the effect of multiple TEM on patient quality of life (QoL). All patients answered the questionnaire. Apart from negative RAIR in 4 patients, all of the anorectal manometric values in the 21 patients were normal before operation. Mean anal resting pressure decreased from 38 ± 5 mmHg to 19 ± 3 mmHg (38 ± 5 mmHg vs 19 ± 3 mmHg, P = 0.000) and MTV from 165 ± 19 mL to 60 ± 11 mL (165 ± 19 mL vs 60 ± 11 mL, P = 0.000) at month 3 after surgery. Anal resting pressure and MTV were 37 ± 5 mmHg (38 ± 5 mmHg vs 37 ± 5 mmHg, P = 0.057) and 159 ± 19 mL (165 ± 19 mL vs 159 ± 19 mL, P = 0.071), respectively, at month 6 after TEM. Maximal squeeze pressure decreased from 171 ± 19 mmHg to 62 ± 12 mmHg (171 ± 19 mmHg vs 62 ± 12 mmHg, P = 0.000) at week 2 after operation, and returned to normal values by postoperative month 3 (171 ± 19 vs 166 ± 18, P = 0.051). RAIR were absent in 4 patients preoperatively and in 12 (χ(2) = 4.947, P = 0.026) patients at month 3 after surgery. RAIR was absent only

  2. Embolization of spinal arteriovenous malformations

    International Nuclear Information System (INIS)

    Son, Mi Young; Kim, Sun Yong; Park, Bok Hwan

    1990-01-01

    Recently, therapeutic embolization has been advocated as the treatment of choice for spinal AVM(arteriovenous malformations). The authors review our experience with two cases of spinal AVM treated by embolization using coaxial Tracker-18 microcatheter with Latvian. The patients included a 10 year old male with glomus type and a 14 year old female with juvenile type spinal AVM revealed recanalization 5 month later. Embolization provides curative or temporary treatment for spinal AVM. After embolic occlusion, delayed reassessment with arteriography is indicated, particularly if symptoms persist or recur

  3. Combined laparoscopic abdomino-endoscopic perineal total mesorectal excision for anorectal malignant melanoma: A case report

    Directory of Open Access Journals (Sweden)

    Ryo Ohta

    Full Text Available Introduction: This report presents a case of anorectal malignant melanoma treated with combined laparoscopic abdomino-endoscopic perineal total mesorectal excision. Presentation of case: An 82-year-old female presented with hematochezia. Colonoscopy revealed a 5-cm tumor in the anorectal junction, and biopsy specimen showed malignant melanoma. Modified ransanal total mesorectal excision was performed to get the sufficient surgical resection margins. After lymph node dissection in usual manner, mobilizing the rectum to the level of levator ani muscle. Then a skin incision was made around the anus and the transperineal access platform was placed. The fat tissue of the ischioanal fossa was divided until the levator ani muscle was exposed. The oral side of the colon was transected and specimen was extracted through the perineal incision site. Then stoma was placed laparoscopically. Discussion: This procedure provides not only better exposure of the extralevator surgical field, but also efficient resection margins compared with the conventional andominoperineal resection. Conclusion: To the best of our knowledge, this is the first report of combined laparoscopic abdomino-endoscopic perineal total mesorectal excision for anorectal malignant melanoma. Our experience showed safety and feasible option for anorectal malignant diseases. Keywords: Anorectal malignant melanoma, Transanal total mesorectal excision, Laparoscopic abdominoperineal resection, Case report

  4. Anorectal stenosis after treatment with tumor necrosis factor α antibodies: a case series

    Directory of Open Access Journals (Sweden)

    Keegan Denise

    2010-07-01

    Full Text Available Abstract Introduction We identified three patients who developed anorectal stenosis after successful treatment with anti-tumor necrosis factor α (anti-TNF-α agents. Case presentation Two patients, a 24-year-old Irish Caucasian man and a 64-year-old Irish Caucasian woman, developed symptoms attributable to anorectal stenosis four to six weeks after treatment. A further patient, a 25-year-old Irish Caucasian male, presented three years after treatment with anorectal stenosis, having been asymptomatic with his stenosis for the preceding three years. No patients had evidence of active inflammation at time of representation or had previous anal canal surgery. Conclusion Anorectal stenosis in these patients appears to be independent of active inflammation. No other cause of new stenosis could be identified. We postulate that rapid clinical response to anti-TNF-α agents led to aberrant mucosal healing. This in turn led to anorectal stenosis. This is the first report of this complication in association with the use of biologic agents.

  5. The diagnostic concordance of endoanal ultrasonography and endoanal MRI in cases of anorectal fistula

    International Nuclear Information System (INIS)

    Kim, Wan Tae; Yoo, Weon Young; Moon, Hee Jung; Shin, Hyun Ja; Joo, Jae Sik

    2000-01-01

    To evaluate the preoperative diagnostic concordance of morphologic classification of anorectal fistula by endoanal ultrasonography (EUSG) and endoanal magnetic resonance imaging (EMRI). Between January 1998 and March 1999, 17 patients with anorectal fistula underwent endoanal ultrasonography and magnetic resonance imaging for preoperative assessment. The types of fistula and abscess formation were evaluated, and the findings compared with those obtained during surgery. The overall accordance of anorectal fistula was 76% (13 of 17 cases) on ultrasonography and 94% (16 of 17 cases) on magnetic resonance imaging. According to the findings of EUSG, the accordance of each type of anorectal fistula was as follows: transphineteric, 92% (11 of 12 cases); suprasphinteric, 33% (1 of 3); and extrasphincteric, 50% (1 of 2), while for EMRI, the respective figures were 100% (12 of 12 cases), 67% (2 of 3), and 100% (2 of 2). An analysis of reproducibility using kappa value showed that overall concordance between endoanal ultrasonography and surgery (κ=0.820) as well as between endoanal MRI and surgery (κ=0.866), was very close. For the evaluation of anorectal fistula, preoperative endoanal magnetic resonance imaging was more accurate and informative than endoanal ultrasonography

  6. Genetics Home Reference: megalencephaly-capillary malformation syndrome

    Science.gov (United States)

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Megalencephaly Educational Resources (5 links) Boston Children's Hospital: Capillary Malformation Cincinnati Children's Hospital: Capillary Malformations ...

  7. Fetal chromosome abnormalities and congenital malformations: an ...

    African Journals Online (AJOL)

    The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

  8. Congenital malformations among newborns in Kenya | Muga ...

    African Journals Online (AJOL)

    Therefore, a study was conducted to determine the patterns and incidence of congenital malformations at birth in newborns in Kenya and thereby analyze associated predisposing factors in their mothers. This single cross-sectional ... followed by malformations of the central nervous system (28.6%). Polydactyl was the most ...

  9. Skeletal malformations in fetuses with Meckel syndrome

    DEFF Research Database (Denmark)

    Kjaer, K W; Fischer Hansen, B; Keeling, J W

    1999-01-01

    one foot was normal. Malformations of the cranial base (the basilar part of the occipital bone or the postsphenoid bone) occurred in five cases, and the vertebral bodies in the lumbar region of the spine were malformed (cleft) in three cases. It is proposed that a skeletal analysis be included...

  10. Cerebellar arteriovenous malformations in children

    Energy Technology Data Exchange (ETDEWEB)

    Griffiths, P.D. [Sheffield Univ. (United Kingdom). Acad. Dept. of Radiol.; Blaser, S.; Armstrong, D.; Chuang, S.; Harwood-Nash, D. [Division of Neuroradiology, The Hospital for Sick Children and University of Toronto, Toronto (Canada); Humphreys, R.P. [Division of Neurosurgery, The Hospital for Sick Children and University of Toronto, Toronto (Canada)

    1998-05-01

    We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.) With 4 figs., 4 tabs., 23 refs.

  11. Subfascial involvement in glomuvenous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Shaikh, Raja; Alomari, Ahmad I.; Chaudry, Gulraiz [Boston Children' s Hospital, Division of Interventional Radiology, Boston, MA (United States); Mulliken, John B. [Boston Children' s Hospital, Division of Plastic Surgery, Boston, MA (United States); Fishman, Steven J. [Boston Children' s Hospital, Department of Surgery, Boston, MA (United States); Kozakewich, Harry P.W. [Boston Children' s Hospital, Department of Pathology, Boston, MA (United States)

    2014-07-15

    Glomuvenous malformation (GVM) is an inherited autosomal dominant trait. The lesions, which appear as bluish nodules or plaque-like cutaneous elevations, are usually tender and more firm than sporadic venous malformations. Conventionally, the lesions are thought to be limited to the cutaneous and subcutaneous tissue planes. The objective was to characterize the depth of involvement of GVM lesions. Magnetic resonance imaging (MRI) findings in GVM were retrospectively evaluated by two radiologists. The signal characteristics, tissue distribution, pattern of contrast enhancement of the lesions in GVM were documented. Thirty patients (19 female) aged 1-35 years (mean 18 years) were diagnosed with GVM based on clinical features (n = 20) and/or histopathological findings (n = 10). The lesions were present in the lower extremity (n = 15), upper extremity (n = 6), cervico-facial region (n = 6), pelvis (n = 2), and chest wall (n = 1). All patients had skin and subcutaneous lesions. Fifty percent of the patients (n = 15) demonstrated subfascial intramuscular (n = 15), intra-osseous (n = 1), and intra-articular involvement (n = 1). Contrary to the conventional belief that GVMs are generally limited to the skin and subcutaneous tissue, deep subfascial extension of the lesions is common. (orig.)

  12. Cerebellar arteriovenous malformations in children

    International Nuclear Information System (INIS)

    Griffiths, P.D.; Humphreys, R.P.

    1998-01-01

    We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.)

  13. Anorectal function in patients with complete rectal prolapse. Differences between continent and incontinent individuals.

    Science.gov (United States)

    Roig, J V; Buch, E; Alós, R; Solana, A; Fernández, C; Villoslada, C; García-Armengol, J; Hinojosa, J

    1998-11-01

    A study is made of the alterations in anorectal physiology among rectal prolapse patients, evaluating the differences between fecal continent and incontinent individuals. Eighteen patients with complete rectal prolapse were divided into two groups: Group A (8 continent individuals) and Group B (10 incontinent women), while 22 healthy women were used as controls (Group C). Clinical exploration and perineal level measurements were performed, along with anorectal manometry, electrophysiology, and anorectal sensitivity to electrical stimuli. The main antecedents of the continent subjects were excess straining efforts, while the incontinent women presented excess straining and complex deliveries. Pathological perineal descent was a frequent finding in both groups, with a hypotonic anal canal at rest (p rest than the continent women (p rest, regardless of whether they are continent to feces or not. Continent patients have less pudendal neuropathy and therefore less pressure alterations at voluntary sphincter squeeze than incontinent individuals.

  14. VMN hypothalamic dopamine and serotonin in anorectic septic rats.

    Science.gov (United States)

    Torelli, G F; Meguid, M M; Miyata, G; Fetissov, S O; Carter, J L; Kim, H J; Muscaritoli, M; Rossi Fanelli, F

    2000-03-01

    During sepsis, catabolism of proteins and associated changes in plasma amino acids occur. Tryptophan and tyrosine, and their derivatives serotonin (5-HT) and dopamine (DA), influence hypothalamic feeding-related areas and are associated with the onset of anorexia. We hypothesized that anorexia of sepsis is associated with changes in serotonin and dopamine in the ventromedial nucleus (VMN) of the hypothalamus. The aim of this study was to test our hypothesis by measuring intra-VMN changes of these two neurotransmitters at the onset of anorexia during sepsis. Fischer 344 male rats had an intracerebral guide cannula stereotaxically implanted into the VMN. Ten days later, in awake, overnight-food-deprived rats, a microdialysis probe was inserted through the in situ VMN cannula. Two hours thereafter, serial baseline serotonin and dopamine concentrations were measured. Then cecal ligation and puncture to induce sepsis or a control laparotomy was performed under isoflurane anesthesia. VMN microdialysis samples were serially collected every 30 min for 8 h after the surgical procedure to determine 5-HT and DA changes in response to sepsis. During the hypermetabolic response to sepsis, a strong association occurred between anorexia and a significant reduction of VMN dopamine concentration (P anorexia of sepsis. Six hours after operation, a single meal was offered for 20 min to assess the response of neurotransmitters to food ingestion. Food intake was minimal in anorectic septic rats (mean size of the after food-deprived meal in the Septic group was 0.03+/-0.01 g, that of the Control group was 1.27+/-0.14 g; P = 0.0001), while Control rats demonstrated anticipated changes in neurotransmitters in response to eating. We conclude that the onset of anorexia in septic rats is associated with a reduction in VMN dopamine.

  15. Effects of nifedipine on anorectal smooth muscle in vitro.

    Science.gov (United States)

    Cook, T A; Brading, A F; Mortensen, N J

    1999-06-01

    Glyceryl trinitrate reduces anal resting pressure and aids the healing of anal fissures. However, some patients develop tachyphylaxis and the fissure fails to heal, suggesting that other agents are needed. This study assesses the effects of nifedipine (a calcium channel antagonist) in modulating resting tone and agonist-induced contractions in human internal anal sphincter (IAS) and rectal circular muscle. Smooth muscle strips from the IAS and rectal circular muscle from ten patients undergoing surgical resection were mounted for isometric tension recording in a superfusion organ bath. The effects of noradrenaline and carbachol were assessed in the presence of various perfusates. LAS strips developed tone and spontaneous activity. Noradrenaline produced dose-dependent contractions. In calcium-free Krebs solution, tone and activity were abolished and no contractions were elicited in response to noradrenaline. Nifedipine also abolished tone and spontaneous activity, but contractions to noradrenaline were only slightly attenuated. In contrast, rectal smooth muscle strips developed spontaneous activity but no resting tone and contracted in response to carbachol. In calcium-free Krebs solution, the spontaneous activity and carbachol contractions were abolished. Addition of nifedipine to the perfusate abolished spontaneous activity and greatly reduced contractions. These data suggest that spontaneous activity and resting tone are dependent on extracellular calcium and flux across the cells. Agonist-induced contraction in the IAS is attributable mainly to the release of calcium from intracellular stores, whereas rectal circular smooth muscle depends principally on extracellular calcium entering the cell for contraction. The attenuation of contractions in both tissues and the abolition of resting tone in the IAS suggest that nifedipine may be useful in the management of patients with anorectal disorders.

  16. Arteriovenous malformations of the uterus.

    Science.gov (United States)

    Cura, M; Martinez, N; Cura, A; Dalsaso, T J; Elmerhi, F

    2009-09-01

    Arterial venous malformations (AVM) of the uterus are uncommon entities and should be considered in patients who present with profuse genital bleeding. There are two types of uterine AVM: acquired and congenital. Acquired uterine AVMs are conformed by communications between the uterine arteries and the myometrial veins, and are caused by an iatrogenic event or a pathological condition. Congenital AVMs are the result of abnormal development of primitive vessels that result in connections between pelvic arteries and veins in the uterus without an interconnecting capillary bed. Ultrasonography is a noninvasive diagnostic method able to demonstrate and characterize AVMs of the uterus. AVM in the pelvis may be noted incidentally by computed tomography (CT) of the pelvis, and magnetic resonance imaging (MRI) is frequently used to confirm and further characterize the sonographic findings of uterine AVM. Catheter angiography and embolization are very effective in defining the vascular anatomy and treating uterine vascular abnormalities.

  17. A new classification for cochleovestibular malformations.

    Science.gov (United States)

    Sennaroglu, Levent; Saatci, Isil

    2002-12-01

    The report proposes a new classification system for inner ear malformations, based on radiological features of inner ear malformations reviewed in 23 patients. The investigation took the form of a retrospective review of computerized tomography findings relating to the temporal bone in 23 patients (13 male and 10 female patients) with inner ear malformations. The subjects were patients with profound bilateral sensorineural hearing loss who had all had high-resolution computed tomography (CT) with contiguous 1-mm-thick images obtained through the petrous bone in axial sections. The CT results were reviewed for malformations of bony otic capsule under the following subgroups: cochlear, vestibular, semicircular canal, internal auditory canal (IAC), and vestibular and cochlear aqueduct malformations. Cochlear malformations were classified as Michel deformity, common cavity deformity, cochlear aplasia, hypoplastic cochlea, incomplete partition types I (IP-I) and II (IP-II) (Mondini deformity). Incomplete partition type I (cystic cochleovestibular malformation) is defined as a malformation in which the cochlea lacks the entire modiolus and cribriform area, resulting in a cystic appearance, and there is an accompanying large cystic vestibule. In IP-II (the Mondini deformity), there is a cochlea consisting of 1.5 turns (in which the middle and apical turns coalesce to form a cystic apex) accompanied by a dilated vestibule and enlarged vestibular aqueduct. Four patients demonstrated anomalies involving only one inner ear component. All the remaining patients had diseases or conditions affecting more than one inner ear component. Eight ears had IP-I, and 10 patients had IP-II. Ears with IP-I had large cystic vestibules, whereas the amount of dilation was minimal in patients with IP-II. The majority of the semicircular canals (67%) were normal. Semicircular canal aplasia accompanied cases of Michel deformity, cochlear hypoplasia, and common cavity. In 14 ears, the IAC had a

  18. Congenital heart defects and extracardiac malformations.

    Science.gov (United States)

    Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

    2013-06-01

    To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

  19. Chiari malformations: diagnosis, treatments and failures.

    Science.gov (United States)

    Abd-El-Barr, M M; Strong, C I; Groff, M W

    2014-12-01

    Chiari malformations refer to abnormalities of the hindbrain originally described by the Austrian pathologist Hans Chiari in the early 1890s. These malformations range from herniation of the cerebellar tonsils through the foramen magnum to complete agenesis of the cerebellum. In this review, we review the different classification schemes of Chiari malformations. We discuss the different signs and symptoms that the two most common malformations present with and diagnostic criteria. We next discuss current treatment paradigms, including the new measure of possible in utero surgery to help decrease the incidence of Chiari type II malformations. There is also a small discussion of treatment failures and salvage procedures in these difficult cases. Chiari malformations are a difficult clinical entity to treat. As more is learned about the genetic and environmental factors relating to their characteristics, it will be interesting if we are able to predict which treatments are better suited for different patients. Similarly, with the evolution of in utero techniques especially for Chiari II malformations, it will be interesting to see if the incidence and practice of treating these difficult patients will change.

  20. Fecoflowmetric Analysis of Anorectal Motor Function in Postoperative Anal-Preserving Surgery Patients With Low Rectal Cancer Comparison With the Wexner Score and Anorectal Manometry

    Science.gov (United States)

    Ryu, Yasuhiko; Akagi, Yoshito; Yagi, Minoru; Sasatomi, Teruo; Kinugasa, Tetsushi; Yamaguchi, Keizo; Oka, Yousuke; Fukahori, Suguru; Shiratsuchi, Ichitaro; Yoshida, Takefumi; Gotanda, Yukito; Tanaka, Natsuki; Ohchi, Takafumi; Romeo, Kansakar; Shirouzu, Kazuo

    2015-01-01

    The aim of this study was to elucidate whether fecoflowmetry (FFM) could evaluate more detailed evacuative function than anorectal manometry by comparing between FFM or anorectal manometric findings and the clinical questionnaires and the types of surgical procedure in the patients who received anal-preserving surgery. Fifty-three patients who underwent anal-preserving surgery for low rectal cancer were enrolled. The relationships between FFM or the manometric findings and the clinical questionnaires and the types of procedure of anal-preserving surgery were evaluated. There were significant differences between FFM markers and the clinical questionnaire and the types of the surgical procedure, whereas no significant relationship was observed between the manometric findings and the clinical questionnaire and the types of the surgical procedure. FFM might be feasible and useful for the objective assessment of evacuative function and may be superior to manometry for patients undergoing anal-preserving surgery. PMID:25594637

  1. Pattern and outcome of gross congenital malformations at birth ...

    African Journals Online (AJOL)

    Background: Congenital malformation(s) do occur in newborns and are thought to be often responsible for a significant proportion of perinatal morbidity and mortality worldwide. Objective: This prospective study was designed to determine the pattern and outcome of congenital malformation(s) among newborn deliveries ...

  2. The hypothalamic satiety peptide CART is expressed in anorectic and non-anorectic pancreatic islet tumors and in the normal islet of Langerhans.

    Science.gov (United States)

    Jensen, P B; Kristensen, P; Clausen, J T; Judge, M E; Hastrup, S; Thim, L; Wulff, B S; Foged, C; Jensen, J; Holst, J J; Madsen, O D

    1999-03-26

    The hypothalamic satiety peptide CART (cocaine and amphetamine regulated transcript) is expressed at high levels in anorectic rat glucagonomas but not in hypoglycemic insulinomas. However, a non-anorectic metastasis derived from the glucagonoma retained high CART expression levels and produced circulating CART levels comparable to that of the anorectic tumors. Moreover, distinct glucagonoma lines derived by stable HES-1 transfection of the insulinoma caused severe anorexia but retained low circulating levels of CART comparable to that of insulinoma bearing or control rats. Islet tumor associated anorexia and circulating CART levels are thus not correlated, and in line with this peripheral administration of CART (5-50 mg/kg) produced no effect on feeding behavior. In the rat two alternatively spliced forms of CART mRNA exist and quantitative PCR revealed expression of both forms in the hypothalamus, in the different islet tumors, and in the islets of Langerhans. Immunocytochemistry as well as in situ hybridization localized CART expression to the somatostatin producing islet D cell. A potential endocrine/paracrine role of islet CART remains to be clarified.

  3. Anorectal function and outcomes after transanal minimally invasive surgery for rectal tumors

    Directory of Open Access Journals (Sweden)

    Feza Y Karakayali

    2015-01-01

    Full Text Available Background: Transanal endoscopic microsurgery is a minimally invasive technique that allows full-thickness resection and suture closure of the defect for large rectal adenomas, selected low-risk rectal cancers, or small cancers in patients who have a high risk for major surgery. Our aim, in the given prospective study was to report our initial clinical experience with TAMIS, and to evaluate its effects on postoperative anorectal functions. Materials and Methods: In 10 patients treated with TAMIS for benign and malignant rectal tumors, preoperative and postoperative anorectal function was evaluated with anorectal manometry and Cleveland Clinic Incontinence Score. Results: The mean distance of the tumors from the anal verge was 5.6 cm, and mean tumor diameter was 2.6 cm. All resection margins were tumor free. There was no difference in preoperative and 3-week postoperative anorectalmanometry findings; only mean minimum rectal sensory volume was lower at 3 weeks after surgery. The Cleveland Clinic Incontinence Score was normal in all patients except one which resolved by 6 weeks after surgery.The mean postoperative follow-up was 28 weeks without any recurrences. Conclusion: Transanal minimally invasive surgery is a safe and effective procedure for treatment of rectal tumors and can be performed without impairing anorectal functions.

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

    Science.gov (United States)

    Vincent, C

    1999-03-01

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

  5. Anorectal physiology measurements are of no value in clinical practice. True or false?

    Science.gov (United States)

    Carty, N. J.; Moran, B.; Johnson, C. D.

    1994-01-01

    This article examines whether there is any clinical value in anorectal physiology measurements. The function of the human rectum is poorly understood and the factors which affect function of the anal sphincters are complex. Several laboratories have reported results of anorectal physiology measurements, but there is extensive variation between normal values in different laboratories. It is argued that anorectal physiology measurements fail to meet the criteria of a useful clinical test: 1. It is not widely available to clinicians; 2. It is not possible to establish a reproducible normal range; 3. Abnormal measurements do not correlate with disease entities or explain symptoms; 4. The results are often unhelpful in diagnosis and management; 5. Clinical outcome after intervention does not correlate with alteration in the measurements obtained. On the other hand it can be argued that anorectal physiology measurements do provide information that assists in the management of conditions such as constipation, anismus, Hirschsprung's disease, faecal incontinence and tenesmus. Management based on biofeedback modification of physiological responses requires these techniques as part of the biofeedback system. There is evidence that this may be appropriate in anismus and solitary rectal ulcer syndrome. However, the assessment of these difficult conditions and the interpretation of the results are probably at present best confined to specialist units. PMID:8074392

  6. Short-term outcome of posterior anorectal myectomy for treatment of ...

    African Journals Online (AJOL)

    Purpose: Many children with idiopathic constipation (IC) fail to improve with bowel management program. The role of surgical treatment in this subset of patients with intractable IC is still controversial. The aim of this study was to assess the outcome of anorectal myectomy in treatment of intractable IC. Patients and methods: ...

  7. Dose-effect relationships for individual pelvic floor muscles and anorectal complaints after prostate radiotherapy.

    NARCIS (Netherlands)

    Smeenk, R.J.; Hoffmann, A.L.; Hopman, W.P.M.; Lin, E.N.J.T. van; Kaanders, J.H.A.M.

    2012-01-01

    PURPOSE: To delineate the individual pelvic floor muscles considered to be involved in anorectal toxicity and to investigate dose-effect relationships for fecal incontinence-related complaints after prostate radiotherapy (RT). METHODS AND MATERIALS: In 48 patients treated for localized prostate

  8. Cardiovascular malformations in infants of diabetic mothers

    OpenAIRE

    Wren, C; Birrell, G; Hawthorne, G

    2003-01-01

    Objective: To compare the prevalence at live birth and the spectrum of cardiovascular malformations in infants born to diabetic mothers with pre-existing diabetes with that in infants of non-diabetic mothers.

  9. Human malformations induced by environmental noxae

    International Nuclear Information System (INIS)

    Hecker, W.C.; Angerpointner, T.A.

    1980-01-01

    The paper reviews congenital malformations in humans and presents possible causes. 60% of all malformations are a result of environmental and other factors; i.e. not hereditary or caused by a disease of the mother. The teratogenic effects of ionizing radiation, drugs, alcohol, polyvinyl chloride and trichlorophenol are discussed as well as the effect of the mother's working in certain fields, e.g. clinical laboratories or printing offices; in the latter case the teratogenic noxae are still unknown. Efficient research requires centralized storage of all data on children born with malformations and on the mother's health situation during pregnancy, and the legislator is asked to do so while observing the law on data protection. Foundation of a German Institute of Teratology is recommended. In order to intensify research, it is suggested to set up groups or departments for research on malformations in some major paediatric hospitals. (MG) [de

  10. Chiari I malformation associated with turner syndrome

    Directory of Open Access Journals (Sweden)

    Kamble Jayaprakash Harsha

    2017-01-01

    Full Text Available Turner syndrome (TS is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan's syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.

  11. Syringomyelia associated with Chiari malformation in children

    International Nuclear Information System (INIS)

    Sakamoto, Hiroaki; Kitano, Shouhei; Nishikawa, Misao; Yasui, Toshihiro; Fujitani, Ken; Hakuba, Akira; Nakanishi, Naruhiko

    1997-01-01

    Among 28 patients with myelomeningocele (MMC group), the myelomeningocele in all patients was repaired shortly after birth, and a shunt was implanted for the associated hydrocephalus in 18 patients. MRI of the group of 28 indicated 20 were afflicted with Chiari II malformation, and the remaining 8 by Chiari I malformation. Among 8 patients lacking myelomeningocele (non-MMC group), seven demonstrated a large syrinx at the cervical and cervico-thoracic level; only one had a syrinx extending from the cervical level down to the lumbar level. None of these patients had hydrocephalus. Surgical decompression to improve cerebrospinal fluid (CSF) flow at the major cistern improved neurological signs in 7 patients. MRI indicated 4 patients were afflicted with Chiari I malformation, and the remaining 4 with Chiari II malformation. In the MMC group, the initial development of the syrinx at the lumbar level may be the result of a combination of occlusion of the caudal end of the central canal brought about by repair of the myelomeningocele and CSF flow into the hydromyelic cavity via the patent proximal portion of the central canal. In the non-MMC group, the syringomyelia may be considered an early onset type of syringomyelia associated with adult type Chiari malformation because the location of the syrinx was quite similar to that found in adult type Chiari malformation, and decompressive surgery was quite effective. In the non-MMC group, turbulence of the CSF now at the major cistern caused by the herniated cerebellum plays an important role in the enlargement of the syringomyelia. To offer greater appropriate management of pediatric Chiari malformation accompanied by syringomyelia, the malformation should be classified not by degree of the herniated brain tissue but by its association with neural tube defect (myelomeningocele). (K.H.)

  12. Congenital pseudoarthrosis associated with venous malformation

    International Nuclear Information System (INIS)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N.; Hamamy, H.; Al-Hadidi, S.

    2007-01-01

    Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

  13. Common congenital malformations of the brain

    International Nuclear Information System (INIS)

    Naidich, T.P.; Zimmerman, R.A.

    1987-01-01

    In nearly all cases, congenital malformations are characterized most easily by their anatomic features and are best images with T1-weighted short TR/short TE pulse sequences. T2-weighted, long TR/long TE images are used primarily for the phakomatoses that are commonly associated with brain tumors. This chapter reviews the features of the most common congenital malformations and illustrates their typical magnetic resonance imaging (MRI) appearance

  14. Congenital bronchopulmonary foregut malformations: concepts and controversies

    International Nuclear Information System (INIS)

    Newman, Beverley

    2006-01-01

    This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions are discussed in more detail, particularly regarding controversial issues in classification, understanding, imaging and management. (orig.)

  15. Congenital pseudoarthrosis associated with venous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)

    2007-06-15

    Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

  16. Congenital bronchopulmonary foregut malformations: concepts and controversies

    Energy Technology Data Exchange (ETDEWEB)

    Newman, Beverley [University of Pittsburgh School of Medicine and Children' s Hospital of Pittsburgh, Pittsburgh, PA (United States)

    2006-08-15

    This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions are discussed in more detail, particularly regarding controversial issues in classification, understanding, imaging and management. (orig.)

  17. Terminal hemimyelocystocele associated with Chiari II malformation

    Directory of Open Access Journals (Sweden)

    Umamaheswara Reddy V.

    2014-06-01

    Full Text Available Terminal myelocystocele (TMC results from failure of embryonic CSF to drain outside the neural tube creating CSF reservoir within a dorsal meningocele. Association of Chiari II malformation with diastematomyelia and myelocystocele is extremely rare. Myelocystoceles do not have neural tissue so they have good prognosis after treatment, however when associated with hydromelia and Chiari malformation they present with neurological deficits. We present details of a 2 year old female who presented to us with this rare anomaly.

  18. [Neonatal tumours and congenital malformations].

    Science.gov (United States)

    Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

    2008-06-01

    The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

  19. Characteristics and treatment of cavernous malformations

    International Nuclear Information System (INIS)

    Takagi, Kenji; Ishida, Mitsuaki; Okabe, Hidetoshi; Nozaki, Kazuhiko

    2013-01-01

    Cavernous malformations are clusters of dilated sinusoidal channels with thin walls devoid of elastin and smooth muscle. They have no intervening brain tissue. They occur both in sporadic and familial forms. The genes responsible for cavernous malformations have been identified. Recent reports show that mutations of these responsible genes are involved not only in familial but also in sporadic forms. Germline and somatic mutations may occur before cavernous malformations develop (two-hit mechanism). Two patterns, with mulberry-like and hematoma-like appearances, are seen intraoperatively, and from histological findings, mulberry-like appearance may change into hematoma-like one by intralesional hemorrhage. Cavernous malformation treatments include open surgery and radiosurgery. Open surgery is usually chosen for the treatment of symptomatic hemorrhagic cavernous malformations because post-radiosurgical annual bleeding risks at the early phase seem to be higher than those of open surgery. If open surgery has a high risk because of lesion location, radiosurgery becomes an effective alternative treatment. Brainstem cavernous malformations have high annual bleeding and re-bleeding incidence, so if the lesion is accessible with low risk, open surgery is recommended. (author)

  20. [Utility of anorectal manometry in the diagnosis and treatment of encopresis].

    Science.gov (United States)

    Blesa Sierra, Ma; Núñez Núñez, R; Blesa Sánchez, E; Vargas, I; Cabrera García, R

    2004-04-01

    Biofeedback based on anomanometric techniques has been shown to be effective in the treatment of children with encopresis. The long-term efficacy of biofeedback and which variables of anorectal manometry (anorectal manometry) could help to establish biofeedback indications are currently the subject of debate. To identify which variables of anorectal manometry, in addition to symptoms, could be useful in deciding which patients could benefit from biofeedback therapy and to assess the outcome of this treatment. Anorectal manometry was performed in 88 patients, who were referred to our service complaining of soiling at least once a month for a minimum of 6 months after a period of normal continence of 1 year or more. The chronological and mental age of the patients was 4 years. All patients were otherwise in good health and had shown no response to medical treatment. The following variables were studied: anal canal profile, rectoanal inhibitory reflex (RAIR), continence reflex, rectal sensitivity, external anal sphincter (EAS) activity and defecatory maneuver. The patients were divided into two groups, according to clinical and anomanometric impairment, and the most affected patients (n = 41) underwent biofeedback therapy. The indications and outcome of biofeedback were assessed through clinical course and anorectal manometry. In the statistical analysis, the mean and standard deviation were calculated. The chi-squared test with Yates' correction was used to compare clinical and manometric qualitative parameters; Student's t-test was used to compare quantitative parameters; nonparametric tests consisted of the Mann-Whitney test and the Wilcoxon test was used for paired data. Patients treated with biofeedback therapy presented shorter anal canal, greater pressure in the rectal ampulla (P encopresis (P encopresis. Biofeedback therapy seems to produce favorable long-term results in the majority of the most severely affected patients.

  1. Anomalia anorretal e cuidados maternos Anormalidades anorectales y la atención materna Anorectal anomaly and maternal care

    Directory of Open Access Journals (Sweden)

    Manuela Costa Melo

    2011-02-01

    Full Text Available O objetivo deste artigo foi realizar um estudo de revisão bibliográfica sobre anomalia anorretal e cuidados maternos. O assunto foi abordado por meio de revisão integrativa realizada em consulta de artigos publicados nas bases de dados indexados na Biblioteca Virtual em Saúde. Foram identificadas 25 publicações que atenderam aos critérios de inclusão e exclusão pré-estabelecidos. Nos estudos analisados observaram-se distintos desenhos metodológicos demonstrando que algumas crianças nascidas com anomalia anorretal necessitam de cirurgia de urgência. Os profissionais de saúde, juntamente aos pais, precisam desenvolver parcerias que possibilitem um acompanhamento a longo prazo e orientações cuidadosas. Faz-se necessário que novas pesquisas sejam realizadas sobre o tema, com propostas metodológicas que retratem melhor a essência do cuidado com as crianças estomizadasEl objetivo de este artículo fue realizar un estudio de revisión bibliográfica sobre anomalía ano retal y cuidados maternos. El asunto fue abordado por medio de una revisión integral realizada por consulta de artículos publicados en las bases de datos indexados en la Biblioteca Virtual en Salud. Fueron identificadas 25 publicaciones que atendieron a los criterios de inclusión y exclusión pre-establecidos. En los estudios analizados se observaron distintos dibujos metodológicos demostrando que algunos niños nacidos con anomalía ano retal necesitan de cirugía de urgencia. Los profesionales de salud, juntamente con los padres, necesitan desarrollar grupos que posibiliten un acompañamiento a largo plazo y orientaciones cuidadosas. Se hace necesario que nuevos estudios sean realizados sobre el tema, con propuestas metodológicas que retraten mejor la esencia del cuidado con los niños con ostomíaThis purpose of the article was to make a bibliographic review about anorectal malformations and maternal cares. The matter was addressed through an integrative

  2. Giant pediatric cervicofacial lymphatic malformations.

    Science.gov (United States)

    Benazzou, Salma; Boulaadas, Malik; Essakalli, Leila

    2013-07-01

    Lymphatic malformations (LMs) are benign lesions. Most of them are found in head and neck regions as asymptomatic mass, but giant lymphangiomas may affect breathing or swallowing and constitute a major therapeutic challenge. A retrospective analysis of giant head and neck LMs with impairment of respiration or swallow for the past 11 years was performed in the Department of Maxillofacial Surgery and ENT of the Avicenne Medical University Center. Seven patients with large and extensive LMs of the head and neck were identified. There were 3 males and 4 females with a mean age of 6 years. The predominant reason for referral was airway compromise necessitating tracheostomy (57%) and dysphagia (43%). Three patients had macrocystic lesions; others were considered mixed or microcystic. All the patients underwent surgical excision as a primary treatment modality. Complete surgical resection was realized in 4 patients, and subtotal resection in 3 patients. Of 7 patients, 4 patients had complications including nerve damage and recurrence of the disease. The majority of the patients underwent only a single surgical procedure. Cervicofacial LMs in children should be managed in multidisciplinary setting. Surgery remains the first treatment for managing giant, life-threatening lesions.

  3. Management of intracranial arteriovenous malformations

    International Nuclear Information System (INIS)

    Miyamoto, Susumu; Takahashi, Jun C.

    2008-01-01

    Intracranial arteriovenous malformations (AVMs) are congenital lesions that can cause serious neurological deficits or even death. They can manifest as intracranial hemorrhage, epileptic seizure, or other symptoms such as headache or tinnitus. They are detected by computed tomography or magnetic resonance imaging. Recently there have been significant developments in the management of AVMs. In this paper, the authors represent an overview of the epidemiology of AVMs and the existing treatment strategies. AVMs are ideally excised by standard microsurgical techniques. The grading scale which was proposed by Spetzler and Martin is widely used to estimate the risk of direct surgery. Stereotactic radiosurgery such as that using a gamma knife is very useful for small lesions located in eloquent areas. Technological advances in endovascular surgery have provided new alternatives in the treatment of AVMs. Currently indications for embolization can be divided into presurgical embolization in large AVMs to occlude deep arterial feeding vessels and embolization before stereotactic radiosurgery to reduce the size of the nidus. Palliative embolization can be also applied for patients with large, inoperable AVMs who are suffering from progressive neurological deficits secondary to venous hypertension and/or arterial steal phenomenon. (author)

  4. Management of intracranial arteriovenous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Miyamoto, Susumu; Takahashi, Jun C [National Cardiovascular Center, Suita, Osaka (Japan)

    2008-10-15

    Intracranial arteriovenous malformations (AVMs) are congenital lesions that can cause serious neurological deficits or even death. They can manifest as intracranial hemorrhage, epileptic seizure, or other symptoms such as headache or tinnitus. They are detected by computed tomography or magnetic resonance imaging. Recently there have been significant developments in the management of AVMs. In this paper, the authors represent an overview of the epidemiology of AVMs and the existing treatment strategies. AVMs are ideally excised by standard microsurgical techniques. The grading scale which was proposed by Spetzler and Martin is widely used to estimate the risk of direct surgery. Stereotactic radiosurgery such as that using a gamma knife is very useful for small lesions located in eloquent areas. Technological advances in endovascular surgery have provided new alternatives in the treatment of AVMs. Currently indications for embolization can be divided into presurgical embolization in large AVMs to occlude deep arterial feeding vessels and embolization before stereotactic radiosurgery to reduce the size of the nidus. Palliative embolization can be also applied for patients with large, inoperable AVMs who are suffering from progressive neurological deficits secondary to venous hypertension and/or arterial steal phenomenon. (author)

  5. Myofibrotic malformation vessels: unique angiodysplasia toward the progression of hemorrhoidal disease

    Science.gov (United States)

    Li, Sheng-Long; Jing, Fang-Yan; Ma, Li-Li; Guo, Li-Li; Na, Feng; An, Sheng-Li; Ye, Yan; Yang, Jun-Ming; Bao, Ming; Kang, Dong; Sun, Xiao-Lan; Deng, Yong-Jian

    2015-01-01

    Background The etiology and pathogenesis of hemorrhoids is unclear, although hemorrhoids are a worldwide disease in men and women, with peak prevalence at 45–65 years of age. Hemorrhoidal cushions as the anal venous plexi are normal anatomical structures from infancy. This study attempts to reveal the angiodysplasia and other pathological changes in association with different degrees of symptomatic hemorrhoids. Materials and methods A total of 281 patients with internal hemorrhoids from degree I to IV underwent hemorrhoidectomy. The vascular changes were analyzed by microscopic assessment and software analysis, with Masson’s trichrome, CD34, and smooth muscle actin. Results The hemorrhoidal tissues exhibited abnormal vessels in the mucosae and submucosae that we termed them as myofibrotic malformation vessels (MMVs). MMVs are not ascribed to arteries or veins because they exhibit enlarged and tortuous lumens with smooth muscle dysplasia and fibrotic deposition in the walls without overlying mucosal ulceration. The muscularis mucosae also showed smooth muscle dysplasia and fibrosis, even if it were interrupted by the intruding MMVs. The statistical data indicated that the severity of all the changes correlate positively with the progression of hemorrhoids (PHemorrhoidal patients are prone for reoccurrence even with prolapsing hemorrhoid when compared with the conventional hemorrhoidectomy. Multiple logistic regression analysis showed that MMVs in mucosal propria, mean thickness of mucosal muscularis layer, and fibrotic changes in MMV were independent risk factors for MMVs in hemorrhoidal disease. Conclusion MMVs and muscularis mucosae dysplasia reciprocally contribute to hemorrhoidal exacerbation. The novel findings of this study propose that the characteristic features of MMVs and muscularis mucosae dysplasia of the anorectal tube ultimately cause symptomatic hemorrhoids, which could affect the clinical management of hemorrhoidal disease through the use of

  6. Anomalous facial nerve canal with cochlear malformations.

    Science.gov (United States)

    Romo, L V; Curtin, H D

    2001-05-01

    Anteromedial "migration" of the first segment of the facial nerve canal has been previously identified in a patient with a non-Mondini-type cochlear malformation. In this study, several patients with the same facial nerve canal anomaly were reviewed to assess for the association and type of cochlear malformation. CT scans of the temporal bone of 15 patients with anteromedial migration of the first segment of the facial nerve canal were collected from routine departmental examinations. In seven patients, the anomalous course was bilateral, for a total of 22 cases. The migration was graded relative to normal as either mild/moderate or pronounced. The cochlea in each of these cases was examined for the presence and size of the basilar, second, and apical turns. The turns were either absent, small, normal, or enlarged. The CT scans of five patients with eight Mondini malformations were examined for comparison. The degree of the facial nerve migration was pronounced in nine cases and mild/moderate in 13. All 22 of these cases had associated cochlear abnormalities of the non-Mondini variety. These included common cavity anomalies with lack of definition between the cochlea and vestibule (five cases), cochleae with enlarged basilar turns and absent second or third turns (five cases), and cochleae with small or normal basilar turns with small or absent second or third turns (12 cases). None of the patients with Mondini-type cochlear malformations had anteromedial migration of the facial nerve canal. Anteromedial migration of the facial nerve canal occurs in association with some cochlear malformations. It did not occur in association with the Mondini malformations. A cochlea with a Mondini malformation, being similar in size to a normal cochlea, may physically prohibit such a deviation in course.

  7. An International Urogynecological Association (IUGA)/International Continence Society (ICS) joint report on the terminology for female anorectal dysfunction

    OpenAIRE

    Sultan, A. H.; Monga, A.; Lee, J.; Emmanuel, A.; Norton, C.; Santoro, G.; Hull, T.; Berghmans, B.; Brody, S.; Haylen, B. T.

    2017-01-01

    INTRODUCTION AND HYPOTHESIS: The terminology for anorectal dysfunction in women has long been in need of a specific clinically-based Consensus Report. METHODS: This Report combines the input of members of the Standardization and Terminology Committees of two International Organizations, the International Urogynecological Association (IUGA) and the International Continence Society (ICS), assisted on Committee by experts in their fields to form a Joint IUGA/ICS Working Group on Female Anorectal...

  8. An International Urogynecological Association (IUGA)/International Continence Society (ICS) Joint Report on the Terminology for Female Anorectal Dysfunction

    OpenAIRE

    Sultan, A. H.; Monga, A.; Lee, J.; Emmanuel, A.; Norton, C.; Santoro, G.; Hull, T.; Berghmans, B.; Brody, S.; Haylen, B. T.

    2017-01-01

    INTRODUCTION: The terminology for anorectal dysfunction in women has long been in need of a specific clinically-based Consensus Report. METHODS: This Report combines the input of members of the Standardization and Terminology Committees of two International Organizations, the International Urogynecological Association (IUGA) and the International Continence Society (ICS), assisted on Committee by experts in their fields to form a Joint IUGA/ICS Working Group on Female Anorectal Termi...

  9. Ethanol sclerotherapy of peripheral venous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Rimon, U. E-mail: rimonu@sheba.health.gov.il; Garniek, A.; Galili, Y.; Golan, G.; Bensaid, P.; Morag, B

    2004-12-01

    Background: venous malformations are congenital lesions that can cause pain, decreased range of movement, compression on adjacent structures, bleeding, consumptive coagulopathy and cosmetic deformity. Sclerotherapy alone or combined with surgical excision is the accepted treatment in symptomatic malformations after failed treatment attempts with tailored compression garments. Objectives: to report our experience with percutaneous sclerotherapy of peripheral venous malformations with ethanol 96%. Patients and methods: 41 sclerotherapy sessions were performed on 21 patients, aged 4-46 years, 15 females and 6 males. Fourteen patients were treated for painful extremity lesions, while five others with face and neck lesions and two with giant chest malformations had treatment for esthetic reasons. All patients had a pre-procedure magnetic resonance imaging (MRI) study. In all patients, 96% ethanol was used as the sclerosant by direct injection using general anesthesia. A minimum of 1-year clinical follow-up was performed. Follow-up imaging studies were performed if clinically indicated. Results: 17 patients showed complete or partial symptomatic improvement after one to nine therapeutic sessions. Four patients with lower extremity lesions continue to suffer from pain and they are considered as a treatment failure. Complications were encountered in five patients, including acute pulmonary hypertension with cardiovascular collapse, pulmonary embolus, skin ulcers (two) and skin blisters. All patients fully recovered. Conclusion: sclerotherapy with 96% ethanol for venous malformations was found to be effective for symptomatic improvement, but serious complications can occur.

  10. Ethanol sclerotherapy of peripheral venous malformations

    International Nuclear Information System (INIS)

    Rimon, U.; Garniek, A.; Galili, Y.; Golan, G.; Bensaid, P.; Morag, B.

    2004-01-01

    Background: venous malformations are congenital lesions that can cause pain, decreased range of movement, compression on adjacent structures, bleeding, consumptive coagulopathy and cosmetic deformity. Sclerotherapy alone or combined with surgical excision is the accepted treatment in symptomatic malformations after failed treatment attempts with tailored compression garments. Objectives: to report our experience with percutaneous sclerotherapy of peripheral venous malformations with ethanol 96%. Patients and methods: 41 sclerotherapy sessions were performed on 21 patients, aged 4-46 years, 15 females and 6 males. Fourteen patients were treated for painful extremity lesions, while five others with face and neck lesions and two with giant chest malformations had treatment for esthetic reasons. All patients had a pre-procedure magnetic resonance imaging (MRI) study. In all patients, 96% ethanol was used as the sclerosant by direct injection using general anesthesia. A minimum of 1-year clinical follow-up was performed. Follow-up imaging studies were performed if clinically indicated. Results: 17 patients showed complete or partial symptomatic improvement after one to nine therapeutic sessions. Four patients with lower extremity lesions continue to suffer from pain and they are considered as a treatment failure. Complications were encountered in five patients, including acute pulmonary hypertension with cardiovascular collapse, pulmonary embolus, skin ulcers (two) and skin blisters. All patients fully recovered. Conclusion: sclerotherapy with 96% ethanol for venous malformations was found to be effective for symptomatic improvement, but serious complications can occur

  11. Subdural hematoma from a cavernous malformation.

    Science.gov (United States)

    Schmitt, Anne J; Mitha, Alim P; Germain, Rasha; Eschbacher, Jennifer; Spetzler, Robert F

    2014-01-01

    To present a case of a cavernous malformation presenting with a subdural hematoma. A 27-year-old woman was admitted with progressively worsening headache, vomiting, weakness, and word-finding difficulties 1 week after she was discharged from an outside hospital, where she was managed conservatively for a presumed traumatic subdural hematoma. Computed tomography revealed an enlarging subacute left hemispheric subdural hematoma for which she underwent drill craniostomy. Postprocedural magnetic resonance imaging showed a posterior left temporal lobe mass consistent with a cavernous malformation juxtaposed with the subdural hematoma. Craniotomy for resection of the lesion was performed. She had an uncomplicated postoperative course and experienced a good recovery. The signs and symptoms, diagnostic imaging, and intraoperative findings suggest that the subdural hematoma was caused by extralesional hemorrhage of the cavernous malformation, which is a rare finding associated with these malformations. The clinical course, radiologic, and intraoperative findings suggest that the subdural hemorrhage was caused by extralesional hemorrhage of the cavernous malformation. Copyright © 2014 Elsevier Inc. All rights reserved.

  12. Imaging of head and neck venous malformations

    International Nuclear Information System (INIS)

    Flis, Christine M.; Connor, Stephen E.

    2005-01-01

    Venous malformations (VMs) are non proliferative lesions that consist of dysplastic venous channels. The aim of imaging is to characterise the lesion and define its anatomic extent. We will describe the plain film, ultrasound (US) (including colour and duplex Doppler), computed tomography (CT), magnetic resonance imaging (MRI), conventional angiographic and direct phlebographic appearances of venous malformations. They will be illustrated at a number of head and neck locations, including orbit, oral cavity, superficial and deep facial space, supraglottic and intramuscular. An understanding of the classification of such vascular anomalies is required to define the correct therapeutic procedure to employ. Image-guided sclerotherapy alone or in combination with surgery is now the first line treatment option in many cases of head and neck venous malformations, so the radiologist is now an integral part of the multidisciplinary management team. (orig.)

  13. Meningitis after cochlear implantation in Mondini malformation.

    Science.gov (United States)

    Page, E L; Eby, T L

    1997-01-01

    Although the potential for CSF leakage and subsequent meningitis after cochlear implantation in the malformed cochlea has been recognized, this complication has not been previously reported. We report a case of CSF otorhinorrhea and meningitis after minor head trauma developing 2 years after cochlear implantation in a child with Mondini malformation. Leakage of CSF was identified from the cochleostomy around the electrode of the implant, and this leak was sealed with a temporalis fascia and muscle plug. Although this complication appears to be rare, care must be taken to seal the cochleostomy in children with inner ear malformations at the initial surgery, and any episode of meningitis after surgery must be thoroughly investigated to rule out CSF leakage from the labyrinth.

  14. [Diagnosis and management of Mondini malformation].

    Science.gov (United States)

    Yang, W; Fang, Y; Yang, S

    1997-02-01

    Owing to the development of imaging technology and audiology, some of the sensorineural hearing loss cases that were previcusly considered to be of unknown cause have been found to be inner ear malformation. Five cases of Mondini malformation are reviewed in this paper. CSF otorhinorrhea occurred in four cases, Klippel-Feil syndrome in three, and concurrent otosclerosis in one patient. In discussion, the authors point out that: 1) CT scanning is an supplement to audiologic tests for such patients; 2) perilymph fistula in Mondini malformation is often found at the oval window and its vicinity, the foot plate and the round window; 3) the fistula can be treated by plugging with fascial tissue via tympanoplastic approach with endaural incision. The mucosa around the fistula should be stripped away and the plugging tissue should be of dumb-bell shape.

  15. Interventional treatment of pulmonary arteriovenous malformations

    DEFF Research Database (Denmark)

    Andersen, Poul Erik; Kjeldsen, Anette Drøhse

    2010-01-01

    Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high...... risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries...... the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenation of the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT....

  16. Chronic effects of therapeutic irradiation for localized prostatic carcinoma on anorectal function

    International Nuclear Information System (INIS)

    Yeoh, Eric E.K.; Botten, Rochelle; Russo, Antonietta; McGowan, Roz; Fraser, Robert; Roos, Daniel; Penniment, Michael; Borg, Martin; Sun Weiming

    2000-01-01

    Purpose: To evaluate prospectively the prevalence and pathophysiology of anorectal dysfunction following radiation therapy (RTH) for localized carcinoma of the prostate. Methods and Materials: The following parameters of anorectal function were evaluated in each of 35 patients (aged 55-82 years) with localized prostatic carcinoma treated with RTH either to a dose of 55 Gy/20 fractions/4 weeks (18 patients) or 64 Gy/32 fractions/6.5 weeks (17 patients), before RTH and 4-6 weeks and at a mean (± SD) of 1.4 (± 0.2) years after its completion: (1) anorectal symptoms (questionnaire), (2) anorectal pressures at rest and in response to voluntary squeeze and increases in intra-abdominal pressure (multiport anorectal manometry), (3) rectal sensation (balloon distension) and (4) anal sphincteric morphology (endoanal ultrasound). Results: All but 1 patient completed three series of measurements. RTH had no effect on anal sphincteric morphology. The increase in frequency of defecation and fecal urgency and incontinence scores previously reported in the patients 4-6 weeks after RTH were sustained 1 year later (p < 0.001, p < 0.001, and p < 0.05, cf. baseline, respectively). At this time, 56% (19 of 34), 50% (17 of 34) and 26% (9 of 34) of the patients had increased frequency of defecation, fecal urgency, and incontinence, respectively. Decreases in anal sphincteric pressures at rest and in response to voluntary squeeze recorded in the patients 4-6 weeks after RTH were not sustained 1 year later but the volumes of rectal distension associated with perception of the stimulus and desire to defecate were lower compared with baseline volumes (p < 0.01 and p < 0.05, respectively), reflecting heightened rectal sensitivity in the patients. There was no difference in measurements between the two radiation dose regimens. Univariate logistical regression analysis was performed on patients who had experienced increased symptom scores or decreases in recorded motor and sensory manometric

  17. Long-term anorectal, urinary and sexual dysfunction causing distress after radiotherapy for anal cancer

    DEFF Research Database (Denmark)

    Sunesen, K G; Nørgaard, M; Lundby, L

    2015-01-01

    . For each symptom we assessed frequency and severity and the level of symptom-induced distress (no, little, moderate or great distress). RESULTS: Of 94 eligible patients, 84 (89%) returned the completed questionnaire at a median of 33 months after radiotherapy. Incontinence for solid stools, liquid stools...... function. CONCLUSION: Distressing long-term anorectal and sexual dysfunction was common after radiotherapy for anal cancer, and morbidity due to urinary dysfunction was moderate....

  18. Pathophysiology and Natural History of Anorectal Sequelae Following Radiation Therapy for Carcinoma of the Prostate

    International Nuclear Information System (INIS)

    Yeoh, Eric K.; Holloway, Richard H.; Fraser, Robert J.; Botten, Rochelle J.; Di Matteo, Addolorata C.; Butters, Julie

    2012-01-01

    Purpose: To characterize the prevalence, pathophysiology, and natural history of chronic radiation proctitis 5 years following radiation therapy (RT) for localized carcinoma of the prostate. Methods and Materials: Studies were performed in 34 patients (median age 68 years; range 54-79) previously randomly assigned to either 64 Gy in 32 fractions over 6.4 weeks or 55 Gy in 20 fractions over 4 weeks RT schedule using 2- and later 3-dimensional treatment technique for localized prostate carcinoma. Each patient underwent evaluations of (1) gastrointestinal (GI) symptoms (Modified Late Effects in Normal Tissues Subjective, Objective, Management and Analytic scales including effect on activities of daily living [ADLs]); (2) anorectal motor and sensory function (manometry and graded balloon distension); and (3) anal sphincteric morphology (endoanal ultrasound) before RT, at 1 month, and annually for 5 years after its completion. Results: Total GI symptom scores increased after RT and remained above baseline levels at 5 years and were associated with reductions in (1) basal anal pressures, (2) responses to squeeze and increased intra-abdominal pressure, (3) rectal compliance and (4) rectal volumes of sensory perception. Anal sphincter morphology was unchanged. At 5 years, 44% and 21% of patients reported urgency of defecation and rectal bleeding, respectively, and 48% impairment of ADLs. GI symptom scores and parameters of anorectal function and anal sphincter morphology did not differ between the 2 RT schedules or treatment techniques. Conclusions: Five years after RT for prostate carcinoma, anorectal symptoms continue to have a significant impact on ADLs of almost 50% of patients. These symptoms are associated with anorectal dysfunction independent of the RT schedules or treatment techniques reported here.

  19. Pathophysiology and Natural History of Anorectal Sequelae Following Radiation Therapy for Carcinoma of the Prostate

    Energy Technology Data Exchange (ETDEWEB)

    Yeoh, Eric K., E-mail: eric.yeoh@health.sa.gov.au [Department of Radiation Oncology, Royal Adelaide Hospital, Adelaide (Australia); Discipline of Medicine, University of Adelaide, Adelaide (Australia); Holloway, Richard H. [Discipline of Medicine, University of Adelaide, Adelaide (Australia); Department of Gastroenterology, Royal Adelaide Hospital, Adelaide (Australia); Fraser, Robert J. [Discipline of Medicine, University of Adelaide, Adelaide (Australia); Gastrointestinal Investigation Unit, Repatriation General Hospital, Adelaide (Australia); Botten, Rochelle J.; Di Matteo, Addolorata C.; Butters, Julie [Department of Radiation Oncology, Royal Adelaide Hospital, Adelaide (Australia)

    2012-12-01

    Purpose: To characterize the prevalence, pathophysiology, and natural history of chronic radiation proctitis 5 years following radiation therapy (RT) for localized carcinoma of the prostate. Methods and Materials: Studies were performed in 34 patients (median age 68 years; range 54-79) previously randomly assigned to either 64 Gy in 32 fractions over 6.4 weeks or 55 Gy in 20 fractions over 4 weeks RT schedule using 2- and later 3-dimensional treatment technique for localized prostate carcinoma. Each patient underwent evaluations of (1) gastrointestinal (GI) symptoms (Modified Late Effects in Normal Tissues Subjective, Objective, Management and Analytic scales including effect on activities of daily living [ADLs]); (2) anorectal motor and sensory function (manometry and graded balloon distension); and (3) anal sphincteric morphology (endoanal ultrasound) before RT, at 1 month, and annually for 5 years after its completion. Results: Total GI symptom scores increased after RT and remained above baseline levels at 5 years and were associated with reductions in (1) basal anal pressures, (2) responses to squeeze and increased intra-abdominal pressure, (3) rectal compliance and (4) rectal volumes of sensory perception. Anal sphincter morphology was unchanged. At 5 years, 44% and 21% of patients reported urgency of defecation and rectal bleeding, respectively, and 48% impairment of ADLs. GI symptom scores and parameters of anorectal function and anal sphincter morphology did not differ between the 2 RT schedules or treatment techniques. Conclusions: Five years after RT for prostate carcinoma, anorectal symptoms continue to have a significant impact on ADLs of almost 50% of patients. These symptoms are associated with anorectal dysfunction independent of the RT schedules or treatment techniques reported here.

  20. Impact of health legislation on the sale of anorectics in a city in the Amazon region

    OpenAIRE

    Castro,Luana Valéria da Silva; Farias Junior,Gilvo; Teixeira,Francisco Martins; Vieira,José Ricardo dos Santos; Maia,Cristiane do Socorro Ferraz

    2012-01-01

    OBJECTIVES: The International Narcotics Control Board released its 2005 annual report, highlighting the Brazil population as one of the largest consumers of anorectics. In Brazil, the National Health Surveillance Agency issued the resolution RDC 58/2007 in order to control the prescription and sale of such drugs. In Belém, the biggest city in the Brazilian Amazon region, this resolution came into force in 2008, leading to inspections of drugstores and magistral pharmacies. The aim of this wor...

  1. Studies on the anorectic effect of N-acylphosphatidylethanolamine and phosphatidylethanolamine in mice

    DEFF Research Database (Denmark)

    Wellner, Niels; Tsuboi, Kazuhito; Madsen, Andreas Nygaard

    2011-01-01

    N-acyl-phosphatidylethanolamine is a precursor phospholipid for anandamide, oleoylethanolamide, and other N-acylethanolamines, and it may in itself have biological functions in cell membranes. Recently, N-palmitoyl-phosphatidylethanolamine (NAPE) has been reported to function as an anorectic horm...... phosphatidylethanolamine and the related phospholipids phosphatidylcholine and phosphatidic acid were also tested. All compounds except one were found to inhibit food intake, raising the possibility that the effect of NAPE is non-specific....

  2. Restorative resection of radiation rectovaginal fistula can better relieve anorectal symptoms than colostomy only.

    Science.gov (United States)

    Zhong, Qinghua; Yuan, Zixu; Ma, Tenghui; Wang, Huaiming; Qin, Qiyuan; Chu, Lili; Wang, Jianping; Wang, Lei

    2017-02-02

    Radiation-induced rectovaginal fistula (RVF) is a severe and difficult complication after pelvic malignancy radiation. This study was to retrospectively compare the outcomes of restorative resection and colostomy only in remission of anorectal symptoms. We enrolled a cohort of 26 consecutive cases who developed RVF after pelvic radiation. Two main procedures for these patients in our institution were used: one was restorative resection and pull-through coloanal anastomosis with a prophylactic colostomy, and another was a simple colostomy without resection. Thus, we divided these patients into these two groups. Anorectal symptoms including rectal pain, bleeding, tenesmus, and perineal mucous discharge were recorded and scored prior to surgery and at postoperative multiple time points. The baseline was similar among the two groups. All patients acquired good efficacy with improved symptoms at postoperative 6, 12, and 24 months, when compared to baseline. In addition, the resection group showed a better remission of tenesmus (6 months 33.3 vs 0%; 12 months 66.7 vs 16.7%) and perineal mucous discharge (6 months 88.9 vs 6.7%; 12 months 77.8 vs 15.4%; 24 months 85.7 vs 25.0%). Furthermore, three (30%) patients in the resection group successfully reversed stomas while no stoma was closed in the simple colostomy group. Both restorative resection procedure and colostomy only can improve anorectal symptoms of radiation-induced RVF, but restorative resection can completely relieve anorectal symptoms in selected cases.

  3. Anorectal manometry with and without ketamine for evaluation of defecation disorders in children.

    Science.gov (United States)

    Keshtgar, A S; Choudhry, M S; Kufeji, D; Ward, H C; Clayden, G S

    2015-03-01

    Anorectal manometry (ARCM) provides valuable information in children with chronic constipation and fecal incontinence but may not be tolerated in the awake child. This study aimed to evaluate the effect of ketamine anesthesia on the assessment of anorectal function by manometry and to evaluate defecation dynamics and anal sphincter resting pressure in the context of pathophysiology of chronic functional (idiopathic) constipation and soiling in children. This was a prospective study of children who were investigated for symptoms of chronic constipation and soiling between April 2001 and April 2004. We studied 52 consecutive children who had awake ARCM, biofeedback training and endosonography (awake group) and 64 children who had ketamine anesthesia for ARCM and endosonography (ketamine group). We age matched 31 children who had awake anorectal studies with 27 who had ketamine anesthesia. The children in awake and ketamine groups were comparable for age, duration of bowel symptoms and duration of laxative treatments. ARCM profile was comparable between the awake and the ketamine groups with regard to anal sphincter resting pressure, rectal capacity, amplitude of rectal contractions, frequency of rectal and IAS contractions and functional length of anal canal. Of 52 children who had awake ARCM, dyssynergia of the EAS muscles was observed in 22 (42%) and median squeeze pressure was 87mm Hg (range 25-134). The anal sphincter resting pressure was non-obstructive and comparable to healthy normal children. Rectoanal inhibitory reflex was seen in all children excluding diagnosis of Hirschsprung disease. Ketamine anesthesia does not affect quantitative or qualitative measurements of autonomic anorectal function and can be used reliably in children who will not tolerate the manometry while awake. Paradoxical contraction of the EAS can only be evaluated in the awake children and should be investigated further as the underlying cause of obstructive defecation in patients with

  4. Neurodevelopmental malformations of the cerebellar vermis in genetically engineered rats

    Science.gov (United States)

    The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformati...

  5. Surgical excision of a cerebral arteriovenous malformation in a dog

    International Nuclear Information System (INIS)

    Thomas, W.B.; Schueler, R.O.; Kornegay, J.N.

    1995-01-01

    A 7-year-old dog was presented with seizures and epistaxis. Computed tomography showed a contrast-enhancing lesion in the cerebrum. An arteriovenous malformation was identified at surgery and resected. A discussion of intracranial arteriovenous malformation is presented

  6. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    Energy Technology Data Exchange (ETDEWEB)

    Cornelis, F., E-mail: francoiscornelis@hotmail.com [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)

    2013-06-15

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  7. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    International Nuclear Information System (INIS)

    Cornelis, F.; Neuville, A.; Labrèze, C.; Kind, M.; Bui, B.; Midy, D.; Palussière, J.; Grenier, N.

    2013-01-01

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

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

    International Nuclear Information System (INIS)

    Takano, Masahiro

    2007-01-01

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

  9. Management of anorectal melanoma: report of 17 cases and literature review.

    Science.gov (United States)

    Belbaraka, Rhizlane; Elharroudi, Tijani; Ismaili, Nabil; Fetohi, Mohammed; Tijami, Fouad; Jalil, Abdelouahed; Errihani, Hassan

    2012-03-01

    Primary anorectal melanoma is a rare and aggressive disease. It accounts for 0.5% of all rectal tumors. They are very agressive tumors with poor prognosis. The aim of this study is to report the clinical and evolutionary profile and therapeutical approach of these tumors. A retrospective study of 17 patients with anorectal melanoma diagnosed between January 1998 and December 2007 was performed. The signs and symptoms, diagnostic study, and surgical and medical treatments were analyzed. The average age was 58 years. Sex ratio was 12 men per five women. Patients had symptoms present for an average of 6 months. The most common symptom was rectal bleeding. According to Slingluff classification, five patients had stage I (localized tumor), four cases had stage II (regional nodes metastasis), and eight cases had stage III (distant metastasis). Seven patients have radical surgery. Only two patients received adjuvant immunotherapy. Eight patients received palliative chemotherapy based on dacarbazine or cisplatinum. The median survival was 8 months. Prognosis of anorectal melanoma is still very poor. However, some patients when treated by radical resection may experience long-term survival. The use of adjuvant immunotherapy needs large collaborative studies in view of the rarity of the tumor.

  10. Amphetamine-like effects of anorectics and related compounds in pigeons.

    Science.gov (United States)

    Evans, S M; Johanson, C E

    1987-06-01

    Four pigeons were trained to discriminate injections of d-amphetamine (AMPH; 2.0 mg/kg i.m.) from saline with responding maintained under a fixed-ratio 30 schedule of food delivery. When drugs used therapeutically as anorectics were tested, they consistently produced greater than 80% of AMPH-appropriate responding. The order of potency for substituting for AMPH was: mazindol greater than AMPH = phenmetrazine = phentermine greater than chlorphentermine = phendimetrazine = diethylpropion greater than clortermine = mefenorex. Other anorectics such as phenylpropanolamine (0.3-30.0 mg/kg) and fenfluramine (1.0-17.0 mg/kg) only substituted partially for AMPH whereas benzphetamine (1.0-100.0 mg/kg) resulted primarily in saline-appropriate responding. Compounds related to AMPH in biochemical mechanism of action or psychomotor stimulant activity also were tested. Methylphenidate (0.1-3.0 mg/kg), piribedil (0.3-17.0 mg/kg) and nisoxetine (0.03-1.0 mg/kg) shared discriminative stimulus properties with AMPH whereas bupropion (1.0-30.0 mg/kg) and propylhexedrine (10.0-100.0 mg/kg) substituted for AMPH in two of three pigeons tested. In contrast, caffeine and fenetylline resulted principally in saline-appropriate responding. Compounds from pharmacological classes not related to AMPH, such as morphine, diazepam and phencyclidine, failed to substitute for AMPH. In general, compounds with anorectic and/or stimulant properties shared discriminative stimulus properties with AMPH.

  11. Perinatal outcome of obvious congenital malformation as seen at the ...

    African Journals Online (AJOL)

    Gastrointestinal, central nervous and musculo-skeletal system malformations were the commonest seen with individual incidences of 3.9, 3.5 and 2.1 per 1000 total births, respectively. Unclassified congenital malformations had the highest case fatality while central nervous system malformations constituted the commonest ...

  12. Multislice spiral computed tomography imaging in congenital inner ear malformations.

    Science.gov (United States)

    Ma, Hui; Han, Ping; Liang, Bo; Tian, Zhi-liang; Lei, Zi-qiao; Kong, Wei-jia; Feng, Gan-sheng

    2008-01-01

    The purpose of this study is to evaluate the usefulness of multislice spiral computed tomography (CT) in the diagnosis of congenital inner ear malformations. Forty-four patients with sensorineural hearing loss were examined on a Somatom Sensation 16 (Siemens) CT scanner. The 3-dimensional reconstructions and multiplanar reformation (MPR) were performed using the volume-rendering technique (VRT) on the workstation. Of the 44 patients examined for this study, 25 patients were found to be normal and 19 patients (36 ears) were diagnosed with congenital inner ear malformations. Of the malformations, the axial, MPR, and VRT images can all display the site and degree in 33 of the ears. Volume-rendering technique images were superior to the axial images in displaying the malformations in 3 ears with small lateral semicircular canal malformations. The common malformations were Michel deformity (1 ear), common cavity deformity (3 ears), incomplete partition I (3 ears), incomplete partition II (Mondini deformity) (5 ears), vestibular and semicircular canal malformations (14 ears), enlarged vestibular aqueduct (16 ears, 6 of which had other malformations), and internal auditory canal malformation (8 ears, all accompanied by other malformations). Multislice spiral CT allows a comprehensively assessment of various congenital inner ear malformations through high-quality MPR and VRT reconstructions. Volume-rendering technique images can display the site and degree of the malformation 3-dimensionally and intuitionisticly. This is very useful to the cochlear implantation.

  13. Quality of life, anorectal and sexual functions after preoperative radiotherapy for rectal cancer: Report of a randomised trial

    International Nuclear Information System (INIS)

    Pietrzak, Lucyna; Bujko, Krzysztof; Nowacki, Marek P.; Kepka, Lucyna; Oledzki, Janusz; Rutkowski, Andrzej; Szmeja, Jacek; Kladny, Jozef; Dymecki, Dariusz; Wieczorek, Andrzej; Pawlak, Mariusz; Lesniak, Tadeusz; Kowalska, Teresa; Richter, Piotr

    2007-01-01

    Background and purpose: Patients (N = 316) with resectable cT3-4 low-lying and mid-rectal cancer were randomised to receive either preoperative 5 x 5 Gy irradiation with subsequent surgery performed within 7 days or chemoradiation (50.4, 1.8 Gy per fraction plus boluses of 5-fluorouracil and leucovorin) followed by surgery after 4-6 weeks. No differences were found in sphincter preservation, survival, local control and late complications. Early complications were less frequent in the short-course group. The aim of this report is to find out whether large doses per fraction of short-course schedule result in more severe anorectal and sexual dysfunction and quality of life (QoL) impairment. Materials and method: Patients who were free of disease were asked to answer the QLQ-C30 and those without stoma were, additionally, asked to fill in a questionnaire of anorectal (19 items) and sexual function (1 item). Results: Two hundred and twenty-two patients (86% response rate) completed the QLQ-C30 and 118 (86% response rate) the anorectal-sexual function questionnaire. The median time from surgery to filling in the QLQ-C30 questionnaire was 12 months, and to filling in the anorectal-sexual function questionnaire - 13 months. We did not find significant differences between the randomised groups regarding QoL and the anorectal and sexual functions. Approximately two-thirds of patients had anorectal function impairment. Approximately 20% of patients stated that this considerably influenced their QoL. Conclusions: QoL and the anorectal and sexual functioning did not differ in patients receiving short-course radiotherapy, as compared to those receiving chemoradiation

  14. Efficacy and safety of OK-432 immunotherapy of lymphatic malformations.

    Science.gov (United States)

    Smith, Mark C; Zimmerman, M Bridget; Burke, Diane K; Bauman, Nancy M; Sato, Yutaka; Smith, Richard J H

    2009-01-01

    To determine the efficacy and safety of the immunostimulant OK-432 (Picibanil) as a treatment option in the management of children with cervicofacial lymphatic malformations. A prospective, randomized, multi-institutional phase II clinical trial at 27 U.S. academic medical centers. 182 patients with lymphatic malformations (LM) were enrolled between January 1998 and November 2004. Of the 151 patients with complete case report forms, 117 patients were randomized into immediate or delayed treatment groups; 34 patients were nonrandomized and assigned to the open-label group. Treatment consisted of a four-dose intralesional injection series of OK-432 at eight-week intervals. Patients randomized into the delayed treatment group served as observational controls for spontaneous regression. Response to therapy was measured radiographically by quantitating change in lesion size and graded as complete (90%-100%), substantial (60%-89%), intermediate (20%-59%), or none (<20%). Of 117 patients randomized with intent-to-treat, 68% demonstrated a complete or substantial response to OK-432 immunotherapy. Response data for macrocystic LM were higher, with a complete or substantial response in 94% of patients; 63% of patients with mixed macrocystic-microcystic LM responded to treatment; no patients with microcystic LM responded to treatment. Spontaneous resolution occurred in less than 2% of patients. Median follow-up of 2.9 years demonstrated a 9% recurrence rate. Major adverse effects related to therapy occurred in 11 patients. As compared to historical surgical data on LM, OK-432 immunotherapy is more effective (P < .001) and has a lower morbidity (P < .001). OK-432 immunotherapy is an effective, safe, and simple treatment option for the management of macrocystic cervicofacial LM. ClinicalTrials.gov Identifier: NCT00010452.

  15. Lymphatic malformations: a proposed management algorithm.

    LENUS (Irish Health Repository)

    Oosthuizen, J C

    2012-02-01

    OBJECTIVE: The aim of this study was to develop a management algorithm for cervicofacial lymphatic malformations, based on the authors\\' experience in managing these lesions as well as current literature on the subject. STUDY DESIGN AND METHODS: A retrospective medical record review of all the patients treated for lymphatic malformations at our institution during a 10-year period (1998-2008) was performed. DATA COLLECTED: age at diagnosis, location and type of lesion, radiologic investigation performed, presenting symptoms, treatment modality used, complications and results achieved. RESULTS: 14 patients were identified. Eight (57%) male and six (43%) female. There was an equal distribution between the left and right sides. The majority (71%) of cases were diagnosed within the first year of life. The majority of lesions were located in the suprahyoid region. The predominant reason for referral was an asymptomatic mass in 7 cases (50%) followed by airway compromise (36%) and dysphagia (14%). Management options employed included: observation, OK-432 injection, surgical excision and laser therapy. In 5 cases (36%) a combination of these were used. CONCLUSION: Historically surgical excision has been the management option of choice for lymphatic malformations. However due to the morbidity and high complication rate associated this is increasingly being questioned. Recent advances in sclerotherapy e.g. OK-432 injection have also shown significant promise. Based on experience in managing these lesions as well as current literature the authors of this paper have developed an algorithm for the management of cervicofacial lymphatic malformations.

  16. Cystic malformations of the neck in children

    Energy Technology Data Exchange (ETDEWEB)

    Koch, Bernadette L. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States)

    2005-05-01

    The most common cystic malformations of the neck are the result of abnormal embryogenesis involving the thyroglossal duct (TGD), lymphatic primordia and the branchial apparatus. When the basic embryology of these structures is considered, a reasonable differential diagnosis - and in some cases a definitive diagnosis - can be achieved based on the location and the imaging characteristics of the cystic mass. (orig.)

  17. Cystic malformations of the neck in children

    International Nuclear Information System (INIS)

    Koch, Bernadette L.

    2005-01-01

    The most common cystic malformations of the neck are the result of abnormal embryogenesis involving the thyroglossal duct (TGD), lymphatic primordia and the branchial apparatus. When the basic embryology of these structures is considered, a reasonable differential diagnosis - and in some cases a definitive diagnosis - can be achieved based on the location and the imaging characteristics of the cystic mass. (orig.)

  18. CT imaging of cervical spinal vascular malformation

    International Nuclear Information System (INIS)

    Ueda, Takashi; Iwamoto, Munehisa; Miyamoto, Etsuo; Kuriyama, Tsuyoshi; Hayama, Tsuneto

    1982-01-01

    The patient had a history of the onset of motor paralysis of the right upper and lower extremities. Eight years later, numbness of the right upper extremity and a severe neck pain developed, and transverse paralysis of the lower extremities appeared in about 10 hours. CT demonstrated the presence of spinal vascular abnormality. Angiography suggested arteriovenous malformation of glomus type. (Chiba, N.)

  19. Vascular permeability in cerebral cavernous malformations

    DEFF Research Database (Denmark)

    Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao

    2015-01-01

    Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observ...

  20. Congenital malformation of inner ear, single cavity

    International Nuclear Information System (INIS)

    Torres Pazmino, Julio Cesar; Marrugo Pardo, Gilberto Eduardo

    2010-01-01

    Congenital malformations of the inner ear are rare conditions, but their detection requires high diagnostic accuracy. In this report we describe the case of a patient with single or common cavity, discuss the corresponding radiological images, describe the treatment of this patient with a cochlear implant, and review the classification and differential diagnosis of the other anomalies of the inner ear.

  1. Clinical review of inner ear malformation

    International Nuclear Information System (INIS)

    Kokai, Hiromi; Oohashi, Masami; Ishikawa, Kazuo; Harada, Kouji; Hiratsuka, Hitoshi; Ogasawara, Makoto; Miyashita, Souji; Terayama, Yoshihiko

    2003-01-01

    We had 126 patients with inner ear malformation diagnosed with temporal bone computed tomography (CT) scans at Azabu Triology Hospital between 1996 and 2002. We classified cases of inner ear malformation according to Jackler et al. The incidence of inner ear malformation in our series was as follows; labyrinthine anomalies 61% (isolated lateral semicircular canal dysplasia 56%, compound semicircular canal dysplasia 4%, semicircular canal aplasia 1%), cochlear anomalies 24%, enlargement of the vestibular aqueduct 12%, narrow internal auditory canal 2%, complete labyrinthine aplasia 1%, enlargement of the cochlear aqueduct 0%. The most frequent anomaly was isolated lateral semicircular canal dysplasia. We did not detect any significant clinical features in this anomaly. There were 2 patients with cochlear anomalies who had past histories of meningitis. Some patients with enlargement of the vestibular aqueduct had frequent attacks of fluctuating hearing. Clinically it is important to detect patients with inner ear malformation such as cochlear anomalies and enlargement of the vestibular aqueduct usually accompanied by congenital sensorineural hearing loss. For patients with congenital sensorineural hearing loss, we recommend temporal bone CT scan. (author)

  2. Congenital lung malformations: correlation between prenatal and ...

    African Journals Online (AJOL)

    Aim: Congenital lung malformations are a common finding during prenatal ultrasonography (US). Investigations were completed by means of prenatal MRI and postnatal computed tomographic (CT) scan. The purpose of this study was to compare these prenatal findings with postnatal findings and pathological findings after ...

  3. Congenital spinal malformations; Kongenitale spinale Malformationen

    Energy Technology Data Exchange (ETDEWEB)

    Ertl-Wagner, B.B.; Reiser, M.F. [Klinikum Grosshadern, Ludwig-Maximilians-Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie

    2001-12-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [German] Kongenitale spinale Malformationen stellen eine komplexe Gruppe an Stoerungen dar, deren Genese sich am einfachsten aus der Embryologie heraus erklaeren laesst. Bei der klinisch-radiologischen Begutachtung ist zunaechst ihre korrekte Klassifikation im Rahmen der Erstdiagnose wichtig. Im weiteren Verlauf ist es jedoch zudem entscheidend, moegliche Komplikationen wie beispielsweise eine Hydromyelie oder ein Wiederanheften des Myelons nach Operation einer Spina bifida aperta zu erkennen. Zudem sollte bei der Diagnosestellung einer kongenitalen spinalen Malformation immer auch auf assoziierte Fehlbildungen, wie z.B. die Diastematomyelie oder das intraspinale Lipom bei der Spina bifida aperta, sowie auf eine moegliche syndromale Einordnung wie beispielsweise beim OEIS-oder VACTERL-Syndrom geachtet werden. (orig.)

  4. Congenital Malformations in River Buffalo (Bubalus bubalis

    Directory of Open Access Journals (Sweden)

    Sara Albarella

    2017-02-01

    Full Text Available The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.

  5. Congenital malformations in paediatric and neurosurgical practices ...

    African Journals Online (AJOL)

    Congenital malformations in paediatric and neurosurgical practices: problems and pattern (A preliminary report) ... Open Access DOWNLOAD FULL TEXT ... over a 5-year period (1998 to 2002) with congenital anomalies to the Paediatric Surgery and Neurosurgery units of the University Teaching Hospital, Ilorin, Nigeria.

  6. Challenges of congenital malformations: an African perspective ...

    African Journals Online (AJOL)

    Background: Congenital malformations are defects of morphogenesis of organs or body regions identifiable during the intrauterine life or after birth. The etiological factors proposed have varied in history based on prevailing understanding, culture, and religion. Worldwide historically, the role of the supernatural had been in ...

  7. Sex and congenital malformations: An international perspective

    NARCIS (Netherlands)

    Lisi, A.; Botto, L.D.; Rittler, M.; Castilla, E.; Botting, B.; De Walle, H.; Erickson, J.D.; Gatt, M.; De Vigan, C.; Irgens, L.; Johnson, W.; Lancaster, P.; Merlob, P.; Mutchinick, O.M.; Ritvanen, A.; Robert, 28033; Scarano, G.; Stoll, C.; Mastroiacovo, P.

    2005-01-01

    The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or

  8. Sex and congenital malformations : An international perspective

    NARCIS (Netherlands)

    Lisi, A; Botto, LD; Rittler, M; Castilla, E; Bianchi, F; Botting, B; De Walle, H; Erickson, JD; Gatt, M; De Vigan, C; Irgens, L; Johnson, W; Lancaster, P; Merlob, P; Mutchinick, OM; Ritvanen, A; Robert, E; Scarano, G; Stoll, C; Mastroiacovo, P

    2005-01-01

    The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or

  9. Lamb congenital lymphatic malformation - a case report

    Directory of Open Access Journals (Sweden)

    Neria Santos

    2014-01-01

    Full Text Available Lymphatic malformations have been rarely reported in literature either in humans or in animals. However, in recent years, concern about these malformations in humans has increased. A five-month-old Rasa Aragonesa male lamb was received at the Ovine Clinical Service of the Veterinary Faculty of Zaragoza, Spain, with a history of cervical protuberances coming from birth. The lamb showed three round swollen lumps (5–12 cm in diameter parallel to the trachea on the left side of the neck. Clinical examination, haematology, ultrasonography, fluid examination and histopathology were performed. No abnormalities were found in blood samples and ultrasound confirmed a multicystic lesion with internal separations. Histological evaluation of the tissue revealed dilated lymphatic vessels and channels in the dermis and hypodermis; some lymphatic vessels were filled with amorphous proteinaceous material and occasional lymphocytes and macrophages. These protuberances were diagnosed as congenital lymphatic malformations. Most of the gross and microscopical lesions were very similar to those described in humans. To the authors’ knowledge, this is the first time that a congenital lymphatic malformation is described in sheep.

  10. CT imaging of cervical spinal vascular malformation

    Energy Technology Data Exchange (ETDEWEB)

    Ueda, Takashi; Iwamoto, Munehisa; Miyamoto, Etsuo; Kuriyama, Tsuyoshi; Hayama, Tsuneto [Wakayama Red Cross Hospital, Wakayama (Japan)

    1982-05-01

    The patient had a history of the onset of motor paralysis of the right upper and lower extremities. Eight years later, numbness of the right upper extremity and a severe neck pain developed, and transverse paralysis of the lower extremities appeared in about 10 hours. CT demonstrated the presence of spinal vascular abnormality. Angiography suggested arteriovenous malformation of glomus type.

  11. Congenital Malformations in River Buffalo (Bubalus bubalis)

    Science.gov (United States)

    Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

    2017-01-01

    Simple Summary Congenital malformations (due to genetic causes) represent a hidden danger for animal production, above all when genetic selection is undertaken for production improvements. These malformations are responsible for economic losses either because they reduce the productivity of the farm, or because their spread in the population would decrease the total productivity of that species/breed. River buffalo is a species of increasing interest all over the world for its production abilities, as proved by the buffalo genome project and the genetic selection plans that are currently performed in different countries. The aim of this review is to provide a general view of different models of congenital malformations in buffalo and their world distribution. This would be useful either for those who performed buffalo genetic selection or for researchers in genetic diseases, which would be an advantage to their studies with respect to the knowledge of gene mutations and interactions in this species. Abstract The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital

  12. Congenital vascular malformations in scintigraphic evaluation

    International Nuclear Information System (INIS)

    Pilecki, Stanisław; Gierach, Marcin; Gierach, Joanna; Świętaszczyk, Cyprian; Junik, Roman; Lasek, Władysław

    2014-01-01

    Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression

  13. A case of pancreatic AV malformation in an elderly man.

    Science.gov (United States)

    Gupta, Vipin; Kedia, Saurabh; Sonika, Ujjwal; Madhusudhan, Kumble Seetharama; Pal, Sujoy; Garg, Pramod

    2018-06-01

    A 60-year-old man presented with recurrent abdominal pain and weight loss for 6 months. Abdominal imaging showed a large vascular lesion in the head and neck of pancreas suggestive of arteriovenous malformation (AV malformation). Endoscopic ultrasound was done which showed features of AV malformation with no evidence of pancreatic malignancy. Surgery was planned for definitive treatment of malformation. Digital subtraction angiography with angioembolization was done prior to surgery to reduce vascularity of the lesion. He recovered after a pylorus preserving pancreaticoduodenectomy. Histopathology of the resected specimen confirmed the pancreatic AV malformation. There has been no recurrence at 2 years of follow-up.

  14. Prognostic factors of congenital diaphragmatic hernia accompanied by cardiovascular malformation.

    Science.gov (United States)

    Takahashi, Shigehiro; Sago, Haruhiko; Kanamori, Yutaka; Hayakawa, Masahiro; Okuyama, Hiroomi; Inamura, Noboru; Fujino, Yuji; Usui, Noriaki; Taguchi, Tomoaki

    2013-08-01

    Congenital diaphragmatic hernia is associated with cardiovascular malformation. Many prognostic factors have been identified for isolated congenital diaphragmatic hernia; however, reports of concurrent congenital diaphragmatic hernia and cardiovascular malformation in infants are limited. This study evaluated congenital diaphragmatic hernia associated with cardiovascular malformation in infants. Factors associated with prognosis for patients were also identified. This retrospective cohort study was based on a Japanese survey of congenital diaphragmatic hernia patients between 2006 and 2010. Frequency and outcome of cardiovascular malformation among infants with congenital diaphragmatic hernia were examined. Severity of congenital diaphragmatic hernia and cardiovascular malformation were compared as predictors of mortality and morbidity. Cardiovascular malformation was identified in 76 (12.3%) of 614 infants with congenital diaphragmatic hernia. Mild cardiovascular malformation was detected in 19 (33.9%) and severe cardiovascular malformation in 37 (66.1%). Their overall survival rate at discharge was 46.4%, and the survival rate without morbidity was 23.2%. Mortality and morbidity at discharge were more strongly associated with severity of cardiovascular malformation (adjusted OR 7.69, 95%CI 1.96-30.27; adjusted OR 7.93, 95%CI 1.76-35.79, respectively) than with severity of congenital diaphragmatic hernia. The prognosis for infants with both congenital diaphragmatic hernia and cardiovascular malformation remains poor. Severity of cardiovascular malformation is a more important predictive factor for mortality and morbidity than severity of congenital diaphragmatic hernia. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

  15. Dynamic MR assessment of the anorectal angle and puborectalis muscle in pediatric patients with anismus: technique and feasibility.

    Science.gov (United States)

    Chu, Winnie C W; Tam, Yuk-him; Lam, Wynnie W M; Ng, Alex W H; Sit, Frances; Yeung, Chung-kwong

    2007-05-01

    To assess the feasibility of dynamic breath-hold MRI for evaluating changes in the anorectal angle and movements of the pelvic-floor musculature (puborectalis) during resting and straining states in pediatric patients presenting with anismus. Six pediatric patients (7-13 years old) with chronic constipation and manometric evidence of anismus were assessed by dynamic breath-hold MRI. Changes in the anorectal angle, the degree of pelvic-floor descent, and the thickness and length of the puborectalis muscles were measured during rest and straining. The findings were compared with those obtained in six age- and sex-matched controls. The children with anismus had a smaller anorectal angle during straining, and the angle decreased from rest to defecation. The puborectalis also became paradoxically shortened and thickened during straining in the anismus group. There were significant differences between the two groups in terms of the change of degree of the anorectal angle, and the thickness and length of the puborectalis muscle during straining. Fast dynamic MRI is feasible for evaluating pelvic-floor movement in pediatric patients. Preliminary results suggest that children with anismus have a smaller anorectal angle and a different puborectalis configuration compared to controls. (c) 2007 Wiley-Liss, Inc.

  16. Intermediality and media change

    OpenAIRE

    2012-01-01

    This book is about intermediality as an approach to analysing and understanding media change. Intermediality and Media Change is critical of technological determinism that characterises 'new media discourse' about the ongoing digitalization, framed as a revolution and creating sharp contrasts between old and new media. Intermediality instead emphasises paying attention to continuities between media of all types and privileges a comparative perspective on technological changes in media over ti...

  17. RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

    Science.gov (United States)

    Flore, Leigh Anne; Leon, Eyby; Maher, Tom A; Milunsky, Jeff M

    2012-06-01

    Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM results from heterozygous mutations in the RASA1 gene. Capillary malformations of the skin are common, and clinical examination alone may not be able to definitively diagnose-or exclude- CM-AVM. We report a family in which the proband was initially referred for a genetic evaluation in the neonatal period because of the presence of a cardiac murmur and minor dysmorphic features. Both he and his mother were noted to have multiple capillary malformations on the face, head, and extremities. Echocardiography revealed dilated head and neck vessels and magnetic resonance imaging and angiography of the brain revealed a large infratentorial arteriovenous fistula, for which he has had two embolization procedures. RASA1 sequence analysis revealed a heterozygous mutation, confirming his diagnosis of CM-AVM. We established targeted mutation analysis for the proband's mother and sister, the latter of whom is a healthy 3-year-old whose only cutaneous finding is a facial capillary malformation. This revealed that the proband's mother is also heterozygous for the RASA1 mutation, but his sister is negative. Consequently, his mother will undergo magnetic resonance imaging and angiography screening for intracranial and spinal fast-flow lesions, while his sister will require no imaging or serial evaluations. Targeted mutation analysis has been offered to additional maternal family members. This case illustrates the benefit of molecular testing in diagnosis and making screening recommendations for families with CM-AVM.

  18. Combined spinal intramedullary arteriovenous malformation and lipomyelomeningocele

    Energy Technology Data Exchange (ETDEWEB)

    Weon, Y.C.; Roh, H.G.; Byun, H.S. [Samsung Medical Center, Sungkyunkwan University School of Medicine, Department of Radiology, Seoul (Korea); Chung, J.I. [Medimoa Hospital, Department of Radiology, Seoul (Korea); Eoh, W. [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea)

    2005-10-01

    Combined spinal arteriovenous malformation and lipomyelomeningocele are extremely rare. We present a rare combined case of a lipomyelomeningocele with an intramedullary arteriovenous malformation (AVM) occurred at the L3-L4 level in a 30-year-old man who suffered from low back pain radiating to the lower extremities, dysuria, and frequency for 5 years. The MR studies showed an intradural mass with high-signal intensity on both T1-weighted and T2-weighted images, intermingled with multiple signal-void structures. The mass extended extradurally toward a subcutaneously forming fatty mass on the patient's back. Spinal angiography showed an AVM supplied by the radiculopial branches of the lumbar arteries and drained by tortuous, dilated, perimedullary veins. Endovascular embolization and surgical resection were performed. (orig.)

  19. Arteriovenous Malformation Detected by Small Bowel Endoscopy

    Directory of Open Access Journals (Sweden)

    Takaaki Fujii

    2014-10-01

    Full Text Available Gastrointestinal bleeding that originates in the small intestine is often difficult to diagnose. When successful diagnosis reveals a lesion that can be localized preoperatively, the laparoscopic approach is an appropriate and beneficial treatment modality for small bowel resection. A 69-year-old man presented with a 6-month history of gastrointestinal bleeding and symptomatic transfusion-dependent anemia. Upper and lower endoscopy were normal. Double-balloon endoscopy established the source of the bleeding as a 0.5-cm polypoid mass appearing as a submucosal tumor with redness and pulsation in the lower ileum, suggesting a vascular lesion. Laparoscopic small bowel resection was successful in removing the mass in the ileum. Histological evaluation of the mass revealed an arteriovenous malformation. Preoperative small bowel endoscopy can be useful for diagnosing the cause and localization of arteriovenous malformation in the small intestine.

  20. Bronchopulmonary foregut malformations: embryology, radiology and quandary

    International Nuclear Information System (INIS)

    Barnes, N.A.; Pilling, D.W.

    2003-01-01

    Bronchopulmonary foregut malformations (BPFM) are a heterogeneous group of pulmonary developmental anomalies that present at varying ages and with overlapping symptoms, signs and radiology. This article discusses the embryology of these lesions with reference to possible common origins and the link between aetiology and radiological appearance. The radiology of each lesion, both antenatally and postnatally, is described and illustrated. A number of quandaries exist in the prediction of prognosis and subsequent treatment of BPFM. We discuss the radiological features that may help to elucidate an individual prognosis and aid in the planning of treatment. The treatment options available for BPFM are briefly discussed. Finally, the link between BPFM, in particular cystic adenomatoid malformations and malignancy, is discussed. We aim to provide a comprehensive overview of the embryology, radiology, prognosis and treatment highlighting contentious issues of BPFM. (orig.)

  1. Chiari Type II malformation: Prenatal sonographic findings

    Directory of Open Access Journals (Sweden)

    Sadhanandham Shrinuvasan

    2015-01-01

    Full Text Available Chiari malformations (CM are a group of defects associated with the congenital caudal displacement of the cerebellum and brainstem. A thorough understanding of the sonographic findings is necessary for the diagnosis of CM in the developing fetus. Here, we present the classical imaging findings of CM Type II detected in a 25-year-old primigravida at 26 weeks of gestation by routine sonographic screening.

  2. UTERINE ARTERIOVENOUS MALFORMATION: A CASE REPORT

    OpenAIRE

    Chandrashekar Murthy; Kiran

    2014-01-01

    Uterine arteriovenous malformation (AVM) is a rare condition, with less than 100 cases reported in the literature. Despite it being rare, it is a potentially life threatening disease. This case report describes 31- year-old women who presented with abnormal uterine bleeding. Trans abdominal sonography, colour and spectral Doppler imaging was performed, diagnosis was confirmed by non- invasive MRI scan. Laparoscopic bilateral uterine artery ligation was done successfully.

  3. NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

    Science.gov (United States)

    Shi, Hongjun; Enriquez, Annabelle; Rapadas, Melissa; Martin, Ella M M A; Wang, Roni; Moreau, Julie; Lim, Chai K; Szot, Justin O; Ip, Eddie; Hughes, James N; Sugimoto, Kotaro; Humphreys, David T; McInerney-Leo, Aideen M; Leo, Paul J; Maghzal, Ghassan J; Halliday, Jake; Smith, Janine; Colley, Alison; Mark, Paul R; Collins, Felicity; Sillence, David O; Winlaw, David S; Ho, Joshua W K; Guillemin, Gilles J; Brown, Matthew A; Kikuchi, Kazu; Thomas, Paul Q; Stocker, Roland; Giannoulatou, Eleni; Chapman, Gavin; Duncan, Emma L; Sparrow, Duncan B; Dunwoodie, Sally L

    2017-08-10

    Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients. We used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations. We tested the function of the variant by using assays of in vitro enzyme activity and by quantifying metabolites in patient plasma. We engineered mouse models with similar variants using the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 system. Variants were identified in two genes that encode enzymes of the kynurenine pathway, 3-hydroxyanthranilic acid 3,4-dioxygenase (HAAO) and kynureninase (KYNU). Three patients carried homozygous variants predicting loss-of-function changes in the HAAO or KYNU proteins (HAAO p.D162*, HAAO p.W186*, or KYNU p.V57Efs*21). Another patient carried heterozygous KYNU variants (p.Y156* and p.F349Kfs*4). The mutant enzymes had greatly reduced activity in vitro. Nicotinamide adenine dinucleotide (NAD) is synthesized de novo from tryptophan through the kynurenine pathway. The patients had reduced levels of circulating NAD. Defects similar to those in the patients developed in the embryos of Haao-null or Kynu-null mice owing to NAD deficiency. In null mice, the prevention of NAD deficiency during gestation averted defects. Disruption of NAD synthesis caused a deficiency of NAD and congenital malformations in humans and mice. Niacin supplementation during gestation prevented the malformations in mice. (Funded by the National Health and Medical Research Council of Australia and others.).

  4. Congenital cystic adenomatoid lung malformation of newborn

    International Nuclear Information System (INIS)

    Reither, M.; Peltner, H.U.; Weigel, W.; Braune, M.; Heiming, E.

    1980-01-01

    The congenital cystic adenomatoid malformation (CCAM) of the newborn is a particular form among the cystic disorders of the lung. The clinical findings, illustrated by four cases, and especially the roentgenographic symptoms are typical. Different radiologic examinations, including the computertomography, are discussed. The differential diagnosis of the disease is various, and therefore a correct and on time diagnosis is necessary, because the prognosis of the patient depends on an adequate therapy. (orig.) [de

  5. Cerebral arteriovenous malformation in Noonan's syndrome.

    OpenAIRE

    Schon, F.; Bowler, J.; Baraitser, M.

    1992-01-01

    Noonan's syndrome involves the association of multiple congenital abnormalities including neck webbing, pectus excavatum, facial anomalies with a variety of cardiac defects. In this paper the association of Noonan's syndrome with a large cerebral arteriovenous malformation is reported. Congenital cerebrovascular abnormalities are not a recognized feature of the syndrome. The paper also reviews previous reports of neurological associations with Noonan's syndrome, the commonest being mild intel...

  6. Radiological features of childhood giant cavernous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Ozgen, Burce; Senocak, Efsun; Oguz, Kader K. [Hacettepe University, Department of Radiology, Faculty of Medicine, Ankara (Turkey); Soylemezoglu, Figen [Hacettepe University, Department of Pathology, School of Medicine, Ankara (Turkey); Akalan, Nejat [Hacettepe University, Department of Neurosurgery, School of Medicine, Ankara (Turkey)

    2011-04-15

    Giant cavernous malformations (GCM) are very large, low-flow vascular malformations, which usually have atypical imaging features and are commonly misdiagnosed preoperatively as neoplasms or vascular malformations. These lesions have mostly been reported in children. As cavernomas show different features in children compared to adults, we evaluated the imaging features of pediatric GCMs in order to help in the preoperative diagnosis of these malformations. Brain MR studies of nine children (mean age of 4 years; 8 months-9 years) with biopsy-proven GCM were retrospectively evaluated. We defined GCMs as cavernomas of {>=}4 cm. Lesions were evaluated regarding their size, location, signal characteristics, general appearance (uni/multilocular) as well as regarding the presence of mass effect, edema, and fluid-fluid levels and were classified according to the Mottolese classification of pediatric cavernomas. Lesion locations were parietal (n = 5), frontal (n = 2), temporal, and intraventricular. Seven lesions were in the periventricular region (with five in the periatrial region). Six patients had T1 hyperintense multilobulated lesions with ''bubbles of blood'' appearance and three patients had heterogeneous lesions with reticular core. All lesions had mass effect, edema (marked in four cases), and peripheral hemosiderin rim. Fluid-fluid levels were also common (n = 7). Most of our lesions (six of nine) were classified as type IIIA, two as type IIIC, and one as type IA. In children, a GCM should be considered in case of very large hemorrhagic intra-axial mass with ''bubbles of blood'' multicystic appearance, surrounding hemosiderin ring, fluid-fluid levels, and accompanying edema-mass effect, especially in the periatrial location. (orig.)

  7. Argon Plasma Coagulation Therapy Versus Topical Formalin for Intractable Rectal Bleeding and Anorectal Dysfunction After Radiation Therapy for Prostate Carcinoma

    Energy Technology Data Exchange (ETDEWEB)

    Yeoh, Eric, E-mail: eric.yeoh@health.sa.gov.au [Department of Radiation Oncology, Royal Adelaide Hospital, Adelaide (Australia); School of Medicine, University of Adelaide, Adelaide (Australia); Tam, William; Schoeman, Mark [School of Medicine, University of Adelaide, Adelaide (Australia); Department of Gastroenterology, Royal Adelaide Hospital, Adelaide (Australia); Moore, James; Thomas, Michelle [School of Medicine, University of Adelaide, Adelaide (Australia); Department of Colorectal Surgery, Royal Adelaide Hospital, Adelaide (Australia); Botten, Rochelle; Di Matteo, Addolorata [Department of Radiation Oncology, Royal Adelaide Hospital, Adelaide (Australia)

    2013-12-01

    Purpose: To evaluate and compare the effect of argon plasma coagulation (APC) and topical formalin for intractable rectal bleeding and anorectal dysfunction associated with chronic radiation proctitis. Methods and Materials: Thirty men (median age, 72 years; range, 49-87 years) with intractable rectal bleeding (defined as ≥1× per week and/or requiring blood transfusions) after radiation therapy for prostate carcinoma were randomized to treatment with APC (n=17) or topical formalin (n=13). Each patient underwent evaluations of (1) anorectal symptoms (validated questionnaires, including modified Late Effects in Normal Tissues–Subjective, Objective, Management, and Analytic and visual analogue scales for rectal bleeding); (2) anorectal motor and sensory function (manometry and graded rectal balloon distension); and (3) anal sphincteric morphology (endoanal ultrasound) before and after the treatment endpoint (defined as reduction in rectal bleeding to 1× per month or better, reduction in visual analogue scales to ≤25 mm, and no longer needing blood transfusions). Results: The treatment endpoint was achieved in 94% of the APC group and 100% of the topical formalin group after a median (range) of 2 (1-5) sessions of either treatment. After a follow-up duration of 111 (29-170) months, only 1 patient in each group needed further treatment. Reductions in rectal compliance and volumes of sensory perception occurred after APC, but no effect on anorectal symptoms other than rectal bleeding was observed. There were no differences between APC and topical formalin for anorectal symptoms and function, nor for anal sphincteric morphology. Conclusions: Argon plasma coagulation and topical formalin had comparable efficacy in the durable control of rectal bleeding associated with chronic radiation proctitis but had no beneficial effect on anorectal dysfunction.

  8. Argon Plasma Coagulation Therapy Versus Topical Formalin for Intractable Rectal Bleeding and Anorectal Dysfunction After Radiation Therapy for Prostate Carcinoma

    International Nuclear Information System (INIS)

    Yeoh, Eric; Tam, William; Schoeman, Mark; Moore, James; Thomas, Michelle; Botten, Rochelle; Di Matteo, Addolorata

    2013-01-01

    Purpose: To evaluate and compare the effect of argon plasma coagulation (APC) and topical formalin for intractable rectal bleeding and anorectal dysfunction associated with chronic radiation proctitis. Methods and Materials: Thirty men (median age, 72 years; range, 49-87 years) with intractable rectal bleeding (defined as ≥1× per week and/or requiring blood transfusions) after radiation therapy for prostate carcinoma were randomized to treatment with APC (n=17) or topical formalin (n=13). Each patient underwent evaluations of (1) anorectal symptoms (validated questionnaires, including modified Late Effects in Normal Tissues–Subjective, Objective, Management, and Analytic and visual analogue scales for rectal bleeding); (2) anorectal motor and sensory function (manometry and graded rectal balloon distension); and (3) anal sphincteric morphology (endoanal ultrasound) before and after the treatment endpoint (defined as reduction in rectal bleeding to 1× per month or better, reduction in visual analogue scales to ≤25 mm, and no longer needing blood transfusions). Results: The treatment endpoint was achieved in 94% of the APC group and 100% of the topical formalin group after a median (range) of 2 (1-5) sessions of either treatment. After a follow-up duration of 111 (29-170) months, only 1 patient in each group needed further treatment. Reductions in rectal compliance and volumes of sensory perception occurred after APC, but no effect on anorectal symptoms other than rectal bleeding was observed. There were no differences between APC and topical formalin for anorectal symptoms and function, nor for anal sphincteric morphology. Conclusions: Argon plasma coagulation and topical formalin had comparable efficacy in the durable control of rectal bleeding associated with chronic radiation proctitis but had no beneficial effect on anorectal dysfunction

  9. Association of compartment defects in anorectal and pelvic floor dysfunction with female outlet obstruction constipation (OOC) by dynamic MR defecography.

    Science.gov (United States)

    Li, M; Jiang, T; Peng, P; Yang, X-Q; Wang, W-C

    2015-04-01

    Chronic constipation affects more than 17% of the global population worldwide, and up to 50% of patients were outlet obstruction constipation (OOC). Women and the elderly are most likely to be affected, due to female-specific risk factors, such as menopause, parity and multiparity. The aim of our study was to investigate the association of compartment defects in anorectal and pelvic floor dysfunction with female outlet obstruction constipation (OOC) by MR defecography. Fifty-six consecutive women diagnosed with outlet obstruction constipation from October 2009 to July 2011 were included. They were categorized into the following groups: anorectal disorder only group (27 patients) and anorectal disorder plus multi-compartment pelvic disorder group (29 patients). Relevant measurements were taken at rest, during squeezing and straining. Anismus was significantly more common in the anorectal disorder group compared to the multi-compartment pelvic disorder group. Conversely, rectocele, rectal prolapse, and descending perineum were significantly more common in the multi-compartment pelvic disorder group compared to the anorectal disorder group. Of the total 56 OOC patients, 34 (60.7%) exhibited anismus and 38 (67.9%) rectocele. Among the anismus patients, there were 8 patients (23.5%) with combined cystocele, and 6 patients (17.6%) with combined vaginal/cervical prolapse. Among the rectocele patients, there were 23 patients (60.5%) with combined cystocele and 18 patients (47.4%) with combined vaginal/cervical prolapse. With respect to anorectal defects, 13 anismus patients (38.2%) were with signal posterior pelvic defects, 4 rectocele patients (10.5%) presented with signal posterior pelvic defects. Inadequate defecatory propulsion due to outlet obstruction constipation is often associated with multi-compartment pelvic floor disorders, whereas not about dyssynergic defecation.

  10. The pitfalls of treating anorectal conditions after radiotherapy for prostate cancer.

    LENUS (Irish Health Repository)

    Thornhill, J A

    2012-03-01

    We present a salutary lesson learned from three cases with significant complications that followed anorectal intervention in the presence of radiation proctitis due to prior radiotherapy for adenocarcinoma of the prostate. After apparent routine rubber band ligation for painful haemorrhoids, one patient developed a colo-cutaneous fistula. Following laser coagulation for radiation proctitis, one patient required a pelvic exenteration for a fistula, while another developed a rectal stenosis. Those diagnosing and treating colonic conditions should be mindful of the increased prevalence of patients who have had radiotherapy for prostate cancer and the potential for complications in treating these patients.

  11. High-resolution Anorectal Manometry for Identifying Defecatory Disorders and Rectal Structural Abnormalities in Women.

    Science.gov (United States)

    Prichard, David O; Lee, Taehee; Parthasarathy, Gopanandan; Fletcher, Joel G; Zinsmeister, Alan R; Bharucha, Adil E

    2017-03-01

    Contrary to conventional wisdom, the rectoanal gradient during evacuation is negative in many healthy people, undermining the utility of anorectal high-resolution manometry (HRM) for diagnosing defecatory disorders. We aimed to compare HRM and magnetic resonance imaging (MRI) for assessing rectal evacuation and structural abnormalities. We performed a retrospective analysis of 118 patients (all female; 51 with constipation, 48 with fecal incontinence, and 19 with rectal prolapse; age, 53 ± 1 years) assessed by HRM, the rectal balloon expulsion test (BET), and MRI at Mayo Clinic, Rochester, Minnesota, from February 2011 through March 2013. Thirty healthy asymptomatic women (age, 37 ± 2 years) served as controls. We used principal components analysis of HRM variables to identify rectoanal pressure patterns associated with rectal prolapse and phenotypes of patients with prolapse. Compared with patients with normal findings from the rectal BET, patients with an abnormal BET had lower median rectal pressure (36 vs 22 mm Hg, P = .002), a more negative median rectoanal gradient (-6 vs -29 mm Hg, P = .006) during evacuation, and a lower proportion of evacuation on the basis of MRI analysis (median of 40% vs 80%, P < .0001). A score derived from rectal pressure and anorectal descent during evacuation and a patulous anal canal was associated (P = .005) with large rectoceles (3 cm or larger). A principal component (PC) logistic model discriminated between patients with and without prolapse with 96% accuracy. Among patients with prolapse, there were 2 phenotypes, which were characterized by high (PC1) or low (PC2) anal pressures at rest and squeeze along with higher rectal and anal pressures (PC1) or a higher rectoanal gradient during evacuation (PC2). In a retrospective analysis of patients assessed by HRM, measurements of rectal evacuation by anorectal HRM, BET, and MRI were correlated. HRM alone and together with anorectal descent during evacuation may identify

  12. Complex arteriovenous malformation - a case report

    International Nuclear Information System (INIS)

    Sirakov, S.; Penkov, M.; Marinov, M.; Kamenov, B.

    2014-01-01

    AVMs are composed of a network of channels interposed between feeding arteries and draining veins, without any direct shunt. Two different anatomic types of nidus may be more or less differentiated: The most frequent clinical presentations of brain AVMs are hemorrhage, seizure, chronic headache, and focal deficits not related to hemorrhage. We show a case of 27 years old female came to the hospital in heavy condition with subarachnoid hemorrhage Fisher 4. She had a history of 4 surgical operation of brain AVM in the last 10 years, without significant reduction of the malformation. After discussion of multidisciplinary team, of neuroradiologist and neurosurgeon was decided to be perform endovascular embolization, because of the better outcome for the patient. We performed endovascular treatment of the AVM with achieving subtotal embolization of malformation (90%). The patient recovery completely after 22 days and went home. For the next 18 months follow up there is no data of accidents for the patient. Key words: Arteriovenous Malformation. Subarachnoid hemorrhage. Endovascular treatment. Embolization

  13. Neuroradiological evaluation of dorsal cyst malformations

    International Nuclear Information System (INIS)

    Utsunomiya, Hidetsuna; Hayashi, Takashi; Hashimoto, Takeo; Matsuishi, Toyojiro; Okudera, Toshio.

    1988-01-01

    We discussed six cases with dorsal cyst malformations listing their neuroradiological observations and proposed to differentiate between the holosphere and hemisphere as defined by Yokota (1984). The cases were divided into holospheric and hemispheric groups depending on the continuity of their frontal lobe midlines. Cases 1, 2 and 3 were placed in the holospheric group because of their unseparated frontal lobe sbeneath the partially formed anterior interhemispheric fissures. Cases 4, 5 and 6 were grouped in the hemisphere due to the completion of the interhemispheric fissures. There has been a tendency in recent years for most cases of cerebral malformations having an endogenous dorsal cyst with monoventricular configuration to be diagnosed as holoprosencephaly. However, we believe that only patients who have a dorsal cyst in the holospheric brain should be included, and the others in the hemispheric brain, which is capable of completing hemispheric cleavage, should not. Therefore, we emphasize the importance of correctly identifying the holospheric state in the dorsal cyst malformations for diagnosing holoprosencephaly. (author)

  14. Congenital cystic lung malformations; Konnatale zystische Lungenfehlbildungen

    Energy Technology Data Exchange (ETDEWEB)

    Stoever, B.; Scheer, I.; Bassir, C. [Klinik fuer Strahlenheilkunde, Berlin (Germany). Abt. Paediatrische Radiologie, Charite; Mau, H. [Campus Virchow-Klinikum, Klinik fuer Kinderchirurgie, Berlin (Germany); Chaoui, R. [Campus Mitte, Klinik fuer Geburtsmedizin, Berlin (Germany); Henrich, W. [Campus Virchow-Klinikum, Klinik fuer Geburtsmedizin, Berlin (Germany); Schwabe, M. [Campus Mitte, Inst. fuer Pathologie, Berlin (Germany); Wauer, R. [Campus Mitte, Klinik fuer Neonatologie, Berlin (Germany)

    2006-04-15

    Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

  15. CT findings in Arnold-Chiari malformation

    Energy Technology Data Exchange (ETDEWEB)

    Tanaka, Y.; Nakamura, S. (Aichi Prefecture Colony, Kasugai (Japan). Central Hospital); Yamada, H.; Kageyama, N.

    1981-12-01

    CT scans of Arnold-Chiari malformations demonstrate many abnormal findings that are considered to be specific for this type of malformation. Fifty patients with Arnold-Chiari malformations were studied, and their CT findings were analyzed. This number included 14 preshunted neonatal cases and 36 post-shunted infantile cases. Craniolacunia was recognized only in the neonatal cases, but other skull changes, including scaphocephaly and petrous scalloping, were found more frequently in the infantile cases. The posterior fossa abnormality was composed of several specific changes, such as a non-visualized fourth ventricle, a lateral or upward growth of the cerebellum, or a beaking deformity of the midbrain. These findings were far more common in the infantile cases. However, in 7 neonatal cases on which CT cisternography was performed, these posterior fossa changes were well recognized in the majority of cases. Hydrocephalus was found in all cases. In half of the post-shunted infantile cases, the lateral ventricles were markedly collapsed. Characteristic features of the lateral ventricles, such as a protruding of the caudate nuclei, a pointing of the frontal and/or occipital horns, an absent septum pellucidum, or dominently dilated occipital horns, were commonly found in both neonatal and infantile cases. The subarachnoid space was remarkably widened at the retrothalamic cistern and/or the interhemispheric fissure in many cases.

  16. Abortion, premature delivery, stillborn, and malformations

    International Nuclear Information System (INIS)

    Sato, Yukio

    1992-01-01

    Since A-bomb disaster in Hiroshima and Nagasaki, genetic effects of A-bomb radiation have been investigated in the offspring of A-bomb survivors. This paper outlines the results of the previous studies in the context of the historical backgrounds. An earlier survey using a cohort of 71,280 children of Hiroshima and Nagasaki A-bomb survivors and a suitable control population of non-exposed 55,870 persons have dealt with the stillborn, neonate death, 9-month-old infant death, malformations at birth and 9 months after birth, and sex ratio in F 1 offspring; it was found that there was no significant difference in these items between the exposed and non-exposed groups. The other survey using fetal and neonatal autopsy cases has revealed that the incidence of malformations was significantly higher in children born to A-bomb survivors than those of the control population (18.5% vs 11.0%); however, there was no evidence of genetic abnormalities specific to the group of A-bomb survivors. Until now, no definitive conclusions of the sex ratio at birth have been drawn. Regarding height in F 1 offspring, no significant difference existed between the exposed and non-exposed groups. Nor was there significant difference in malformations in F 1 and F 2 offspring between the group of A-bomb survivors and the suitable control group. (N.K.)

  17. Developmental malformations of the cerebral cortex

    International Nuclear Information System (INIS)

    Reiss-Zimmermann, Martin; Weber, D.; Sorge, I.; Hirsch, W.; Merkenschlager, A.

    2010-01-01

    Migration disorders (MD) are increasingly recognized as an important cause of epilepsy and developmental delay. Up to 25% of children with refractory epilepsy have a cortical malformation. MD encompass a wide spectrum with underlying genetic etiologies and clinical manifestations. Research regarding the delineation of the genetic and molecular basis of these disorders has provided greater insight into the pathogenesis of not only the malformation but also the process involved in normal cortical development. Diagnosis of MD is important since patients who fail three antiepileptic medications are less likely to have their seizures controlled with additional trials of medications and therefore epilepsy surgery should be considered. Recent improvements in neuroimaging have resulted in a significant increase in the recognition of MD. Findings can be subdivided in disorders due to abnormal neurogenesis, neuronal migration, neuronal migration arrest and neuronal organization resulting in different malformations like microcephaly, lissencephaly, schizencephaly and heterotopia. The examination protocol should include T1-w and T2-w sequences in adequate slice orientation. T1-w turbo-inversion recovery sequences (TIR) can be helpful to diagnose heterotopia. Contrast agent is needed only to exclude other differential diagnoses. (orig.)

  18. Developmental biology and the study of malformations.

    Science.gov (United States)

    Hughes, A F

    1976-05-01

    Experimental work on abnormal conditions of incubation in the chick has been undertaken to acquire a scientific approach to malformations. More precise experiments on causing abnormalities had a common origin with experimental embryology. Progress in experimental teratology during the last 50 years is reviewed in a commentary on the 4 principles formulated by Stockard in 1921. The results of cytogenetical studies in man and in other organisms have led to the tracing of some relationships between them. Present knowledge concerning malformations of the neural tube, originating either experimentally, spontaneously, or phenotypically, has been presented and the teratological implications of some recent theories on the expression of the genotype are discussed in particular reference to problems of hormones as teratogens, the implication of carbohydrate metabolism, and teratogenesis. It is speculated that teratogenesis is possibly related to cationic balance in early development and that 1 factor retarding progress in the understanding of malformations is the tendency toward the development of teratology in an adequately close relationship with other branches of cell biology.

  19. Peripheral venous malformations and pulmonary hypertension: A case report and literature review

    Directory of Open Access Journals (Sweden)

    Nambakam Tanuja Subramanyam

    2015-01-01

    Full Text Available Extensive pure peripheral venous malformations are rare. We report occurrence of peripheral venous malformations associated with pulmonary hypertension in a middle-aged male, who had nodular, irregular, soft, compressible, painless, non-pulsatile swellings over dependant positions such as forearms, hands, axilla, and genitalia, with overgrowth of hands and fingers enlarging slowly since early childhood. He had right ventricular failure signs. Plain films showed soft-tissue mass with diffuse calcifications (phleboliths. Doppler study showed low flow vascular channels, compressible hypoechoic lesions along with occasional hyperechoeic lesion corresponding with phleboliths. Magnetic resonance imaging (MRI, T1-weighted showed polypoidal mass with heterogenous hypo to intermediate signal with no flow voids. T2-weighted MRI showed high-signal intensity mass. Computed tomography (CT pulmonary angiogram showed pulmonary hypertension, no thrombi or vascular malformation. He was treated with angiotensin-converting enzyme inhibitors, diuretics, amiodarone, antiplatelets, and venous stockings. Specific therapy such as sclerosis and surgical resection could not be done as he was discharged against medical advice.

  20. MRI findings of intracranial cavernous malformations

    International Nuclear Information System (INIS)

    Han, Byoung Hee; Kim, Dong Ik; Cho, Yong Kuk

    1995-01-01

    To analyze the variable MRI features and clinical significance of intracranial cavernous malformations. Forty patients(mean age 35.4) with cavernous malformation were evaluated by MRI. Eleven patients were surgically confirmed. Cavernous malformations were divided into four categories on the basis of the MR imaging characteristics, especially on T2-weighted image. Type I lesion was defined as an extralesional subacute hemorrhage outside the low signal rim, type II as an intralesional hemorrhage surrounded by low signal rim, type III lesion as an intralesional thrombosis with variegated central core surrounded by low signal rim, and type IV lesion as a focal old hemorrhagic core with small low signal intensity. Type IV was further divided into IVa and IVb, whether the lesion has small iso-or hypersignal central core (IVa) or not (IVb). Follow-up MRI was evaluated in 12 patients who were managed conservatively. Follow-up intervals ranged from 2 weeks to 29 months (mean 6 months). Total 80 lesions were detected in 40 patients. Multiple lesions were noted in 10 patients. The topography of the cavernous malformations was supratentorial in 75% and infratentorial in 23%. There were 10 lesions in type I, 15 in type II, 21 in type III, 14 in type IVa, and 20 in type IVb. Type I lesions mainly showed mass effect and edema. Type III lesions showed minimal contrast enhancements in 7 lesions on delayed images. Type II lesions showed the characteristics of both type I and type III lesions. On follow up images, decrease in size in 5, change of type in 7, rebleeding in 2 and no change in 12 lesions were demonstrated. Hemorrhage, edema and mass effect were combined in the cases of rebleeding. On follow-up study, the estimated risk of bleeding was 32.3%/person-year and 13.7%/lesion-year. Cavernous malformations show as variable appearance, on MR imaging suggesting variable stages of evolution. The MR morphologic classification and evaluation of secondary findings are helpful to

  1. Primary definitive procedure versus conventional three-staged procedure for the management of low-type anorectal malformation in females: A randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Alisha Gupta

    2017-01-01

    Conclusions: Females with VF or PF undergoing primary definitive procedure have a significantly higher incidence of wound dehiscence (P = 0.04, immediate (P = 0.001 and early postoperative complications (P = 0.01.

  2. Fever in pregnancy and the risk of congenital malformations

    DEFF Research Database (Denmark)

    Sass, L.; Urhoj, S. K.; Kjærgaard, J.

    2017-01-01

    fetal malformations or death. Fever during pregnancy, especially during embryogenesis, has also been associated with congenital malformations in human offspring. The purpose of this large cohort study of clinically recognized pregnancies was to investigate whether fever during first trimester...... was associated with an increased risk of congenital malformations in the offspring. Methods: The Danish National Birth Cohort is a population-based cohort of 100,418 pregnant women and their offspring recruited in 1996 to 2002. Information on fever during pregnancy was collected prospectively by means of two....... Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations...

  3. Maternal smoking in pregnancy and risk for congenital malformations

    DEFF Research Database (Denmark)

    Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K.

    2014-01-01

    and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized.......e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95......% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid...

  4. Cranial CT signs of the Chiari II malformation

    International Nuclear Information System (INIS)

    Naidich, T.P.; Pudlowski, R.M.

    1980-01-01

    Serial CT scans of 32 patients with proved Chiari II malformations and 19 patients with hydrocephalus and meningomyelocele (presumed to have Chiari II malformation) were reviewed and compared with CT scans from 30 patients with non-chiari aqueductal stenosis to develop criteria for identifying the Chiari II malformation and for differentiating it from other forms of hydrocephalus. Correlation with post-mortem specimens of Chiari II brains provided a pathologic basis for the CT signs observed. (orig.) [de

  5. Clinico-roentgenological atlas of congenital malformations in human limbs

    International Nuclear Information System (INIS)

    Luzina, E.V.; Shakirov, Eh.A.

    1990-01-01

    The objective of the present atlas is to familiarize a wide range of physicians with localizations of congenital malformations in human limbs which are little studied clinically and roentgenologically. The atlas illustrates different variants of malformations of upper and lower limbs systematized by nosological principle; multiple and some, rarely occuring system deformations of the skeleton. Malformation features are described and their names are presented in compliance with the international classification taking into account the vocabulary of medical terms. 102 refs.; 121 figs

  6. Fever in pregnancy and the risk of congenital malformations

    DEFF Research Database (Denmark)

    Sass, L; Urhoj, S K; Kjærgaard, J

    2017-01-01

    Background: In a variety of animal species, hyperthermia in pregnancy has been recognized as teratogenic. Hyperthermia interferes with protein synthesis via heat-shock proteins, which can entail membrane disruption, cell death, vascular disruption, and placental infarction. This can induce severe....... Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations...

  7. Adrenal hormones and the anorectic response and adaptation of rats to amino acid imbalance.

    Science.gov (United States)

    Hammer, V A; Gietzen, D W; Sworts, V D; Beverly, J L; Rogers, Q R

    1990-12-01

    The role of adrenal function in the anorectic response and adaptation of rats to a diet with an isoleucine (Ile) imbalance was investigated. In the first of four experiments, rats were fed a mildly Ile-imbalanced diet after treatment with metyrapone, and inhibitor of glucocorticoid synthesis. In two separate experiments, rats were presented with either a mildly or severely Ile-imbalanced diet (4.93 and 9.86% imbalanced amino acid mixture, respectively) after bilateral adrenalectomy. Finally, the effects of ICS 205-930, a serotonin-3 receptor antagonist, on the intake of mildly Ile-imbalanced diet were tested in adrenalectomized animals. In each experiment a 2 X 2 factorial design was used. Neither metyrapone nor adrenalectomy altered the initial depression in the intake of an imbalanced diet. The adaptation phase in the response of adrenalectomized rats fed a mildly Ile-imbalanced diet was not different from that of controls, but adrenalectomized rats fed severely Ile-imbalanced diets were unable to adapt. Adrenalectomy did not alter the anti-anoretic activity of ICS 205-930 in this model. These results suggest that adrenal hormones are not necessary for the initial anoretic response or adaptation of rats to an Ile-imbalanced diet, nor are they implicated in the anti-anorectic effect of serotonin-3 blockade.

  8. Functional perineal colostomy with pudendal nerve anastomosis following anorectal resection: an experimental study.

    Science.gov (United States)

    Sato, T; Konishi, F

    1996-06-01

    The aim was to reconstruct the functional anus by using a transposed skeletal muscle with pudendal nerve anastomosis (PNA) after anorectal resection. Transposition of the biceps femoris muscle (BFM) with PNA around the perineal colostomy was performed in 22 dogs. In the control group (n = 11) the BFM with its own nerve was used. Evaluation was done at 3 to 5 months after the operation. A contraction with evoked potential on electrical stimulation of the pudendal nerve (22 of 22) and tonic electrical activity (10 of 10) were observed in the dogs with PNA but not in those without PNA. Increased electrical activity (6 of 6) and a reactive rise in the neoanal canal pressure (9 of 13) were seen just after the insertion of a microballoon in the dogs with PNA but not in those without PNA. The neoanal canal length was elongated, and the anorectal angle became acute on electrical stimulation in both groups. No difference was seen in the resting anal pressure between both groups. The pattern of actomyosin adenosine 5'-triphosphatase staining of the neosphincter with PNA converted from that of a BFM to that of the external anal sphincter. The defecatory status in the study group was better according to the evaluation of the feces on the cage floor. Acceptable neoanal function was achieved through the sphincter reconstruction with PNA.

  9. Anaesthetic management of a child with massive extracranial arteriovenous malformation

    Directory of Open Access Journals (Sweden)

    Faisal Shamim

    2012-01-01

    Full Text Available Vascular tumors affect the head and neck commonly but arteriovenous malformations are rare. Vascular malformations are often present at birth and grow with the patient, usually only becoming significant later in childhood. Embolization has been the mainstay of treatment in massive and complex arteriovenous malformations. We present a case of massive extracranial arteriovenous malformation in a 7-year-old boy causing significant workload on right heart and respiratory distress. The management of angioembolization under general anaesthesia and anaesthetic concerns are presented.

  10. Endometriosis and uterine malformations: infertility may increase severity of endometriosis.

    Science.gov (United States)

    Boujenah, Jeremy; Salakos, Eleonora; Pinto, Mélodie; Shore, Joanna; Sifer, Christophe; Poncelet, Christophe; Bricou, Alexandre

    2017-06-01

    The aim of our study was to compare the stage and severity of endometriosis in fertile and infertile women with congenital uterine malformations. We performed an observational study from September 2007 to December 2015 in a tertiary care university hospital and assisted reproductive technology center. A total of 52 patients with surgically proven uterine malformations were included. We compared 41 infertile patients with uterine malformations with 11 fertile patients with uterine malformation. The main outcome was the stage, score and type of endometriosis in regard to infertility and class of uterine malformation. The rate of endometriosis did not differ between the two groups (43.9 vs. 36.4%). The mean revised American Fertility Society score was higher in infertile patients with uterine malformations (19.02 vs. 6, p endometriosis (43.9 vs. 37.5%). Endometrioma and deep infiltrating endometriosis were associated with uterine malformations in infertile women, respectively 14.6 and 0%. No difference in the characteristics of endometriosis was found regarding the class of malformation. The association of uterine malformations and infertility may increase the severity of endometriosis and raise the issue of their diagnosis and management. © 2016 Nordic Federation of Societies of Obstetrics and Gynecology.

  11. Associated malformations among infants with anophthalmia and microphthalmia.

    Science.gov (United States)

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2012-03-01

    Infants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated malformations vary among different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with anophthalmia and microphthalmia in a geographically well defined population from 1979 to 2004 of 346,831 consecutive births. Of the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% had associated malformations. Infants with associated malformation were divided into recognizable conditions (22 infants [25%] with chromosomal and 15 infants [17%] with nonchromosomal conditions), and nonrecognizable conditions (41 infants [47%] with multiple malformations). Trisomies 13 and 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, CHARGE syndrome, Meckel-Gruber syndrome, and VACTERL association were most often present in recognizable nonchromosomal conditions. Malformations in the musculoskeletal, cardiovascular, and central nervous systems were the most common other anomalies in infants with multiple malformations and nonrecognizable conditions. The frequency of associated malformations in infants with anophthalmia or microphthalmia emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations-especially musculoskeletal, cardiac, and central nervous system anomalies-may need to be considered in infants with anophthalmia or microphthalmia, and referral of these infants for genetics evaluation and counseling seems warranted. Copyright © 2012 Wiley Periodicals, Inc.

  12. [Clinical analysis of 102 patients with congenital inner ear malformation].

    Science.gov (United States)

    Zhu, X; Lian, N; Cai, Z

    1995-01-01

    Hearing loss and CT findings of 200 ears from 102 cases with congenital malformation of inner ear were included in our study. Hearing loss was typically bilateral severe, or total deafness. 75 percent of them were found deaf within one-year-old. In addition, 47 patients' (46%) mothers were noted to have caught a cold in first trimester of pregnancy. Temporal bone abnormalties were described as five types: 1. Michel malformation, 2. Mondini malformation, 3. enlargement of the vestibular aqueducts, 4. developmental deformity of cochlear aqueduct, 5. developmental deformity of internal acoustic meatus. Most cases showed malformations of vestibule or vestibular aqueducts.

  13. Genetics Home Reference: microcephaly-capillary malformation syndrome

    Science.gov (United States)

    ... and Stroke: Epilepsy Information Page National Institute of Neurological Disorders and Stroke: Microcephaly Educational Resources (7 links) Boston Children's Hospital: Capillary Malformation Boston Children's Hospital: Microcephaly Centers ...

  14. Study of placenta of children born with congenital malformations.

    Science.gov (United States)

    Stoll, Claude; Alembik, Yves; Dott, Béatrice; Roth, Marie-Paule

    2003-01-01

    The malformations in this study were observed in a series of 279,642 consecutive births of known outcome registered in our Registry of congenital anomalies. For each case, more than 50 factors included in the registration forms were studied. One of the factors studied was the placenta. For each malformed child, a control was chosen. Cases with maternal known factors impairing placenta function, i.e. vasculopathy and diabetes, were excluded. In each category of malformations studied, the malformed children were divided into isolated and non-isolated (multiple malformed) cases. The weight of placenta of isolated cases was not lower than the weight of placenta of the controls. In contrast, the weight of placenta of the cases with non-isolated malformations was lower than the weight of placenta of the controls and of the isolated cases, for all categories of malformations but gastroschisis and omphalocele. The mean weights at birth of the cases with multiple malformations were also lower than those of the controls. The human placenta discounts a principal functional part, the maternal blood in the intervillous space. Congenital malformations may interact with this function.

  15. an intermediate moisture meat

    African Journals Online (AJOL)

    STORAGESEVER

    2008-07-04

    Jul 4, 2008 ... traditional SM muscle without compromising quality. ... technique is intermediate moisture food processing. ... Traditionally, most tsire suya producers use ..... quality of Chinese purebred and European X Chinese crossbred ...

  16. Bacterial intermediate filaments

    DEFF Research Database (Denmark)

    Charbon, Godefroid; Cabeen, M.; Jacobs-Wagner, C.

    2009-01-01

    Crescentin, which is the founding member of a rapidly growing family of bacterial cytoskeletal proteins, was previously proposed to resemble eukaryotic intermediate filament (IF) proteins based on structural prediction and in vitro polymerization properties. Here, we demonstrate that crescentin...

  17. Mapping Intermediality in Performance

    NARCIS (Netherlands)

    2010-01-01

    Mapping Intermediality in Performance benadert het vraagstuk van intermedialiteit met betrekking tot performance (vooral theater) vanuit vijf verschillende invalshoeken: performativiteit en lichaam; tijd en ruimte; digitale cultuur en posthumanisme; netwerken; pedagogiek en praxis. In deze boeiende

  18. Intermediate algebra & analytic geometry

    CERN Document Server

    Gondin, William R

    1967-01-01

    Intermediate Algebra & Analytic Geometry Made Simple focuses on the principles, processes, calculations, and methodologies involved in intermediate algebra and analytic geometry. The publication first offers information on linear equations in two unknowns and variables, functions, and graphs. Discussions focus on graphic interpretations, explicit and implicit functions, first quadrant graphs, variables and functions, determinate and indeterminate systems, independent and dependent equations, and defective and redundant systems. The text then examines quadratic equations in one variable, system

  19. Dynamics of rectal balloon implant shrinkage in prostate VMAT. Influence on anorectal dose and late rectal complication risk

    International Nuclear Information System (INIS)

    Vanneste, Ben G.L.; Wijk, Y. van; Lutgens, L.C.; Limbergen, E.J. van; Lambin, P.; Lin, E.N. van; Beek, K. van de; Hoffmann, A.L.

    2018-01-01

    To assess the effect of a shrinking rectal balloon implant (RBI) on the anorectal dose and complication risk during the course of moderately hypofractionated prostate radiotherapy. In 15 patients with localized prostate cancer, an RBI was implanted. A weekly kilovolt cone-beam computed tomography (CBCT) scan was acquired to measure the dynamics of RBI volume and prostate-rectum separation. The absolute anorectal volume encompassed by the 2 Gy equieffective 75 Gy isodose (V 75Gy ) was recalculated as well as the mean anorectal dose. The increase in estimated risk of grade 2-3 late rectal bleeding (LRB) between the start and end of treatment was predicted using nomograms. The observed acute and late toxicities were evaluated. A significant shrinkage of RBI volumes was observed, with an average volume of 70.4% of baseline at the end of the treatment. Although the prostate-rectum separation significantly decreased over time, it remained at least 1 cm. No significant increase in V 75Gy of the anorectum was observed, except in one patient whose RBI had completely deflated in the third week of treatment. No correlation between mean anorectal dose and balloon deflation was found. The increase in predicted LRB risk was not significant, except in the one patient whose RBI completely deflated. The observed toxicities confirmed these findings. Despite significant decrease in RBI volume the high-dose rectal volume and the predicted LRB risk were unaffected due to a persistent spacing between the prostate and the anterior rectal wall. (orig.) [de

  20. Urethral Lymphogranuloma Venereum Infections in Men With Anorectal Lymphogranuloma Venereum and Their Partners: The Missing Link in the Current Epidemic?

    NARCIS (Netherlands)

    de Vrieze, Nynke Hesselina Neeltje; van Rooijen, Martijn; Speksnijder, Arjen Gerard Cornelis Lambertus; de Vries, Henry John C.

    2013-01-01

    Urethral lymphogranuloma venereum (LGV) is not screened routinely. We found that in 341 men having sex with men with anorectal LGV, 7 (2.1%) had concurrent urethral LGV. Among 59 partners, 4 (6.8%) had urethral LGV infections. Urethral LGV is common, probably key in transmission, and missed in

  1. Urethral lymphogranuloma venereum infections in men with anorectal lymphogranuloma venereum and their partners: the missing link in the current epidemic?

    Science.gov (United States)

    de Vrieze, Nynke Hesselina Neeltje; van Rooijen, Martijn; Speksnijder, Arjen Gerard Cornelis Lambertus; de Vries, Henry John C

    2013-08-01

    Urethral lymphogranuloma venereum (LGV) is not screened routinely. We found that in 341 men having sex with men with anorectal LGV, 7 (2.1%) had concurrent urethral LGV. Among 59 partners, 4 (6.8%) had urethral LGV infections. Urethral LGV is common, probably key in transmission, and missed in current routine LGV screening algorithms.

  2. Role of anorectic N-acylethanolamines in intestinal physiology and satiety control with respect to dietary fat

    DEFF Research Database (Denmark)

    Hansen, Harald S.

    2014-01-01

    ), and they have biological activity by themselves being anorectic and anti-inflammatory. It appears that the major effect of dietary fat on the level of these molecules is in the gastrointestinal system, where OEA, PEA and LEA in the enterocytes may function as homeostatic signals, which are decreased...

  3. Semi-automated vectorial analysis of anorectal motion by magnetic resonance defecography in healthy subjects and fecal incontinence.

    Science.gov (United States)

    Noelting, J; Bharucha, A E; Lake, D S; Manduca, A; Fletcher, J G; Riederer, S J; Joseph Melton, L; Zinsmeister, A R

    2012-10-01

    Inter-observer variability limits the reproducibility of pelvic floor motion measured by magnetic resonance imaging (MRI). Our aim was to develop a semi-automated program measuring pelvic floor motion in a reproducible and refined manner. Pelvic floor anatomy and motion during voluntary contraction (squeeze) and rectal evacuation were assessed by MRI in 64 women with fecal incontinence (FI) and 64 age-matched controls. A radiologist measured anorectal angles and anorectal junction motion. A semi-automated program did the same and also dissected anorectal motion into perpendicular vectors representing the puborectalis and other pelvic floor muscles, assessed the pubococcygeal angle, and evaluated pelvic rotation. Manual and semi-automated measurements of anorectal junction motion (r = 0.70; P controls. This semi-automated program provides a reproducible, efficient, and refined analysis of pelvic floor motion by MRI. Puborectalis injury is independently associated with impaired motion of puborectalis, not other pelvic floor muscles in controls and women with FI. © 2012 Blackwell Publishing Ltd.

  4. Laser treatment of oral vascular malformations

    Science.gov (United States)

    Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.

    2014-01-01

    Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.

  5. Clinical and Genetic Studies in Inherited Cardiovascular Malformations

    NARCIS (Netherlands)

    I.M.B.H. van de Laar (Ingrid)

    2012-01-01

    textabstractCardiovascular malformations comprise a broad spectrum of anomalies of the heart and blood vessels, including congenital heart malformations (CHM) and aortic aneurysms, the two main topics of this thesis. These conditions lead to significant morbidity and mortality both in infancy and

  6. NPHP4 Variants Are Associated With Pleiotropic Heart Malformations

    NARCIS (Netherlands)

    French, Vanessa M.; van de Laar, Ingrid M. B. H.; Wessels, Marja W.; Rohe, Christan; Roos-Hesselink, Jolien W.; Wang, Guangliang; Frohn-Mulder, Ingrid M. E.; Severijnen, Lies-Anne; de Graaf, Bianca M.; Schot, Rachel; Breedveld, Guido; Mientjes, Edwin; van Tienhoven, Marianne; Jadot, Elodie; Jiang, Zhengxin; Verkerk, Annemieke; Swagemakers, Sigrid; Venselaar, Hanka; Rahimi, Zohreh; Najmabadi, Hossein; Meijers-Heijboer, Hanne; de Graaff, Esther; Helbing, Wim A.; Willemsen, Rob; Devriendt, Koen; Belmont, John W.; Oostra, Ben A.; Amack, Jeffrey D.; Bertoli-Avella, Aida M.

    2012-01-01

    Rationale: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. Objective: To identify genetic

  7. NPHP4 variants are associated with pleiotropic heart malformations.

    NARCIS (Netherlands)

    French, V.M.; Laar, I.M. van de; Wessels, M.W.; Rohe, C.; Roos-Hesselink, J.W.; Wang, G.; Frohn-Mulder, I.M.; Severijnen, L.A.; Graaf, B.M. de; Schot, R.; Breedveld, G.; Mientjes, E.; Tienhoven, M. van; Jadot, E.; Jiang, Z.; Verkerk, A.; Swagemakers, S.; Venselaar, H.; Rahimi, Z.; Najmabadi, H.; Meijers-Heijboer, H.; Graaff, E. de; Helbing, W.A.; Willemsen, R.; Devriendt, K.; Belmont, J.W.; Oostra, B.A.; Amack, J.D.; Bertoli-Avella, A.M.

    2012-01-01

    RATIONALE: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. OBJECTIVE: To identify genetic

  8. Epizootic of ovine congenital malformations associated with Schmallenberg virus infection

    NARCIS (Netherlands)

    Brom, van der R.; Luttikholt, S.J.; Lievaart-Peterson, K.; Peperkamp, N.H.M.T.; Mars, M.H.; Poel, van der W.H.M.; Vellema, P.

    2012-01-01

    Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25

  9. Multiple congenital skeletal malformations in a lamb associated with ...

    African Journals Online (AJOL)

    Other malformations included patella absence, resulting in bowing of both fore and hind limbs with poorly developed muscles associated with these skeletal structure. Dystocia was believed to be a result of fetal monstrosity resulting in abnormal posture. The cause of the congenital malformations was not obvious ...

  10. Angiographic findings of congenital vascular malformation in soft tissue

    International Nuclear Information System (INIS)

    Choi, Dae Seob; Park, Jae Hyung; Han, Joon Koo; Chung, Jin Wook; Moon, Woo Kyung; Han, Man Chung

    1994-01-01

    We evaluated the clinical, plain radiographic, and angiographic findings of congenital vascular malformation of the soft tissue. Retrospective analysis was performed in 36 patients. Pathological diagnosis was done in 25 patients by surgery and the others were clinically and angiographically diagnosed. On the basis of angiographic findings, we classified the lesions to three groups as arteriovenous malformation (AVM), hemangioma, and venous malformation. In pathologically proven 25 cases, we compared the angiographic diagnosis with the pathologic diagnosis. By angiographic classification, AVM was 13 cases, hemangioma 16 cases, and venous malformation 7 cases. The locations of the lesions were upper extremities in 14 cases, lower extremities in 20 cases, both extremities in 1 case, and back in 1 case. Clinical findings were bruit and thrill in 13 cases(12 AVMs,1 hemangioma) and varicosities in 16 cases(11 AVMs, 3 hemangiomas and 2 venous malformations). The varicosities in AVM were pulsating nature, but not in hemangioma and venous malformation. The concordance rate of the angiographic and pathologic diagnosis was 100%(6/6) in AVM, 71%(10/14) in hemangioma and 60% (3/5) in venous malformation. We think that angiography is an essential study for accurate diagnosis and appropriate treatment of congenital vascular malformation

  11. Dandy-Walker malformation | Hamid | Egyptian Journal of Medical ...

    African Journals Online (AJOL)

    Dandy-Walker malformation is a rare congenital malformation and involves the cerebellum and fourth ventricle. The condition is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be ...

  12. Congenital malformation of the systemic heart of Sepia officinalis l ...

    African Journals Online (AJOL)

    Numerous preparations of the circulatory system of Sepia officinalis L. caught from the Bay of Arcachon (Atlantic Coast of France) in 1989 and 1996 showed an obvious congenital malformation of the systemic heart complex. The malformation consisted of a cord- or truncus-like structure at the left cranio-apical ventricle.

  13. Uterine arteriovenous malformation as a rare cause of genital bleeding

    International Nuclear Information System (INIS)

    Rodriguez, A.; Escartin, I.; Riazuelo, G.; Zaragozano, R.

    2002-01-01

    Uterine arteriovenous malformation is a rarely described entity, the presenting sign of which is usually genital bleeding. We report a case of this malformation in a woman of child-bearing age with a history of traumatic delivery and repeated subsequent curettage, describing the ultrasound, computed tomography and magnetic resonance findings, as well as the results of arteriography. (Author) 5 refs

  14. Valproic acid monotherapy in pregnancy and major congenital malformations

    DEFF Research Database (Denmark)

    Jentink, Janneke; Loane, Maria A; Dolk, Helen

    2010-01-01

    The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited.......The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited....

  15. First report of microcephaly-capillary malformations syndrome in ...

    African Journals Online (AJOL)

    Background: Microcephaly-capillary malformation (MIC-CAP) syndrome is a newly described autosomal recessive syndrome characterized by microcephaly, multiple cutaneous capillary malformations, intractable epilepsy and profound developmental delay. We present the first description of MIC-CAP syndrome in Russia.

  16. Imaging of cardiovascular malformations in Williams syndrome

    International Nuclear Information System (INIS)

    Li Shiguo; Zhao Shihua; Jiang Shiliang; Huang Lianjun; Xu Zhongying; Ling Jian; Zheng Hong; Yan Chaowu; Lu Jinguo

    2008-01-01

    Objective: To evaluate the imaging methods for cardiovascular malformations in Williams syndrome(WS). Methods: Thirteen cases of WS (7 males and 6 females) aged 10 months to 13 years were involved in this study. All patients underwent chest X-ray radiography, electrocardiography, echocardiography and physical examination. 3 cases underwent electronic beam computed tomography (EBCT), cardiac catheterization and angiography were performed in 8 cases. Results: Twelve patients were referred to our hospital for cardiac murmur and 1 case for cyanosis after birth. 7 patients were found with 'elfin-like' facial features, 6 patients with pulmonary arterial stenosis, 2 cases with patent ductus arteriosus, 2 cases with severe pulmonary hypertension and 1 case with total endocardial cushion defect. Sudden death occurred in 2 patients during and after catheterization, respectively. Conclusions: Conventional angiography is the golden standard for the diagnosis of cardiovascular malformations in WS. Noninvasive methods such as MSCT and MRI should be suggested because of the risk of sudden death in conventional angiography. (authors)

  17. Evolutionary hypothesis for Chiari type I malformation.

    Science.gov (United States)

    Fernandes, Yvens Barbosa; Ramina, Ricardo; Campos-Herrera, Cynthia Resende; Borges, Guilherme

    2013-10-01

    Chiari I malformation (CM-I) is classically defined as a cerebellar tonsillar herniation (≥5 mm) through the foramen magnum. A decreased posterior fossa volume, mainly due to basioccipital hypoplasia and sometimes platybasia, leads to posterior fossa overcrowding and consequently cerebellar herniation. Regardless of radiological findings, embryological genetic hypothesis or any other postulations, the real cause behind this malformation is yet not well-elucidated and remains largely unknown. The aim of this paper is to approach CM-I under a broader and new perspective, conjoining anthropology, genetics and neurosurgery, with special focus on the substantial changes that have occurred in the posterior cranial base through human evolution. Important evolutionary allometric changes occurred during brain expansion and genetics studies of human evolution demonstrated an unexpected high rate of gene flow interchange and possibly interbreeding during this process. Based upon this review we hypothesize that CM-I may be the result of an evolutionary anthropological imprint, caused by evolving species populations that eventually met each other and mingled in the last 1.7 million years. Copyright © 2013 Elsevier Ltd. All rights reserved.

  18. Sirenomelia and caudal malformations in two families.

    Science.gov (United States)

    Gerard, Marion; Layet, Valérie; Costa, Teresa; Roumazeilles, Yves; Chenal, Pierre; Cailliez, Daniel; Gerard, Bénédicte

    2012-07-01

    We report on two families with co-occurrence of sirenomelia and caudal malformations. In the first family, the mother had undergone surgery for a short form of imperforate anus. Her first pregnancy was terminated because of bilateral renal agenesis with oligohydramnios. Her second pregnancy was interrupted because of sirenomelia. The second family was referred to us because of caudal malformation in their two children. The parents' spinal radiographs were normal. The first pregnancy resulted in a girl with imperforate anus, absence of S3-S5 and coccyx, abnormal pelvic floor, and an almost bifid anteriorly located bladder. The second pregnancy resulted in a baby girl with sirenomelia. No diabetes was present during the pregnancies in either of these two families. These families confirm the hypothesis that major genes are responsible for the embryogenesis of the caudal part of the embryo, with variable expression, as has been already described in sirenomelia mouse models (CYP26A1, BMP7/tsg). Molecular studies are underway in these families and in sporadic cases in our laboratory to explore the genetic basis of sirenomelia in humans. Copyright © 2012 Wiley Periodicals, Inc.

  19. Imaging in spine and spinal cord malformations

    International Nuclear Information System (INIS)

    Rossi, Andrea; Biancheri, Roberta; Cama, Armando; Piatelli, Gianluca; Ravegnani, Marcello; Tortori-Donati, Paolo

    2004-01-01

    Spinal and spinal cord malformations are collectively named spinal dysraphisms. They arise from defects occurring in the early embryological stages of gastrulation (weeks 2-3), primary neurulation (weeks 3-4), and secondary neurulation (weeks 5-6). Spinal dysraphisms are categorized into open spinal dysraphisms (OSDs), in which there is exposure of abnormal nervous tissues through a skin defect, and closed spinal dysraphisms (CSD), in which there is a continuous skin coverage to the underlying malformation. Open spinal dysraphisms basically include myelomeningocele and other rare abnormalities such as myelocele and hemimyelo(meningo)cele. Closed spinal dysraphisms are further categorized based on the association with low-back subcutaneous masses. Closed spinal dysraphisms with mass are represented by lipomyelocele, lipomyelomeningocele, meningocele, and myelocystocele. Closed spinal dysraphisms without mass comprise simple dysraphic states (tight filum terminale, filar and intradural lipomas, persistent terminal ventricle, and dermal sinuses) and complex dysraphic states. The latter category further comprises defects of midline notochordal integration (basically represented by diastematomyelia) and defects of segmental notochordal formation (represented by caudal agenesis and spinal segmental dysgenesis). Magnetic resonance imaging (MRI) is the preferred modality for imaging these complex abnormalities. The use of the aforementioned classification scheme is greatly helpful to make the diagnosis

  20. Morphologic-echocardiographic correlates of Ebstein's malformation.

    Science.gov (United States)

    Rusconi, P G; Zuberbuhler, J R; Anderson, R H; Rigby, M L

    1991-07-01

    The cross-sectional echocardiographic findings were analysed retrospectively in 26 patients with Ebstein's malformation in the light of studies of autopsied specimens from different patients showing this lesion. The salient anatomical feature in diagnosis is the finding of the hinge point of the septal and mural leaflets of the valve within the inlet component of the right ventricle rather than at the atrioventricular junction. The other important feature is the nature of the distal attachment of the leaflets, particularly the anterosuperior one, which can either be in focal or linear fashion. The hinge point of the septal leaflet was noted echocardiographically to be displaced in 19 patients but, significantly, the leaflet was absent in the other seven. Also significant was that the hinge point of the mural leaflet at the crux had been visualized in only 15 of the patients. The anterosuperior leaflet had a distal linear attachment in 20 of the patients, with the anteroseptal commissure becoming a keyhole in six of these through which blood passed to the functional right ventricle. The valve remained a competent structure, even though closing at the junction of atrialized and functional components of the right ventricle rather than at the atrioventricular junction. Cross-sectional echocardiography is the technique of choice with which to display the salient morphological features of Ebstein's malformation.

  1. Amplatzer vascular plugs in congenital cardiovascular malformations

    International Nuclear Information System (INIS)

    Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv

    2013-01-01

    Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow

  2. Analysis of Lethality and Malformations During Zebrafish (Danio rerio) Development.

    Science.gov (United States)

    Raghunath, Azhwar; Perumal, Ekambaram

    2018-01-01

    The versatility offered by zebrafish (Danio rerio) makes it a powerful and an attractive vertebrate model in developmental toxicity and teratogenicity assays. Apart from the newly introduced chemicals as drugs, xenobiotics also induce abnormal developmental abnormalities and congenital malformations in living organisms. Over the recent decades, zebrafish embryo/larva has emerged as a potential tool to test teratogenicity potential of these chemicals. Zebrafish responds to compounds as mammals do as they share similarities in their development, metabolism, physiology, and signaling pathways with that of mammals. The methodology used by the different scientists varies enormously in the zebrafish embryotoxicity test. In this chapter, we present methods to assess lethality and malformations during zebrafish development. We propose two major malformations scoring systems: binomial and relative morphological scoring systems to assess the malformations in zebrafish embryos/larvae. Based on the scoring of the malformations, the test compound can be classified as a teratogen or a nonteratogen and its teratogenic potential is evaluated.

  3. Transcatheter arterial embolization for congenital renal arteriovenous malformation

    International Nuclear Information System (INIS)

    Zhou Jun; Hu Tingyang; Yuan Jianhua; Yu Wenqiang

    2008-01-01

    Objective: To evaluate the effectiveness of transcatheter arterial embolization for congenital renal arteriovenous malformation. Methods: Seven cases of congenital renal arteriovenous malformation causing gross hematuria were retrospectively studied. All of 7 cases were demonstrated by means of angiography and then the catheter was placed superselectively into the involved arterial end of the malformation undertaking embolization with gelfoam, dehydrated ethanol, coils, etc. Results: All the malformations of the 7 cases were successfully embolized with stoppage of gross hematuria within 24 hours. No serious complications occurred except lumbago, fever, gastrointestinal reaction for one week. There was no recurrence of haematuria and the renal function was also normal in all cases during the follow-up for 36 to 98 months. Conclusions: Transcatheter renal arterial angiography and embolization are the important and effective management for the diagnosis and treatment of congenital renal arteriovenous malformation. (authors)

  4. Congenital malformations of the external and middle ear

    International Nuclear Information System (INIS)

    Koesling, S.; Omenzetter, M.; Bartel-Friedrich, S.

    2009-01-01

    With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis in congenital aural atresia. Isolated middle ear malformations can be clinically mixed up especially with otosclerosis and tympanosclerosis. Imaging is needed for exact morphological information. In malformations of the external and middle ear, CT is the imaging modality of choice. Requirements on CT-technique as well as radiological findings including classification and pre-surgical rating are described. Morphological CT-correlates of congenital malformations and their differential diagnoses are enlisted and illustrated. The impact of CT-results on therapy is explained and actual therapeutic concepts are briefly presented

  5. [Therapy of intermediate uveitis].

    Science.gov (United States)

    Doycheva, D; Deuter, C; Zierhut, M

    2014-12-01

    Intermediate uveitis is a form of intraocular inflammation in which the vitreous body is the major site of inflammation. Intermediate uveitis is primarily treated medicinally and systemic corticosteroids are the mainstay of therapy. When recurrence of uveitis or side effects occur during corticosteroid therapy an immunosuppressive treatment is required. Cyclosporine A is the only immunosuppressive agent that is approved for therapy of uveitis in Germany; however, other immunosuppressive drugs have also been shown to be effective and well-tolerated in patients with intermediate uveitis. In severe therapy-refractory cases when conventional immunosuppressive therapy has failed, biologics can be used. In patients with unilateral uveitis or when the systemic therapy is contraindicated because of side effects, an intravitreal steroid treatment can be carried out. In certain cases a vitrectomy may be used.

  6. Mobile communication and intermediality

    DEFF Research Database (Denmark)

    Helles, Rasmus

    2013-01-01

    communicative affordances of mobile devices in order to understand how people choose between them for different purposes. It is argued that mobile communication makes intermediality especially central, as the choice of medium is detached from the location of stationary media and begins to follow the user across......The article argues the importance of intermediality as a concept for research in mobile communication and media. The constant availability of several, partially overlapping channels for communication (texting, calls, email, Facebook, etc.) requires that we adopt an integrated view of the various...

  7. Money distribution with intermediation

    OpenAIRE

    Teles, Caio Augusto Colnago

    2013-01-01

    This pap er analyzes the distribution of money holdings in a commo dity money search-based mo del with intermediation. Intro ducing heterogeneity of costs to the Kiyotaki e Wright ( 1989 ) mo del, Cavalcanti e Puzzello ( 2010) gives rise to a non-degenerated distribution of money. We extend further this mo del intro ducing intermediation in the trading pro cess. We show that the distribution of money matters for savings decisions. This gives rises to a xed p oint problem for the ...

  8. Anorectal function following colo-anal sleeve anastomosis for chronic radiation injury to the rectum

    Energy Technology Data Exchange (ETDEWEB)

    Varma, J S; Smith, A N

    1986-04-01

    This paper reports the results of anorectal manometry and electrophysiological studies of the pelvic floor in eight patients who had undergone anterior resection of the rectum with mucosal proctectomy and colo-anal sleeve anastomosis for radiation rectal injury. The group comprised six women and two men (age range 61-84 years, mean 71 years). Six bladder carcinoma patients had received small field (10 x 10 cm) external beam radiotherapy (5500 cGy in 20 treatments over 4 weeks); two cervical cancer patients had been given whole pelvis, external beam radiotherapy supplemented by a single caesium implant (cumulative dosage of 9500 cGy to the vaginal vault, equivalent to 7500 cG to point A).

  9. Anorectal function following colo-anal sleeve anastomosis for chronic radiation injury to the rectum

    International Nuclear Information System (INIS)

    Varma, J.S.; Smith, A.N.

    1986-01-01

    This paper reports the results of anorectal manometry and electrophysiological studies of the pelvic floor in eight patients who had undergone anterior resection of the rectum with mucosal proctectomy and colo-anal sleeve anastomosis for radiation rectal injury. The group comprised six women and two men (age range 61-84 years, mean 71 years). Six bladder carcinoma patients had received small field (10 x 10 cm) external beam radiotherapy (5500 cGy in 20 treatments over 4 weeks); two cervical cancer patients had been given whole pelvis, external beam radiotherapy supplemented by a single caesium implant (cumulative dosage of 9500 cGy to the vaginal vault, equivalent to 7500 cG to point A). (UK)

  10. Anismus as a marker of sexual abuse. Consequences of abuse on anorectal motility.

    Science.gov (United States)

    Leroi, A M; Berkelmans, I; Denis, P; Hémond, M; Devroede, G

    1995-07-01

    Anorectal manometry was performed in 40 women, who consulted for functional disorders of the lower gastrointestinal tract and had been sexually abused. Anismus, defined as a rise in anal pressure during straining, was observed in 39 of 40 abused women, but in only six of 20 healthy control women (P anismus, as well as the group of healthy controls. A decreased amplitude of anal voluntary contraction and an increased threshold volume in perception of rectal distension were observed in both abused and nonabused patients. A decreased amplitude of rectoanal inhibitory reflex, little rise in rectal pressure upon straining, frequent absence of initial contraction during rectal distension, and increased resting pressure at the lower part of the anal canal were observed in abused but not in nonabused patients, suggesting that these abnormalities, in association with anismus, suggest a pattern of motor activity in the anal canal that could be indicative of sexual abuse.

  11. Hepatic lipidosis in anorectic, lactating holstein cattle: a retrospective study of serum biochemical abnormalities.

    Science.gov (United States)

    Cebra, C K; Garry, F B; Getzy, D M; Fettman, M J

    1997-01-01

    The association between hepatic lipidosis (HL) and disease in 59 anorectic, ketotic, lactating Holstein heifers and cows was investigated. Severe HL, as determined by histologic evaluation of liver tissue, was present in 46 animals; only half of these animals required intensive treatment for ketosis, and only half had serum biochemical evidence of liver disease, as determined by the presence of a last value of 2-fold or greater than the upper limit of the reference ranges for at least 2 of the 4 serum tests: gamma-glutamyl transferase, aspartate aminotransferase, and sorbitol dehydrogenase activities and bile acid concentrations. Most cattle with biochemical evidence of liver disease and severe HL had been lactating for 14 or more days. Cows that required intensive treatment inconsistently had serum biochemical evidence of liver disease. Although cattle with severe HL had significantly higher serum bilirubin concentrations and aspartate aminotransferase and sorbitol dehydrogenase activities than cattle with less severe lipidosis, the specificity of abnormally high serum sorbitol dehydrogenase activity or bilirubin concentration for severe lipidosis was only 8%. Abnormally high serum aspartate aminotransferase activity was 83% sensitive and 62% specific for severe lipidosis. Serum glucose and total carbon dioxide concentrations were significantly lower in cattle with severe lipidosis than in those with mild or moderate lipidosis, and low serum glucose or total carbon dioxide concentrations were rare in cattle without severe lipidosis. From these data, we conclude that the use of a single biochemical or histopathologic criterion to define severity of disease or degree of liver compromise in anorectic, ketotic cows results in the misidentification of many animals.

  12. Anorectal Lymphogranuloma Venereum in Madrid: A Persistent Emerging Problem in Men Who Have Sex With Men.

    Science.gov (United States)

    Cabello Úbeda, Alfonso; Fernández Roblas, Ricardo; García Delgado, Rosa; Martínez García, Laura; Sterlin, Fabiola; Fernández Guerrero, Manuel L; Górgolas, Miguel

    2016-07-01

    Since 2003, outbreaks of lymphogranuloma venereum (LGV) with anorectal syndrome have been increasingly recognized in many Western countries. All of them have been classified as LGV serovar L2b, mainly occurring in human immunodeficiency virus (HIV)-infected men who have had sex with men (MSM). We describe a series of 26 diagnosed cases of LGV proctitis in downtown Madrid, Spain, in 2014, after implementing routine diagnostic procedures for this disease in symptomatic MSM. We conducted an observational study of patients with symptomatic proctitis attending an outpatient infectious diseases clinic in Madrid, Spain during calendar year 2014. Clinical, epidemiological, laboratory, and therapeutic data were gathered and analyzed. Twenty-six patients were included in the analysis. All were MSM, and 24 of them were HIV-positive. All patients reported having acute proctitis symptoms including tenesmus (85%), pain (88%), constipation (62%), or anal discharge (96%). Proctoscopy showed mucopurulent exudate (25 patients [96%]), and rectal bleeding, with mucosal erythema and/or oedema in all cases. Rectal swabs were obtained from all patients, and LGV serovar L2 was confirmed in all of them. The cure rate was 100% after standard treatments with doxycycline 100 mg twice per day for 3 weeks. Simultaneous rectal infections with other sexually transmitted pathogens (gonorrhoea, herpes simplex virus, Mycoplasma genitalium) and systemic sexually transmitted diseases (STDs) (syphilis, acute HIV, and hepatitis C infections) were also documented in 12 patients (46%), but these co-infections did not appear to influence the clinical manifestations of LGV. Anorectal LGV is a common cause of acute proctitis and proctocolitis among HIV-infected MSM who practice unprotected anal sex, and it is frequently associated with other rectal STDs. The implementation of routine screening and prompt diagnosis of these rectal infections should be mandatory in all clinical settings attended by HIV and STD

  13. HIV-1 infection, but not syphilis or HBV infection, is a strong risk factor for anorectal condyloma in Asian population: A prospective colonoscopy screening study

    Directory of Open Access Journals (Sweden)

    Takeshi Nishijima

    2015-08-01

    Conclusions: HIV-1 infection, but not syphilis or HBV infection, was identified as a strong risk for anorectal condyloma. Anal HPV 16/18 was highly prevalent in patients with HIV-1 infection, especially in those with condyloma.

  14. A rare condition of anorectal dysfunction in a patient with multiple sclerosis: Coexistence of faecal incontinence and mechanical constipation: Report of case.

    Science.gov (United States)

    Dandin, Özgür; Akpak, Yaşam Kemal; Karakaş, Dursun Özgür; Hazer, Batuhan; Ergin, Tuncer; Dandinoğlu, Taner; Teomete, Uygar

    2014-01-01

    Multiple sclerosis is a chronic demyelinating neurological disease and causing a variety of neurological symptoms, including discomfort of anorectal function. Constipation and faecal incontinence present as anorectal dysfunction in MS and anal manometry, colonic transit time, electromyography, and defecography can be used for assessment. We presented a thirty-three years old woman with rare condition of anorectal dysfunction in multiple sclerosis. Anal manometry, defecography were done, and synchronously anal incontinence and mechanical constipation due to rectocele and anismus were detected in this patient. Although anal incontinence and constipation are seen often in patients with multiple sclerosis, in the literature, coexistence of animus, rectocele and anal incontinence are quite rare. Defecography and anal manometry are useful diagnostic methods for demonstration of anorectal dysfuntions in patients with MS. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  15. Anorectal and inguinal lymphogranuloma venereum among men who have sex with men in Amsterdam, The Netherlands: trends over time, symptomatology and concurrent infections.

    Science.gov (United States)

    de Vrieze, Nynke Hesselina Neeltje; van Rooijen, Martijn; Schim van der Loeff, Maarten Franciscus; de Vries, Henry John C

    2013-11-01

    To examine lymphogranuloma venereum (LGV) trends over time among men who have sex with men (MSM) visiting the Amsterdam sexually transmitted infection (STI) clinic; to investigate anal LGV symptomatology; and to examine the positivity and characteristics of anorectal and inguinal LGV. We included MSM consultations from whom a swab (from anorectum, bubo or an genital ulcer) was taken for Chlamydia trachomatis (Ct) screening. Anorectal swabs were taken from all MSM who reported receptive anorectal intercourse in the preceding 6 months. Ct positive samples were further tested with a pmpH PCR to identify L-genovars. Patient symptoms, clinical and anoscopic inflammatory signs, and STI co-infections were noted; Gram-stained anorectal mucosal smears were examined. Between January 2005 and June 2012, 48 570 consultations among MSM were conducted. In 3628/35 650 visits, anorectal Ct infections were diagnosed, including 411 anal LGV (1.2%). Moreover, 65/1649 genital ulcer swabs were Ct positive; 10 were inguinal LGV (0.6%) Since January 2011 a significant increase in the positivity of LGV occurred (p<0.0001). 89 (27.2%) anorectal LGV cases were asymptomatic. HIV prevalence among anorectal LGV cases was significantly higher (p=0.008) than among inguinal LGV cases. STI co-morbidity in anorectal LGV cases remained invariably high during the study period. Since January 2011, LGV positivity in MSM consultations in Amsterdam has risen significantly. The great majority comprise anal LGV; inguinal LGV is rare. Anal LGV is asymptomatic in a quarter of cases. In all MSM with anal Ct infections LGV should be excluded, irrespective of symptoms or inflammatory signs.

  16. PET in malformations of cortical development

    International Nuclear Information System (INIS)

    Bouilleret, V.; O'Brien, T.J.; Bouilleret, V.; Bouilleret, V.; Chiron, C.; Chiron, C.

    2009-01-01

    Within the group of malformations of cortical development, focal cortical dysplasia (FCD) are an increasingly recognized cause of intractable epilepsy that can be cured by surgery. The success of cortical resection for intractable epilepsy is highly dependent on the accurate pre-surgical delineation of the regions responsible for generating seizures. [ 18 F]-FDG PET, which images cerebral metabolism studying brain glucose uptake, is the most established functional imaging modality in the evaluation of patients with epilepsy. The aim of this article is to review [ 18 F]-FDG PET usefulness as a pre-surgical tool in the evaluation of medically refractory partial epilepsy. It has an established place in assisting in the localisation and definition of FCD in patients with no lesion, or only a subtle abnormality, on MRI. The role of FDG-PET in defining the extent of the surgical resection is still uncertain and needs to be the focus of future research. (authors)

  17. Management of patients with brain arteriovenous malformations

    International Nuclear Information System (INIS)

    Soederman, Michael; Andersson, Tommy; Karlsson, Bengt; Wallace, M. Christopher; Edner, Goeran

    2003-01-01

    Arteriovenous malformations (AVMs) of the brain, which are probably genetically determined, are errors in the development of the vasculature that, together with the effects of blood flow, may lead to a focal arteriovenous shunt. Clinically, the adult patient may present with acute or chronic neurological symptoms--fixed or unstable--such as deficits, seizures or headache. Sometimes the lesion is an incidental finding. In about half of the patients, the revealing event is an intracranial haemorrhage. The prevalence of AVM in the western world is probably 10 ml could benefit from targeted partial embolisation followed by radiosurgery or surgery, depending on the angioarchitecture; and (IV) AVMs >20 ml nidus volume usually have a high treatment risk with any treatment modality and are not obvious targets for treatment at all

  18. Contemporary Management of Pulmonary Arteriovenous Malformations.

    Science.gov (United States)

    Rauh, Nicholas; Gurley, John; Saha, Sibu

    2017-12-01

    Pulmonary arteriovenous malformations (PAVMs) are atypical vascular structures involving a direct connection between the pulmonary arterial and venous circulations. While PAVMs are a relatively uncommon disorder, unmanaged cases are at risk for the development of serious complications including embolization and infection. Since their first description in 1897, PAVMs have been identified and treated in a variety of ways. Advancements in diagnostic methods and operative techniques have allowed for more effective treatment of the disease. Most recently, the use of vascular plug transcatheter embolization has been described as an effective therapeutic procedure in the management of PAVMs. In this report, we present our experience with nine cases of PAVMs treated at the University of Kentucky, including special consideration of an exemplary case that illustrates the typical course of treatment for the disease.

  19. Symptomatic Chiari malformation in infancy and adolescence

    International Nuclear Information System (INIS)

    Fukushima, Takeo; Matsuda, Toshihiro; Tsugu, Hitoshi; Sakamoto, Seisaburou; Tomonaga, Masamichi; Asakawa, Koji; Mitsudome, Akihisa; Hashimoto, Takahisa.

    1994-01-01

    Of the 7 children and adolescents with Chiari malformation reported here 5 had Chiari type 1 and 2 had Chiari type 2 disease. All 5 Chiari type 1 patients had syringomyelia and scoliosis, but the Chiari type 2 patients did not. All the patients except one with localized syringomyelia (case 3) underwent posterior decompression with suboccipital craniectomy, upper cervical laminectomy and duraplasty, and their clinical signs and symptoms improved. Case 3 received a syringo-subarachnoid shunt and improved clinically. Motor function was restored better than sensory function. Cranial nerve signs were cleared up in the Chiari type 2 patients. In the Chiari type 1 patients postoperative neurological improvement correlated well with the collapse of syringomyelia. Cine MR imaging was useful in the evaluation of CSF dynamics at the cranio-vertebral junction and in the syringomyelic cavity before and after surgery. (author)

  20. Congenital bronchopulmonary malformation: CT histopathological correlation.

    Science.gov (United States)

    Kyncl, Martin; Koci, Martin; Ptackova, Lea; Hornofova, Ludmila; Ondrej, Fabian; Snajdauf, Jiri; Pychova, Marcela

    2016-12-01

    This study evaluated the accuracy of postnatal computed tomography (CT) imaging in the identification of congenital bronchopulmonary malformation (BPM) in comparison with histopathological analysis. CT scans of prenatally diagnosed BPMs from 24 patients with available histology were analysed retrospectively. The CT images were reviewed blinded to histological findings by two radiologists. Specific diagnosis was assigned based on predetermined criteria. The accuracy of CT was evaluated. The agreement rate in CT diagnosis between two radiologists was 100%. In 75% the lesions were located in the lower lobes. An overlap of 71% in CT and histopathological diagnoses was reached. The least matching diagnosis was type 2 CPAM. Contrast enhanced chest CT is very accurate in characterizing the BPM spectrum and provides important information on lesion type and structure.

  1. Pulmonary arteriovenous malformations: overview and transcatheter embolotherapy

    International Nuclear Information System (INIS)

    Pugash, R.A.

    2001-01-01

    The majority of pulmonary arteriovenous malformations (pAVMs) are found in people with hereditary hemorrhagic telangiectasia (HHT), a condition also known as Osler-Weber-Rendu syndrome. HHT is a clinically heterogeneous autosomal dominant disorder in which abnormal blood vessels cause bleeding and arteriovenous shunting. The 2 basic lesions of HHT - telangiectasias and arteriovenous malformations (AVMs) - are closely related. Multisystem involvement leads to a staggering array of clinical manifestations, making HHT one of medicine's less familiar 'great pretenders'. Telangiectasias are dilated blood vessels, typically located in mucocutaneous surfaces (i.e., skin, conjunctiva, respiratory tract, gastrointestinal tract, urinary tract). Small telangiectasias are simply dilated post-capillary venules, whereas larger telangiectasias are made up of dilated arterioles and venules, often with no intervening capillary. They are, in essence, diminutive AVMs. These tiny lesions are visible as punctate bright red spots on skin and mucosal surfaces (Fig. 1). Their fragility and superficial location account for the disabling epistaxis and chronic gastrointestinal bleeding, which are so common with HHT. Hematuria (caused by urothelial telangiectasias) occurs occasionally but is not a prominent feature of the disease. Although tracheobronchial telangiectasias do occur and may cause hemoptysis, severe hemoptysis is typically related to pAVM rupture. AVMs are direct artery-to-vein connections. Though larger and far more impressive radiologically than telangiectasias, AVMs are more likely to be clinically silent until they either declare themselves in a catastrophic fashion or are detected by screening tests. In contrast to telangiectasias, which are generally found in epithelial surfaces, AVMs tend to develop within organs, most commonly the lung and brain. As screening methods evolve, liver involvement with both telangiectasias and complex AVMs is being recognized with increasing

  2. Pulmonary arteriovenous malformations: overview and transcatheter embolotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Pugash, R.A. [Univ. of Toronto, St. Michael' s Hospital, Dept. of Medical Imaging, Toronto, Ontario (Canada)

    2001-04-01

    The majority of pulmonary arteriovenous malformations (pAVMs) are found in people with hereditary hemorrhagic telangiectasia (HHT), a condition also known as Osler-Weber-Rendu syndrome. HHT is a clinically heterogeneous autosomal dominant disorder in which abnormal blood vessels cause bleeding and arteriovenous shunting. The 2 basic lesions of HHT - telangiectasias and arteriovenous malformations (AVMs) - are closely related. Multisystem involvement leads to a staggering array of clinical manifestations, making HHT one of medicine's less familiar 'great pretenders'. Telangiectasias are dilated blood vessels, typically located in mucocutaneous surfaces (i.e., skin, conjunctiva, respiratory tract, gastrointestinal tract, urinary tract). Small telangiectasias are simply dilated post-capillary venules, whereas larger telangiectasias are made up of dilated arterioles and venules, often with no intervening capillary. They are, in essence, diminutive AVMs. These tiny lesions are visible as punctate bright red spots on skin and mucosal surfaces (Fig. 1). Their fragility and superficial location account for the disabling epistaxis and chronic gastrointestinal bleeding, which are so common with HHT. Hematuria (caused by urothelial telangiectasias) occurs occasionally but is not a prominent feature of the disease. Although tracheobronchial telangiectasias do occur and may cause hemoptysis, severe hemoptysis is typically related to pAVM rupture. AVMs are direct artery-to-vein connections. Though larger and far more impressive radiologically than telangiectasias, AVMs are more likely to be clinically silent until they either declare themselves in a catastrophic fashion or are detected by screening tests. In contrast to telangiectasias, which are generally found in epithelial surfaces, AVMs tend to develop within organs, most commonly the lung and brain. As screening methods evolve, liver involvement with both telangiectasias and complex AVMs is being recognized

  3. Amplatzer vascular plugs in congenital cardiovascular malformations

    Directory of Open Access Journals (Sweden)

    Parag Barwad

    2013-01-01

    Full Text Available Background: Amplatzer vascular plugs (AVPs are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs. Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. Results: A total of 39 AVPs were implanted in 31 patients. Thirteen (33% were AVP type I and 23 (59% were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM (n = 7, aortopulmonary collaterals (n = 7, closure of a patent Blalock-Taussig shunt (n = 5, systemic AVM (n = 5, coronary AVM (n = 4, patent ductus arteriosus (PDA (n = 3, pulmonary artery aneurysms (n = 3, and venovenous collaterals (n = 2. Deployment of the AVP was done predominantly via the 5 - 7F Judkin′s right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. Conclusions: AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow.

  4. Eye malformations in Cameroonian children: a clinical survey

    Directory of Open Access Journals (Sweden)

    Eballé AO

    2012-10-01

    Full Text Available André Omgbwa Eballé,1,2 Augustin Ellong,3 Godefroy Koki,3 Ngoune Chantal Nanfack,3 Viola Andin Dohvoma,3 Côme Ebana Mvogo2,31Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital, Yaoundé, Cameroon; 2Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Cameroon; 3Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, CameroonSummary: The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital.Patients and methods: We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009.Results: Out of the 2254 children who were examined, 150 (6.65% presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%, congenital cataract (10.9%, congenital glaucoma (10.9%, microphthalmos (5.03%, and congenital ptosis (3.77%.Conclusion: Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management.Keywords: malformations, ophthalmology, child, Cameroon

  5. Contribution of Rare Copy Number Variants to Isolated Human Malformations

    Science.gov (United States)

    Serra-Juhé, Clara; Rodríguez-Santiago, Benjamín; Cuscó, Ivon; Vendrell, Teresa; Camats, Núria; Torán, Núria; Pérez-Jurado, Luis A.

    2012-01-01

    Background Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n = 7) or very uncommon (n = 15, malformations (21%), including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases. PMID:23056206

  6. Surgical experience with arteriovenous malformations of the brain

    International Nuclear Information System (INIS)

    Stein, B.M.

    1984-01-01

    Personal experience with the treatment of 200 arteriovenous malformations of the brain seen during the past decade is presented. One hundred and twenty of these patients underwent surgery, with a mortality of 1,7%. The morbidity rate of 10% includes cases of hemianopia after occipital malformations had been removed. Significant morbidity, including aphasia, hemiparesis and hemisensory loss, occurred in under 10% of cases. Computerized tomography plays an important role in determining the relationships of the arteriovenous malformations to associated structures such as the ventricular system

  7. ECOLOGICALLY DETERMINED MALFORMATIONS IN CHILDREN IN THE ULYANOVSK REGION

    Directory of Open Access Journals (Sweden)

    Elizaveta Grigoryevna Panchenko

    2018-03-01

    Full Text Available Currently particularly relevant is the interaction between ecology and people. The study had been carried to examine the correlation of congenital malformations from the residence. The analysis showed that increasing concentrations of heavy metals (lead, cadmium, and chromium in soil and air in some districts of the Ulyanovsk region correlates with a large number of congenital malformations in children, in contrast to those areas, where their content does not excees MPC, which allows to consider imbalance of trace elements as a possible factor in the development of congenital malformations.

  8. Fetal magnetic resonance imaging of thoracic and abdominal malformations

    International Nuclear Information System (INIS)

    Woitek, R.; Asenbaum, U.; Furtner, J.; Prayer, D.; Brugger, P.C.

    2013-01-01

    Diagnosis and differential diagnosis of fetal thoracic and abdominal malformations. Ultrasound and magnetic resonance imaging (MRI). In cases of suspected pathologies based on fetal ultrasound MRI can be used for more detailed examinations and can be of assistance in the differential diagnostic process. Improved imaging of anatomical structures and of the composition of different tissues by the use of different MRI sequences. Fetal MRI has become a part of clinical routine in thoracic and abdominal malformations and is the basis for scientific research in this field. In cases of thoracic or abdominal malformations fetal MRI provides important information additional to ultrasound to improve diagnostic accuracy, prognostic evaluation and surgical planning. (orig.) [de

  9. MR imaging evaluation of congenital malformation of the spine

    International Nuclear Information System (INIS)

    Byrd, S.E.; Radkowski, M.A.; McLone, D.G.; Storrs, B.B.

    1988-01-01

    One hundred fifty children with congenital malformations of the spine were studied with MR imaging, US, and water-soluble myelography with CT. The malformations encountered included myelomeningoceles and Chiari II malformations, diastematomyelia, hydromyelia, arachnoid cyst, dermal sinus and dermoid, spinal lipomas and teratomas, tight filum terminale, anterior sacral meningoceles, lipomyelomeningoceles, myelocystocele, and severe scoliosis. MR imaging was the most effective modality in delineating these abnormalities. At times, real-time US and water-soluble CT myelography were required as adjuncts to MR imaging in delineating subtle spinal cord tethering, arachnoid cyst, diastematomyelia, and severe scoliosis

  10. Evaluation of magnetic resonance imaging of Arnold-Chiari malformation

    Energy Technology Data Exchange (ETDEWEB)

    Yoshino, Kimihiro; Suga, Masakazu; Takemoto, Motohisa

    1987-06-01

    We evaluated the usefulness of magnetic resonance imaging (MRI) in the diagnosis of the Arnold-Chiari malformation. The patient, a 52-year-old man, complained of dizziness on walking. He initially refused to undergone myelography, but 4 months later, underwent MRI test, which lead to the diagnosis of Arnold-Chiari malformation (I type). Not all patients with symptoms of Arnold-Chiari malformation, syringomyelia, syringobulbia and cervical spinal tumor, undergone myelography, which is an invasive technique, therefore MRI should be the first examination for the patients with disorders involving the craniocervical junction.

  11. About kinetics of paramagnetic radiation malformations in beryllium ceramics

    International Nuclear Information System (INIS)

    Polyakov, A.I.; Ryabinkin, Yu.A.; Zashkvara, O.V.; Bitenbaev, M.I.; Petukhov, Yu.V.

    1999-01-01

    This paper [1] specifies that γ-radiation of the beryllium-oxide-based ceramics results in development of paramagnetic radiation malformations emerging the ESR spectrum in form of doublet with the splitting rate of oestrasid Δ∼1.6 and g-factor of 2.008. This report presents evaluation outcomes of dependence of paramagnetic radiation malformations concentration in beryllium ceramics on gamma-radiation dose ( 60 Co) within the range of 0-100 Mrad. Total paramagnetic parameters of beryllium ceramics in the range 0-100 Mrad of gamma-radiation dose varied slightly, and were specified by the first type of paramagnetic radiation malformations

  12. [Hypobaric 0.15% bupivacaine versus hyperbaric 0.5% bupivacaine for posterior (dorsal) spinal block in outpatient anorectal surgery.].

    Science.gov (United States)

    Imbelloni, Luiz Eduardo; Vieira, Eneida Maria; Gouveia, M A; Netinho, João Gomes; Cordeiro, José Antonio

    2006-12-01

    The aim of this study was to study low dose hypobaric 0.15% bupivacaine and hyperbaric 0.5% bupivacaine in outpatient anorectal surgical procedures. Two groups of 50 patients, physical status ASA I and II, undergoing anorectal surgical procedures in a jackknife position, received 6 mg of hypobaric 0.15% bupivacaine in the surgical position (Group 1) or 6 mg of hyperbaric 0.5% bupivacaine in the sitting position for 5 minutes, after which they were placed in a jackknife position (Group 2). Sensitive and motor blockade, time of first urination, ambulation, complications, and the need for analgesics were evaluated. Patients were followed until the third postoperative day and questioned whether they experienced post-puncture headache or temporary neurological symptoms, and until the 30th day and questioned about permanent neurological complications. The test t Student, Mood's median, and Fisher Exact test were used for statistical analysis, and a p hyperbaric or hypobaric, can be safely done.

  13. The Intermediate Neutrino Program

    CERN Document Server

    Adams, C.; Ankowski, A.M.; Asaadi, J.A.; Ashenfelter, J.; Axani, S.N.; Babu, K.; Backhouse, C.; Band, H.R.; Barbeau, P.S.; Barros, N.; Bernstein, A.; Betancourt, M.; Bishai, M.; Blucher, E.; Bouffard, J.; Bowden, N.; Brice, S.; Bryan, C.; Camilleri, L.; Cao, J.; Carlson, J.; Carr, R.E.; Chatterjee, A.; Chen, M.; Chen, S.; Chiu, M.; Church, E.D.; Collar, J.I.; Collin, G.; Conrad, J.M.; Convery, M.R.; Cooper, R.L.; Cowen, D.; Davoudiasl, H.; de Gouvea, A.; Dean, D.J.; Deichert, G.; Descamps, F.; DeYoung, T.; Diwan, M.V.; Djurcic, Z.; Dolinski, M.J.; Dolph, J.; Donnelly, B.; Dwyer, D.A.; Dytman, S.; Efremenko, Y.; Everett, L.L.; Fava, A.; Figueroa-Feliciano, E.; Fleming, B.; Friedland, A.; Fujikawa, B.K.; Gaisser, T.K.; Galeazzi, M.; Galehouse, D.C.; Galindo-Uribarri, A.; Garvey, G.T.; Gautam, S.; Gilje, K.E.; Gonzalez-Garcia, M.; Goodman, M.C.; Gordon, H.; Gramellini, E.; Green, M.P.; Guglielmi, A.; Hackenburg, R.W.; Hackenburg, A.; Halzen, F.; Han, K.; Hans, S.; Harris, D.; Heeger, K.M.; Herman, M.; Hill, R.; Holin, A.; Huber, P.; Jaffe, D.E.; Johnson, R.A.; Joshi, J.; Karagiorgi, G.; Kaufman, L.J.; Kayser, B.; Kettell, S.H.; Kirby, B.J.; Klein, J.R.; Kolomensky, Yu. G.; Kriske, R.M.; Lane, C.E.; Langford, T.J.; Lankford, A.; Lau, K.; Learned, J.G.; Ling, J.; Link, J.M.; Lissauer, D.; Littenberg, L.; Littlejohn, B.R.; Lockwitz, S.; Lokajicek, M.; Louis, W.C.; Luk, K.; Lykken, J.; Marciano, W.J.; Maricic, J.; Markoff, D.M.; Martinez Caicedo, D.A.; Mauger, C.; Mavrokoridis, K.; McCluskey, E.; McKeen, D.; McKeown, R.; Mills, G.; Mocioiu, I.; Monreal, B.; Mooney, M.R.; Morfin, J.G.; Mumm, P.; Napolitano, J.; Neilson, R.; Nelson, J.K.; Nessi, M.; Norcini, D.; Nova, F.; Nygren, D.R.; Orebi Gann, G.D.; Palamara, O.; Parsa, Z.; Patterson, R.; Paul, P.; Pocar, A.; Qian, X.; Raaf, J.L.; Rameika, R.; Ranucci, G.; Ray, H.; Reyna, D.; Rich, G.C.; Rodrigues, P.; Romero, E.Romero; Rosero, R.; Rountree, S.D.; Rybolt, B.; Sanchez, M.C.; Santucci, G.; Schmitz, D.; Scholberg, K.; Seckel, D.; Shaevitz, M.; Shrock, R.; Smy, M.B.; Soderberg, M.; Sonzogni, A.; Sousa, A.B.; Spitz, J.; St. John, J.M.; Stewart, J.; Strait, J.B.; Sullivan, G.; Svoboda, R.; Szelc, A.M.; Tayloe, R.; Thomson, M.A.; Toups, M.; Vacheret, A.; Vagins, M.; Van de Water, R.G.; Vogelaar, R.B.; Weber, M.; Weng, W.; Wetstein, M.; White, C.; White, B.R.; Whitehead, L.; Whittington, D.W.; Wilking, M.J.; Wilson, R.J.; Wilson, P.; Winklehner, D.; Winn, D.R.; Worcester, E.; Yang, L.; Yeh, M.; Yokley, Z.W.; Yoo, J.; Yu, B.; Yu, J.; Zhang, C.

    2015-01-01

    The US neutrino community gathered at the Workshop on the Intermediate Neutrino Program (WINP) at Brookhaven National Laboratory February 4-6, 2015 to explore opportunities in neutrino physics over the next five to ten years. Scientists from particle, astroparticle and nuclear physics participated in the workshop. The workshop examined promising opportunities for neutrino physics in the intermediate term, including possible new small to mid-scale experiments, US contributions to large experiments, upgrades to existing experiments, R&D plans and theory. The workshop was organized into two sets of parallel working group sessions, divided by physics topics and technology. Physics working groups covered topics on Sterile Neutrinos, Neutrino Mixing, Neutrino Interactions, Neutrino Properties and Astrophysical Neutrinos. Technology sessions were organized into Theory, Short-Baseline Accelerator Neutrinos, Reactor Neutrinos, Detector R&D and Source, Cyclotron and Meson Decay at Rest sessions.This report summ...

  14. The Intermediate Neutrino Program

    Energy Technology Data Exchange (ETDEWEB)

    Adams, C.; et al.

    2015-03-23

    The US neutrino community gathered at the Workshop on the Intermediate Neutrino Program (WINP) at Brookhaven National Laboratory February 4-6, 2015 to explore opportunities in neutrino physics over the next five to ten years. Scientists from particle, astroparticle and nuclear physics participated in the workshop. The workshop examined promising opportunities for neutrino physics in the intermediate term, including possible new small to mid-scale experiments, US contributions to large experiments, upgrades to existing experiments, R&D plans and theory. The workshop was organized into two sets of parallel working group sessions, divided by physics topics and technology. Physics working groups covered topics on Sterile Neutrinos, Neutrino Mixing, Neutrino Interactions, Neutrino Properties and Astrophysical Neutrinos. Technology sessions were organized into Theory, Short-Baseline Accelerator Neutrinos, Reactor Neutrinos, Detector R&D and Source, Cyclotron and Meson Decay at Rest sessions.This report summarizes discussion and conclusions from the workshop.

  15. The Intermediate Neutrino Program

    Energy Technology Data Exchange (ETDEWEB)

    Adams, C. [Yale Univ., New Haven, CT (United States); Alonso, J. R. [Massachusetts Inst. of Technology (MIT), Cambridge, MA (United States); Ankowski, A. M. [Virginia Polytechnic Inst. and State Univ. (Virginia Tech), Blacksburg, VA (United States); Asaadi, J. A. [Syracuse Univ., NY (United States); Ashenfelter, J. [Yale Univ., New Haven, CT (United States); Axani, S. N. [Massachusetts Inst. of Technology (MIT), Cambridge, MA (United States); Babu, K [Oklahoma State Univ., Stillwater, OK (United States); Backhouse, C. [California Inst. of Technology (CalTech), Pasadena, CA (United States); Band, H. R. [Yale Univ., New Haven, CT (United States); Barbeau, P. S. [Duke Univ., Durham, NC (United States); Barros, N. [Univ. of Pennsylvania, Philadelphia, PA (United States); Bernstein, A. [Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States); Betancourt, M. [Illinois Inst. of Technology, Chicago, IL (United States); Bishai, M. [Brookhaven National Lab. (BNL), Upton, NY (United States); Blucher, E. [Univ. of Chicago, IL (United States); Bouffard, J. [State Univ. of New York (SUNY), Albany, NY (United States); Bowden, N. [Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States); Brice, S. [Illinois Inst. of Technology, Chicago, IL (United States); Bryan, C. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Camilleri, L. [Columbia Univ., New York, NY (United States); Cao, J. [Inst. of High Energy Physics, Beijing (China); Carlson, J. [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Carr, R. E. [Columbia Univ., New York, NY (United States); Chatterjee, A. [Univ. of Texas, Arlington, TX (United States); Chen, M. [Univ. of California, Irvine, CA (United States); Chen, S. [Tsinghua Univ., Beijing (China); Chiu, M. [Brookhaven National Lab. (BNL), Upton, NY (United States); Church, E. D. [Illinois Inst. of Technology, Chicago, IL (United States); Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Collar, J. I. [Univ. of Chicago, IL (United States); Collin, G. [Massachusetts Inst. of Technology (MIT), Cambridge, MA (United States); Conrad, J. M. [Massachusetts Inst. of Technology (MIT), Cambridge, MA (United States); Convery, M. R. [SLAC National Accelerator Lab., Menlo Park, CA (United States); Cooper, R. L. [Indiana Univ., Bloomington, IN (United States); Cowen, D. [Pennsylvania State Univ., University Park, PA (United States); Davoudiasl, H. [Brookhaven National Lab. (BNL), Upton, NY (United States); Gouvea, A. D. [Northwestern Univ., Evanston, IL (United States); Dean, D. J. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Deichert, G. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Descamps, F. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); DeYoung, T. [Michigan State Univ., East Lansing, MI (United States); Diwan, M. V. [Brookhaven National Lab. (BNL), Upton, NY (United States); Djurcic, Z. [Argonne National Lab. (ANL), Argonne, IL (United States); Dolinski, M. J. [Drexel Univ., Philadelphia, PA (United States); Dolph, J. [Brookhaven National Lab. (BNL), Upton, NY (United States); Donnelly, B. [Massachusetts Inst. of Technology (MIT), Cambridge, MA (United States); Dwyer, D. A. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Dytman, S. [Univ. of Pittsburgh, PA (United States); Efremenko, Y. [Univ. of Tennessee, Knoxville, TN (United States); Everett, L. L. [Univ. of Wisconsin, Madison, WI (United States); Fava, A. [University of Padua, Padova (Italy); Figueroa-Feliciano, E. [Massachusetts Inst. of Technology (MIT), Cambridge, MA (United States); Fleming, B. [Yale Univ., New Haven, CT (United States); Friedland, A. [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Fujikawa, B. K. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Gaisser, T. K. [Univ. of Delaware, Newark, DE (United States); Galeazzi, M. [Univ. of Miami, FL (United States); Galehouse, DC [Univ. of Akron, OH (United States); Galindo-Uribarri, A. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Garvey, G. T. [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Gautam, S. [Tribhuvan Univ., Kirtipur (Nepal); Gilje, K. E. [Illinois Inst. of Technology, Chicago, IL (United States); Gonzalez-Garcia, M. [Stony Brook Univ., NY (United States); Goodman, M. C. [Argonne National Lab. (ANL), Argonne, IL (United States); Gordon, H. [Brookhaven National Lab. (BNL), Upton, NY (United States); Gramellini, E. [Yale Univ., New Haven, CT (United States); Green, M. P. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Guglielmi, A. [University of Padua, Padova (Italy); Hackenburg, R. W. [Brookhaven National Lab. (BNL), Upton, NY (United States); Hackenburg, A. [Yale Univ., New Haven, CT (United States); Halzen, F. [Univ. of Wisconsin, Madison, WI (United States); Han, K. [Yale Univ., New Haven, CT (United States); Hans, S. [Brookhaven National Lab. (BNL), Upton, NY (United States); Harris, D. [Illinois Inst. of Technology, Chicago, IL (United States); Heeger, K. M. [Yale Univ., New Haven, CT (United States); Herman, M. [Brookhaven National Lab. (BNL), Upton, NY (United States); Hill, R. [Univ. of Chicago, IL (United States); Holin, A. [Univ. College London, Bloomsbury (United Kingdom); Huber, P. [Virginia Polytechnic Inst. and State Univ. (Virginia Tech), Blacksburg, VA (United States); Jaffe, D. E. [Brookhaven National Lab. (BNL), Upton, NY (United States); Johnson, R. A. [Univ. of Cincinnati, OH (United States); Joshi, J. [Brookhaven National Lab. (BNL), Upton, NY (United States); Karagiorgi, G. [Univ. of Manchester (United Kingdom); Kaufman, L. J. [Indiana Univ., Bloomington, IN (United States); Kayser, B. [Illinois Inst. of Technology, Chicago, IL (United States); Kettell, S. H. [Brookhaven National Lab. (BNL), Upton, NY (United States); Kirby, B. J. [Brookhaven National Lab. (BNL), Upton, NY (United States); Klein, J. R. [Univ. of Texas, Arlington, TX (United States); Kolomensky, Y. G. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Univ. of California, Berkeley, CA (United States); Kriske, R. M. [Univ. of Minnesota, Minneapolis, MN (United States); Lane, C. E. [Drexel Univ., Philadelphia, PA (United States); Langford, T. J. [Yale Univ., New Haven, CT (United States); Lankford, A. [Univ. of California, Irvine, CA (United States); Lau, K. [Univ. of Houston, TX (United States); Learned, J. G. [Univ. of Hawaii, Honolulu, HI (United States); Ling, J. [Univ. of Illinois, Urbana-Champaign, IL (United States); Link, J. M. [Virginia Polytechnic Inst. and State Univ. (Virginia Tech), Blacksburg, VA (United States); Lissauer, D. [Brookhaven National Lab. (BNL), Upton, NY (United States); Littenberg, L. [Brookhaven National Lab. (BNL), Upton, NY (United States); Littlejohn, B. R. [Illinois Inst. of Technology, Chicago, IL (United States); Lockwitz, S. [Illinois Inst. of Technology, Chicago, IL (United States); Lokajicek, M. [Inst. of Physics of the Academy of Sciences of Czech Republic, Prague (Czech Republic); Louis, W. C. [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Luk, K. [Univ. of California, Berkeley, CA (United States); Lykken, J. [Illinois Inst. of Technology, Chicago, IL (United States); Marciano, W. J. [Brookhaven National Lab. (BNL), Upton, NY (United States); Maricic, J. [Univ. of Hawaii, Honolulu, HI (United States); Markoff, D. M. [North Carolina Central Univ., Durham, NC (United States); Caicedo, D. A. M. [Illinois Inst. of Technology, Chicago, IL (United States); Mauger, C. [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Mavrokoridis, K. [Univ. of Liverpool (United Kingdom); McCluskey, E. [Illinois Inst. of Technology, Chicago, IL (United States); McKeen, D. [Univ. of Washington, Seattle, WA (United States); McKeown, R. [Thomas Jefferson National Accelerator Facility (TJNAF), Newport News, VA (United States); Mills, G. [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Mocioiu, I. [Pennsylvania State Univ., University Park, PA (United States); Monreal, B. [Univ. of California, Santa Barbara, CA (United States); Mooney, M. R. [Brookhaven National Lab. (BNL), Upton, NY (United States); Morfin, J. G. [Illinois Inst. of Technology, Chicago, IL (United States); Mumm, P. [National Inst. of Standards and Technology (NIST), Boulder, CO (United States); Napolitano, J. [Temple Univ., Philadelphia, PA (United States); Neilson, R. [Drexel Univ., Philadelphia, PA (United States); Nelson, J. K. [College of William and Mary, Williamsburg, VA (United States); Nessi, M. [European Organization for Nuclear Research (CERN), Geneva (Switzerland); Norcini, D. [Yale Univ., New Haven, CT (United States); Nova, F. [Univ. of Texas, Austin, TX (United States); Nygren, D. R. [Univ. of Texas, Arlington, TX (United States); Gann, GDO [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Univ. of California, Berkeley, CA (United States); Palamara, O. [Illinois Inst. of Technology, Chicago, IL (United States); Parsa, Z. [Brookhaven National Lab. (BNL), Upton, NY (United States); Patterson, R. [California Inst. of Technology (CalTech), Pasadena, CA (United States); Paul, P. [Stony Brook Univ., NY (United States); Pocar, A. [Univ. of Massachusetts, Amherst, MA (United States); Qian, X. [Brookhaven National Lab. (BNL), Upton, NY (United States); Raaf, J. L. [Illinois Inst. of Technology, Chicago, IL (United States); Rameika, R. [Illinois Inst. of Technology, Chicago, IL (United States); Ranucci, G. [National Inst. of Nuclear Physics, Milano (Italy); Ray, H. [Univ. of Florida, Gainesville, FL (United States); Reyna, D. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Rich, G. C. [Triangle Universities Nuclear Lab., Durham, NC (United States); Rodrigues, P. [Univ. of Rochester, NY (United States); Romero, E. R. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Univ. of Tennessee, Knoxville, TN (United States); Rosero, R. [Brookhaven National Lab. (BNL), Upton, NY (United States); Rountree, S. D. [Virginia Polytechnic Inst. and State Univ. (Virginia Tech), Blacksburg, VA (United States); Rybolt, B. [Univ. of Tennessee, Knoxville, TN (United States); Sanchez, M. C. [Iowa State Univ., Ames, IA (United States); Santucci, G. [Stony Brook Univ., NY (United States); Schmitz, D. [Univ. of Chicago, IL (United States); Scholberg, K. [Duke Univ., Durham, NC (United States); Seckel, D. [Univ. of Delaware, Newark, DE (United States); Shaevitz, M. [Columbia Univ., New York, NY (United States); Shrock, R. [Stony Brook Univ., NY (United States); Smy, M. B. [Univ. of California, Irvine, CA (United States); Soderberg, M. [Syracuse Univ., NY (United States); Sonzogni, A. [Brookhaven National Lab. (BNL), Upton, NY (United States); Sousa, A. B. [Univ. of Cincinnati, OH (United States); Spitz, J. [Massachusetts Inst. of Technology (MIT), Cambridge, MA (United States); John, J. M. S. [Univ. of Cincinnati, OH (United States); Stewart, J. [Brookhaven National Lab. (BNL), Upton, NY (United States); Strait, J. B. [Illinois Inst. of Technology, Chicago, IL (United States); Sullivan, G. [Univ. of Maryland, College Park, MD (United States); Svoboda, R. [Univ. of California, Davis, CA (United States); Szelc, A. M. [Yale Univ., New Haven, CT (United States); Tayloe, R. [Indiana Univ., Bloomington, IN (United States); Thomson, M. A. [Univ. of Cambridge (United Kingdom); Toups, M. [Massachusetts Inst. of Technology (MIT), Cambridge, MA (United States); Vacheret, A. [Univ. of Oxford (United Kingdom); Vagins, M. [Univ. of California, Irvine, CA (United States); Water, R. G. V. D. [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Vogelaar, R. B. [Virginia Polytechnic Inst. and State Univ. (Virginia Tech), Blacksburg, VA (United States); Weber, M. [Bern (Switzerland); Weng, W. [Brookhaven National Lab. (BNL), Upton, NY (United States); Wetstein, M. [Univ. of Chicago, IL (United States); White, C. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); White, B. R. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Whitehead, L. [Univ. of Houston, TX (United States); Whittington, D. W. [Indiana Univ., Bloomington, IN (United States); Wilking, M. J. [Stony Brook Univ., NY (United States); Wilson, R. J. [Colorado State Univ., Fort Collins, CO (United States); Wilson, P. [Illinois Inst. of Technology, Chicago, IL (United States); Winklehner, D. [Massachusetts Inst. of Technology (MIT), Cambridge, MA (United States); Winn, D. R. [Fairfield Univ., CT (United States); Worcester, E. [Brookhaven National Lab. (BNL), Upton, NY (United States); Yang, L. [Univ. of Illinois, Urbana-Champaign, IL (United States); Yeh, M [Brookhaven National Lab. (BNL), Upton, NY (United States); Yokley, Z. W. [Virginia Polytechnic Inst. and State Univ. (Virginia Tech), Blacksburg, VA (United States); Yoo, J. [Illinois Inst. of Technology, Chicago, IL (United States); Yu, B. [Brookhaven National Lab. (BNL), Upton, NY (United States); Yu, J. [Univ. of Texas, Arlington, TX (United States); Zhang, C. [Brookhaven National Lab. (BNL), Upton, NY (United States)

    2017-04-03

    The US neutrino community gathered at the Workshop on the Intermediate Neutrino Program (WINP) at Brookhaven National Laboratory February 4-6, 2015 to explore opportunities in neutrino physics over the next five to ten years. Scientists from particle, astroparticle and nuclear physics participated in the workshop. The workshop examined promising opportunities for neutrino physics in the intermediate term, including possible new small to mid-scale experiments, US contributions to large experiments, upgrades to existing experiments, R&D plans and theory. The workshop was organized into two sets of parallel working group sessions, divided by physics topics and technology. Physics working groups covered topics on Sterile Neutrinos, Neutrino Mixing, Neutrino Interactions, Neutrino Properties and Astrophysical Neutrinos. Technology sessions were organized into Theory, Short-Baseline Accelerator Neutrinos, Reactor Neutrinos, Detector R&D and Source, Cyclotron and Meson Decay at Rest sessions.This report summarizes discussion and conclusions from the workshop.

  16. Intermediate energy data

    International Nuclear Information System (INIS)

    Koning, A.J.; Fukahori, T.; Hasegawa, A.

    1998-01-01

    Subgroup 13 (SG13) on Intermediate Energy Nuclear data was formed by NEA Nuclear Science Committee to solve common problems of these types of data for nuclear applications. An overview is presented in this final report of the present activities of SG13, including data needs, high-priority nuclear data request list (nuclides), compilation of experimental data, specialists meetings and benchmarks, data formats and data libraries. Some important accomplishments are summarized, and recommendations are presented. (R.P.)

  17. Manometria Anorretal no Divertículo de Reto Anorectal Manometry in Rectal Diverticulum

    Directory of Open Access Journals (Sweden)

    Carlos Augusto Real Martinez

    2010-03-01

    the rectum still has controversial aspects regarding its origin is congenital or acquired. Recently, alterations of the evacuative dynamic had been associated with the development of the disease. Nevertheless, until the present date, the manometric alterations in patients with diverticulum of the rectum were not studied. OBJECTIVE: The aim of the present study is to demonstrate the results of electromanometric study carried out in a patient with isolated diverticulum of the rectum. CASE REPORT: A man and a woman, 56 and 58 years-old, respectively, were submitted to colonoscopy, barium enema, endorectal ultrasound and magnetic resonance of the pelvis to diagnose and document the presence of diverticulum located in the rectum. The patients were submitted to manometry using catheter with eight-channel perfusion under water at 0.3 ml/min/channel, through pneumatic and hydraulic capillary infusion system. The anorectal manometry showed normally sphincter pressure profile both in rest and squeezes pressure state, and did not find sphincter asymmetries. The anorectal inhibition reflex was present with normal values and the sensibility and rectal complaisance were between the normal limits. The vector volume analysis did not show any significant alterations and it was concluded by normal manometric anorectal study. CONCLUSION: The anorectal manometry study did not demonstrate the existence of pressure disturbances in anorectal sphincter, enhancing the possibility that the rectal diverticulum can be congenital, developing at points where there is major weakness of the rectal wall.

  18. Gastrointestinal toxicity and its relation to dose distributions in the anorectal region of prostate cancer patients treated with radiotherapy

    International Nuclear Information System (INIS)

    Heemsbergen, Wilma D.; Hoogeman, Mischa S.; Hart, Guus A.M.; Lebesque, Joos V.; Koper, Peter C.M.

    2005-01-01

    Purpose: To study the correlations between the dose distributions in the anorectal region and late GI symptoms in patients treated for localized prostate carcinoma. Methods and materials: Data from a randomized study were analyzed. In this trial, patients were treated with either rectangular or conformal fields with a dose of 66 Gy. Data concerning GI symptoms were collected from questionnaires of 197 patients. The distributions of the anorectal region were projected on maps, and the dose parameters were calculated. The incidences of complaints were studied as a function of the dose-area parameters and clinical parameters, using a proportional hazard regression model. Finally, we tested a series of dose parameters originating from different parts of the anorectal region. Results: Analyzing the total region, only a statistically significant dose-area effect relation for bleeding was found (p < 0.01). Defining subareas, we found effect relations for bleeding, soiling, fecal incontinence, and mucus loss. For bleeding and mucus loss, the strongest correlation was found for the dose received by the upper 70-80% of the anorectal region (p < 0.01). For soiling and fecal incontinence, we found the strongest association with the dose to the lower 40-50% (p < 0.05). Conclusion: We found evidence that complaints originate from specific regions of the irradiated lower GI tract. Bleeding and mucus loss are probably related to irradiation of the upper part of the rectum. Soiling and fecal incontinence are more likely related to the dose to the anal canal and the lower part of the rectum

  19. Anorectal Function and Quality of Life in Patients With Early Stage Rectal Cancer Treated With Chemoradiation and Local Excision.

    Science.gov (United States)

    Lynn, Patricio B; Renfro, Lindsay A; Carrero, Xiomara W; Shi, Qian; Strombom, Paul L; Chow, Oliver; Garcia-Aguilar, Julio

    2017-05-01

    Little is known about anorectal function and quality of life after chemoradiation followed by local excision, which is an alternative to total mesorectal excision for selected patients with early rectal cancer. The purpose of this study was to prospectively assess anorectal function and health-related quality of life of patients with T2N0 rectal cancer who were treated with an alternative approach. This was a prospective, phase II trial. The study was multicentric (American College of Surgeons Oncology Group trial Z6041). Patients with stage cT2N0 rectal adenocarcinomas were treated with an oxaliplatin/capecitabine-based chemoradiation regimen followed by local excision. Anorectal function and quality of life were assessed at enrollment and 1 year postoperatively with the Fecal Incontinence Severity Index, Fecal Incontinence Quality of Life scale, and Functional Assessment of Cancer Therapy-Colorectal Questionnaire. Results were compared, and multivariable analysis was performed to identify predictors of outcome. Seventy-one patients (98%) were evaluated at enrollment and 66 (92%) at 1 year. Compared with baseline, no significant differences were found on Fecal Incontinence Severity Index scores at 1 year. Fecal Incontinence Quality of Life results were significantly worse in the lifestyle (p Cancer Therapy overall score, but the physical well-being subscale was significantly worse and emotional well-being was improved after surgery. Treatment with the original chemoradiation regimen predicted worse depression/self-perception and embarrassment scores in the Fecal Incontinence Quality of Life, and male sex was predictive of worse scores in the Functional Assessment of Cancer Therapy overall score and trial outcome index. Small sample size, relatively short follow-up, and absence of information before cancer diagnosis were study limitations. Chemoradiation followed by local excision had minimal impact on anorectal function 1 year after surgery. Overall quality of

  20. Management of complex anorectal fistulas with seton drainage plus partial fistulotomy and subsequent ligation of intersphincteric fistula tract (LIFT).

    Science.gov (United States)

    Schulze, B; Ho, Y-H

    2015-02-01

    Ligation of intersphincteric fistula tract (LIFT) is a relatively new technique in the treatment of complex anorectal fistulas. As it spares the anal sphincter, rates of post-operative incontinence may be lower when compared to conventional treatment. To date, there have not been enough reports of long-term fistula recurrence rates. We performed a long-term follow-up study of 75 patients who underwent LIFT following seton drainage and partial fistulotomy. Only patients with complex cryptogenic anorectal fistulas were included. After seton insertion and partial fistulotomy, the tract was reviewed at 4 months for the absence of anorectal sepsis. Patients then underwent LIFT in a day surgery setting. Operative time, complications, recurrences and incontinence were evaluated. Between May 2008 and June 2013, 75 patients [51 men, mean age 49.5 years, standard error of the mean (SEM) 1.4 years] were treated with a LIFT protocol. The mean operating time for LIFT was 13.2 min (SEM 1.5 min). Complications included minor bleeding, superficial wound dehiscence and perianal pain. At a mean follow-up of 14.6 months (SEM 1.7 months), there were nine (12 %) recurrences, diagnosed at a mean 9.2 months (SEM 2.7 months). They were treated with seton insertion followed by LIFT with biomesh or anorectal advancement flap, and there were no subsequent recurrences. Review of preoperative and post-operative continence scores revealed only one (1.3 %) patient with minor incontinence following LIFT. Recurrences were significantly related to fistulas with multiple tracts (p < 0.001). Our results suggest that the protocol of seton insertion and partial fistulotomy followed by LIFT is associated with a low recurrence rate comparing well with published results from studies involving other techniques and protocols for treating anal fistula.

  1. [Analysis in pulmonary ventilatory function from 100 patients with ano-rectal diseases caused by deficiency of qi].

    Science.gov (United States)

    Wang, W

    1999-03-01

    To explore the pathogenesis of ano-rectal diseases caused by deficiency of Qi, which is correlated with obstruction of pulmonary ventilation. The pulmonary ventilatory function was measured in 100 patients with the internal piles, the interno-external hemorrhoid and prolapse of rectum, the prolapse of anus was the principal symptom of them. Data from the 100 patients showed that 67% of them were diagnosed with the obstruction of pulmonary ventilation, the ratio was far less in the health control group. FEV 1.0 (mean +/- s) (2011.65 +/- 875) ml, MMF (1.84 +/- 1.24) L/s and PEF (2.34 +/- 1.51) L/s in male patients, (1551.54 +/- 514) ml, (1.57 +/- 0.62) L/s and (1.85 +/- 0.92) L/s in female patients, but those values were higher in the control than in the patients. The statistical analysis was performed and the difference was significant between patients and the control group (P < 0.01). The patients with ano-rectal diseases caused by deficiency of Qi accompanied with obstruction of pulmonary ventilation in different degree and varied sorts, it confirmed that the pathogenesis of ano-rectal diseases caused by deficiency of Qi is related with "sinking of pectoral Qi".

  2. Congenital anorectal atresia: MR imaging of late post-operative appearances in adult patients with anal incontinence

    International Nuclear Information System (INIS)

    Gartner, Louise; Peiris, Chand; Marshall, Michele; Taylor, Stuart A.; Halligan, Steve

    2013-01-01

    To describe the MR imaging findings in adults presenting with anal incontinence following pull-through perineoplasty for anorectal atresia. 15 adults (12 male, 3 female; age 22-52 years) with anal incontinence following a prior perineal pull-through procedure as an infant for anorectal atresia were identified retrospectively. MR imaging was performed using either an endoanal coil or body coil. MR images were reviewed by three observers who noted whether pelvic floor and sphincter muscles were present and, if so, whether they were thinned or not. Data were tabulated and raw frequencies determined. Images were unavailable for one patient, leaving 14 for analysis. Anal stenosis prevented endoanal coil placement in 5. The pull-through was anatomically correct in 12 (86 %) patients but was misdirected in 2. Thinned muscle was seen in 11 (79 %) patients. External sphincter thinning was commonest (present in 10 patients), with levator plate thinning least common (present in 4 patients). Only one patient had thinning of all muscle groups. MR imaging may be used to determine the extent and quality of residual pelvic floor and anal sphincter muscle in adults who have functional disability following pull-through perineoplasty for anorectal agenesis. (orig.)

  3. Fecal incontinence as consequence of anorectal surgeries and the physiotherapeutic approach

    Directory of Open Access Journals (Sweden)

    Kelly Cristina Duque Cortez

    2011-09-01

    Full Text Available Caused by sphincter injuries in various anorectal procedures, fecal incontinence (FI is a common complication in some patients undergoing coloproctology surgeries. Objective: Demonstrate the occurrence of FI as a result of anorectal surgeries, present the physiotherapy resources for the treatment of this disorder and, based on that, propose the inclusion of physiotherapy as a routine postoperative practice for these types of interventions. Materials and Methods: An integrative review of databases from the virtual health library (VHL and the Physiotherapy Evidence Database (PEDro published between 2000 and 2010, in English and Portuguese. Results: Thirteen articles (one cross-section cohort, two uncontrolled clinical trials and ten retrospective cohorts, with evidence level between 2C and 4C and published between 2001 and 2009, were selected; review articles were excluded. The review demonstrated that FI is an important complication of anorectal surgeries, causing major impacts on the patients' quality of life and that physiotherapy provides effective resources to treat this disorder. Conclusion: Further studies are recommended, in the form of systematic reviews, using a higher number of articles and better scientific evidences.Causada por lesões esfincterianas em variados procedimentos anorretais, a incontinência fecal (IF representa uma complicação presente em alguns indivíduos submetidos a cirurgias coloproctológicas. Objetivo: Evidenciar a ocorrência de IF como consequência de cirurgias anorretais e expor os recursos fisioterapêuticos no tratamento desta desordem e, com isso, propor a inclusão da fisioterapia como prática rotineira nos pós-operatórios desses tipos de intervenções. Materiais e Métodos: Revisão integrativa realizada a partir de pesquisas nos bancos de dados da biblioteca virtual em saúde - BVS - e do Physiotherapy Evidence Database - PEDro - publicados no período de 2000 a 2010, nos idiomas inglês e portugu

  4. Magnetic resonance imaging (MRI) of congenital cardiovascular malformations

    International Nuclear Information System (INIS)

    Sakakibara, Makoto; Kobayashi, Shirou; Imai, Hitoshi; Watanabe, Shigeru; Masuda, Yoshiaki; Inagaki, Yoshiaki; Morita, Huminori; Uematsu, Sadao; Arimizu, Noboru

    1986-01-01

    In order to determine the value of MRI in diagnosing congenital cardiovascular malformations, MR Images were obtained in 25 adult patients with congenital cardiovascular malformations. Gated MRI detected all of 13 atrial septal defects, and all of 4 ventricular septal defects, but ungated MRI detected none of 3 atrial septal defects. Other congenital cardiovascular malformations (2 with Ebstein's disease, 1 with Fallot's pentalogy, and 1 with Pulmonary stenosis) were well visualized. Vascular malformations (1 with Patent ducts arteriosus, 1 with Supravalvelar aortic stenosis, 1 with Coarctation of Aorta, 1 with Right Aortic Arch) were well visualized in all of 7 patients by ungated MRI. MRI was a valuable noninvasive method of diagnosing congenital heart disease. (author)

  5. Prostatic urethra malformation associated with retrograde ejaculation: a case report.

    Science.gov (United States)

    Zhao, Kai; Zhang, Jianzhong; Xu, Aiming; Zhang, Cheng; Wang, Zengjun

    2016-12-21

    Retrograde ejaculation can have anatomical, neurogenic, or pharmacological causes. Among these factors, malformation of the prostatic urethra is an uncommon cause. We describe a 29-year-old Han Chinese man with absence of his verumontanum combined with ejaculatory duct cysts, and no other cause for ejaculatory dysfunction. His verumontanum was replaced by a deep groove adjacent to his bladder neck, which could significantly influence bladder neck contraction. In addition, the large cysts in the ejaculatory duct could obstruct the anterior outlet of his prostatic urethra and prevent seminal fluid flow in an anterograde direction. There are few reports of retrograde ejaculation associated with congenital malformations of the posterior urethra. Malformations associated with bladder neck laxity and increased tone of the prostatic urethral outlet can contribute to retrograde ejaculation. Malformation of the prostatic urethra is an uncommon cause of retrograde ejaculation, and can be difficult to treat.

  6. Screening for congenital heart malformation in child health centres

    NARCIS (Netherlands)

    R.E. Juttmann (Rikard); J. Hess (Jakob); C.W.N. Looman (Caspar); G.J. van Oortmarssen (Gerrit); P.J. van der Maas (Paul)

    1998-01-01

    textabstractBACKGROUND: Although screening for congenital heart malformations is part of the child health care programme in several countries, there are very few published evaluations of these activities. This report is concerned with the evaluation of this screening at

  7. Epidermal Nevus Syndrome Associated with Brain Malformations and Medulloblastoma

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-01-01

    Full Text Available Researchers at Juntendo University and Tokyo Women’s Medical University, Japan; and University of California, San Francisco, Ca, report a male infant with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma.

  8. Posterior fossa malformations: main features and limits in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Department of Radiology, Paris (France)

    2010-06-15

    Posterior fossa (PF) malformations are commonly observed during prenatal screening. Their understanding requires knowledge of the main steps of PF development and knowledge of normal patterns in US and MR imaging. The vast majority of PF malformations can be strongly suspected by acquiring a midline sagittal slice and a transverse slice and by systematically scrutinizing the elements of the PF: cerebellar vermis, hemispheres, brainstem, fourth ventricle, PF fluid spaces and tentorium. Analysis of cerebellar echogenicity and biometry is also useful. This review explains how to approach the diagnosis of the main PF malformations by performing these two slices and answering six key questions about the elements of the PF. The main imaging characteristics of PF malformations are also reviewed. (orig.)

  9. Echography of congenital malformations of the central nervous system

    International Nuclear Information System (INIS)

    Toirac Romani, Carlos Andres; Salmon Cruzata, Acelia; Musle Acosta, Mirelvis; Rosales Fargie, Yamile; Dosouto Infante, Vivian

    2010-01-01

    A descriptive and prospective study was conducted in 173 pregnant women attended at the Provincial Department of Clinical Genetics of Santiago de Cuba, from January, 2000 to December, 2004, to identify congenital malformations of the central nervous system detected by means of echography. The most frequent malformation was the hydrocephaly, followed by the fusion defects of the spine, associated with the hydrocephaly and the absence of cranial cavity. There was a prevalence of altered alpha fetoprotein and of elevated amniotic fluid

  10. Screening for congenital heart malformations in child health centres

    OpenAIRE

    Juttmann, Rikard

    1999-01-01

    textabstractThe objective of this thesis is to clarify the effectiveness and the efficiency of screening for congenital heart malformations in Dutch child health centres and the possibilities to optimise this prevention programme. To this end the following main questions will be addressed. 1. Does screening for congenital heart malformations, as actually performed in Dutch child health centres, prevent adverse outcomes of these disorders in the short and long run? What would be the answer to ...

  11. Infertility, infertility treatment, and congenital malformations: Danish national birth cohort

    Science.gov (United States)

    Zhu, Jin Liang; Basso, Olga; Obel, Carsten; Bille, Camilla; Olsen, Jørn

    2006-01-01

    Objectives To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. Design Longitudinal study. Setting Danish national birth cohort. Participants Three groups of liveborn children and their mothers: 50 897 singletons and 1366 twins born of fertile couples (time to pregnancy ≤ 12 months), 5764 singletons and 100 twins born of infertile couples who conceived naturally (time to pregnancy > 12 months), and 4588 singletons and 1690 twins born after infertility treatment. Main outcome measures Prevalence of congenital malformations determined from hospital discharge diagnoses. Results Compared with singletons born of fertile couples, singletons born of infertile couples who conceived naturally or after treatment had a higher prevalence of congenital malformations—hazard ratios 1.20 (95% confidence interval 1.07 to 1.35) and 1.39 (1.23 to 1.57). The overall prevalence of congenital malformations increased with increasing time to pregnancy. When the analysis was restricted to singletons born of infertile couples, babies born after treatment had an increased prevalence of genital organ malformations (hazard ratio 2.32, 1.24 to 4.35) compared with babies conceived naturally. No significant differences existed in the overall prevalence of congenital malformations among twins. Conclusions Hormonal treatment for infertility may be related to the occurrence of malformations of genital organs, but our results suggest that the reported increased prevalence of congenital malformations seen in singletons born after assisted reproductive technology is partly due to the underlying infertility or its determinants. The association between untreated infertility and congenital malformations warrants further examination. PMID:16893903

  12. Aneurysmal malformation of the extrahepatic portal vein: a case report

    International Nuclear Information System (INIS)

    Lee, Jeong Min; Kang, Sung Soo; Kim, Chong Soo; Han, Hyeun Young

    1999-01-01

    Aneurysmal malformation of the portal vein is a rare entity. To our knowledge, only scattered reports of portal vein aneurysms appear in the literature in English, and there is no previously published report in Korean. We describe a case exhibiting aneurysmal malformation of the extrahepatic portal vein at the hepatic hilum ; the findings demonstrated by ultrasound, CT and angiography are discussed, a review of previously described cases is included

  13. Virtual reality: new method of teaching anorectal and pelvic floor anatomy.

    Science.gov (United States)

    Dobson, Howard D; Pearl, Russell K; Orsay, Charles P; Rasmussen, Mary; Evenhouse, Ray; Ai, Zhuming; Blew, Gregory; Dech, Fred; Edison, Marcia I; Silverstein, Jonathan C; Abcarian, Herand

    2003-03-01

    A clear understanding of the intricate spatial relationships among the structures of the pelvic floor, rectum, and anal canal is essential for the treatment of numerous pathologic conditions. Virtual-reality technology allows improved visualization of three-dimensional structures over conventional media because it supports stereoscopic-vision, viewer-centered perspective, large angles of view, and interactivity. We describe a novel virtual reality-based model designed to teach anorectal and pelvic floor anatomy, pathology, and surgery. A static physical model depicting the pelvic floor and anorectum was created and digitized at 1-mm intervals in a CT scanner. Multiple software programs were used along with endoscopic images to generate a realistic interactive computer model, which was designed to be viewed on a networked, interactive, virtual-reality display (CAVE or ImmersaDesk). A standard examination of ten basic anorectal and pelvic floor anatomy questions was administered to third-year (n = 6) and fourth-year (n = 7) surgical residents. A workshop using the Virtual Pelvic Floor Model was then given, and the standard examination was readministered so that it was possible to evaluate the effectiveness of the Digital Pelvic Floor Model as an educational instrument. Training on the Virtual Pelvic Floor Model produced substantial improvements in the overall average test scores for the two groups, with an overall increase of 41 percent (P = 0.001) and 21 percent (P = 0.0007) for third-year and fourth-year residents, respectively. Resident evaluations after the workshop also confirmed the effectiveness of understanding pelvic anatomy using the Virtual Pelvic Floor Model. This model provides an innovative interactive educational framework that allows educators to overcome some of the barriers to teaching surgical and endoscopic principles based on understanding highly complex three-dimensional anatomy. Using this collaborative, shared virtual-reality environment

  14. A comparative study of the anorectic and behavioral effects of fenproporex on male and female rats.

    Science.gov (United States)

    Mattei, R; Carlini, E A

    1996-08-01

    The anorectic and behavioral effects of fenproporex (Fenp, 10 mg/kg, ip) and methamphetamine (Met, 2.5 mg/kg, ip), a prototypical example of an amphetamine-like drug, were studied in male and female Wistar rats (5 and 3 months of age, respectively, at the beginning of the experiments) after acute (immediately after a single dose) or chronic treatment (after 60 days of administration). For the evaluation of the experimental parameters six groups of eight rats each were utilized for food intake and stereotyped behavior and six groups of nine rats each for body weight and motor activity. Similar anorectic effects (decreased food intake in grams: saline (Sal): 12.8 +/- 2.5, Met: 4.7 +/- 4.0, and Fenp: 4.4 +/- 20; decreased weight gain: Sal: 38 +/- 10, Met: 25 +/- 1.0, and Fenp: 27 +/- 3.0) were induced by both drugs in male rats. Female rats, however, required larger doses (20 mg/kg Fenp and 5.0 mg/kg Met) for a complete blockade of food intake. The behavioral tests were carried out 30, 60, 120, 180 and 300 min after drug administration and on day 1 and day 60 immediately after the treatment, for stereotypy and motor activity, respectively (male rats: Met: 3.8 +/- 0.3, Fenp: 6.0 +/- 0.9, and female rats: Met: 15.4 +/- 1.9, Fenp: 9.7 +/- 1.3). Though stereotyped behavior such as sniffing, continuous licking, and false bites was observed in all animals, this was more evident and prolonged in female rats. Both drugs also increased motor activity (male rats, acute treatment: Met: 608 +/- 419, Fenp: 677 +/- 354; chronic treatment: Met: 701 +/- 423, Fenp: 908 +/- 479; female rats, acute treatment: Met: 817 +/- 350, Fenp: 1177 +/- 282; chronic treatment: Met: 623 +/- 274, Fenp: 1511 +/- 573) with female rats once again showing greater sensitivity both after acute and chronic treatment. Our data indicate that fenproporex, like methamphetamine, has a stimulating effect on the central nervous system, indicating an action on the dopaminergic systems. These data further suggest

  15. The intermediate state in Patd

    African Journals Online (AJOL)

    ) Jesus had assumed. (concerning the 'intermediate state') as existing, anything which does not exist. Three basic things about the intermediate state emerge from the parable: (a) Jesus recognizes that at the moment of death, in ipso articulo.

  16. Angiographic treatment of the arteriovenous malformation occurred after caesarean section

    Directory of Open Access Journals (Sweden)

    Selim Büyükkurt

    2009-03-01

    Full Text Available INTRODUCTION: Uterine arteriovenous malformations are classified as acquired or congenital. Caesarean section which is performed more frequently on nowadays, uterine curettage and other uterine surgeries are the most common causes of the acquired arteriovenous malformations. CASE: Twenty-two years old woman delivered her second child by caesarean section, due to history of caesarean section, was admitted with complaint of profuse vaginal bleeding 15 days after the surgery. She demonstrated the clinical features of the hypovolemic shock. At first she treated with four units of red blood suspension, two units of fresh frozen plasma and rapid infusion of the fluids. On endometrial curettage only blood and coagulum were obtained. The bleeding could only be controlled by the internal pressure of the 18 F Foley catheter. Doppler analyze of the uterus revealed a vascular malformation signifying a turbulent flow pattern with low pressure and high flow rate. A unilateral uterine artery embolization was performed her and her menstruel cycles are resumed at the fifth month of the puerperium. DISCUSSION: The clinical presentation of the uterine arteriovenous malformations depends on the localization and the dimensions of the malformation. The uterine arteriovenous malformation should be kept in mind in cases of late occurrence vaginal bleeding unresponsive to the uterotonic medications, especially in a woman with previous history of uterine damage, such as curettage or caesarean section.

  17. Congenital Malformations in Neonates after irradiation of Rats During Pregnancy

    International Nuclear Information System (INIS)

    Abdel-Gawad, I.I.; Mohammad, M.H.M.

    2000-01-01

    Radiation is considered a teratogen during the whole period of embryonic development and fetal growth. However, the time of gestation at which irradiation takes place will affect the type of congenital malformation Induced. A study was carried out to observe various forms of congenital malformations induced after irradiation of pregnant rats to 1,2 and 3 Gy on the 9 th , 12 th and 15 th days of gestation. Various types of congenital malformations were observed in the neonates of irradiated animals as compared to controls. Most of the malformations were observed in neonates of animals irradiated with 2 and 3 Gy on the 12 th and 15 th days of gestation. This confirms that developmental anomalies occur mostly during the period of organ development. Other periods of gestation are less vulnerable to, induction of malformation after irradiation. Some representative photographs of the malformations induced such as penguin shape, absence of tail, low set ears, growth retardation and others are illustrated in the text

  18. Sincipital Encephaloceles: A Study of Associated Brain Malformations

    Directory of Open Access Journals (Sweden)

    Shashidhar Vedavyas Achar

    2016-01-01

    Full Text Available Objective: The aim of this study was to evaluate the associated intracranial malformations in patients with sincipital encephaloceles. Materials and Methods: A hospital-based cross-sectional study was conducted over 8 years from June 2007 to May 2015 on 28 patients. The patients were evaluated by either computed tomography or magnetic resonance imaging whichever was feasible. Encephaloceles were described with respect to their types, contents, and extensions. A note was made on the associated malformations with sincipital encephaloceles. Results: Fifty percent of the patients presented before the age of 3 years and both the sexes were affected equally. Nasofrontal encephalocele was the most common type seen in 13 patients (46.4%, and corpus callosal agenesis (12 patients was the most common associated malformation. Other malformations noted were arachnoid cyst (10 patients, hydrocephalus (7 patients, and agyria-pachygyria complex (2 patients. Conclusion: Capital Brain malformations are frequently encountered in children with sincipital encephaloceles. Detail radiological evaluation is necessary to plan treatment and also to prognosticate such rare malformations.

  19. Update on neuroimaging phenotypes of mid-hindbrain malformations

    Energy Technology Data Exchange (ETDEWEB)

    Jissendi-Tchofo, Patrice [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); CHU Saint-Pierre, Radiology Department, Pediatric Neuroradiology Section, Brussels (Belgium); Severino, Mariasavina [Istituto Giannina Gaslini, Neuroradiology Unit, Genoa (Italy); Nguema-Edzang, Beatrice; Toure, Cisse; Soto Ares, Gustavo [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); Barkovich, Anthony James [University of California, Neuroradiology Section, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States)

    2014-10-23

    Neuroimaging techniques including structural magnetic resonance imaging (MRI) and functional positron emission tomography (PET) are useful in categorizing various midbrain-hindbrain (MHB) malformations, both in allowing diagnosis and in helping to understand the developmental processes that were disturbed. Brain imaging phenotypes of numerous malformations are characteristic features that help in guiding the genetic testing in case of direct neuroimaging-genotype correlation or, at least, to differentiate among MHB malformations entities. The present review aims to provide the reader with an update of the use of neuroimaging applications in the fine analysis of MHB malformations, using a comprehensive, recently proposed developmental and genetic classification. We have performed an extensive systematic review of the literature, from the embryology main steps of MHB development through the malformations entities, with regard to their molecular and genetic basis, conventional MRI features, and other neuroimaging characteristics. We discuss disorders in which imaging features are distinctive and how these features reflect the structural and functional impairment of the brain. Recognition of specific MRI phenotypes, including advanced imaging features, is useful to recognize the MHB malformation entities, to suggest genetic investigations, and, eventually, to monitor the disease outcome after supportive therapies. (orig.)

  20. A Young Male with Spontaneous Ruptured Cerebral Arteriovenous Malformation (Case Report

    Directory of Open Access Journals (Sweden)

    Vitorino Modesto Santos

    2016-04-01

    Full Text Available Background: Cerebral arteriovenous malformation (AVM is considered a congenital condition characterized by arterial-venous connections in the absence of intermediate capillaries with circulatory and functional changes, inclusive on the cerebrospinal fluid (CSF dynamics. Case: A previously healthy young man with abrupt onset of intense headache followed by incoercible vomiting and generalized tonic-clonic seizures. On admission, he was in Glasgow scale IV with respiratory gasping, signs of decerebration and anisocoric mydriasis, and right paresis. Computed tomography showed left intraparenchymal hematoma and intraventricular blood. The abnormal vessels and blood clots were removed by neurosurgery. In early postoperative phase a large cerebrospinal fluid leak developed, and was aspirated and further controlled. The patient had respiratory complications, including pulmonary infection by Pseudomonas. Conclusions: After longstanding hospitalization, he was referred to other medical institution and home care. 

  1. Emergency treatment of violent trauma: clinical cases and surgical treatment of penetrating thoracoabdominal, perineal and anorectal trauma.

    Science.gov (United States)

    Zuccon, William; Paternollo, Roberto; Del Re, Luca; Cordovana, Andrea; De Murtas, Giovanni; Gaverini, Giacomo; Baffa, Giulia; Lunghi, Claudio

    2013-01-01

    The authors analyse clinical cases of penetrating thoracic, abdominal, perineal and anorectal injury and describe the traumatic event and type of lesion, the principles of surgical treatment, the complication rate and follow up. In the last 24 months, we analyzed 10 consecutive cases of penetrating thoracic and abdominal wounds [stab wound (n=7), with evisceration (n=4), gunshot wound (n=1)], and penetrating perineal and anorectal wounds (impalement n=4). In addition, we report an unusual case of neck injury from a stab wound. All the patients underwent emergency surgery for the lesions reported. In 7 cases of perforating vulnerant thoracoabdominal trauma from stab wounds there was hemoperitoneum due to bleeding from the abdominal wall (n=3), the omentum (n=1), the vena cava (n=1) and the liver (n=2). Evisceration of the omentum was observed in 4 cases. In 2 cases laparoscopy was performed. In one case laparotomy and thoracoscopy was performed. In a patient with an abdominoperineal gunshot wound, exploration was extraperitoneal. The 4 cases of perineal and anorectal impalement were treated with primary reconstruction, while in one case a laparotomy was needed to suture the rectum and fashion a temporary colostomy. In one case of anorectal injury rehabilitation resulted in a gradual improvement of fecal continence, while in the patient with the colostomy follow up at 2 months was scheduled to plan colostomy closure. Based on the our clinical experience and the literature, in penetrating abdominal trauma laparotomy may be required if patients are hemodynamically unstable (or in hemorrhagic shock), in patients with evisceration and peritonitis, or for exploration of penetrating thoracoabdominal and epigastric lesions. In anterior injuries of the abdominal wall from gunshot or stab wounds, laparotomy is indicated when there is peritoneal violation and significant intraperitoneal damage. In patients with actively bleeding wounds of the abdominal wall muscles minimal

  2. [Intermediate energy nuclear physics

    International Nuclear Information System (INIS)

    1989-01-01

    This report summarizes work in experimental Intermediate Energy Nuclear Physics carried out between October 1, 1988 and October 1, 1989 at the Nuclear Physics Laboratory of the University of Colorado, Boulder, under grant DE-FG02-86ER-40269 with the United States Department of Energy. The experimental program is very broadly based, including pion-nucleon studies at TRIUMF, inelastic pion scattering and charge exchange reactions at LAMPF, and nucleon charge exchange at LAMPF/WNR. In addition, a number of other topics related to accelerator physics are described in this report

  3. The presentation and management of complex female genital malformations.

    Science.gov (United States)

    Acién, Pedro; Acién, Maribel

    2016-01-01

    Common uterine anomalies are important owing to their impact on fertility, and complex mesonephric anomalies and certain Müllerian malformations are particularly important because they cause serious clinical symptoms and affect woman's quality of life, in addition to creating fertility problems. In these cases of complex female genital tract malformations, a correct diagnosis is essential to avoid inappropriate and/or unnecessary surgery. Therefore, acquiring and applying the appropriate embryological knowledge, management and therapy is a challenge for gynaecologists. Here, we considered complex malformations to be obstructive anomalies and/or those associated with cloacal and urogenital sinus anomalies, urinary and/or extragenital anomalies, or other clinical implications or symptoms creating a difficult differential diagnosis. A diligent and comprehensive search of PubMed and Scopus was performed for all studies published from 1 January 2011 to 15 April 2015 (then updated up to September 2015) using the following search terms: 'management' in combination with either 'female genital malformations' or 'female genital tract anomalies' or 'Müllerian anomalies'. The MeSH terms 'renal agenesis', 'hydrocolpos', 'obstructed hemivagina' 'cervicovaginal agenesis or atresia', 'vaginal agenesis or atresia', 'Herlyn-Werner-Wunderlich syndrome', 'uterine duplication' and 'cloacal anomalies' were also used to compile a list of all publications containing these terms since 2011. The basic embryological considerations for understanding female genitourinary malformations were also revealed. Based on our experience and the updated literature review, we studied the definition and classification of the complex malformations, and we analysed the clinical presentation and different therapeutic strategies for each anomaly, including the embryological and clinical classification of female genitourinary malformations. From 755 search retrieved references, 230 articles were analysed and

  4. Neuroimaging of malformation of cortical development

    International Nuclear Information System (INIS)

    Zlatareva, D.; Hadjidekov, V.; Tournev, I.; Rossi, A.

    2012-01-01

    Malformations of cortical development (MCD) are heterogeneous group of disease which result from disruption of 3 main stages of cortical development.The common clinical presentation is refractory epilepsy and or developmental delay. The aim of this paper is to describe and analyze magnetic resonance (MR) findings and to present protocol for examination. We analyze MR findings in 17 patients with MCD. The average age was 12,1 year (from 2 months - 57 years). The main indications from reference physician are epilepsy and developmental delay. In 12 patients 1.5T MR was performed, and in 5 - 0.5T. Subependymal heterotopias was found in 6 patients, focal cortical dysplasia - 3. polymicrogyria - 3, schizencephaly - 2, hemimegalencephaly -1, lizencephaly -1, tuberous sclerosis -1. The most common MCD are heterotopias, focal cortical dysplasia, polymicrogyria. schizencephaiy, pachygyria and lizencephaly. In our study the number of patients is not big enough to make a conclusion about frequency of the forms of MCD and our goal is to analyze MR findings which are not well studied in our country. MRI is the method of choice for diagnosis of MCD. The protocol should be different from routine brain protocol to interpret the images with good quality and not miss the pathology. Knowledge of MR findings in MCD would help for genetic counselling in some cases or can predict prognosis in some patients. (authors)

  5. Endovascular treatment of intracranial arteriovenous malformations

    International Nuclear Information System (INIS)

    Seruga, T.

    2002-01-01

    Background. The aim of the study was the introduction of endovascular interventional treatment of cerebral arteriovenous malformations (AVM) with superselective embolization with cyanoacrylic polymerisation agent. Case reports. Endovascular embolization was performed in five patients with cerebral AVMs. Three of these patients were presented with intracerebral haemathomas whereas in other two patients, cerebral AVM was an incidental finding. Superselective catheterisation of AVMs was performed and acrylic glue was selectively injected into the nidus. Conclusions. Control cerebral angiography after embolization of AVM showed different results. In one patient, AVM was totally occluded after three sessions and in second case AVM was occluded in a single session. The rate of occlusion in other two cases was estimated between 70% in 80%. Both of these two patients underwent surgery. One patient is still in the process of treatment. Endovascular treatment of cerebral AVMs with superselective embolization with liquid cyanoacrilyc adhesive agent is a safe and effective alternative treatment paths next to microsurgery. Endovascular treatment in combination with radiosurgery could become the method of choice in the therapy of cerebral AVMs in the future. (author)

  6. Sports participation with Chiari I malformation.

    Science.gov (United States)

    Strahle, Jennifer; Geh, Ndi; Selzer, Béla J; Bower, Regina; Himedan, Mai; Strahle, MaryKathryn; Wetjen, Nicholas M; Muraszko, Karin M; Garton, Hugh J L; Maher, Cormac O

    2016-04-01

    OBJECT There is currently no consensus on the safety of sports participation for patients with Chiari I malformation (CM-I). The authors' goal was to define the risk of sports participation for children with the imaging finding of CM-I. METHODS A prospective survey was administered to 503 CM-I patients at 2 sites over a 46-month period. Data were gathered on imaging characteristics, treatment, sports participation, and any sport-related injuries. Additionally, 81 patients completed at least 1 subsequent survey following their initial entry into the registry and were included in a prospective group, with a mean prospective follow-up period of 11 months. RESULTS Of the 503 CM-I patients, 328 participated in sports for a cumulative duration of 4641 seasons; 205 of these patients participated in contact sports. There were no serious or catastrophic neurological injuries. One patient had temporary extremity paresthesias that resolved within hours, and this was not definitely considered to be related to the CM-I. In the prospective cohort, there were no permanent neurological injuries. CONCLUSIONS No permanent or catastrophic neurological injuries were observed in CM-I patients participating in athletic activities. The authors believe that the risk of such injuries is low and that, in most cases, sports participation by children with CM-I is safe.

  7. Transcatheter coil embolisation of pulmonary arteriovenous malformations

    International Nuclear Information System (INIS)

    Wingen, M.; Guenther, R.W.

    2001-01-01

    Evaluation of technical success, complications and long-term results of transcatheter coil embolisation in pulmonary arteriovenous malformations (pAVMs). Material and Methods: Transcatheter embolisations of 46 pAVMs in 14 patients were analysed retrospectively, and, 5 years after treatment, the patients were interviewed by telefone concerning persistent symptoms and complications. Main symptoms before embolisation were dyspnoe (86%), hypoxaemia (100%), cerebral ischemia (21%), and hemoptysis (14%); 11 patients (79%) suffered from hereditary hemorrhagic telangiectasia. Results: Embolisation with an average of 3,9 coils (min. 1, max. 19 coils) per pAVM yielded technical success in all cases. Only two minor complications, transitory pleuritis and a small lung infarction were observed. On follow up examination after 5 years either no residual complaints or substantial improvement of dyspnoe were reported; no patient suffered from neurologic or hemorrhagic complications after the embolisation. Conclusion: Transcatheter embolisation is a safe and minimally invasive therapy for pAVMs and has rightfully replaced surgical resection as the therapy of choice. (orig.) [de

  8. Pulmonary arteriovenous malformation in cryptogenic liver

    International Nuclear Information System (INIS)

    Afzal, N.

    2013-01-01

    The cause in 10 - 20% cases of liver cirrhosis (LC) cannot be elucidated, and are thus termed cryptogenic. Pulmonary arteriovenous malformations (PAVMs) are relatively rare, but the most common anomaly involving the pulmonary tree. Although the rare correlation between LC and PAVM is well-known, there have been no reports of PAVMs occurring in cryptogenic LC. We report a case of PAVM that occurred in cryptogenic liver cirrhosis in a 3 years old male child. The child presented with complaints of malena, hematemesis and variceal bleed. The examination revealed a child with respiratory distress, irritability, tachycardia, clubbing and abdominal distention. He was worked up for recurrent variceal bleeding secondary to portal hypertension but the oxygen saturation during hospital stay kept deteriorating. The diagnosis of hepatopulmonary syndrome as the cause of persistent hypoxemia in the absence of other cardio-pulmonary causes was then made by enhanced echocardiogram using agitated saline. He improved significantly after liver transplantation performed abroad. At a 6 months follow-up, the child was stable with no evidence of intrapulmonary shunting on repeat echo. (author)

  9. Cerebellar malformations alter regional cerebral development.

    Science.gov (United States)

    Bolduc, Marie-Eve; Du Plessis, Adre J; Evans, Alan; Guizard, Nicolas; Zhang, Xun; Robertson, Richard L; Limperopoulos, Catherine

    2011-12-01

    The aim of this study was to compare total and regional cerebral volumes in children with isolated cerebellar malformations (CBMs) with those in typically developing children, and to examine the extent to which cerebellar volumetric reductions are associated with total and regional cerebral volumes. This is a case-control study of children diagnosed with isolated CBMs. Each child was matched on age and sex to two typically developing children. Using advanced three-dimensional volumetric magnetic resonance imaging, the cerebrum was segmented into tissue classes and partitioned into eight regions. Analysis of variance was used to compare cerebral volumes between children with CBMs and control children, and linear regressions to examine the impact of cerebellar volume reduction on cerebral volumes. Magnetic resonance imaging was performed at a mean age of 27 months in 20 children (10 males, 10 females) with CBMs and 40 typically developing children. Children with CBMs showed significantly smaller deep grey matter nuclei (p developing children. Greater cerebellar volumetric reduction in children with CBMs was associated with decreased total cerebral volume and deep grey matter nuclei (p = 0.02), subgenual white/grey matter (p = 0.001), midtemporal white (p = 0.02) and grey matter (p = 0.01), and parieto-occipital grey matter (p = 0.004). CBMs are associated with impaired regional cerebral growth, suggesting deactivation of principal cerebello-cerebral pathways. © The Authors. Developmental Medicine & Child Neurology © 2011 Mac Keith Press.

  10. Arteriovenous malformations of the cervical spinal cord

    International Nuclear Information System (INIS)

    Nagasawa, Shiro; Yoshida, Shinzo; Ishikawa, Masatsune; Yonekawa, Yasuhiro; Handa, Hajime

    1984-01-01

    Arteriovenous malformation (AVM) of the cervical spinal cord has been known to constitute 5-13% of all spinal AVMs. In contrast to the AVMs located in thoracic or thoraco-lumbar regions, cervical AVM has several characteristic features such as preponderance in younger generation, high incidence of subarachnoid hemorrhage, intramedullary location of the nidus usually fed by the anterior spinal arterial system. We reported three cases of cervical AVMs, which located intramedullary at the levels of C 4 -C 6 , C 1 -C 4 and C 1 -C 2 , respectively. Although selective angiography (vertebral artery, thyrocervical artery, costocervical artery) was essential for the diagnosis of these lesions, computerized tomographic (CT) study with both intrathecal injection of metrizamide and intravenous infusion of contrast material (dynamic and static study) was found to be extremely advantageous in detecting the topography of AVMs in the concerned horizontal planes of the spinal cord. Removal of AVM was given up in one case because of its possible involvement of the anterior spinal artery and central artery shown by CT scan. Removal of AVMs were performed in other two cases. A lateral approach was tried in one case with the AVM located in C 1 -C 2 level, in which CT scan revealed not only an intramedullary but the associated extramedullary AVM in ventrolateral surface of the spinal cord. This operative approach was found to involve less bone removal and markedly reduce spinal cord manipulation necessary to deal with ventrally situated high cervical lesions, compared with a posterior approach with laminectomy. (author)

  11. Ethanol embolization of auricular arteriovenous malformations

    International Nuclear Information System (INIS)

    Fan Xindong; Zheng Lianzhou; Yi Hongying; Su Lixin; Zheng Jiawei

    2009-01-01

    Objective: To present the authors' initial experience of treating auricular arteriovenous malformations(AVMs) with ethanol embolization and to assess the clinical effectiveness of this therapeutic method. Methods: Twenty-two patients with AVMs were enrolled in this study. Through local puncturing or super-selective catheterization the absolute ethanol,or diluted alcohol (based on the pattern of the AVMs), was manually injected into the abnormal vascular plexus of the auricular lesion. The clinical results were estimated with physical examination or angiography at intervals of 3-4 month, and telephone questionnaire was made at monthly intervals for all patients. Results: Thirty-eight ethanol embolization procedures were performed, the amount of ethanol used during the procedure ranged from 4 ml to 65 ml. After the treatment the clinical symptoms were improved, which were manifested as healing of the ulceration, stop of bleeding, disappearing or alleviation of tinnitus. Angiographic examination showed that the abnormal vascular lesion was completely vanished in 9 cases, decreased by 50%-75% in 8 cases and decreased less than 50% in remaining 5 cases. The common complications included irreversible local necrosis and vesiculation. Conclusion: For the treatment of auricular AVMs ethanol embolization is an effective and safe method,which might become the therapy of first choice. (authors)

  12. Ethanol embolization of auricular arteriovenous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Xindong, Fan; Lianzhou, Zheng [Department of Interventional Radiology, the Ninth People' s Hospital, School of Medicine, Shanghai Jiaotong Univ., Shanghai (China); Hongying, Yi; Lixin, Su; Jiawei, Zheng

    2009-11-15

    Objective: To present the authors' initial experience of treating auricular arteriovenous malformations(AVMs) with ethanol embolization and to assess the clinical effectiveness of this therapeutic method. Methods: Twenty-two patients with AVMs were enrolled in this study. Through local puncturing or super-selective catheterization the absolute ethanol,or diluted alcohol (based on the pattern of the AVMs), was manually injected into the abnormal vascular plexus of the auricular lesion. The clinical results were estimated with physical examination or angiography at intervals of 3-4 month, and telephone questionnaire was made at monthly intervals for all patients. Results: Thirty-eight ethanol embolization procedures were performed, the amount of ethanol used during the procedure ranged from 4 ml to 65 ml. After the treatment the clinical symptoms were improved, which were manifested as healing of the ulceration, stop of bleeding, disappearing or alleviation of tinnitus. Angiographic examination showed that the abnormal vascular lesion was completely vanished in 9 cases, decreased by 50%-75% in 8 cases and decreased less than 50% in remaining 5 cases. The common complications included irreversible local necrosis and vesiculation. Conclusion: For the treatment of auricular AVMs ethanol embolization is an effective and safe method,which might become the therapy of first choice. (authors)

  13. Imaging of arteriovenous malformation following stereotactic radiosurgery

    International Nuclear Information System (INIS)

    Tranchida, J.V.; Mehall, C.J.; Slovis, T.L.; Lis-Planells, M.

    1997-01-01

    Background. Stereotactic radiosurgery allows for a high dose of focused radiation to be delivered to a small lesion such as an arteriovenous malformation (AVM). The clinical change and brain response over time to this localized high-dose radiation can be quite striking. Objective. The objective of this study to describe and analyse the imaging changes following radiotherapy for AVMs. Materials and methods. The clinical presentation and the imaging changes following radiotherapy in two patients were studied over the course of 1-2 years. Results. The imaging findings include diffuse low attenuation and contrast enhancement on CT. High-signal lesions were apparent on T2-weighted MR images with prominent contrast enhancement on T1-weighted images. Ring enhancement occurred over time. While new changes appeared over 12 months, these changes diminished during the second year. Conclusion. Radiotherapy induces inflammatory changes that are generally reversible but can lead to parenchymal destruction. These imaging changes are often nonspecific and therefore must be interpreted in light of clinical symptomatology and the time course since treatment. These patients should receive routine MR imaging within 3 months after radiosurgery with follow-up imaging at 6, 12, and 18 months. (orig.). With 8 figs

  14. Prostate biopsy after ano-rectal resection: value of CT-guided trans-gluteal biopsy

    International Nuclear Information System (INIS)

    Cantwell, Colin P.; Hahn, Peter F.; Gervais, Debra A.; Mueller, Peter R.

    2008-01-01

    We describe our single-institutional experience with computed tomography (CT)-guided percutaneous transgluteal biopsy of the prostate in patients in whom transrectal ultrasound-guided biopsy is precluded by prior ano-rectal resection. Between March 1995 and April 2007, 22 patients had 34 prostate biopsies (mean age 68; mean PSA 29 ng/ml; mean follow-up 6.1 years). The charts of patients who had transgluteal biopsy were reviewed for demographic, complications and pathology. Ninety-five percent (21/22) of primary biopsies were diagnostic. Of the 21 diagnostic biopsies, 11 were positive for prostate cancer and ten were definitive benign samples. Seventy-three percent (8/11) of the patients had progressive PSA elevation that mandated 11 further prostate biopsies. Six patients had a second biopsy, one patient had a third and one patient had a fourth biopsy. Among patients who had serial biopsies, 38% (3/8) had prostate cancer. No complications or death occurred. A malignant biopsy was not significantly associated with core number (P = 0.58) or a high PSA level (P 0.15). CT-guided transgluteal biopsy of the prostate is safe and effective. (orig.)

  15. The daidzein- and estradiol- induced anorectic action in CCK or leptin receptor deficiency rats.

    Science.gov (United States)

    Fujitani, Mina; Mizushige, Takafumi; Bhattarai, Keshab; Iwahara, Asami; Aida, Ryojiro; Kishida, Taro

    2015-01-01

    We investigated the effect of daidzein feeding and estradiol treatment on food intake in cholecystokinin-1 receptor (CCK1R) deficiency, leptin receptor (ObRb) deficiency rats and their wild-type rats. These rats underwent an ovariectomy or a sham operation. For the 5 week experiment, each rat was divided in three groups: control, daidzein (150 mg/kg diet), and estradiol (4.2 μg/rat/day) groups. In both CCK1R+ and CCK1R- rats, daidzein feeding and estradiol treatment significantly decreased food intake. Daidzein feeding significantly reduced food intake in ovariectomized ObRb- rats, although not in ObRb+ rats. Estradiol treatment significantly lowered food intake in ovariectomized ObRb+ and ObRb- rats. In the ovariectomized rats, estradiol treatment significantly increases uterine weight, while daidzein feeding did not change it, suggesting that daidzein might have no or weak estrogenic effect in our experiment. These results suggest that CCK1R and ObRb signalings were not essential for the daidzein- and estradiol-induced anorectic action.

  16. Should anorectal ultrasonography be included as a diagnostic tool for chronic anal pain?

    Directory of Open Access Journals (Sweden)

    M. J. García-Montes

    Full Text Available Objective: to assess the efficiency of endorectal ultrasound (ERUS in the study of chronic idiopathic anal pain (CIAP. Material and method: this is a prospective and descriptive study in which 40 patients, 18 men and 22 women with an average of 47 years, were included. They had chronic anal pain of at least 3 months' duration. A complete colonoscopy was performed in all patients, which found no abnormalities to explain clinical symptoms. Patients with anal fissure and internal hemorrhoids of any degree, perianal suppurative processes, and pelvic surgery were excluded from the study. An ALOKA ProSound SSD-4000 ultrasound console attached to a multifrequency radial transductor ASU-67 (7.5 and 10 MHz was used. Results: one patient could not tolerate the examination. In 8 patients (20% of cases alterations were detected during ultrasonography: in 4 patients (10% of the cases; 1 man and 3 women internal anal sphincter (IAS hypertrophy, and in 5 patients (4 women and 1 man a torn sphincter complex. A tear in the upper IAS canal and hypertrophy of the middle anal canal were observed in one patient (1 woman. Conclusions: ERUS is a simple, economic and useful test to study anorectal pathologies. Although in most studied cases no damage to the anal canal or rectal wall was detected, in a considerable number of patients we observed a thickening of the IAS, a probable cause of anal pain. Therefore, we understand that ERUS should be included in the study of CIAP.

  17. Y-duplication of the male urethra: use of anterior anorectal wall for posterior urethral lengthening.

    Science.gov (United States)

    Sinha, S; Sen, S; Chacko, J; Thomas, G; Karl, S; Mathai, J

    2006-06-01

    We have approached two patients with Y-duplication of the male urethra by a new two-staged technique to provide better results. A strip of anterior anorectal wall in continuity with the posterior urethra was used for posterior urethral lengthening and a tubed pedicled prepucial flap was used to reconstruct the anterior urethra without using the native urethra. This was done under a covering colostomy. After a gap of 6 months to allow for healing of the anorectum and to ensure adequate functioning of the perineal neourethra, second stage reconstruction was done using buried scrotal tube for the mid urethra along with colostomy closure. On follow-up at 8 and 12 months, respectively, both children were well with no stricture or fistula. There was normal anal continence and no stenosis. This technique tackles the problem in Y-duplication of the male urethra of lengthening the posterior urethral channel, which is often difficult to bring to the anterior half of the perineum especially if the opening is high up in the anorectum (case 2).

  18. The anorectic effect of GLP-1 in rats is nutrient dependent.

    Directory of Open Access Journals (Sweden)

    Darleen Sandoval

    Full Text Available GLP-1-induced insulin secretion from the β-cell is dependent upon glucose availability. The purpose of the current study was to determine whether CNS GLP-1 signaling is also glucose-dependent. We found that fasting blunted the ability of 3(rd cerebroventricularly (i3vt-administered GLP-1 to reduce food intake. However, fasted animals maintained the anorexic response to melanotan II, a melanocortin receptor agonist, indicating a specific effect of fasting on GLP-1 action. We also found that i3vt administration of leptin, which is also decreased with fasting, was not able to potentiate GLP-1 action in fasted animals. However, we did find that CNS glucose sensing is important in GLP-1 action. Specifically, we found that i3vt injection of 2DG, a drug that blocks cellular glucose utilization, and AICAR which activates AMPK, both blocked GLP-1-induced reductions in food intake. To examine the role of glucokinase, an important CNS glucose sensor, we studied glucokinase-heterozygous knockout mice, but found that they responded normally to peripherally administered GLP-1 and exendin-4. Interestingly, oral, but not i3vt or IP glucose potentiated GLP-1's anorectic action. Thus, CNS and peripheral fuel sensing are both important in GLP-1-induced reductions in food intake.

  19. Should anorectal ultrasonography be included as a diagnostic tool for chronic anal pain?

    Science.gov (United States)

    García-Montes, M J; Argüelles-Arias, Federico; Jiménez-Contreras, S; Sánchez-Gey, S; Pellicer-Bautista, F; Herrerías-Gutiérrez, J M

    2010-01-01

    To assess the efficiency of endorectal ultrasound (ERUS) in the study of chronic idiopathic anal pain (CIAP). This is a prospective and descriptive study in which 40 patients, 18 men and 22 women with an average of 47 years, were included. They had chronic anal pain of at least 3 months duration. A complete colonoscopy was performed in all patients, which found no abnormalities to explain clinical symptoms. Patients with anal fissure and internal hemorrhoids of any degree, perianal suppurative processes, and pelvic surgery were excluded from the study. An ALOKA ProSound SSD-4000 ultrasound console attached to a multifrequency radial transductor ASU-67 (7.5 and 10 MHz) was used. One patient could not tolerate the examination. In 8 patients (20% of cases) alterations were detected during ultrasonography: in 4 patients (10% of the cases; 1 man and 3 women) internal anal sphincter (IAS) hypertrophy, and in 5 patients (4 women and 1 man) a torn sphincter complex. A tear in the upper IAS canal and hypertrophy of the middle anal canal were observed in one patient (1 woman). ERUS is a simple, economic and useful test to study anorectal pathologies. Although in most studied cases no damage to the anal canal or rectal wall was detected, in a considerable number of patients we observed a thickening of the IAS, a probable cause of anal pain. Therefore, we understand that ERUS should be included in the study of CIAP.

  20. [Post-operative analgesia in case of ano-rectal diseases].

    Science.gov (United States)

    Rossitto, Maurizio; Pantè, Sebastiano; Manfrè, Antonino; Ciccolo, Antonio

    2009-01-01

    The aim of the study was that to evaluate the post-operative pain in case of ano-rectal diseases wether treated by ketorolac, or buprenorphine or tramadol. The intensity of post-operative pain was evaluated in 60 patients with hemorrhoidal diseases, fistulae, abscesses and anal neoplasms, divided into three homogenous groups and treated with intramuscular ketorolac (Group I), transdermal buprenorphine (Group II) and tramadol in elastomeric pump (Group III). The average index of the visual analogue scale, as mean to evaluate the intensity of the post-operative pain, was 1,85 in the first group, 1,20 in the second one and 1,40 in the third group. In patients treated with transdermal buprenorphine or with tramadol in elastomeric pump there has been a more quick psycho-physical recovery than in those treated with ketorolac; the management of elastomeric pump represents however for patients cause of concern while the transdermal system is a kind of rational and comfortable way of treatment of the pain, with the advantage of being non-invasive. Better compliance and lower operating costs have given the preference to the use of transdermal buprenorphine for the treatment of diseases of the post-operative pain in the diseases of the anal canal.

  1. Detecting congenital malformations - Lessons learned from the Mpepu study, Botswana.

    Directory of Open Access Journals (Sweden)

    Gbolahan Ajibola

    Full Text Available A large and increasing number of HIV-infected women are conceiving on antiretroviral treatment (ART. While most antiretrovirals are considered safe in pregnancy, monitoring for rare pregnancy and infant adverse outcomes is warranted.We conducted a retrospective secondary analysis nested within a clinical trial of infant cotrimoxazole vs. placebo prophylaxis in Botswana (the Mpepu Study. Infants were examined at birth, and at least every 3 months through 18 months of age. Abnormal physical findings and diagnostic testing revealing malformations were documented. Post hoc, a geneticist classified all reported malformations based on available documentation. Structural malformations with surgical, medical or cosmetic importance were classified as major malformations. We present a descriptive analysis of identified malformations.Between 2011 and 2014, 2,933 HIV-infected women who enrolled in the Mpepu study delivered 2,971 live-born infants. Study staff conducted 2,944 (99% newborn exams. One thousand eighty-eight (38% women were taking ART at conception; 1,147 (40% started ART during pregnancy; 442 (15% received zidovudine monotherapy; and 223 (7% received no antiretroviral during pregnancy. Of 33 reported anomalies, 25 (76% met congenital malformations criteria, 10 (30% were classified as major malformations, 4 (40% of which were identified after the birth exam.Our results highlight the importance of staff training on identification of congenital malformations, programmatic monitoring beyond the birth examination and the value of geneticist involvement in the malformations classification process in resource-limited settings. These elements will be important to fully define antiretroviral drug safety in pregnancy.Surveillance systems for monitoring the safety of antiretroviral use during pregnancy among HIV-infected women in resource-limited setting are lacking. The World Health Organization's published programmatic recommendations for such

  2. Treatment of arteriovenous malformations with stereotactic radiosurgery employing both magnetic resonance angiography and standard angiography as a database

    International Nuclear Information System (INIS)

    Petereit, D.; Mehta, M.; Turski, P.; Levin, A.; Strother, C.; Mistretta, C.; Mackie, R.; Gehring, M.; Kubsad, S.; Kinsella, T.

    1993-01-01

    Twenty-one arteriovenous malformations were prospectively evaluated using magnetic resonance angiography, compare it to stereotactic angiography, employ magnetic resonance angiography in follow-up, and semiquanitfy flow. A correlative evaluation between flow and response to stereotactic radiosurgery was carried out. Phase contrast angiograms were obtained at flow velocities of 400, 200, 100, 60 and 20 cm/sec. The fractionated velocities provided images that selectively demonstrated the arterial and venous components of the arteriovenous malformations. Qualitative assessment of the velocity within the arteriovenous malformations and the presence of fistulae were also determined by multiple velocity images. In addition, 3-dimensional time-of-flight magnetic resonance angiograms were obtained to define the exact size and shape of the nidus. This technique also permitted evaluation of the nidus and feeding arteries for the the presence of low flow aneurysms. Correlation between the two imaging modalities was carried out by subjective and semiquantitative estimation of flow velocity and estimation of nidus size. The following velocity parameters were employed: fast, intermediate, slow, and none. Early analysis suggests that slower flowing arteriovenous malformations may obliterate faster after stereotactic radiosurgery an flow parameters should be employed to predict response. In conclusion, magnetic resonance angiography permits semiquantitative flow velocity assessment and may therefore be superior to stereotactic angiography. An additional advantage of magnetic resonance angiography is the generation of serial transverse images which can replace the conventional CT scan employed for stereotactic radiosurgery treatment planning. A single diagnostic test may therefore be used for diagnosis, radiosurgical treatment planning, follow-up, and treatment selection by identifying patients likely to respond early to radiosurgical management

  3. [Diagnostic value of high-resolution computed tomography imaging in congenital inner ear malformations].

    Science.gov (United States)

    Sun, Xiaowei; Ding, Yuanping; Zhang, Jianji; Chen, Ying; Xu, Anting; Dou, Fenfen; Zhang, Zihe

    2007-02-01

    To observe the inner ear structure with volume rendering (VR) reconstruction and to evaluate the role of high-resolution computed tomography (HRCT) in congenital inner ear malformations. HRCT scanning was performed in 10 patients (20 ears) without ear disease (control group) and 7 patients (11 ears) with inner ear malformations (IEM group) and the original data was processed with VR reconstruction. The inner ear osseous labyrinth structure in the images generated by these techniques was observed respectively in the normal ears and malformation ears. The inner ear osseous labyrinth structure and the relationship was displayed clearly in VR imaging in the control group,meanwhile, characters and degree of malformed structure were also displayed clearly in the IEA group. Of seven patients (11 ears) with congenital inner ear malformations, the axial, MPR and VR images can display the site and degree in 9 ears. VR images were superior to the axial images in displaying the malformations in 2 ears with the small lateral semicircular canal malformations. The malformations included Mondini deformity (7 ears), vestibular and semicircular canal malformations (3 ears), vestibular aqueduct dilate (7 ears, of which 6 ears accompanied by other malformations) , the internal auditory canal malformation (2 ears, all accompanied by other malformations). HRCT can display the normal structure of bone inner ear through high quality VR reconstructions. VR images can also display the site and degree of the malformations three-dimensionally and intuitively. HRCT is valuable in diagnosing the inner ear malformation.

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

    Science.gov (United States)

    Köhler, A; Athanasiadis, S

    2001-04-01

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

  5. Pattern of Gross Congenital Malformations in a Tertiary Referral Hospital in Northeast India.

    Science.gov (United States)

    Baruah, Jenita; Kusre, Giriraj; Bora, Reeta

    2015-10-01

    To explore the prevalence of structural congenital malformations among newborns and study some of the fetal and maternal characteristics of the malformed babies in North east India where such systematic study on congenital malformation has not been undertaken before. A cross sectional study was undertaken from May 2010 through Feb 2013 for estimation of gross congenital malformations among live birth and stillbirth children born in Assam Medical College. All live births were clinically examined for detection of gross congenital malformations and autopsy was carried out on still births and neonates dying within 24 h of birth to detect gross congenital malformations in the internal organs. All malformations were classified as per ICD 10 classification. The mothers of the newborns with congenital malformations were interviewed in a predesigned, pretested proforma. The variables included maternal age, antenatal registration, antenatal history of drug intake, consanguinity and previous history of malformations. Statistical analysis was done using chi square test. A total 18,192 births including live births and still births were examined and 206 cases of structural malformations were observed. Prevalence of congenital malformations was 1.2 % of the total live births. Distribution of malformation was predominant among males than in females (60.67 vs. 37.37 %; p malformation of the cardiovascular system was found to be very low. Malformations among stillbirths and newborns born to unregistered mothers were significantly more. Percentage of malformations in babies born to mothers of more than 30 y of age was higher than other age groups (2.2 %). Occurrence of malformations in low birth weight babies were significantly more (p malformations was 1.2 % of the total live births. Musculoskeletal system was the most common system involved. Congenital malformations were significantly associated with sex of the new born, registration of the mother and birth weight of the

  6. Monitoring congenital malformation among inhabitants of town

    International Nuclear Information System (INIS)

    Pawel, I.

    2004-01-01

    In Russia rendering of medical care of inhabitants of town located not far from works of nuclear industries be provided for system of special referral centers. Now the congenital malformation (CM) is one of the most issue of the day unresolved problem protection of genetic health of populations. CM account weighty part of structure incidence nursery every where. The most of CM lead to developmental disability, substantively restrict to life span and fertility. for the present moment the treatment CM developed for isolated instances therefore special prophylaxis to take on special significance. The one way to prophylaxis is simultaneous monitoring of CM and chief factors of disutility. In the framework of the State system of monitoring of CM our research laboratory of the State Research Centre Institute of Biophysics to Make a reality monitoring CM in the families of personnel of units of the atomic industry. From 2000 and during the present moment we are logged data about 21 a species of CM. In any case monstriparity with one of these CM in the families of workers of the atomic industry we investigated this case. Pro hac vice we are logged data about professional contacts parents this child with any factors of professional disutility including ionizing radiation. During 2002 we was obtained reliable information from 13 special referral centers about 33 case of birth of baby with CM. It's average about 1/1000 from all case of birth. From this case only 12 babies with CM was birth in the families of personnel of the atomic industry. (Author)

  7. Open resections for congenital lung malformations

    Directory of Open Access Journals (Sweden)

    Mullassery Dhanya

    2008-01-01

    Full Text Available Aim: Pediatric lung resection is a relatively uncommon procedure that is usually performed for congenital lesions. In recent years, thoracoscopic resection has become increasingly popular, particularly for small peripheral lesions. The aim of this study was to review our experience with traditional open lung resection in order to evaluate the existing "gold standard." Materials and Methods: We carried out a retrospective analysis of all children having lung resection for congenital lesions at our institution between 1997 and 2004. Data were collected from analysis of case notes, operative records and clinical consultation. The mean follow-up was 37.95 months. The data were analyzed using SPSS. Results: Forty-one children (13 F/28 M underwent major lung resections during the study period. Their median age was 4.66 months (1 day-9 years. The resected lesions included 21 congenital cystic adenomatoid malformations, 14 congenital lobar emphysema, four sequestrations and one bronchogenic cyst. Fifty percent of the lesions were diagnosed antenatally. Twenty-six patients had a complete lobectomy while 15 patients had parenchymal sparing resection of the lesion alone. Mean postoperative stay was 5.7 days. There have been no complications in any of the patients. All patients are currently alive, asymptomatic and well. None of the patients have any significant chest deformity. Conclusions: We conclude that open lung resection enables parenchymal sparing surgery, is versatile, has few complications and produces very good long-term results. It remains the "gold standard" against which minimally invasive techniques may be judged.

  8. Management of Orbital and Periorbital Venous Malformation

    Directory of Open Access Journals (Sweden)

    Lara A. Benoiton

    2017-05-01

    Full Text Available BackgroundTo review our management of common venous malformation (VM affecting the orbit and/or periorbital area.MethodsConsecutive patients with orbital and/or periorbital VM were identified from our vascular anomalies database. Demographic details of the patients, anatomic site(s affected, symptoms and signs, presence of a family history of VM, and types of treatment(s were collected, supplemented by chart review.ResultsA total of 24 patients’ age 1–68 (mean, 30 years with orbital and/or periorbital VM presented with cosmetic concerns (n = 17, 71%, distensibility (n = 15, 63%, pain (n = 9, 38%, diplopia (n = 4, 17%, and spontaneous thrombosis (n = 1, 8%. The VM caused globe dystopia (n = 13, 54%, enophthalmos (n = 6, 25%, proptosis (n = 3, 12%, exotropia (n = 3, 12%, and pseudoptosis with visual obstruction (n = 3, 13%. A total of 11 (46% patients were managed conservatively. 13 (54% patients underwent active treatment. Ethanol sclerotherapy (ES was performed in six patients with extensive facial VM associated with orbital/periorbital involvement, resulting in symptomatic improvement in five patients, one of whom developed skin necrosis and another patient developed reduced infraorbital nerve sensation. Surgery was performed for localized lesion (n = 3, 23%, for extensive lesions (n = 4, 31% and as an adjunct to ES (n = 6, 46% resulting in symptomatic improvement in all patients. One patient required correction of lower lid ectropion.ConclusionOrbital and/or periorbital VMs are heterogeneous, and management needs to be individualized. Surgery is used for localized lesions aiming for complete excision, as a debulking procedure for extensive orbital/periorbital VM when ES was not possible, or following ES for extensive facial VM with orbital and/or periorbital involvement.

  9. Genetic causes of congenital brain malformations in epilepsy patients

    DEFF Research Database (Denmark)

    Møller, Rikke Steensbjerre

    2008-01-01

    The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological va...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients.......The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... value for the family, and it is essential for proper genetic counselling. The human brain is one of the most complex structures known, and probably many of the 25.000- 30.000 genes that comprise the human genome are involved in its development, which means that thousands of genes could be candidate...

  10. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions.

    Science.gov (United States)

    Akers, Amy L; Ball, Karen L; Clancy, Marianne; Comi, Anne M; Faughnan, Marie E; Gopal-Srivastava, Rashmi; Jacobs, Thomas P; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A; McCulloch, Charles E; Morrison, Leslie; Moses, Marsha; Moy, Claudia S; Pawlikowska, Ludmilla; Young, William L

    2013-04-01

    Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in "research silos" with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation , and HHT Foundation International . Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations.

  11. The role of MRI in suspected inner ear malformations

    International Nuclear Information System (INIS)

    Koesling, S.; Juettemann, S.; Amaya, B.; Rasinski, C.; Bloching, M.; Koenig, E.

    2003-01-01

    Purpose: This is a prospective analysis of the value of MRI in suspected inner ear malformations. Materials and Methods: In 50 patients (43 children and young adults, 7 adults) with suspected inner ear malformation MRI (1.5 T) was performed. In addition, 42 of these patients underwent CT. For the analysis of the inner ear structures, the constructive interference in steady state (CISS) sequence with 0.7 mm slice thickness was used. Functional tests revealed a sensorineural hearing loss or deafness in 82 temporal bones (TB) and a combined hearing loss in 4 TB. The hearing loss was unilateral in 14 patients. MRI and CT findings were compared. Results: Imaging findings were normal in 58 TB. The pathological findings included inner ear malformations (35 TB), inflammatory changes (4 TB), partial obliteration of labyrinth (2 TB) and congenital aural atresia (1 TB). An isolated absence of the cochlear nerve (1 TB) could only be found by MRI. In the remaining cases, an inner ear malformation was diagnosed by MRI and CT with the same confidence but MRI was superior in displaying the fine details. Conclusions: MRI will become the method of choice in the diagnosis of inner ear malformations. (orig.) [de

  12. Magnetic resonance venography of congenital vascular malformations of the extremities

    International Nuclear Information System (INIS)

    Laor, T.; Burrows, P.E.; Hoffer, F.A.

    1996-01-01

    Contrast angiography can demonstrate the vascular components of a vascular malformation, but can be technically challenging in small patients with complex venous anomalies. We reviewed the role of magnetic resonance venography (MRV) in the evaluation of children with predominantly low-flow, vascular malformations of the extremities. MRV (2D time-of-flight technique) and magnetic resonance (MR) imaging examinations were performed in ten young patients with congential predominantly low-flow vascular malformations of the extremities. MR imaging was used to characterize and determine the extent of the malformations, and MRV to evaluate the deep and superficial venous channels. In all patients, MRV studies were reviewed in conjunction with contrast angiograms, considered the gold standard, to confirm the findings. All signficant channel anomalies seen with contrast angiography were identified with MRV. In addition, MRV demonstrated some veins that were not intentionally opacified during contrast studies. MRV demonstrates both the superficial and deep conducting veins, whereas contrast angiography is a more directed study, evaluating only those channels intentionally opacified. Together, MR imaging and MRV data can non-invasively form the basis for determining the prognosis and choosing the individual treatment of congenital vascular malformations of the extremities. (orig.)

  13. Gross congenital malformation at birth in a government hospital.

    Science.gov (United States)

    Sachdeva, Sandeep; Nanda, Smiti; Bhalla, Kapil; Sachdeva, Ruchi

    2014-01-01

    A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation (GCMF) occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks) with three leading malformation as anencephaly (44.68%), talipes equinovarus (17.02%) and meningomyelocele (10.63%). Higher risk of malformed births were noticed amongst un-booked (2.07%) in-comparison to booked (1.01%) mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]); gravida status of at least 3 (2.69%) followed by 1 (1.43%) and 2 (1.0%) respectively; pre-term (5.13%) vs. term (0.66%); cesarean section (4.36%) versus vaginal delivery (0.62%). Mortality was significantly higher among congenitally malformed (17.35%) than normal (0.34%) newborns. With-in study limitation, emergence of neural tube defect as the single largest category of congenital malformation indicates maternal malnutrition (especially folic acid) that needs appropriate attention and management.

  14. [Cochlear implant in patients with congenital malformation of inner ear].

    Science.gov (United States)

    Han, Dong-yi; Wu, Wen-ming; Xi, Xin; Huang, De-liang; Yang, Wei-yan

    2004-02-01

    To study surgical difficulty and key of the cochlear implant in patients with congenital malformation of inner ear. The cochlear implantations were performed in our department from Jan. 2001 to Apr. 2003 for 18 patients with the malformation of inner ear. In this series, there were 11 cases of large vestibular aqueduct syndrome (LVAS), 3 cases of Waardenberg syndrome, 3 cases of Mondini malformation, and 1 case of Usher syndrome. All 18 patients accepted the Nucleus 24-channel cochlear implantations, including Nucleus straight electrode in 13 cases but Contour implantation in 5 cases of LVAS. During operations, leakage of perilymph but not cerebrospinal fluid (CSF) from the open of scala tympani occurred in 11 cases of LVAS, however, the electrode was inserted successfully. The abnormalities of round window occurred in one of 3 cases of Waardenberg syndrome and 3 cases of Mondini malformation, respectively. The cochlear implant could be conducted successfully for the LVAS, and the postoperative effect was same as the ones for the deafness persons with normal development of inner ear. However, for the patients with Mondini syndrome and common cavity, it is important to accurately assess the extent of abnormalities in the inner ear and accompanied malformation before operation, and to evaluate the full extent of difficulties of the operation in order to minimize the risk of CSF leakage and meningitis.

  15. Antithyroid Drugs and Congenital Malformations: A Nationwide Korean Cohort Study.

    Science.gov (United States)

    Seo, Gi Hyeon; Kim, Tae Hyuk; Chung, Jae Hoon

    2018-03-20

    Untreated or insufficiently treated Graves disease in pregnancy may pose risks to both mother and fetus. Antithyroid drugs (ATDs) are the treatment mainstay, but the potential teratogenic effect of these drugs has prompted clinicians to question the safe management of this vulnerable population. To examine the association between maternal prescriptions for ATDs and congenital malformations in live births. Nationwide cohort study. Korean National Health Insurance database. A cohort of 2 886 970 completed pregnancies linked to live-born infants in 2 210 253 women between 2008 and 2014. Maternal prescriptions for ATDs in the first trimester. The risk for overall and organ-specific congenital malformations in offspring, with logistic regression models used to control for potential confounders. 12 891 pregnancies (0.45%) were exposed to ATDs during the first trimester. The prevalence of malformations in exposed offspring was 7.27%, compared with 5.94% in offspring of women who were not prescribed ATDs during pregnancy (P 495 mg) during the first trimester was associated with an increased risk for malformations compared with a low dose (1 to 126 mg) (adjusted odds ratio, 1.87 [CI, 1.06 to 3.30]). The study used a prescription claims database to assess ATD exposure. Exposure to ATDs during the first trimester was associated with increased risk for congenital malformations, particularly for pregnancies in which women received prescriptions for MMI or both ATDs. None.

  16. Congenital Retinal Macrovessel and the Association of Retinal Venous Malformations With Venous Malformations of the Brain.

    Science.gov (United States)

    Pichi, Francesco; Freund, K Bailey; Ciardella, Antonio; Morara, Mariachiara; Abboud, Emad B; Ghazi, Nicola; Dackiw, Christine; Choudhry, Netan; Souza, Eduardo Cunha; Cunha, Leonardo Provetti; Arevalo, J Fernando; Liu, T Y Alvin; Wenick, Adam; He, Lingmin; Villarreal, Guadalupe; Neri, Piergiorgio; Sarraf, David

    2018-04-01

    Congenital retinal macrovessel (CRM) is a rarely reported venous malformation of the retina that is associated with venous anomalies of the brain. To study the multimodal imaging findings of a series of eyes with congenital retinal macrovessel and describe the systemic associations. In this cross-sectional multicenter study, medical records were retrospectively reviewed from 7 different retina clinics worldwide over a 10-year period (2007-2017). Patients with CRM, defined as an abnormal, large, macular vessel with a vascular distribution above and below the horizontal raphe, were identified. Data were analyzed from December 2016 to August 2017. Clinical information and multimodal retinal imaging findings were collected and studied. Pertinent systemic information, including brain magnetic resonance imaging findings, was also noted if available. Of the 49 included patients, 32 (65%) were female, and the mean (SD) age at onset was 44.0 (20.9) years. A total of 49 eyes from 49 patients were studied. Macrovessel was unilateral in all patients. Color fundus photography illustrated a large aberrant dilated and tortuous retinal vein in all patients. Early-phase frames of fluorescein angiography further confirmed the venous nature of the macrovessel in 40 of 40 eyes. Optical coherence tomography angiography, available in 17 eyes (35%), displayed microvascular capillary abnormalities around the CRM, which were more evident in the deep capillary plexus. Of the 49 patients with CRM, 39 (80%) did not illustrate any evidence of ophthalmic complications. Ten patients (20%) presented with retinal complications, typically an incidental association with CRM. Twelve patients (24%) were noted to have venous malformations of the brain with associated magnetic resonance imaging. Of these, location of the venous anomaly in the brain was ipsilateral to the CRM in 10 patients (83%) and contralateral in 2 patients (17%), mainly located in the frontal lobe in 9 patients (75%). Our study has

  17. A comparison of laparoscopic-assisted (LAARP) and posterior ...

    African Journals Online (AJOL)

    A comparison of laparoscopic-assisted (LAARP) and posterior sagittal (PSARP) anorectoplasty in the outcome of intermediate and high anorectal malformations. ... There were slightly more complications in the LAARP group; intra-operative injury to the vas deferens and urethra occurred once each. Post-operatively, 2 ...

  18. A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review.

    Science.gov (United States)

    Al Kaissi, Ali; Klaushofer, Klaus; Krebs, Alexander; Grill, Franz

    2008-10-24

    Radial hemimelia is a congenital abnormality characterised by the partial or complete absence of the radius. The longitudinal hemimelia indicates the absence of one or more bones along the preaxial (medial) or postaxial (lateral) side of the limb. Preaxial limb defects occurred more frequently with a combination of microtia, esophageal atresia, anorectal atresia, heart defects, unilateral kidney dysgenesis, and some axial skeletal defects. Postaxial acrofacial dysostoses are characterised by distinctive facies and postaxial limb deficiencies, involving the 5th finger, metacarpal/ulnar/fibular/and metatarsal. The patient, an 8-year-old-boy with minimal craniofacial dysmorphic features but with profound upper limb defects of bilateral and symmetrical absence of the radius and the thumbs respectively. In addition, there was a unilateral tibio-fibular hypoplasia (hemimelia) associated with hypoplasia of the terminal phalanges and malsegmentation of the upper thoracic vertebrae, causing effectively the development of thoracic kyphosis. In the typical form of the preaxial acrofacial dysostosis, there are aberrations in the development of the first and second branchial arches and limb buds. The craniofacial dysmorphic features are characteristic such as micrognathia, zygomatic hypoplasia, cleft palate, and preaxial limb defects. Nager and de Reynier in 1948, who used the term acrofacial dysostosis (AFD) to distinguish the condition from mandibulofacial dysostosis. Neither the facial features nor the limb defects in our present patient appear to be absolutely typical with the previously reported cases of AFD. Our patient expands the phenotype of syndromic preaxial limb malformation complex. He might represent a new syndromic entity of mild naso-maxillary malformation in connection with axial and extra-axial malformation complex.

  19. Cerebral cavernous malformations. Serial magnetic resonance imaging findings in patients with and without gamma knife surgery

    International Nuclear Information System (INIS)

    Yoon Pyeong-Ho; Kim, Dong-Ik; Jeon Pyoung; Ryu, Young-Hoon; Hwang, Geum-Joo; Park, Sang-Joon

    1998-01-01

    To classify the cerebral cavernous malformations and to investigate the natural history of cavernous malformations according to the classification, 41 patients with 61 cavernous malformations (40 cavernous malformations from 22 patients treated with gamma knife surgery) were regularly followed up using MR imaging for a mean period of 25.5 months in treated cavernous malformations and 20.7 months in untreated cavernous malformations, respectively. Cavernous malformations were classified into four types. Follow-up MR images were analyzed to evaluate changes in size, signal intensity, rebleeding, and perilesional adverse reaction of irradiation. A total of 61 cavernous malformations including 17 in type I, 23 in type II, 10 in type III, and 11 in type IV showed usual degradation of blood product in 22 cavernous malformations, no change in shape and signal intensity in 31 cavernous malformations, and eight cavernous malformations with rebleedings in the serial MR images. In these eight cavernous malformations with rebleedings, six occurred in type II and two in type III, but none in type I or IV. Rebleedings were more frequent in type II than in other types. Adverse reaction of irradiation was observed in five of 22 patients treated with gamma knife surgery. Although most cerebral cavernous malformations showed evolution of hemorrhage or no change in size or shape on follow-up MR images, cerebral cavernous malformations represented as mixture of subacute and chronic hemorrhage with hemosiderin rim (type II) have a higher frequency to rebleed than other types of cerebral cavernous malformations. Cerebral cavernous malformations represented as hemosiderin deposition without central core (type IV) have a lower tendency to rebleed than other types and do not need any treatment. Most of the adverse reaction of irradiation after gamma knife surgery around cavernous malformations are transient findings and are considered to be perilesional edema. (K.H)

  20. Pattern of congenital brain malformations at a referral hospital in Saudi Arabia: An MRI study

    International Nuclear Information System (INIS)

    Alorainy, Ibrahim A.

    2006-01-01

    More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed. With the help of these classification systems, it is now possible, with neuroimaging, to time neuroembtyologic events. Magnetic resonance imaging (MRI), in particular, is useful in studying these malformations. This study evaluated the pattern of congenital brain malformations in a university referral hospital setting. The records of all MRI brain examinations at our hospital over a period of 3 years for children younger than 15 years of age were reviewed. Cases of congenital cerebral malformations were analyzed by sex, age at presentation, type of congenital cerebral malformation and other associated congenital cerebral malformations. Of the 808 MR examinations of different parts of the body for children in the study period, 719 (89%), on 581 patients, were of the brain. Eighty-six children (14.8%) were found to have single or multiple congenital brain malformations. In these children, 114 congenital brain malformations were identified, the commonest being cortical migrational defects (25 patients, 22%), neural tube closure defects (22 patients, 19%), and corpus callosum dysgenesis (22 patients 19%). The least common was vascular malformation. Sixteen patients (18.6%) had more than one congenital brain malformations. Neural tube closer defects, cortical migrational abnormalities, and corpus callosum anomalies were the commonest congenital brain malformations, while vascular malformations were the least common. Most of the identified malformations demonstrated the usual pattern, but a few showed unusual patterns and associations. (author)

  1. STUDY OF OUTCOME AND COMPLICATIONS OF ANORECTAL MYECTOMY IN CHILDREN WITH ULTRASHORT SEGMENT HIRSCHSPRUNG’S DISEASE

    Directory of Open Access Journals (Sweden)

    J. Ahmadi

    2006-08-01

    Full Text Available The term ultra short is not clearly defined in ultrashort-segment Hirschsprung’s disease. The limited extent of the ultrashort-segment Hirschsprung’s disease allows for treatment with extended sphincteromyectomy. In anal sphincter achalasia, anal sphincter dilatation under general anesthesia may be sufficient to treat the condition; in cases with persistent constipation, sphincteromyectomy is indicated. Some investigators believe that the term ultrashort-segment Hirschsprung’s disease and anorectal achalasia are the same. Our study was performed to define the efficacy of transanal anorectal ‎myectomy and digital dilation under general anesthesia in children with ultra short-segment Hirschsprung’s disease and internal anal sphincter achalasia. A total of 87 patients were included in our study. Among these, 15 cases (17.24% were female and 72 (82.76% were male. In 12 patients (13.79%, the muscle strip had normal ganglion cells in both distal and proximal ends (group A. In 10 patients (11.49%, there was not any ganglion cell in both distal and proximal ends of muscle strip (group B. In 65 patients (74.71%, there were normal ganglion cells in proximal end with no ganglion cell in distal end of the muscle strip (group C. ‎There was no meaningful differences between group A, B and C in their outcome and partially or complete response to anorectal myectomy. We recommend the term “sluggish rectum” for these patients instead of ultrashort-segment Hirschsprung’s disease or internal anal sphincter achalasia that causes ambiguity in diagnosis and treatment of these cases.

  2. Anorectal stimulation causes increased colonic motor activity in subjects with spinal cord injury.

    Science.gov (United States)

    Korsten, Mark A; Singal, Ashwani K; Monga, Amit; Chaparala, Geeta; Khan, Amir M; Palmon, Ron; Mendoza, John Reagan D; Lirio, Juan P; Rosman, Alan S; Spungen, Ann; Bauman, William A

    2007-01-01

    Difficulty with evacuation (DWE) is a major problem after spinal cord injury (SCI). Stimulation of the anal canal and lower rectum, accomplished using a gloved finger (so-called digital rectal stimulation or DRS) is often used as an adjunct to laxatives and enemas to facilitate bowel evacuation. However, the basis for the efficacy of DRS is not known. This study assessed the effect of DRS on colonic motility. Six subjects with SCI were studied several hours after a bowel care session. Colonic motility was assessed using a manometric catheter (affixed endoscopically to the splenic flexure) at baseline, during DRS, and after DRS. In addition, evacuation of barium oatmeal paste (with the consistency of stool and introduced into the rectum and descending colon) was assessed simultaneously using fluoroscopic techniques. The mean number (+/- SEM) of peristaltic waves per minute increased from 0 at baseline to 1.9 (+/- 0.5/min) during DRS and 1.5 (+/- 0.3/min) during the period immediately after cessation of DRS (P < 0.05). The mean amplitude (+/- SEM) of the peristaltic contractions was 43.4 (+/- 2.2) mmHg. The frequency of contractions, as well as amplitude of contractions, during or immediately after DRS was not significantly different. These manometric changes in response to DRS were accompanied by expulsion of barium oatmeal paste in every subject by the fifth DRS. DRS causes left-sided colonic activity in subjects with SCI. At least in part, an anorectal colonic reflex that results in enhanced contractions of the descending colon and rectum may contribute to bowel evacuation in individuals with SCI.

  3. Dose-Effect Relationships for Individual Pelvic Floor Muscles and Anorectal Complaints After Prostate Radiotherapy

    International Nuclear Information System (INIS)

    Smeenk, Robert Jan; Hoffmann, Aswin L.; Hopman, Wim P.M.; Lin, Emile N.J. Th. van; Kaanders, Johannes H.A.M.

    2012-01-01

    Purpose: To delineate the individual pelvic floor muscles considered to be involved in anorectal toxicity and to investigate dose-effect relationships for fecal incontinence-related complaints after prostate radiotherapy (RT). Methods and Materials: In 48 patients treated for localized prostate cancer, the internal anal sphincter (IAS) muscle, the external anal sphincter (EAS) muscle, the puborectalis muscle (PRM), and the levator ani muscles (LAM) in addition to the anal wall (Awall) and rectal wall (Rwall) were retrospectively delineated on planning computed tomography scans. Dose parameters were obtained and compared between patients with and without fecal urgency, incontinence, and frequency. Dose-effect curves were constructed. Finally, the effect of an endorectal balloon, which was applied in 28 patients, was investigated. Results: The total volume of the pelvic floor muscles together was about three times that of the Awall. The PRM was exposed to the highest RT dose, whereas the EAS received the lowest dose. Several anal and rectal dose parameters, as well as doses to all separate pelvic floor muscles, were associated with urgency, while incontinence was associated mainly with doses to the EAS and PRM. Based on the dose-effect curves, the following constraints regarding mean doses could be deduced to reduce the risk of urgency: ≤30 Gy to the IAS; ≤10 Gy to the EAS; ≤50 Gy to the PRM; and ≤40 Gy to the LAM. No dose-effect relationships for frequency were observed. Patients treated with an endorectal balloon reported significantly less urgency and incontinence, while their treatment plans showed significantly lower doses to the Awall, Rwall, and all pelvic floor muscles. Conclusions: Incontinence-related complaints show specific dose-effect relationships to individual pelvic floor muscles. Dose constraints for each muscle can be identified for RT planning. When only the Awall is delineated, substantial components of the continence apparatus are

  4. Dose-effect relationships for individual pelvic floor muscles and anorectal complaints after prostate radiotherapy.

    Science.gov (United States)

    Smeenk, Robert Jan; Hoffmann, Aswin L; Hopman, Wim P M; van Lin, Emile N J Th; Kaanders, Johannes H A M

    2012-06-01

    To delineate the individual pelvic floor muscles considered to be involved in anorectal toxicity and to investigate dose-effect relationships for fecal incontinence-related complaints after prostate radiotherapy (RT). In 48 patients treated for localized prostate cancer, the internal anal sphincter (IAS) muscle, the external anal sphincter (EAS) muscle, the puborectalis muscle (PRM), and the levator ani muscles (LAM) in addition to the anal wall (Awall) and rectal wall (Rwall) were retrospectively delineated on planning computed tomography scans. Dose parameters were obtained and compared between patients with and without fecal urgency, incontinence, and frequency. Dose-effect curves were constructed. Finally, the effect of an endorectal balloon, which was applied in 28 patients, was investigated. The total volume of the pelvic floor muscles together was about three times that of the Awall. The PRM was exposed to the highest RT dose, whereas the EAS received the lowest dose. Several anal and rectal dose parameters, as well as doses to all separate pelvic floor muscles, were associated with urgency, while incontinence was associated mainly with doses to the EAS and PRM. Based on the dose-effect curves, the following constraints regarding mean doses could be deduced to reduce the risk of urgency: ≤ 30 Gy to the IAS; ≤ 10 Gy to the EAS; ≤ 50 Gy to the PRM; and ≤ 40 Gy to the LAM. No dose-effect relationships for frequency were observed. Patients treated with an endorectal balloon reported significantly less urgency and incontinence, while their treatment plans showed significantly lower doses to the Awall, Rwall, and all pelvic floor muscles. Incontinence-related complaints show specific dose-effect relationships to individual pelvic floor muscles. Dose constraints for each muscle can be identified for RT planning. When only the Awall is delineated, substantial components of the continence apparatus are excluded. Copyright © 2012 Elsevier Inc. All rights

  5. Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations.

    Science.gov (United States)

    Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

    2014-07-01

    In the past two decades, significant progress in neuroimaging and genetic techniques has allowed for advances in the correct definition/classification of congenital brain abnormalities, which have resulted in a better understanding of their pathogenesis. In addition, new groups of diseases, such as axonal guidance disorders or tubulinopathies, are increasingly reported. Well-defined neuroimaging diagnostic criteria have been suggested for the majority of congenital brain abnormalities. Accurate diagnoses of these complex abnormalities, including distinction between malformations and disruptions, are of paramount significance for management, prognosis, and family counseling. In the next decade, these advances will hopefully be translated into deeper understanding of these disorders and more specific treatments. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  6. Discourses and Models of Intermediality

    OpenAIRE

    Schröter, Jens

    2011-01-01

    In his article "Discourses and Models of Intermediality" Jens Schröter discusses the question as to what relations do different discourses pose between different "media." Schröter identifies four models of discourse: 1) synthetic intermediality: a "fusion" of different media to super-media, a model with roots in the Wagnerian concept of Gesamtkunstwerk with political connotations, 2) formal (or transmedial) intermediality: a concept based on formal structures not "specific" to one medium but ...

  7. Information acquisition and financial intermediation

    OpenAIRE

    Boyarchenko, Nina

    2012-01-01

    This paper considers the problem of information acquisition in an intermediated market, where the specialists have access to superior technology for acquiring information. These informational advantages of specialists relative to households lead to disagreement between the two groups, changing the shape of the intermediation-constrained region of the economy and increasing the frequency of periods when the intermediation constraint binds. Acquiring the additional information is, however, cost...

  8. Antidepressant exposure during early pregnancy and congenital malformations

    DEFF Research Database (Denmark)

    Pedersen, Lars Henning

    are reassuring, however, an association with heart malformations has been suggested for e.g. paroxetine. A potential biological explanation will be reviewed. The potential teratogenic potential of antidepressants needs to be balanced against the obvious problems associated with under-treated maternal depression......Pharmacological treatment of pregnant women with depression is hampered by concerns for the developing fetus. The presentation will summarize existing knowledge on the potential association between antidepressants and congenital malformations, elaborate on the scientific background, and discuss...... the clinical significance. Most information on malformations in humans is derived from epidemiological studies. The strengths and limitations of the different designs need careful consideration, including issues of confounding by indication, recall bias, and power. For most antidepressants existing data...

  9. Congenital ossicular malformation. A study of 27 ears

    International Nuclear Information System (INIS)

    Morioka, Shigefumi; Sakaguchi, Hirofumi; Taki, Masakatsu; Hyogo, Misako; Suzuki, Toshihiro; Hisa, Yasuo

    2010-01-01

    Despite otological surgerical progress improving clinical congenital ossicular malformation management, some cases remain inadequately treated. We report 27 cases of congenital ossicular malformation, focusing on reasons for remaining or delayed postoperative hearing loss evaluated in 27 congenital ossicular malformation cases in Kyoto Prefecture from 2002 to 2008. Overall success was 93% (25/27) 6 months postoperatively. Two ears had no hearing improvement and three delayed hearing loss 8 to 48 months postoperatively. The first two ears underwent small fenestration stapedotomy with malleus attachment piston, and the other three tympanoplasty type III using an autologous ossicle or total ossicular replacement prosthesis (TORP) as a columella. We discuss problems and solutions using a malleus attachment piston or prosthesis, preoperative audio- and radiological findings, and operative findings including facial nerve anomaly and congenital cholesteatoma. (author)

  10. Classification of venous malformations in children and implications for sclerotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Puig, Stefan [Department of Radiology, University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria); Department of Paediatric Radiology, Hopital Necker-Enfants Malades, Paris (France); Aref, Hussein [Department of Paediatric Radiology, Hopital Necker-Enfants Malades, Paris (France); Department of Radiology, Alexandria Faculty of Medicine, Alexandria (Egypt); Chigot, Valerie; Brunelle, Francis [Department of Paediatric Radiology, Hopital Necker-Enfants Malades, Paris (France); Bonin, Beatrice [Paediatric Maxillofacial Surgery, Trousseau Hospital, Tours (France)

    2003-02-01

    The purpose of this work is to present a simple and descriptive classification system for venous malformations (VMs) that may serve as a basis for interventional therapy, and to test its usefulness in a sample of consecutively referred paediatric patients. The classification system we developed includes four types: type I, isolated malformation without peripheral drainage; type II, malformation that drains into normal veins; type III, malformation that drains into dilated veins; and type IV, malformation that represents dysplastic venous ectasia. The system was prospectively tested using phlebography in a sample of 43 children and adolescents with VMs who were referred for treatment during a 10-month period. Our hypothesis was that the type of VM would determine whether low-risk sclerotherapy was indicated. Thirteen (30%) patients had a type-I VM, 16 (37%) had a type-II, 9 (21%) had a type-III, and 5 (12%) had a type-IV malformation. In more than 90% of patients with a type-I or type-II lesion, sclerotherapy could be performed without any problems. In one third of patients with a type-III VM, sclerotherapy had to be withheld and one of nine (11%) developed a severe complication after therapy. Of the five patients with type-IV lesions, three (60%) had to be excluded from sclerotherapy. Our initial results indicate that sclerotherapeutic intervention in patients with type-III and type-IV VMs must be carefully considered, while it can be safely performed in low-risk patients with type-I and type-II lesions. (orig.)

  11. [Management of occult malformations at the lateral skull base].

    Science.gov (United States)

    Bryson, E; Draf, W; Hofmann, E; Bockmühl, U

    2005-12-01

    Occult malformations of the lateral skull base are rare anomalies, but can cause severe complications such as recurrent meningitis. Therefore, they need to be precisely delineated and sufficient surgical closure is mandatory. Between 1986 and 2004 twenty patients (10 children and 10 adults) with occult malformations at the lateral skull base were treated surgically at the ENT-Department of the Hospital Fulda gAG. Of these 3 Mondini-malformations, 11 defects of the tegmen tympani or the mastoidal roof, 2 dural lesions to the posterior fossa and 4 malformations within the pyramidal apex have been found. Four patients have had multiple anomalies. Routing symptom was in all cases at least one previous meningitis. Radiological diagnostics included high-resolution computed tomography (CT) and magnetic resonance imaging (MRI) as well as CT- or MR-cisternography. Depending on type and localisation of the defect the following surgical algorithm was carried out: The trans-mastoidal approach was used in all cases of Mondini-malformation (including obliteration of the ear), in case of lesions to the posterior fossa as well as partly in anomalies at the tegmen tympani and mastoidal roof, respectively. Defects of the pyramidal apex should be explored via the trans-mastoidal way if the lesion is located caudally to the inner auditory canal (IAC), whereas the trans-temporal approach should be used if the lesion is situated ventral to the IAC and dorso-medially to the internal carotid artery (ICA). The trans-temporal approach was also performed in large defects of the tegmen tympani and mastoidal roof as well as in recurrences. In all cases of recurrent meningitis caused by agents of the upper airway tract the basic principle should be to search for occult skull base malformations radiologically as well as by sodium fluorescein endoscopy as long as the anomaly is detected.

  12. [Epidemiological analysis of selected congenital limb malformations in Hengyang].

    Science.gov (United States)

    Li, Na-Na; Yuan, Yu-Mei; Liu, Yong; Dai, Li; Deng, Chang-Fei; Nie, Xing-Hui; Zheng, Xiang-Chi; Hu, Yan-Zhen; Liu, Yun-Rong

    2013-07-01

    To describe the epidemiological characteristics of selected congenital limb malformations (CLM) in newborns of Hengyang. During the period of 2008-2010, cluster sampling survey was adopted to investigate the congenital limb malformations of neonates born to women resident in Hengyang, including Nanyue District, Zhuhui District, Changning City and Hengshan County. Each newborn was examined for the screening of CLM after birth. Limb malformations were grouped into the isolated (ILM) and the syndromic (SLM) form, depending on associated malformations of the affected. Prevalence rates, CLM spectrum and clinical manifestations were analyzed. A total of 170 CLM cases were identified among 52,307 newborns during the study period, resulting overall rate of 32.50/10(4). The rates for isolated and syndromic CLM were 28.29 and 4.21 per 10 000 births respectively. The rates for polydactyly, congenital talipes equinovarus, syndactyly and limb reduction defects were 13.00/10(4), 9.56/10(4), 5.16/10(4) and 3.63/10(4), respectively. No significant difference in rates of overall CLM or specified CLM was observed across urban-rural, gender and maternal age groups. Of the cases affected by polydactyly, syndactyly and limb reduction defects, malformation involved upper limbs, lower limbs and the both accounted for 68.14%, 14.16% and 17.70%. Preterm birth, low birth-weight, still birth and neonatal death were observed more frequently in syndromic cases than in isolated patients. The high CLM prevalence rate and fatality rate in Hengyang suggest that effective measures should be taken to prevent malformations and to improve survival of the affected.

  13. Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study

    DEFF Research Database (Denmark)

    Jentink, Janneke; Dolk, Helen; Loane, Maria A

    2010-01-01

    To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy.......To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy....

  14. Effects of Co60 gamma radiation on Biomphalaria glabrata (Say, 1818) Embryo. II. Malformations

    International Nuclear Information System (INIS)

    Okazaki, K.; Kawano, T.

    1990-01-01

    The morphogenetic effects of ionizing radiation were investigated in Biomphalaria glabrata embryos irradiated in the cleavage, blastula, gastrula, young trochophore and trochophore stages with 5 to 25 Gy doses of 60 CO gamma radiation. The number of malformed embryos rapidly increased with increasing radiation dose, reaching a maximum between 5th to 8th day after irradiation in all stages analyzed. Susceptibility to malformation induction was higher the younger than the age of the irradiated embryo. However, for the cleavage stage the frequency of malformed embryos was inversely proportional to radiation dose for the same radiation dose. Several types of morphogenetic malformations were obtained, among then cephalic malformations, exogastrula, shell malformations and embryos with everted stomodeum, unspecific malformations being the most frequent. The results show that the types of malformation induced by radiation probably are not radiation-specific and do not depend on the dose applied [pt

  15. Imaging features of ductal plate malformations in adults

    Energy Technology Data Exchange (ETDEWEB)

    Venkatanarasimha, N., E-mail: nandashettykv@yahoo.com [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom); Thomas, R.; Armstrong, E.M.; Shirley, J.F.; Fox, B.M.; Jackson, S.A. [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom)

    2011-11-15

    Ductal plate malformations, also known as fibrocystic liver diseases, are a group of congenital disorders resulting from abnormal embryogenesis of the biliary ductal system. The abnormalities include choledochal cyst, Caroli's disease and Caroli's syndrome, adult autosomal dominant polycystic liver disease, and biliary hamartoma. The hepatic lesions can be associated with renal anomalies such as autosomal recessive polycystic kidney disease (ARPKD), medullary sponge kidney, and nephronophthisis. A clear knowledge of the embryology and pathogenesis of the ductal plate is central to the understanding of the characteristic imaging appearances of these complex disorders. Accurate diagnosis of ductal plate malformations is important to direct appropriate clinical management and prevent misdiagnosis.

  16. [The genetic background for the eye malformations anophthalmia and microphthalmia].

    Science.gov (United States)

    Roos, Laura Sønderberg; Grønskov, Karen; Jensen, Hanne; Tümer, Zeynep

    2012-03-12

    Anophthalmia and microphthalmia (AO/MO) are rare congenital eye malformations, in which the eyeball is apparently absent or smaller than normal, which causes various degrees of visual impairment. Over 200 different AO/MO-related syndromes have been described, but the genetic background is unknown in many cases. The aim of this article is to give an overview of AO/MO, focusing on the genetic background. It is illustrated that the future identification of new AO/MO related genes will benefit in the genetic counseling of AO/MO patients, and in the understanding of eye development and congenital eye malformations.

  17. Berry syndrome in association with familial limb malformation.

    LENUS (Irish Health Repository)

    Shahdadpuri, R

    2012-02-01

    We describe a newborn boy diagnosed with Berry syndrome consisting of a distal aortopulmonary septal defect, aortic origin of the right pulmonary artery, and interruption of the aorta. The child was noted to have reduplication of the right thumb. The child\\'s mother had a claw malformation of her left hand but a normal cardiovascular status. Genetic analysis for TBX5 and SALL4 mutations were negative in both the patient and his mother. This case describes the first ever report of Berry syndrome in an infant with reduplication of the right thumb and familial limb malformation.

  18. Diffusion imaging and tractography of congenital brain malformations

    International Nuclear Information System (INIS)

    Wahl, Michael; Barkovich, A.J.; Mukherjee, Pratik

    2010-01-01

    Diffusion imaging is an MRI modality that measures the microscopic molecular motion of water in order to investigate white matter microstructure. The modality has been used extensively in recent years to investigate the neuroanatomical basis of congenital brain malformations. We review the basic principles of diffusion imaging and of specific techniques, including diffusion tensor imaging (DTI) and high angular resolution diffusion imaging (HARDI). We show how DTI and HARDI, and their application to fiber tractography, has elucidated the aberrant connectivity underlying a number of congenital brain malformations. Finally, we discuss potential uses for diffusion imaging of developmental disorders in the clinical and research realms. (orig.)

  19. Cancer risk in siblings of children with congenital malformations

    DEFF Research Database (Denmark)

    Sun, Yuelian; Wu, Chunsen; Arah, Onyebuchi A

    2016-01-01

    PURPOSE: Cancer and birth defects cluster in families more often than expected by chance, but the reasons are neither well known nor well studied. METHODS: From singletons born alive in Denmark between 1 January 1977 and 31 December 2007, we identified children who had no congenital malformations...... but had a full or half sibling with a congenital malformation (CM) diagnosed in the first year of life; this constituted the exposed group, while children whose siblings had no such condition constituted a reference group. We estimated cancer risks for children who had a full sibling or a half sibling...

  20. Radiographic assessment of congenital malformations of the upper extremity

    International Nuclear Information System (INIS)

    Winfeld, Matthew J.; Otero, Hansel

    2016-01-01

    Congenital and developmental malformations of the upper extremity are uncommon and their diagnosis can challenge radiologists. Many complex classification systems exist, the latest of which accounts for the complex embryology and pathogenetic mechanisms that govern the formation of these anomalies. Using appropriate descriptors allows for more specific diagnosis and improved consultation with referring pediatricians and surgeons, helping to guide medical and surgical interventions and, if indicated, further investigation for associated abnormalities and underlying syndromes. We review the imaging characteristics of upper limb malformations to help pediatric radiologists better understand the classification and workup necessary in these cases. (orig.)